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UniProtKB - Q9UNE0 (EDAR_HUMAN)

Entry version 158 (08 May 2019)
Sequence version 1 (01 May 2000)
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Protein

Tumor necrosis factor receptor superfamily member EDAR

Gene

EDAR

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

Receptor for EDA isoform A1, but not for EDA isoform A2. Mediates the activation of NF-kappa-B and JNK. May promote caspase-independent cell death.

<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

View the complete GO annotation on QuickGO ...

GO - Biological processi

View the complete GO annotation on QuickGO ...

<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, Receptor
Biological processApoptosis, Differentiation

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...Reactomei		R-HSA-5669034 TNFs bind their physiological receptors

SIGNOR Signaling Network Open Resource

More...SIGNORi		Q9UNE0

<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:
Tumor necrosis factor receptor superfamily member EDAR
Alternative name(s):
Anhidrotic ectodysplasin receptor 1
Downless homolog
EDA-A1 receptor
Ectodermal dysplasia receptor
Ectodysplasin-A receptor
<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:EDAR
Synonyms:DL
<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 lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<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 2

Organism-specific databases

Human Gene Nomenclature Database

More...HGNCi		HGNC:2895 EDAR

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		604095 gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q9UNE0

<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 domaini27 – 187ExtracellularSequence analysisAdd BLAST161
<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>Transmembranei188 – 208HelicalSequence analysisAdd BLAST21
Topological domaini209 – 448CytoplasmicSequence analysisAdd BLAST240

Keywords - Cellular componenti

Membrane

<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 10A, hypohidrotic/hair/nail type, autosomal dominant (ECTD10A)2 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. It is an autosomal dominant condition characterized by hypotrichosis, abnormal or missing teeth, and hypohidrosis due to the absence of sweat glands.
See also OMIM:129490
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_013450420R → Q in ECTD10A and ECTD10B; abolishes NF-kappa-B activation and reduces JNK activation. 6 PublicationsCorresponds to variant dbSNP:rs121908453EnsemblClinVar.1
Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive (ECTD10B)8 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA disorder due to abnormal development of two or more ectodermal structures, and characterized by sparse hair (atrichosis or hypotrichosis), abnormal or missing teeth and the inability to sweat due to the absence of sweat glands.
See also OMIM:224900
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_05444447C → Y in ECTD10B. 1 PublicationCorresponds to variant dbSNP:rs778903951Ensembl.1
Natural variantiVAR_01344887C → R in ECTD10B. 1 PublicationCorresponds to variant dbSNP:rs121908451EnsemblClinVar.1
Natural variantiVAR_01344989R → H in ECTD10B. 4 PublicationsCorresponds to variant dbSNP:rs121908450EnsemblClinVar.1
Natural variantiVAR_06483098R → Q in ECTD10B. 1 PublicationCorresponds to variant dbSNP:rs144473052Ensembl.1
Natural variantiVAR_054445110D → A in ECTD10B. 2 PublicationsCorresponds to variant dbSNP:rs121908455EnsemblClinVar.1
Natural variantiVAR_054446148C → R in ECTD10B. 1 Publication1
Natural variantiVAR_064831358R → Q in ECTD10B. 2 PublicationsCorresponds to variant dbSNP:rs886039564EnsemblClinVar.1
Natural variantiVAR_054447375R → H in ECTD10B; the mutant protein does not interact with EDARADD and is functionally inactive. 1 PublicationCorresponds to variant dbSNP:rs121908454EnsemblClinVar.1
Natural variantiVAR_054448377L → F in ECTD10B. 1 Publication1
Natural variantiVAR_054449382G → S in ECTD10B. 1 PublicationCorresponds to variant dbSNP:rs747806672EnsemblClinVar.1
Natural variantiVAR_064832396Q → QQ in ECTD10B. 1 Publication1
Natural variantiVAR_054450403T → M in ECTD10B. 2 Publications1
Natural variantiVAR_064833408I → F in ECTD10B. 1 Publication1
Natural variantiVAR_054451413T → P in ECTD10B. 1 Publication1
Natural variantiVAR_054452418I → T in ECTD10B. 1 Publication1
Natural variantiVAR_013450420R → Q in ECTD10A and ECTD10B; abolishes NF-kappa-B activation and reduces JNK activation. 6 PublicationsCorresponds to variant dbSNP:rs121908453EnsemblClinVar.1
Natural variantiVAR_054453434W → C in ECTD10B. 1 PublicationCorresponds to variant dbSNP:rs528478080Ensembl.1
Natural variantiVAR_064834434W → R in ECTD10B. 1 PublicationCorresponds to variant dbSNP:rs773885029Ensembl.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>Mutagenesisi379E → K: Reduces activation of NF-kappa-B. 1 Publication1

