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Entry version 177 (18 Sep 2019)
Sequence version 3 (06 Mar 2007)
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Protein

Brefeldin A-inhibited guanine nucleotide-exchange protein 2

Gene

ARFGEF2

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

Promotes guanine-nucleotide exchange on ARF1 and ARF3 and to a lower extent on ARF5 and ARF6. Promotes the activation of ARF1/ARF5/ARF6 through replacement of GDP with GTP. Involved in the regulation of Golgi vesicular transport. Required for the integrity of the endosomal compartment. Involved in trafficking from the trans-Golgi network (TGN) to endosomes and is required for membrane association of the AP-1 complex and GGA1. Seems to be involved in recycling of the transferrin receptor from recycling endosomes to the plasma membrane. Probably is involved in the exit of GABA(A) receptors from the endoplasmic reticulum. Involved in constitutive release of tumor necrosis factor receptor 1 via exosome-like vesicles; the function seems to involve PKA and specifically PRKAR2B. Proposed to act as A kinase-anchoring protein (AKAP) and may mediate crosstalk between Arf and PKA pathways.7 Publications

<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section describes regulatory mechanisms for enzymes, transporters or microbial transcription factors, and reports the components which regulate (by activation or inhibition) the reaction.<p><a href='/help/activity_regulation' target='_top'>More...</a></p>Activity regulationi

Inhibited by brefeldin A.

<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 functionGuanine-nucleotide releasing factor
Biological processProtein transport, Transport

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-390471 Association of TriC/CCT with target proteins during biosynthesis

<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:
Brefeldin A-inhibited guanine nucleotide-exchange protein 2
Short name:
Brefeldin A-inhibited GEP 2
Alternative name(s):
ADP-ribosylation factor guanine nucleotide-exchange factor 2
<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:ARFGEF2
Synonyms:ARFGEP2, BIG2
<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 20

Organism-specific databases

Human Gene Nomenclature Database

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HGNCi
HGNC:15853 ARFGEF2

Online Mendelian Inheritance in Man (OMIM)

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MIMi
605371 gene

neXtProt; the human protein knowledge platform

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neXtProti
NX_Q9Y6D5

<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

Cell junction, Cell projection, Cytoplasm, Cytoplasmic vesicle, Cytoskeleton, Endosome, Golgi apparatus, Membrane, Synapse

<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

Periventricular nodular heterotopia 2 (PVNH2)3 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA developmental disorder characterized by the presence of periventricular nodules of cerebral gray matter, resulting from a failure of neurons to migrate normally from the lateral ventricular proliferative zone, where they are formed, to the cerebral cortex. PVNH2 is an autosomal recessive form characterized by microcephaly (small brain), severe developmental delay and recurrent infections. No anomalies extrinsic to the central nervous system, such as dysmorphic features or grossly abnormal endocrine or other conditions, are associated with PVNH2.
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_037438209E → K in PVNH2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs28937880EnsemblClinVar.1

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>Mutagenesisi289V → W: Abolishes interaction with PRKAR2B and impairs TNFRSF1A release. 1 Publication1
Mutagenesisi534V → W: Abolishes interaction with PRKAR2B and impairs TNFRSF1A release. 1 Publication1
Mutagenesisi738E → K: Disturbs membrane organization at the TGN, impairs association of the AP-1 complex and GGA1 with the TGN membranes. 2 Publications1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNET

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DisGeNETi
10564

MalaCards human disease database

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MalaCardsi
ARFGEF2
MIMi608097 phenotype

Open Targets

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OpenTargetsi
ENSG00000124198

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

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Orphaneti
98892 Periventricular nodular heterotopia

The Pharmacogenetics and Pharmacogenomics Knowledge Base

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PharmGKBi
PA24945

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

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ChEMBLi
CHEMBL4105732

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

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BioMutai
ARFGEF2

Domain mapping of disease mutations (DMDM)

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DMDMi
146329988

<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 describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00001202081 – 1785Brefeldin A-inhibited guanine nucleotide-exchange protein 2Add BLAST1785

