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Entry version 192 (03 Jul 2019)
Sequence version 2 (15 Jul 1999)
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Protein

Ectodysplasin-A

Gene

EDA

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

Cytokine which is involved in epithelial-mesenchymal signaling during morphogenesis of ectodermal organs. Functions as a ligand activating the DEATH-domain containing receptors EDAR and EDA2R (PubMed:8696334, PubMed:11039935, PubMed:27144394). May also play a role in cell adhesion (By similarity).By similarity3 Publications
Isoform 1: Binds only to the receptor EDAR, while isoform 3 binds exclusively to the receptor EDA2R.2 Publications
Isoform 3: Binds only to the receptor EDA2R.2 Publications

<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 functionDevelopmental protein
Biological processDifferentiation

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

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Reactomei
R-HSA-5669034 TNFs bind their physiological receptors

SIGNOR Signaling Network Open Resource

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SIGNORi
Q92838

<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:
Ectodysplasin-A
Alternative name(s):
Ectodermal dysplasia protein
Short name:
EDA protein
Cleaved into the following 2 chains:
<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:EDA
Synonyms:ED1, EDA2
<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 X

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:3157 EDA

Online Mendelian Inheritance in Man (OMIM)

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MIMi
300451 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q92838

<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

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the subcellular compartment where each non-membrane region of a membrane-spanning protein is found.<p><a href='/help/topo_dom' target='_top'>More...</a></p>Topological domaini1 – 41CytoplasmicSequence analysisAdd BLAST41
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the extent of a membrane-spanning region of the protein. It denotes the presence of both alpha-helical transmembrane regions and the membrane spanning regions of beta-barrel transmembrane proteins.<p><a href='/help/transmem' target='_top'>More...</a></p>Transmembranei42 – 62Helical; Signal-anchor for type II membrane proteinSequence analysisAdd BLAST21
Topological domaini63 – 391ExtracellularSequence analysisAdd BLAST329

