Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Entry version 152 (31 Jul 2019)
Sequence version 2 (09 Jan 2007)
Previous versions | rss
Other tutorials and videosHelp videoFeedback
Protein

Adenosine deaminase 2

Gene

ADA2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Adenosine deaminase that may contribute to the degradation of extracellular adenosine, a signaling molecule that controls a variety of cellular responses. Requires elevated adenosine levels for optimal enzyme activity. Binds to cell surfaces via proteoglycans and may play a role in the regulation of cell proliferation and differentiation, independently of its enzyme activity.2 Publications

Miscellaneous

Candidate gene for the Cat Eye Syndrome (CES), a developmental disorder associated with the duplication of a 2 Mb region of 22q11.2. Duplication usually takes in the form of a surpernumerary bisatellited isodicentric chromosome, resulting in four copies of the region (represents an inv dup(22)(q11)). CES is characterized clinically by the combination of coloboma of the iris and anal atresia with fistula, downslanting palpebral fissures, preauricular tags and/or pits, frequent occurrence of heart and renal malformations, and normal or near-normal mental development.

<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section describes the catalytic activity of an enzyme, i.e. a chemical reaction that the enzyme catalyzes.<p><a href='/help/catalytic_activity' target='_top'>More...</a></p>Catalytic activityi

<p>This subsection of the ‘Function’ section provides information relevant to cofactors. A cofactor is any non-protein substance required for a protein to be catalytically active. Some cofactors are inorganic, such as the metal atoms zinc, iron, and copper in various oxidation states. Others, such as most vitamins, are organic.<p><a href='/help/cofactor' target='_top'>More...</a></p>Cofactori

Zn2+1 PublicationNote: Binds 1 zinc ion per subunit.1 Publication

<p>This subsection of the ‘Function’ section describes biophysical and chemical properties, such as maximal absorption, kinetic parameters, pH dependence, redox potentials and temperature dependence.<p><a href='/help/biophysicochemical_properties' target='_top'>More...</a></p>Kineticsi

  1. KM=2.25 mM for adenosine1 Publication

    pH dependencei

    Optimum pH is 6.6.1 Publication

    Sites

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    <p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section indicates at which position the protein binds a given metal ion. The nature of the metal is indicated in the ‘Description’ field.<p><a href='/help/metal' target='_top'>More...</a></p>Metal bindingi112Zinc; catalytic1
    Metal bindingi114Zinc; catalytic1
    <p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section describes the interaction between a single amino acid and another chemical entity. Priority is given to the annotation of physiological ligands.<p><a href='/help/binding' target='_top'>More...</a></p>Binding sitei115Substrate1
    Binding sitei293Substrate1
    Binding sitei326Substrate; via amide nitrogen1
    Metal bindingi356Zinc; catalytic1
    <p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section is used for enzymes and indicates the residues directly involved in catalysis.<p><a href='/help/act_site' target='_top'>More...</a></p>Active sitei359Proton donorCurated1
    Active sitei384Proton acceptorCurated1
    Metal bindingi441Zinc; catalytic1
    Binding sitei442Substrate1

    <p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

    GO - Biological processi

    <p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

    Molecular functionHeparin-binding, Hydrolase
    LigandMetal-binding, Zinc

    Enzyme and pathway databases

    BRENDA Comprehensive Enzyme Information System

    More...
    BRENDAi
    3.5.4.4 2681

    Reactome - a knowledgebase of biological pathways and processes

    More...
    Reactomei
    R-HSA-5683826 Surfactant metabolism
    R-HSA-6798695 Neutrophil degranulation

    <p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

    <p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
    Recommended name:
    Adenosine deaminase 2Imported (EC:3.5.4.42 Publications)
    Alternative name(s):
    Cat eye syndrome critical region protein 1
    <p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
    Name:ADA2Imported
    Synonyms:ADGF, CECR1, IDGFL
    <p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
    <p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
    <p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    <p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
    • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 22

    Organism-specific databases

    Human Gene Nomenclature Database

    More...
    HGNCi
    HGNC:1839 ADA2

    Online Mendelian Inheritance in Man (OMIM)