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei1N-acetylmethionineCombined sources1
Modified residuei214PhosphoserineCombined sources1
Modified residuei218PhosphoserineCombined sources1
Modified residuei227PhosphoserineCombined sources1
Modified residuei244PhosphothreonineCombined sources1
Modified residuei277PhosphoserineCombined sources1
Modified residuei348PhosphoserineBy similarity1
Modified residuei349PhosphoserineCombined sources1
Modified residuei614PhosphoserineCombined sources1
Modified residuei616PhosphothreonineBy similarity1
Modified residuei617PhosphoserineBy similarity1
Modified residuei626PhosphothreonineBy similarity1
Modified residuei700PhosphoserineCombined sources1
Modified residuei1511PhosphoserineCombined sources1
Modified residuei1513PhosphoserineBy similarity1
Modified residuei1514PhosphoserineBy similarity1
Modified residuei1525PhosphoserineCombined sources1
Modified residuei1528PhosphoserineCombined sources1
Modified residuei1534PhosphoserineBy similarity1
Modified residuei1782PhosphoserineCombined sources1

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi

In vitro phosphorylated by PKA reducing its GEF activity and dephosphorylated by phosphatase PP1.1 Publication

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
Q9Y6D5

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
Q9Y6D5

MassIVE - Mass Spectrometry Interactive Virtual Environment

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MassIVEi
Q9Y6D5

MaxQB - The MaxQuant DataBase

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MaxQBi
Q9Y6D5

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

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PaxDbi
Q9Y6D5

PeptideAtlas

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PeptideAtlasi
Q9Y6D5

PRoteomics IDEntifications database

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PRIDEi
Q9Y6D5

ProteomicsDB human proteome resource

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ProteomicsDBi
86654

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
Q9Y6D5

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

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PhosphoSitePlusi
Q9Y6D5

<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

Expressed in placenta, lung, heart, brain, kidney and pancreas.

Gene expression databases

Bgee dataBase for Gene Expression Evolution

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Bgeei
ENSG00000124198 Expressed in 235 organ(s), highest expression level in caput epididymis

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
Q9Y6D5 HS

Organism-specific databases

Human Protein Atlas

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HPAi
CAB026382
HPA026078

<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 (Probable).

Interacts with ARFGEF1/BIG1; both proteins are probably part of the same or very similar macromolecular complexes.

Interacts with PRKAR1A, PRKAR2A, PRKAR1B, PRKAR2B, PPP1CC, PDE3A, TNFRSF1A, MYCBP and EXOC7.

Interacts with GABRB1, GABRB2 and GABRB3 (By similarity).

By similarityCurated

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section%27">Interaction</a> section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
115815, 62 interactors

Database of interacting proteins

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DIPi
DIP-48794N

Protein interaction database and analysis system

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IntActi
Q9Y6D5, 33 interactors

Molecular INTeraction database

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MINTi
Q9Y6D5

STRING: functional protein association networks

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STRINGi
9606.ENSP00000360985

<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

11785
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

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SMRi
Q9Y6D5

Database of comparative protein structure models

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ModBasei
Search...

<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

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family_and_domains_section">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini654 – 785SEC7PROSITE-ProRule annotationAdd BLAST132

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>Regioni2 – 224DCB; DCB:DCB domain and DCB:HUS domain interactionAdd BLAST223
Regioni508 – 528HUS; DCB:HUS domain interactionAdd BLAST21

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
KOG0929 Eukaryota
COG5307 LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00940000158950

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
HOG000181045

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q9Y6D5

KEGG Orthology (KO)

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KOi
K18442

Identification of Orthologs from Complete Genome Data

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OMAi
DQLDFCG

Database of Orthologous Groups

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OrthoDBi
815698at2759

Database for complete collections of gene phylogenies

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PhylomeDBi
Q9Y6D5

TreeFam database of animal gene trees

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TreeFami
TF300714

Family and domain databases

Conserved Domains Database

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CDDi
cd00171 Sec7, 1 hit

Gene3D Structural and Functional Annotation of Protein Families

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Gene3Di
1.10.1000.11, 1 hit

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR016024 ARM-type_fold
IPR032629 DCB_dom
IPR015403 Sec7_C
IPR023394 Sec7_C_sf
IPR000904 Sec7_dom
IPR035999 Sec7_dom_sf
IPR032691 Sec7_N