Keywords - Cellular componenti

Cell membrane, Membrane, 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

Ectodermal dysplasia 1, hypohidrotic, X-linked (XHED)26 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of ectodermal dysplasia, a heterogeneous group of disorders due to abnormal development of two or more ectodermal structures. Characterized by sparse hair (atrichosis or hypotrichosis), abnormal or missing teeth and the inability to sweat due to the absence of sweat glands. It is the most common form of over 150 clinically distinct ectodermal dysplasias.
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_07531051L → Q in XHED; unknown pathological significance. 1 Publication1
Natural variantiVAR_01061154H → Y in XHED. 1 Publication1
Natural variantiVAR_01061255L → R in XHED. 1 Publication1
Natural variantiVAR_01348460C → R in XHED. 1 Publication1
Natural variantiVAR_00517961Y → H in XHED. 1 PublicationCorresponds to variant dbSNP:rs132630308EnsemblClinVar.1
Natural variantiVAR_00518063E → K in XHED. 1 PublicationCorresponds to variant dbSNP:rs132630311EnsemblClinVar.1
Natural variantiVAR_00518169R → L in XHED. 1 PublicationCorresponds to variant dbSNP:rs132630309EnsemblClinVar.1
Natural variantiVAR_075311125S → C in XHED; unknown pathological significance. 1 Publication1
Natural variantiVAR_075312132Q → P in XHED; unknown pathological significance. 1 Publication1
Natural variantiVAR_054454153R → C in XHED; abolishes proteolytic processing. 4 PublicationsCorresponds to variant dbSNP:rs397516662EnsemblClinVar.1
Natural variantiVAR_075313153R → H in XHED; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs140642493Ensembl.1
Natural variantiVAR_005182155R → C in XHED; abolishes proteolytic processing. 8 PublicationsCorresponds to variant dbSNP:rs132630312EnsemblClinVar.1
Natural variantiVAR_005183156R → C in XHED; abolishes proteolytic processing. 6 PublicationsCorresponds to variant dbSNP:rs132630313EnsemblClinVar.1
Natural variantiVAR_064858156R → G in XHED. 1 Publication1
Natural variantiVAR_005184156R → H in XHED; abolishes proteolytic processing. 7 PublicationsCorresponds to variant dbSNP:rs132630314EnsemblClinVar.1
Natural variantiVAR_054455156R → S in XHED. 1 Publication1
Natural variantiVAR_054456158K → N in XHED; abolishes proteolytic processing. 2 PublicationsCorresponds to variant dbSNP:rs727504649EnsemblClinVar.1
Natural variantiVAR_054457183 – 194Missing in XHED. 3 PublicationsAdd BLAST12
Natural variantiVAR_054458184 – 189Missing in XHED. 1 Publication6
Natural variantiVAR_054459185 – 196Missing in XHED. 3 PublicationsAdd BLAST12
Natural variantiVAR_054460189G → E in XHED. 1 Publication1
Natural variantiVAR_054461191 – 196Missing in XHED. 2 Publications6
Natural variantiVAR_064859192 – 197Missing in XHED. 1 Publication6
Natural variantiVAR_075314193 – 201Missing in XHED; unknown pathological significance. 1 Publication9
Natural variantiVAR_054462198G → A in XHED. 1 Publication1
Natural variantiVAR_054463207G → R in XHED. 1 Publication1
Natural variantiVAR_064860207G → V in XHED. 1 Publication1
Natural variantiVAR_005185209P → L in XHED. 1 PublicationCorresponds to variant dbSNP:rs132630315EnsemblClinVar.1
Natural variantiVAR_064861211T → R in XHED. 1 Publication1
Natural variantiVAR_054465218 – 223Missing in XHED. 1 Publication6
Natural variantiVAR_054464218G → D in XHED. 1 Publication1
Natural variantiVAR_075315219 – 230Missing in XHED; unknown pathological significance. 1 PublicationAdd BLAST12
Natural variantiVAR_077561221G → D in XHED; unknown pathological significance. 1 Publication1
Natural variantiVAR_005186224G → A in XHED. 1 PublicationCorresponds to variant dbSNP:rs132630316EnsemblClinVar.1
Natural variantiVAR_005187252H → L in XHED; loss of interaction with EDAR for isoform 1; decreased interaction with EDA2R for isoform 3; changed downstream signaling. 1 PublicationCorresponds to variant dbSNP:rs879255552EnsemblClinVar.1
Natural variantiVAR_013485252H → Y in XHED. 1 Publication1
Natural variantiVAR_011077255G → C in XHED. 1 Publication1
Natural variantiVAR_011078255G → D in XHED; mild. 1 PublicationCorresponds to variant dbSNP:rs1064793105EnsemblClinVar.1
Natural variantiVAR_064862266L → R in XHED. 1 Publication1
Natural variantiVAR_013486269G → V in XHED. 1 Publication1
Natural variantiVAR_011079274W → G in XHED. 2 Publications1
Natural variantiVAR_064863274W → R in XHED. 1 Publication1
Natural variantiVAR_010613291G → R in XHED. 4 PublicationsCorresponds to variant dbSNP:rs397516677EnsemblClinVar.1
Natural variantiVAR_010614291G → W in XHED. 1 Publication1
Natural variantiVAR_064864293L → P in XHED. 1 Publication1