    More...
    MIMi
    607575 gene

    neXtProt; the human protein knowledge platform

    More...
    neXtProti
    NX_Q9NZK5

    <p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

    Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

    Keywords - Cellular componenti

    Secreted

    <p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

    <p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

    Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome (VAIHS)2 Publications
    The disease is caused by mutations affecting the gene represented in this entry.
    Disease descriptionAn autosomal recessive, systemic necrotizing vasculitis that affects medium and small arteries. The ensuing tissue ischemia can affect any organ, including the skin, musculoskeletal system, kidneys, gastrointestinal tract, and the cardiovascular and nervous systems. Organ involvement and disease severity are highly variable. Clinical features include recurrent ischemic stroke affecting the small vessels of the brain and resulting in neurologic dysfunction, recurrent fever, myalgias, livedoid rash, gastrointestinal pain and hepatosplenomegaly.
    Related information in OMIM
    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_07113747G → R in VAIHS; there is a decreased expression of the mutant protein compared to wild-type. 2 PublicationsCorresponds to variant dbSNP:rs202134424Ensembl.1
    Natural variantiVAR_07113847G → V in VAIHS. 1 PublicationCorresponds to variant dbSNP:rs200930463EnsemblClinVar.1
    Natural variantiVAR_071139109A → D in VAIHS. 1 PublicationCorresponds to variant dbSNP:rs587777240EnsemblClinVar.1
    Natural variantiVAR_071140112H → Q in VAIHS. 1 PublicationCorresponds to variant dbSNP:rs587777241EnsemblClinVar.1
    Natural variantiVAR_071141169R → Q in VAIHS. 2 PublicationsCorresponds to variant dbSNP:rs77563738EnsemblClinVar.1
    Natural variantiVAR_071142251P → L in VAIHS. 1 PublicationCorresponds to variant dbSNP:rs148936893EnsemblClinVar.1
    Natural variantiVAR_071143264W → S in VAIHS. 1 PublicationCorresponds to variant dbSNP:rs587777242EnsemblClinVar.1
    Natural variantiVAR_071144453Y → C in VAIHS. 1 PublicationCorresponds to variant dbSNP:rs376785840EnsemblClinVar.1
    Sneddon syndrome (SNDNS)1 Publication
    The disease is caused by mutations affecting the gene represented in this entry.
    Disease descriptionAn autosomal recessive, systemic non-inflammatory thrombotic vasculopathy characterized by the association of livedo racemosa, and in some cases livedo reticularis, with cerebrovascular disease. Livedo racemosa is a persistent net-like violaceous-cyanotic, mottled discoloration of the skin affecting the legs, the arms, the buttocks and the trunk; livedo reticularis is limited to the extremities and is visible only in the cold. Cerebrovascular features include recurrent transient ischemic attacks, infarcts, and rarely spinal strokes or intracranial or subarachnoid hemorrhages. Headache and vertigo may precede the onset of livedo racemosa and cerebrovascular manifestations by several years. Rare neurologic symptoms include seizures, chorea, or myelopathies.
    Related information in OMIM
    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    Natural variantiVAR_072562119V → A in SNDNS. 1 Publication1
    Natural variantiVAR_072563142G → S in SNDNS. 1 Publication1

    Mutagenesis

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    <p>This subsection of the <a href="http://www.uniprot.org/manual/pathology_and_biotech_section">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi137C → G: Abolishes secretion. 1 Publication1
    Mutagenesisi362W → G: Reduces dimerization and enzyme activity. 1 Publication1

    Keywords - Diseasei

    Disease mutation

    Organism-specific databases

    DisGeNET

    More...
    DisGeNETi
    51816

    MalaCards human disease database

    More...
    MalaCardsi
    ADA2
    MIMi182410 phenotype
    615688 phenotype

    Open Targets

    More...
    OpenTargetsi
    ENSG00000093072

    Orphanet; a database dedicated to information on rare diseases and orphan drugs

    More...
    Orphaneti
    124 Blackfan-Diamond anemia
    820 Sneddon syndrome
    404553 Vasculitis due to ADA2 deficiency

    The Pharmacogenetics and Pharmacogenomics Knowledge Base

    More...
    PharmGKBi
    PA26382

    Polymorphism and mutation databases

    BioMuta curated single-nucleotide variation and disease association database

    More...
    BioMutai
    ADA2

    Domain mapping of disease mutations (DMDM)