Pfam protein domain database

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Pfami
View protein in Pfam
PF16213 DCB, 1 hit
PF09324 DUF1981, 1 hit
PF01369 Sec7, 1 hit
PF12783 Sec7_N, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

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SMARTi
View protein in SMART
SM00222 Sec7, 1 hit

Superfamily database of structural and functional annotation

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SUPFAMi
SSF48371 SSF48371, 1 hit
SSF48425 SSF48425, 1 hit

PROSITE; a protein domain and family database

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PROSITEi
View protein in PROSITE
PS50190 SEC7, 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>Sequencei

<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.

Q9Y6D5-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MQESQTKSMF VSRALEKILA DKEVKRPQHS QLRRACQVAL DEIKAEIEKQ
60 70 80 90 100
RLGTAAPPKA NFIEADKYFL PFELACQSKS PRVVSTSLDC LQKLIAYGHI
110 120 130 140 150
TGNAPDSGAP GKRLIDRIVE TICSCFQGPQ TDEGVQLQII KALLTAVTSP
160 170 180 190 200
HIEIHEGTIL QTVRTCYNIY LASKNLINQT TAKATLTQML NVIFTRMENQ
210 220 230 240 250
VLQEARELEK PIQSKPQSPV IQAAAVSPKF VRLKHSQAQS KPTTPEKTDL
260 270 280 290 300
TNGEHARSDS GKVSTENGDA PRERGSSLSG TDDGAQEVVK DILEDVVTSA
310 320 330 340 350
IKEAAEKHGL TEPERVLGEL ECQECAIPPG VDENSQTNGI ADDRQSLSSA
360 370 380 390 400
DNLESDAQGH QVAARFSHVL QKDAFLVFRS LCKLSMKPLG EGPPDPKSHE
410 420 430 440 450
LRSKVVSLQL LLSVLQNAGP VFRTHEMFIN AIKQYLCVAL SKNGVSSVPD
460 470 480 490 500
VFELSLAIFL TLLSNFKMHL KMQIEVFFKE IFLNILETST SSFEHRWMVI
510 520 530 540 550
QTLTRICADA QCVVDIYVNY DCDLNAANIF ERLVNDLSKI AQGRSGHELG
560 570 580 590 600
MTPLQELSLR KKGLECLVSI LKCMVEWSKD LYVNPNHQTS LGQERLTDQE
610 620 630 640 650
IGDGKGLDMA RRCSVTSMES TVSSGTQTTV QDDPEQFEVI KQQKEIIEHG
660 670 680 690 700
IELFNKKPKR GIQFLQEQGM LGTSVEDIAQ FLHQEERLDS TQVGDFLGDS
710 720 730 740 750
ARFNKEVMYA YVDQLDFCEK EFVSALRTFL EGFRLPGEAQ KIDRLMEKFA
760 770 780 790 800
ARYIECNQGQ TLFASADTAY VLAYSIIMLT TDLHSPQVKN KMTKEQYIKM
810 820 830 840 850
NRGINDSKDL PEEYLSSIYE EIEGKKIAMK ETKELTIATK STKQNVASEK
860 870 880 890 900
QRRLLYNLEM EQMAKTAKAL MEAVSHAKAP FTSATHLDHV RPMFKLVWTP
910 920 930 940 950
LLAAYSIGLQ NCDDTEVASL CLEGIRCAIR IACIFGMQLE RDAYVQALAR
960 970 980 990 1000
FSLLTASSSI TEMKQKNIDT IKTLITVAHT DGNYLGNSWH EILKCISQLE
1010 1020 1030 1040 1050
LAQLIGTGVK TRYLSGSGRE REGSLKGHTL AGEEFMGLGL GNLVSGGVDK
1060 1070 1080 1090 1100
RQMASFQESV GETSSQSVVV AVDRIFTGST RLDGNAIVDF VRWLCAVSMD
1110 1120 1130 1140 1150
ELASPHHPRM FSLQKIVEIS YYNMNRIRLQ WSRIWHVIGD HFNKVGCNPN
1160 1170 1180 1190 1200
EDVAIFAVDS LRQLSMKFLE KGELANFRFQ KDFLRPFEHI MKKNRSPTIR
1210 1220 1230 1240 1250
DMAIRCIAQM VNSQAANIRS GWKNIFAVFH QAASDHDGNI VELAFQTTCH
1260 1270 1280 1290 1300
IVTTIFQHHF PAAIDSFQDA VKCLSEFACN AAFPDTSMEA IRLIRFCGKY
1310 1320 1330 1340 1350
VSERPRVLQE YTSDDMNVAP GDRVWVRGWF PILFELSCII NRCKLDVRTR
1360 1370 1380 1390 1400
GLTVMFEIMK SYGHTFEKHW WQDLFRIVFR IFDNMKLPEQ LSEKSEWMTT
1410 1420 1430 1440 1450
TCNHALYAIC DVFTQFYEAL NEVLLSDVFA QLQWCVKQDN EQLARSGTNC
1460 1470 1480 1490 1500
LENLVISNGE KFSPEVWDET CNCMLDIFKT TIPHVLLTWR PVGMEEDSSE
1510 1520 1530 1540 1550
KHLDVDLDRQ SLSSIDKNPS ERGQSQLSNP TDDSWKGRPY ANQKLFASLL
1560 1570 1580 1590 1600
IKCVVQLELI QTIDNIVFYP ATSKKEDAEH MVAAQQDTLD ADIHIETEDQ
1610 1620 1630 1640 1650
GMYKYMSSQH LFKLLDCLQE SHSFSKAFNS NYEQRTVLWR AGFKGKSKPN
1660 1670 1680 1690 1700
LLKQETSSLA CCLRILFRMY VDENRRDSWE EIQQRLLTVC SEALAYFITV
1710 1720 1730 1740 1750
NSESHREAWT SLLLLLLTKT LKINDEKFKA HASMYYPYLC EIMQFDLIPE
1760 1770 1780
LRAVLRKFFL RIGVVYKIWI PEEPSQVPAA LSPVW
Length:1,785
Mass (Da):202,038
Last modified:March 6, 2007 - v3
<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:iD419106E5BAF19C2
GO