Natural variantiVAR_064865296L → V in XHED. 1 Publication1
Natural variantiVAR_010615298D → H in XHED. 1 Publication1
Natural variantiVAR_054466298D → Y in XHED. 1 Publication1
Natural variantiVAR_064866299G → D in XHED. 1 Publication1
Natural variantiVAR_005188299G → S in XHED. 5 PublicationsCorresponds to variant dbSNP:rs397516679EnsemblClinVar.1
Natural variantiVAR_013487302F → S in XHED. 1 Publication1
Natural variantiVAR_075316304Y → H in XHED; unknown pathological significance. 1 Publication1
Natural variantiVAR_054467306Q → H in XHED. 1 Publication1
Natural variantiVAR_054468307V → G in XHED. 1 Publication1
Natural variantiVAR_075317316D → E in XHED; unknown pathological significance. 1 Publication1
Natural variantiVAR_067319319S → R in XHED. 2 Publications1
Natural variantiVAR_054469320Y → C in XHED. 1 Publication1
Natural variantiVAR_064867323V → G in XHED. 1 Publication1
Natural variantiVAR_075318332C → F in XHED; unknown pathological significance. 1 Publication1
Natural variantiVAR_011080332C → Y in XHED. 1 Publication1
Natural variantiVAR_064868338T → M in STHAGX1 and XHED. 2 PublicationsCorresponds to variant dbSNP:rs132630321EnsemblClinVar.1
Natural variantiVAR_054470343Y → C in XHED; loss of interaction with EDAR for isoform 1; decreased interaction with EDA2R for isoform 3; changed downstream signaling. 1 Publication1
Natural variantiVAR_064869346C → Y in XHED. 1 Publication1
Natural variantiVAR_005189349A → T in XHED. 4 PublicationsCorresponds to variant dbSNP:rs132630317EnsemblClinVar.1
Natural variantiVAR_075319350G → D in XHED; unknown pathological significance. 1 Publication1
Natural variantiVAR_067250354L → P in XHED. 1 Publication1
Natural variantiVAR_005190356A → D in XHED. 1 Publication1
Natural variantiVAR_064870356A → V in XHED. 1 PublicationCorresponds to variant dbSNP:rs876657639EnsemblClinVar.1
Natural variantiVAR_005191357R → P in XHED. 1 PublicationCorresponds to variant dbSNP:rs61747506EnsemblClinVar.1
Natural variantiVAR_054471358Q → E in XHED. 1 PublicationCorresponds to variant dbSNP:rs132630320EnsemblClinVar.1
Natural variantiVAR_075320358Q → H in XHED; unknown pathological significance. 1 Publication1
Natural variantiVAR_054472360I → N in XHED. 1 Publication1
Natural variantiVAR_054473372N → D in XHED. 1 Publication1
Natural variantiVAR_054474373M → I in XHED. 1 Publication1
Natural variantiVAR_054475374S → R in XHED; decreased interaction with EDAR for isoform 1; decreased interaction with EDA2R for isoform 3; changed downstream signaling. 1 Publication1
Natural variantiVAR_013488378T → M in XHED. 3 Publications1
Natural variantiVAR_054476378T → P in XHED. 1 Publication1
Natural variantiVAR_064871381G → R in XHED. 1 Publication1
Natural variantiVAR_075321381G → V in XHED; unknown pathological significance. 1 Publication1
Tooth agenesis, selective, X-linked, 1 (STHAGX1)7 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of selective tooth agenesis, a common anomaly characterized by the congenital absence of one or more teeth. Selective tooth agenesis without associated systemic disorders has sometimes been divided into 2 types: oligodontia, defined as agenesis of 6 or more permanent teeth, and hypodontia, defined as agenesis of less than 6 teeth. The number in both cases does not include absence of third molars (wisdom teeth).
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_02953465R → G in STHAGX1. 1 PublicationCorresponds to variant dbSNP:rs132630319EnsemblClinVar.1
Natural variantiVAR_071454259A → E in STHAGX1; decreased interaction with EDAR for isoform 1; decreased interaction with EDA2R for isoform 3; changed downstream signaling. 1 PublicationCorresponds to variant dbSNP:rs879255611EnsemblClinVar.1
Natural variantiVAR_071455260I → S in STHAGX1. 1 Publication1
Natural variantiVAR_071456289R → C in STHAGX1; decreased interaction with EDAR for isoform 1; decreased interaction with EDA2R for isoform 3; changed downstream signaling. 1 PublicationCorresponds to variant dbSNP:rs879255551EnsemblClinVar.1
Natural variantiVAR_071457289R → L in STHAGX1. 1 Publication1
Natural variantiVAR_071458334R → H in STHAGX1; decreased interaction with EDAR for isoform 1; decreased interaction with EDA2R for isoform 3; changed downstream signaling. 1 PublicationCorresponds to variant dbSNP:rs142948132EnsemblClinVar.1
Natural variantiVAR_064868338T → M in STHAGX1 and XHED. 2 PublicationsCorresponds to variant dbSNP:rs132630321EnsemblClinVar.1
Natural variantiVAR_071459379F → V in STHAGX1. 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>Mutagenesisi159R → A: Abolishes proteolytic processing. 1 Publication1