    More...
    DMDMi
    122065151

    <p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

    Molecule processing

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    <p>This subsection of the ‘PTM / Processing’ section denotes the presence of an N-terminal signal peptide.<p><a href='/help/signal' target='_top'>More...</a></p>Signal peptidei1 – 29Sequence analysisAdd BLAST29
    <p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_000000672530 – 511Adenosine deaminase 2Add BLAST482

    Amino acid modifications

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    <p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section specifies the position and type of each covalently attached glycan group (mono-, di-, or polysaccharide).<p><a href='/help/carbohyd' target='_top'>More...</a></p>Glycosylationi127N-linked (GlcNAc...) asparagine1 Publication1
    <p>This subsection of the PTM / Processing":/help/ptm_processing_section section describes the positions of cysteine residues participating in disulfide bonds.<p><a href='/help/disulfid' target='_top'>More...</a></p>Disulfide bondi137 ↔ 1591 Publication
    Glycosylationi174N-linked (GlcNAc...) asparagine1 Publication1
    Glycosylationi185N-linked (GlcNAc...) asparagine1 Publication1
    Glycosylationi378N-linked (GlcNAc...) asparagine2 Publications1

    Keywords - PTMi

    Disulfide bond, Glycoprotein

    Proteomic databases

    jPOST - Japan Proteome Standard Repository/Database

    More...
    jPOSTi
    Q9NZK5

    MaxQB - The MaxQuant DataBase

    More...
    MaxQBi
    Q9NZK5

    PaxDb, a database of protein abundance averages across all three domains of life

    More...
    PaxDbi
    Q9NZK5

    PeptideAtlas

    More...
    PeptideAtlasi
    Q9NZK5

    PRoteomics IDEntifications database

    More...
    PRIDEi
    Q9NZK5

    ProteomicsDB human proteome resource

    More...
    ProteomicsDBi
    83424 [Q9NZK5-1]
    83425 [Q9NZK5-2]

    Consortium for Top Down Proteomics

    More...
    TopDownProteomicsi
    Q9NZK5-1 [Q9NZK5-1]

    PTM databases

    GlyConnect protein glycosylation platform

    More...
    GlyConnecti
    1912

    iPTMnet integrated resource for PTMs in systems biology context

    More...
    iPTMneti
    Q9NZK5

    Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

    More...
    PhosphoSitePlusi
    Q9NZK5

    <p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

    <p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

    Detected in blood plasma (at protein level). Widely expressed, with most abundant expression in human adult heart, lung, lymphoblasts, and placenta as well as fetal lung, liver, and kidney. In embryo, expressed in the outflow tract and atrium of the developing heart, the VII/VIII cranial nerve ganglion, and the notochord.1 Publication

    Gene expression databases

    Bgee dataBase for Gene Expression Evolution

    More...
    Bgeei
    ENSG00000093072 Expressed in 197 organ(s), highest expression level in leukocyte

    ExpressionAtlas, Differential and Baseline Expression

    More...
    ExpressionAtlasi
    Q9NZK5 baseline and differential

    Genevisible search portal to normalized and curated expression data from Genevestigator

    More...
    Genevisiblei
    Q9NZK5 HS

    Organism-specific databases

    Human Protein Atlas

    More...
    HPAi
    HPA007888

    <p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

    <p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

    Homodimer.

    Interacts with adenosine receptors. Binds heparin.

    2 Publications

    GO - Molecular functioni

    Protein-protein interaction databases

    The Biological General Repository for Interaction Datasets (BioGrid)

    More...
    BioGridi
    119736, 1 interactor

    STRING: functional protein association networks

    More...
    STRINGi
    9606.ENSP00000382731

    <p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

    Secondary structure

    1511
    Legend: HelixTurnBeta strandPDB Structure known for this area
    Show more details

    3D structure databases

    SWISS-MODEL Repository - a database of annotated 3D protein structure models

    More...
    SMRi
    Q9NZK5

    Database of comparative protein structure models

    More...
    ModBasei
    Search...