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 conflicti207E → R in AAD38428 (PubMed:10212200).Curated1
Sequence conflicti962E → K in AAD38428 (PubMed:10212200).Curated1
Sequence conflicti1049D → N in AAD38428 (PubMed:10212200).Curated1
Sequence conflicti1763G → S in AAD38428 (PubMed:10212200).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_037438209E → K in PVNH2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs28937880EnsemblClinVar.1
Natural variantiVAR_028750527A → V. Corresponds to variant dbSNP:rs6063343Ensembl.1
Natural variantiVAR_036156794K → E in a breast cancer sample; somatic mutation. 1 Publication1
Natural variantiVAR_069404802R → Q1 PublicationCorresponds to variant dbSNP:rs748482139Ensembl.1

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

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EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

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DDBJi
Links Updated
AF084521 mRNA Translation: AAD38428.1
AL049537 Genomic DNA No translation available.
AL121903 Genomic DNA No translation available.

The Consensus CDS (CCDS) project

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CCDSi
CCDS13411.1

NCBI Reference Sequences

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RefSeqi
NP_006411.2, NM_006420.2

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000371917; ENSP00000360985; ENSG00000124198

Database of genes from NCBI RefSeq genomes

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GeneIDi
10564

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:10564

UCSC genome browser

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UCSCi
uc002xtx.5 human

Keywords - Coding sequence diversityi

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
AF084521 mRNA Translation: AAD38428.1
AL049537 Genomic DNA No translation available.
AL121903 Genomic DNA No translation available.
CCDSiCCDS13411.1
RefSeqiNP_006411.2, NM_006420.2

3D structure databases

Select the link destinations:

Protein Data Bank Europe

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PDBei

Protein Data Bank RCSB

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RCSB PDBi

Protein Data Bank Japan

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PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
3L8NX-ray2.86A635-836[»]
3SWVX-ray3.00A635-836[»]
SMRiQ9Y6D5
ModBaseiSearch...