Keywords - Diseasei

Disease mutation, Ectodermal dysplasia

Organism-specific databases

DisGeNET

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DisGeNETi
1896

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

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GeneReviewsi
EDA

MalaCards human disease database

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MalaCardsi
EDA
MIMi305100 phenotype
313500 phenotype

Open Targets

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OpenTargetsi
ENSG00000158813

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

More...
Orphaneti
2227 NON RARE IN EUROPE: Hypodontia
99798 Oligodontia
181 X-linked hypohidrotic ectodermal dysplasia

The Pharmacogenetics and Pharmacogenomics Knowledge Base

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PharmGKBi
PA27601

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

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BioMutai
EDA

Domain mapping of disease mutations (DMDM)

More...
DMDMi
6166135

<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_00000345381 – 391Ectodysplasin-A, membrane formAdd BLAST391
ChainiPRO_0000034539160 – 391Ectodysplasin-A, secreted form1 PublicationAdd BLAST232

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>Glycosylationi313N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi372N-linked (GlcNAc...) asparagineSequence analysis1

<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

N-glycosylated.By similarity
Processing by furin produces a secreted form.1 Publication

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection describes interesting single amino acid sites on the sequence that are not defined in any other subsection. This subsection can be displayed in different sections (‘Function’, ‘PTM / Processing’, ‘Pathology and Biotech’) according to its content.<p><a href='/help/site' target='_top'>More...</a></p>Sitei159 – 160Cleavage; by furin1 Publication2

Keywords - PTMi

Cleavage on pair of basic residues, Glycoprotein

Proteomic databases

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

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PaxDbi
Q92838

PeptideAtlas

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PeptideAtlasi
Q92838

PRoteomics IDEntifications database

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PRIDEi
Q92838

ProteomicsDB human proteome resource

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ProteomicsDBi
75522
75523 [Q92838-2]
75524 [Q92838-3]
75525 [Q92838-5]
75526 [Q92838-6]
75527 [Q92838-7]
75528 [Q92838-8]
75529 [Q92838-9]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
Q92838

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

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PhosphoSitePlusi
Q92838

Miscellaneous databases

CutDB - Proteolytic event database

More...
PMAP-CutDBi
Q92838

<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

Not abundant; expressed in specific cell types of ectodermal (but not mesodermal) origin of keratinocytes, hair follicles, sweat glands. Also in adult heart, liver, muscle, pancreas, prostate, fetal liver, uterus, small intestine and umbilical chord.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000158813 Expressed in 126 organ(s), highest expression level in intestine

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
Q92838 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
Q92838 HS

Organism-specific databases

Human Protein Atlas

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HPAi
HPA037972
HPA037973

<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

Homotrimer. The homotrimers may then dimerize and form higher-order oligomers.

1 Publication

<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
108224, 85 interactors

Protein interaction database and analysis system

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IntActi
Q92838, 23 interactors

STRING: functional protein association networks

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STRINGi
9606.ENSP00000363680

<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

1391
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
Q92838

Database of comparative protein structure models

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ModBasei
Search...

Miscellaneous databases

Relative evolutionary importance of amino acids within a protein sequence

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EvolutionaryTracei
Q92838

<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>Domaini180 – 229Collagen-likeAdd BLAST50

<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

Belongs to the tumor necrosis factor family.Curated

Keywords - Domaini

Collagen, Signal-anchor, Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
ENOG410IH6U Eukaryota
ENOG41121ZD LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00730000111220

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q92838

KEGG Orthology (KO)

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KOi
K05480

Identification of Orthologs from Complete Genome Data

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OMAi
SIHHRVF

Database of Orthologous Groups

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OrthoDBi
1183050at2759

Database for complete collections of gene phylogenies

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PhylomeDBi
Q92838

TreeFam database of animal gene trees

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TreeFami
TF332099

Family and domain databases

Conserved Domains Database

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CDDi
cd00184 TNF, 1 hit

Gene3D Structural and Functional Annotation of Protein Families

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Gene3Di
2.60.120.40, 1 hit

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR006052 TNF_dom
IPR008983 Tumour_necrosis_fac-like_dom

Pfam protein domain database

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Pfami
View protein in Pfam
PF00229 TNF, 1 hit

Superfamily database of structural and functional annotation

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SUPFAMi
SSF49842 SSF49842, 1 hit

PROSITE; a protein domain and family database

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PROSITEi
View protein in PROSITE
PS50049 TNF_2, 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 (8+)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 8 <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
Note: Additional isoforms seem to exist.