    Miscellaneous databases

    Relative evolutionary importance of amino acids within a protein sequence

    More...
    EvolutionaryTracei
    Q9NZK5

    <p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

    Region

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    <p>This subsection of the ‘Family and Domains’ section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni30 – 100DimerizationAdd BLAST71
    Regioni127 – 185PRB domainAdd BLAST59
    Regioni204 – 211Substrate binding8

    <p>This subsection of the ‘Family and domains’ section provides general information on the biological role of a domain. The term ‘domain’ is intended here in its wide acceptation, it may be a structural domain, a transmembrane region or a functional domain. Several domains are described in this subsection.<p><a href='/help/domain_cc' target='_top'>More...</a></p>Domaini

    The PRB domain is involved in receptor binding, and may be responsible for the cytokine-like growth factor activity due to it's sharing of several structural properties with chemokines.1 Publication
    High-affinity binding to heparin/glycosaminoclycan (GAG) is mediated by a large, highly positively charged surface at the interface of dimer's subunits involving approximately residues 30-45, 389-396, and 422-428.1 Publication

    <p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

    Keywords - Domaini

    Signal

    Phylogenomic databases

    evolutionary genealogy of genes: Non-supervised Orthologous Groups

    More...
    eggNOGi
    KOG1097 Eukaryota
    COG1816 LUCA

    Ensembl GeneTree

    More...
    GeneTreei
    ENSGT00950000183113

    The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

    More...
    HOGENOMi
    HOG000044097

    InParanoid: Eukaryotic Ortholog Groups

    More...
    InParanoidi
    Q9NZK5

    KEGG Orthology (KO)

    More...
    KOi
    K19572

    Identification of Orthologs from Complete Genome Data

    More...
    OMAi
    SMHFFQA

    Database of Orthologous Groups

    More...
    OrthoDBi
    430357at2759

    Database for complete collections of gene phylogenies

    More...
    PhylomeDBi
    Q9NZK5

    TreeFam database of animal gene trees

    More...
    TreeFami
    TF324524

    Family and domain databases

    Integrated resource of protein families, domains and functional sites

    More...
    InterProi
    View protein in InterPro
    IPR001365 A/AMP_deaminase_dom
    IPR013659 A_deaminase_N
    IPR006331 ADGF
    IPR032466 Metal_Hydrolase

    Pfam protein domain database

    More...
    Pfami
    View protein in Pfam
    PF00962 A_deaminase, 1 hit
    PF08451 A_deaminase_N, 1 hit

    Superfamily database of structural and functional annotation

    More...
    SUPFAMi
    SSF51556 SSF51556, 1 hit

    TIGRFAMs; a protein family database

    More...
    TIGRFAMsi
    TIGR01431 adm_rel, 1 hit

    <p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (2+)i

    <p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

    <p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

    This entry describes 2 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

    This entry has 2 described isoforms and 7 potential isoforms that are computationally mapped.Show allAlign All

    Isoform 1 (identifier: Q9NZK5-1) [UniParc]FASTAAdd to basket

    This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

    « Hide
            10         20         30         40         50
    MLVDGPSERP ALCFLLLAVA MSFFGSALSI DETRAHLLLK EKMMRLGGRL
    60 70 80 90 100
    VLNTKEELAN ERLMTLKIAE MKEAMRTLIF PPSMHFFQAK HLIERSQVFN
    110 120 130 140 150
    ILRMMPKGAA LHLHDIGIVT MDWLVRNVTY RPHCHICFTP RGIMQFRFAH
    160 170 180 190 200
    PTPRPSEKCS KWILLEDYRK RVQNVTEFDD SLLRNFTLVT QHPEVIYTNQ
    210 220 230 240 250
    NVVWSKFETI FFTISGLIHY APVFRDYVFR SMQEFYEDNV LYMEIRARLL
    260 270 280 290 300
    PVYELSGEHH DEEWSVKTYQ EVAQKFVETH PEFIGIKIIY SDHRSKDVAV
    310 320 330 340 350
    IAESIRMAMG LRIKFPTVVA GFDLVGHEDT GHSLHDYKEA LMIPAKDGVK
    360 370 380 390 400
    LPYFFHAGET DWQGTSIDRN ILDALMLNTT RIGHGFALSK HPAVRTYSWK
    410 420 430 440 450
    KDIPIEVCPI SNQVLKLVSD LRNHPVATLM ATGHPMVISS DDPAMFGAKG
    460 470 480 490 500
    LSYDFYEVFM GIGGMKADLR TLKQLAMNSI KYSTLLESEK NTFMEIWKKR
    510
    WDKFIADVAT K
    Length:511
    Mass (Da):58,934
    Last modified:January 9, 2007 - v2
    <p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:iA4AB0A83E8A0611E
    GO
    Isoform 2 (identifier: Q9NZK5-2) [UniParc]FASTAAdd to basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-241: Missing.
         242-251: YMEIRARLLP → MDSLEWNWAL