Protein-protein interaction databases

BioGridi115815, 62 interactors
DIPiDIP-48794N
IntActiQ9Y6D5, 33 interactors
MINTiQ9Y6D5
STRINGi9606.ENSP00000360985

Chemistry databases

ChEMBLiCHEMBL4105732

PTM databases

iPTMnetiQ9Y6D5
PhosphoSitePlusiQ9Y6D5

Polymorphism and mutation databases

BioMutaiARFGEF2
DMDMi146329988

Proteomic databases

EPDiQ9Y6D5
jPOSTiQ9Y6D5
MassIVEiQ9Y6D5
MaxQBiQ9Y6D5
PaxDbiQ9Y6D5
PeptideAtlasiQ9Y6D5
PRIDEiQ9Y6D5
ProteomicsDBi86654

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000371917; ENSP00000360985; ENSG00000124198
GeneIDi10564
KEGGihsa:10564
UCSCiuc002xtx.5 human

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
10564
DisGeNETi10564

GeneCards: human genes, protein and diseases

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GeneCardsi
ARFGEF2
HGNCiHGNC:15853 ARFGEF2
HPAiCAB026382
HPA026078
MalaCardsiARFGEF2
MIMi605371 gene
608097 phenotype
neXtProtiNX_Q9Y6D5
OpenTargetsiENSG00000124198
Orphaneti98892 Periventricular nodular heterotopia
PharmGKBiPA24945

GenAtlas: human gene database

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GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG0929 Eukaryota
COG5307 LUCA
GeneTreeiENSGT00940000158950
HOGENOMiHOG000181045
InParanoidiQ9Y6D5
KOiK18442
OMAiDQLDFCG
OrthoDBi815698at2759
PhylomeDBiQ9Y6D5
TreeFamiTF300714

Enzyme and pathway databases

ReactomeiR-HSA-390471 Association of TriC/CCT with target proteins during biosynthesis

Miscellaneous databases

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

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ChiTaRSi
ARFGEF2 human

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
ARFGEF2

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

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GenomeRNAii
10564

Pharos

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Pharosi
Q9Y6D5

Protein Ontology

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PROi
PR:Q9Y6D5

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000124198 Expressed in 235 organ(s), highest expression level in caput epididymis
GenevisibleiQ9Y6D5 HS

Family and domain databases

CDDicd00171 Sec7, 1 hit
Gene3Di1.10.1000.11, 1 hit
InterProiView protein in InterPro
IPR016024 ARM-type_fold
IPR032629 DCB_dom
IPR015403 Sec7_C
IPR023394 Sec7_C_sf
IPR000904 Sec7_dom
IPR035999 Sec7_dom_sf
IPR032691 Sec7_N
PfamiView protein in Pfam
PF16213 DCB, 1 hit
PF09324 DUF1981, 1 hit
PF01369 Sec7, 1 hit
PF12783 Sec7_N, 1 hit
SMARTiView protein in SMART
SM00222 Sec7, 1 hit
SUPFAMiSSF48371 SSF48371, 1 hit
SSF48425 SSF48425, 1 hit
PROSITEiView protein in PROSITE
PS50190 SEC7, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
Search...

MobiDB: a database of protein disorder and mobility annotations

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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 nameiBIG2_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: Q9Y6D5
Secondary accession number(s): Q5TFT9, Q9NTS1
<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: February 21, 2001
Last sequence update: March 6, 2007
Last modified: September 18, 2019
This is version 177 of the entry and version 3 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. Human chromosome 20
    Human chromosome 20: entries, gene names and cross-references to MIM
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
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