This entry has 8 described isoforms and 2 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q92838-1) [UniParc]FASTAAdd to basket
Also known as: A1, II, EDA11 Publication

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
MGYPEVERRE LLPAAAPRER GSQGCGCGGA PARAGEGNSC LLFLGFFGLS
60 70 80 90 100
LALHLLTLCC YLELRSELRR ERGAESRLGG SGTPGTSGTL SSLGGLDPDS
110 120 130 140 150
PITSHLGQPS PKQQPLEPGE AALHSDSQDG HQMALLNFFF PDEKPYSEEE
160 170 180 190 200
SRRVRRNKRS KSNEGADGPV KNKKKGKKAG PPGPNGPPGP PGPPGPQGPP
210 220 230 240 250
GIPGIPGIPG TTVMGPPGPP GPPGPQGPPG LQGPSGAADK AGTRENQPAV
260 270 280 290 300
VHLQGQGSAI QVKNDLSGGV LNDWSRITMN PKVFKLHPRS GELEVLVDGT
310 320 330 340 350
YFIYSQVEVY YINFTDFASY EVVVDEKPFL QCTRSIETGK TNYNTCYTAG
360 370 380 390
VCLLKARQKI AVKMVHADIS INMSKHTTFF GAIRLGEAPA S
Length:391
Mass (Da):41,294
Last modified:July 15, 1999 - 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:i15DB3F5053293CBA
GO
Isoform 2 (identifier: Q92838-2) [UniParc]FASTAAdd to basket
Also known as: I

The sequence of this isoform differs from the canonical sequence as follows:
     133-135: MAL → GHQ
     136-391: Missing.

Show »
Length:135
Mass (Da):14,048
Checksum:i90C19D0674EC540D
GO
Isoform 3 (identifier: Q92838-3) [UniParc]FASTAAdd to basket
Also known as: A2, EDA21 Publication

The sequence of this isoform differs from the canonical sequence as follows:
     307-308: Missing.

Show »
Length:389
Mass (Da):41,065
Checksum:i9289F3104CD83454
GO
Isoform 4 (identifier: Q92838-5) [UniParc]FASTAAdd to basket
Also known as: C

The sequence of this isoform differs from the canonical sequence as follows:
     133-147: MALLNFFFPDEKPYS → VSHLVGAAAAPSPRG
     148-391: Missing.

Show »
Length:147
Mass (Da):15,097
Checksum:i4B46D2AF7EF8063D
GO
Isoform 5 (identifier: Q92838-6) [UniParc]FASTAAdd to basket
Also known as: D

The sequence of this isoform differs from the canonical sequence as follows:
     133-142: MALLNFFFPD → ACFPQVLLSL
     143-391: Missing.

Note: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.
Show »
Length:142
Mass (Da):14,798
Checksum:iC0ACDCC07BE70D7F
GO
Isoform 6 (identifier: Q92838-7) [UniParc]FASTAAdd to basket
Also known as: E

The sequence of this isoform differs from the canonical sequence as follows:
     133-147: MALLNFFFPDEKPYS → DFDYIISFSYGLQGFC
     148-391: Missing.

Show »
Length:148
Mass (Da):15,582
Checksum:iB4473D0DBEFFD289
GO
Isoform 7 (identifier: Q92838-8) [UniParc]FASTAAdd to basket
Also known as: F

The sequence of this isoform differs from the canonical sequence as follows:
     133-147: MALLNFFFPDEKPYS → LHVSFSLRKKKAGHQ
     148-391: Missing.

Show »
Length:147
Mass (Da):15,443
Checksum:iF49B7DEFB05D4336
GO
Isoform 8 (identifier: Q92838-9) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     265-267: Missing.
     307-308: Missing.

Show »
Length:386
Mass (Da):40,750
Checksum:iE498990FECC30F26
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 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A0C4DGX3A0A0C4DGX3_HUMAN
Ectodysplasin-A
EDA hCG_14664
259Annotation score:

Annotation score:2 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>
D6RA95D6RA95_HUMAN
Ectodysplasin-A
EDA
136Annotation 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>

<p>This subsection of the ‘Sequence’ section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