    Show »
    Length:270
    Mass (Da):30,668
    Checksum:iC526359224344500
    GO

    <p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

    There are 7 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
    EntryEntry nameProtein names
    Gene namesLengthAnnotation
    B4E3Q4B4E3Q4_HUMAN
    Adenosine deaminase 2
    ADA2
    469Annotation score:

    Annotation score:1 out of 5

    <p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
    A0A087X0I3A0A087X0I3_HUMAN
    Adenosine deaminase 2
    ADA2
    391Annotation score:

    Annotation score:1 out of 5

    <p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
    C9IZA8C9IZA8_HUMAN
    Adenosine deaminase 2
    ADA2
    135Annotation score:

    Annotation score:1 out of 5

    <p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
    F5H7J3F5H7J3_HUMAN
    Adenosine deaminase 2
    ADA2
    152Annotation score:

    Annotation score:1 out of 5

    <p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
    A0A3B3IT96A0A3B3IT96_HUMAN
    Adenosine deaminase 2
    ADA2
    130Annotation score:

    Annotation score:1 out of 5

    <p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
    A0A3B3IRN1A0A3B3IRN1_HUMAN
    Adenosine deaminase 2
    ADA2
    24Annotation score:

    Annotation score:1 out of 5

    <p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
    A0A3B3IRR5A0A3B3IRR5_HUMAN
    Adenosine deaminase 2
    ADA2
    69Annotation score:

    Annotation score:1 out of 5

    <p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

    Experimental Info

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    <p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti359E → G in BAC11148 (PubMed:14702039).Curated1
    Sequence conflicti394V → L in AAH51755 (PubMed:15489334).Curated1

    Natural variant

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    Natural variantiVAR_07113747G → R in VAIHS; there is a decreased expression of the mutant protein compared to wild-type. 2 PublicationsCorresponds to variant dbSNP:rs202134424Ensembl.1
    Natural variantiVAR_07113847G → V in VAIHS. 1 PublicationCorresponds to variant dbSNP:rs200930463EnsemblClinVar.1
    Natural variantiVAR_071139109A → D in VAIHS. 1 PublicationCorresponds to variant dbSNP:rs587777240EnsemblClinVar.1
    Natural variantiVAR_071140112H → Q in VAIHS. 1 PublicationCorresponds to variant dbSNP:rs587777241EnsemblClinVar.1
    Natural variantiVAR_072562119V → A in SNDNS. 1 Publication1
    Natural variantiVAR_072563142G → S in SNDNS. 1 Publication1
    Natural variantiVAR_071141169R → Q in VAIHS. 2 PublicationsCorresponds to variant dbSNP:rs77563738EnsemblClinVar.1
    Natural variantiVAR_071142251P → L in VAIHS. 1 PublicationCorresponds to variant dbSNP:rs148936893EnsemblClinVar.1
    Natural variantiVAR_071143264W → S in VAIHS. 1 PublicationCorresponds to variant dbSNP:rs587777242EnsemblClinVar.1
    Natural variantiVAR_029802335H → R2 PublicationsCorresponds to variant dbSNP:rs2231495Ensembl.1
    Natural variantiVAR_071144453Y → C in VAIHS. 1 PublicationCorresponds to variant dbSNP:rs376785840EnsemblClinVar.1

    Alternative sequence

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    <p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_0415091 – 241Missing in isoform 2. 1 PublicationAdd BLAST241
    Alternative sequenceiVSP_041510242 – 251YMEIRARLLP → MDSLEWNWAL in isoform 2. 1 Publication10

    Sequence databases

    Select the link destinations:

    EMBL nucleotide sequence database

    More...
    EMBLi

    GenBank nucleotide sequence database

    More...
    GenBanki

    DNA Data Bank of Japan; a nucleotide sequence database

    More...
    DDBJi
    Links Updated
    AF190746 mRNA Translation: AAF65941.1
    CR456417 mRNA Translation: CAG30303.1
    AK027682 mRNA Translation: BAB55293.1
    AK292689 mRNA Translation: BAF85378.1
    AK074702 mRNA Translation: BAC11148.1
    AC005300 Genomic DNA No translation available.
    CH471193 Genomic DNA Translation: EAW57750.1
    BC051755 mRNA Translation: AAH51755.1