The sequence AAC77372 differs from that shown. Intron retention.Curated

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07531051L → Q in XHED; unknown pathological significance. 1 Publication1
Natural variantiVAR_01061154H → Y in XHED. 1 Publication1
Natural variantiVAR_01061255L → R in XHED. 1 Publication1
Natural variantiVAR_01348460C → R in XHED. 1 Publication1
Natural variantiVAR_00517961Y → H in XHED. 1 PublicationCorresponds to variant dbSNP:rs132630308EnsemblClinVar.1
Natural variantiVAR_00518063E → K in XHED. 1 PublicationCorresponds to variant dbSNP:rs132630311EnsemblClinVar.1
Natural variantiVAR_02953465R → G in STHAGX1. 1 PublicationCorresponds to variant dbSNP:rs132630319EnsemblClinVar.1
Natural variantiVAR_00518169R → L in XHED. 1 PublicationCorresponds to variant dbSNP:rs132630309EnsemblClinVar.1
Natural variantiVAR_036590118P → L in a colorectal cancer sample; somatic mutation. 1 Publication1
Natural variantiVAR_075311125S → C in XHED; unknown pathological significance. 1 Publication1
Natural variantiVAR_075312132Q → P in XHED; unknown pathological significance. 1 Publication1
Natural variantiVAR_054454153R → C in XHED; abolishes proteolytic processing. 4 PublicationsCorresponds to variant dbSNP:rs397516662EnsemblClinVar.1
Natural variantiVAR_075313153R → H in XHED; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs140642493Ensembl.1
Natural variantiVAR_005182155R → C in XHED; abolishes proteolytic processing. 8 PublicationsCorresponds to variant dbSNP:rs132630312EnsemblClinVar.1
Natural variantiVAR_005183156R → C in XHED; abolishes proteolytic processing. 6 PublicationsCorresponds to variant dbSNP:rs132630313EnsemblClinVar.1
Natural variantiVAR_064858156R → G in XHED. 1 Publication1
Natural variantiVAR_005184156R → H in XHED; abolishes proteolytic processing. 7 PublicationsCorresponds to variant dbSNP:rs132630314EnsemblClinVar.1
Natural variantiVAR_054455156R → S in XHED. 1 Publication1
Natural variantiVAR_054456158K → N in XHED; abolishes proteolytic processing. 2 PublicationsCorresponds to variant dbSNP:rs727504649EnsemblClinVar.1
Natural variantiVAR_054457183 – 194Missing in XHED. 3 PublicationsAdd BLAST12
Natural variantiVAR_054458184 – 189Missing in XHED. 1 Publication6
Natural variantiVAR_054459185 – 196Missing in XHED. 3 PublicationsAdd BLAST12
Natural variantiVAR_054460189G → E in XHED. 1 Publication1
Natural variantiVAR_054461191 – 196Missing in XHED. 2 Publications6
Natural variantiVAR_064859192 – 197Missing in XHED. 1 Publication6
Natural variantiVAR_075314193 – 201Missing in XHED; unknown pathological significance. 1 Publication9
Natural variantiVAR_054462198G → A in XHED. 1 Publication1
Natural variantiVAR_054463207G → R in XHED. 1 Publication1
Natural variantiVAR_064860207G → V in XHED. 1 Publication1
Natural variantiVAR_005185209P → L in XHED. 1 PublicationCorresponds to variant dbSNP:rs132630315EnsemblClinVar.1
Natural variantiVAR_064861211T → R in XHED. 1 Publication1
Natural variantiVAR_054465218 – 223Missing in XHED. 1 Publication6
Natural variantiVAR_054464218G → D in XHED. 1 Publication1
Natural variantiVAR_075315219 – 230Missing in XHED; unknown pathological significance. 1 PublicationAdd BLAST12
Natural variantiVAR_077561221G → D in XHED; unknown pathological significance. 1 Publication1
Natural variantiVAR_005186224G → A in XHED. 1 PublicationCorresponds to variant dbSNP:rs132630316EnsemblClinVar.1
Natural variantiVAR_005187252H → L in XHED; loss of interaction with EDAR for isoform 1; decreased interaction with EDA2R for isoform 3; changed downstream signaling. 1 PublicationCorresponds to variant dbSNP:rs879255552EnsemblClinVar.1
Natural variantiVAR_013485252H → Y in XHED. 1 Publication1