    The Consensus CDS (CCDS) project

    More...
    CCDSi
    CCDS13742.1 [Q9NZK5-1]
    CCDS13743.1 [Q9NZK5-2]

    NCBI Reference Sequences

    More...
    RefSeqi
    NP_001269154.1, NM_001282225.1 [Q9NZK5-1]
    NP_001269155.1, NM_001282226.1 [Q9NZK5-1]
    NP_001269156.1, NM_001282227.1
    NP_001269157.1, NM_001282228.1
    NP_001269158.1, NM_001282229.1
    NP_803124.1, NM_177405.2 [Q9NZK5-2]
    XP_011544435.1, XM_011546133.1 [Q9NZK5-1]

    Genome annotation databases

    Ensembl eukaryotic genome annotation project

    More...
    Ensembli
    ENST00000262607; ENSP00000262607; ENSG00000093072 [Q9NZK5-1]
    ENST00000330232; ENSP00000332871; ENSG00000093072 [Q9NZK5-2]
    ENST00000399837; ENSP00000382731; ENSG00000093072 [Q9NZK5-1]
    ENST00000399839; ENSP00000382733; ENSG00000093072 [Q9NZK5-1]
    ENST00000647714; ENSP00000497821; ENSG00000093072 [Q9NZK5-1]

    Database of genes from NCBI RefSeq genomes

    More...
    GeneIDi
    51816

    KEGG: Kyoto Encyclopedia of Genes and Genomes

    More...
    KEGGi
    hsa:51816

    UCSC genome browser

    More...
    UCSCi
    uc002zmj.3 human [Q9NZK5-1]

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    <p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

    <p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBLi
    GenBanki
    DDBJi
    Links Updated
    AF190746 mRNA Translation: AAF65941.1
    CR456417 mRNA Translation: CAG30303.1
    AK027682 mRNA Translation: BAB55293.1
    AK292689 mRNA Translation: BAF85378.1
    AK074702 mRNA Translation: BAC11148.1
    AC005300 Genomic DNA No translation available.
    CH471193 Genomic DNA Translation: EAW57750.1
    BC051755 mRNA Translation: AAH51755.1
    CCDSiCCDS13742.1 [Q9NZK5-1]
    CCDS13743.1 [Q9NZK5-2]
    RefSeqiNP_001269154.1, NM_001282225.1 [Q9NZK5-1]
    NP_001269155.1, NM_001282226.1 [Q9NZK5-1]
    NP_001269156.1, NM_001282227.1
    NP_001269157.1, NM_001282228.1
    NP_001269158.1, NM_001282229.1
    NP_803124.1, NM_177405.2 [Q9NZK5-2]
    XP_011544435.1, XM_011546133.1 [Q9NZK5-1]

    3D structure databases

    Select the link destinations:

    Protein Data Bank Europe

    More...
    PDBei

    Protein Data Bank RCSB

    More...
    RCSB PDBi

    Protein Data Bank Japan

    More...
    PDBji
    Links Updated
    PDB entryMethodResolution (Å)ChainPositionsPDBsum
    3LGDX-ray2.00A/B29-511[»]
    3LGGX-ray2.50A/B29-511[»]
    SMRiQ9NZK5
    ModBaseiSearch...

    Protein-protein interaction databases

    BioGridi119736, 1 interactor
    STRINGi9606.ENSP00000382731

    PTM databases

    GlyConnecti1912
    iPTMnetiQ9NZK5
    PhosphoSitePlusiQ9NZK5

    Polymorphism and mutation databases

    BioMutaiADA2
    DMDMi122065151

    Proteomic databases

    jPOSTiQ9NZK5
    MaxQBiQ9NZK5
    PaxDbiQ9NZK5
    PeptideAtlasiQ9NZK5
    PRIDEiQ9NZK5
    ProteomicsDBi83424 [Q9NZK5-1]
    83425 [Q9NZK5-2]
    TopDownProteomicsiQ9NZK5-1 [Q9NZK5-1]

    Protocols and materials databases

    The DNASU plasmid repository

    More...
    DNASUi
    51816
    Structural Biology KnowledgebaseSearch...