Natural variantiVAR_011077255G → C in XHED. 1 Publication1
Natural variantiVAR_011078255G → D in XHED; mild. 1 PublicationCorresponds to variant dbSNP:rs1064793105EnsemblClinVar.1
Natural variantiVAR_071454259A → E in STHAGX1; decreased interaction with EDAR for isoform 1; decreased interaction with EDA2R for isoform 3; changed downstream signaling. 1 PublicationCorresponds to variant dbSNP:rs879255611EnsemblClinVar.1
Natural variantiVAR_071455260I → S in STHAGX1. 1 Publication1
Natural variantiVAR_064862266L → R in XHED. 1 Publication1
Natural variantiVAR_013486269G → V in XHED. 1 Publication1
Natural variantiVAR_011079274W → G in XHED. 2 Publications1
Natural variantiVAR_064863274W → R in XHED. 1 Publication1
Natural variantiVAR_071456289R → C in STHAGX1; decreased interaction with EDAR for isoform 1; decreased interaction with EDA2R for isoform 3; changed downstream signaling. 1 PublicationCorresponds to variant dbSNP:rs879255551EnsemblClinVar.1
Natural variantiVAR_071457289R → L in STHAGX1. 1 Publication1
Natural variantiVAR_010613291G → R in XHED. 4 PublicationsCorresponds to variant dbSNP:rs397516677EnsemblClinVar.1
Natural variantiVAR_010614291G → W in XHED. 1 Publication1
Natural variantiVAR_064864293L → P in XHED. 1 Publication1
Natural variantiVAR_064865296L → V in XHED. 1 Publication1
Natural variantiVAR_010615298D → H in XHED. 1 Publication1
Natural variantiVAR_054466298D → Y in XHED. 1 Publication1
Natural variantiVAR_064866299G → D in XHED. 1 Publication1
Natural variantiVAR_005188299G → S in XHED. 5 PublicationsCorresponds to variant dbSNP:rs397516679EnsemblClinVar.1
Natural variantiVAR_013487302F → S in XHED. 1 Publication1
Natural variantiVAR_075316304Y → H in XHED; unknown pathological significance. 1 Publication1
Natural variantiVAR_054467306Q → H in XHED. 1 Publication1
Natural variantiVAR_054468307V → G in XHED. 1 Publication1
Natural variantiVAR_075317316D → E in XHED; unknown pathological significance. 1 Publication1
Natural variantiVAR_067319319S → R in XHED. 2 Publications1
Natural variantiVAR_054469320Y → C in XHED. 1 Publication1
Natural variantiVAR_064867323V → G in XHED. 1 Publication1
Natural variantiVAR_075318332C → F in XHED; unknown pathological significance. 1 Publication1
Natural variantiVAR_011080332C → Y in XHED. 1 Publication1
Natural variantiVAR_071458334R → H in STHAGX1; decreased interaction with EDAR for isoform 1; decreased interaction with EDA2R for isoform 3; changed downstream signaling. 1 PublicationCorresponds to variant dbSNP:rs142948132EnsemblClinVar.1
Natural variantiVAR_064868338T → M in STHAGX1 and XHED. 2 PublicationsCorresponds to variant dbSNP:rs132630321EnsemblClinVar.1
Natural variantiVAR_054470343Y → C in XHED; loss of interaction with EDAR for isoform 1; decreased interaction with EDA2R for isoform 3; changed downstream signaling. 1 Publication1
Natural variantiVAR_064869346C → Y in XHED. 1 Publication1
Natural variantiVAR_005189349A → T in XHED. 4 PublicationsCorresponds to variant dbSNP:rs132630317EnsemblClinVar.1
Natural variantiVAR_075319350G → D in XHED; unknown pathological significance. 1 Publication1
Natural variantiVAR_067250354L → P in XHED. 1 Publication1
Natural variantiVAR_005190356A → D in XHED. 1 Publication1
Natural variantiVAR_064870356A → V in XHED. 1 PublicationCorresponds to variant dbSNP:rs876657639EnsemblClinVar.1
Natural variantiVAR_005191357R → P in XHED. 1 PublicationCorresponds to variant dbSNP:rs61747506EnsemblClinVar.1
Natural variantiVAR_054471358Q → E in XHED. 1 PublicationCorresponds to variant dbSNP:rs132630320EnsemblClinVar.1
Natural variantiVAR_075320358Q → H in XHED; unknown pathological significance. 1 Publication