    Genome annotation databases

    EnsembliENST00000262607; ENSP00000262607; ENSG00000093072 [Q9NZK5-1]
    ENST00000330232; ENSP00000332871; ENSG00000093072 [Q9NZK5-2]
    ENST00000399837; ENSP00000382731; ENSG00000093072 [Q9NZK5-1]
    ENST00000399839; ENSP00000382733; ENSG00000093072 [Q9NZK5-1]
    ENST00000647714; ENSP00000497821; ENSG00000093072 [Q9NZK5-1]
    GeneIDi51816
    KEGGihsa:51816
    UCSCiuc002zmj.3 human [Q9NZK5-1]

    Organism-specific databases

    Comparative Toxicogenomics Database

    More...
    CTDi
    51816
    DisGeNETi51816

    GeneCards: human genes, protein and diseases

    More...
    GeneCardsi
    ADA2
    HGNCiHGNC:1839 ADA2
    HPAiHPA007888
    MalaCardsiADA2
    MIMi182410 phenotype
    607575 gene
    615688 phenotype
    neXtProtiNX_Q9NZK5
    OpenTargetsiENSG00000093072
    Orphaneti124 Blackfan-Diamond anemia
    820 Sneddon syndrome
    404553 Vasculitis due to ADA2 deficiency
    PharmGKBiPA26382

    GenAtlas: human gene database

    More...
    GenAtlasi
    Search...

    Phylogenomic databases

    eggNOGiKOG1097 Eukaryota
    COG1816 LUCA
    GeneTreeiENSGT00950000183113
    HOGENOMiHOG000044097
    InParanoidiQ9NZK5
    KOiK19572
    OMAiSMHFFQA
    OrthoDBi430357at2759
    PhylomeDBiQ9NZK5
    TreeFamiTF324524

    Enzyme and pathway databases

    BRENDAi3.5.4.4 2681
    ReactomeiR-HSA-5683826 Surfactant metabolism
    R-HSA-6798695 Neutrophil degranulation

    Miscellaneous databases

    ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

    More...
    ChiTaRSi
    CECR1 human
    EvolutionaryTraceiQ9NZK5

    The Gene Wiki collection of pages on human genes and proteins

    More...
    GeneWikii
    CECR1

    Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

    More...
    GenomeRNAii
    51816

    Protein Ontology

    More...
    PROi
    PR:Q9NZK5

    The Stanford Online Universal Resource for Clones and ESTs

    More...
    SOURCEi
    Search...

    Gene expression databases

    BgeeiENSG00000093072 Expressed in 197 organ(s), highest expression level in leukocyte
    ExpressionAtlasiQ9NZK5 baseline and differential
    GenevisibleiQ9NZK5 HS

    Family and domain databases

    InterProiView protein in InterPro
    IPR001365 A/AMP_deaminase_dom
    IPR013659 A_deaminase_N
    IPR006331 ADGF
    IPR032466 Metal_Hydrolase
    PfamiView protein in Pfam
    PF00962 A_deaminase, 1 hit
    PF08451 A_deaminase_N, 1 hit
    SUPFAMiSSF51556 SSF51556, 1 hit
    TIGRFAMsiTIGR01431 adm_rel, 1 hit

    ProtoNet; Automatic hierarchical classification of proteins

    More...
    ProtoNeti
    Search...

    MobiDB: a database of protein disorder and mobility annotations

    More...
    MobiDBi
    Search...

    <p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

    <p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiADA2_HUMAN
    <p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q9NZK5
    Secondary accession number(s): A8K9H4
    , Q6ICF1, Q86UB6, Q8NCJ2, Q96K41
    <p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: April 16, 2002
    Last sequence update: January 9, 2007
    Last modified: July 31, 2019
    This is version 152 of the entry and version 2 of the sequence. See complete history.
    <p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
    Annotation programChordata Protein Annotation Program
    DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

    <p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

    Keywords - Technical termi

    3D-structure, Complete proteome, Reference proteome

    Documents

    1. PDB cross-references
      Index of Protein Data Bank (PDB) cross-references
    2. SIMILARITY comments
      Index of protein domains and families
    3. Human chromosome 22
      Human chromosome 22: entries, gene names and cross-references to MIM
    4. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    5. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    6. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    UniProt is an ELIXIR core data resource
    Main funding by: National Institutes of Health

    We'd like to inform you that we have updated our Privacy Notice to comply with Europe’s new General Data Protection Regulation (GDPR) that applies since 25 May 2018.

    Do not show this banner again