Keywords - Diseasei

Disease mutation, Ectodermal dysplasia

Organism-specific databases

DisGeNET

More...DisGeNETi		10913

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

More...GeneReviewsi		EDAR

MalaCards human disease database

More...MalaCardsi		EDAR
MIMi129490 phenotype
224900 phenotype
612630 phenotype

Open Targets

More...OpenTargetsi		ENSG00000135960

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

More...Orphaneti		1810 Autosomal dominant hypohidrotic ectodermal dysplasia
248 Autosomal recessive hypohidrotic ectodermal dysplasia

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA27602

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

More...ChEMBLi		CHEMBL1250376

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		EDAR

Domain mapping of disease mutations (DMDM)

More...DMDMi		21263572

<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 – 261 PublicationAdd BLAST26
<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_000003460827 – 448Tumor necrosis factor receptor superfamily member EDARAdd BLAST422

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<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 bondi31 ↔ 44By similarity
<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>Glycosylationi38N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi47 ↔ 60By similarity
Disulfide bondi50 ↔ 71By similarity
Disulfide bondi74 ↔ 87By similarity
Disulfide bondi93 ↔ 113By similarity
Disulfide bondi135 ↔ 148By similarity

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		Q9UNE0

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

More...PaxDbi		Q9UNE0

PeptideAtlas

More...PeptideAtlasi		Q9UNE0

PRoteomics IDEntifications database

More...PRIDEi		Q9UNE0

ProteomicsDB human proteome resource

More...ProteomicsDBi		85279

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q9UNE0

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

More...PhosphoSitePlusi		Q9UNE0

<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 fetal kidney, lung, skin and cultured neonatal epidermal keratinocytes. Not detected in lymphoblast and fibroblast cell lines.

<p>This subsection of the ‘Expression’ section provides information on the expression of the gene product at various stages of a cell, tissue or organism development. By default, the information is derived from experiments at the mRNA level, unless specified ‘at the protein level’.<p><a href='/help/developmental_stage' target='_top'>More...</a></p>Developmental stagei

Found in craniofacial tissues from embryonic day 42-53. Expressed in fetal skin 11 and 15 weeks after gestation.

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000135960 Expressed in 94 organ(s), highest expression level in secondary oocyte

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q9UNE0 HS

Organism-specific databases

Human Protein Atlas

More...HPAi		HPA042292

<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

Binds to EDARADD. Associates with TRAF1, TRAF2, TRAF3 and NIK.

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...BioGridi		116118, 8 interactors

Protein interaction database and analysis system

More...IntActi		Q9UNE0, 8 interactors

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000258443

<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

3D structure databases

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

More...SMRi		Q9UNE0

Database of comparative protein structure models

More...ModBasei		Search...

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		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 ‘Family and Domains’ section indicates the positions and types of repeated sequence motifs or repeated domains within the protein.<p><a href='/help/repeat' target='_top'>More...</a></p>Repeati30 – 71TNFR-Cys 1Add BLAST42
Repeati73 – 113TNFR-Cys 2Add BLAST41
Repeati115 – 148TNFR-Cys 3Add BLAST34
<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>Domaini358 – 431DeathAdd BLAST74

Keywords - Domaini

Repeat, Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		ENOG410IGTD Eukaryota
ENOG41104RU LUCA

Ensembl GeneTree

More...GeneTreei		ENSGT00940000153259

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		HOG000112327

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q9UNE0

KEGG Orthology (KO)

More...KOi		K05162

Identification of Orthologs from Complete Genome Data

More...OMAi		IMFYIMK

Database of Orthologous Groups

More...OrthoDBi		1465912at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q9UNE0

TreeFam database of animal gene trees

More...TreeFami		TF331385

Family and domain databases

Conserved Domains Database

More...CDDi		cd13421 TNFRSF_EDAR, 1 hit

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR011029 DEATH-like_dom_sf
IPR034052 EDAR_N

Superfamily database of structural and functional annotation

More...SUPFAMi		SSF47986 SSF47986, 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>.<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
Isoform 1 (identifier: Q9UNE0-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' 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
MAHVGDCTQT PWLPVLVVSL MCSARAEYSN CGENEYYNQT TGLCQECPPC 
        60         70         80         90        100
GPGEEPYLSC GYGTKDEDYG CVPCPAEKFS KGGYQICRRH KDCEGFFRAT 
       110        120        130        140        150
VLTPGDMEND AECGPCLPGY YMLENRPRNI YGMVCYSCLL APPNTKECVG 
       160        170        180        190        200
ATSGASANFP GTSGSSTLSP FQHAHKELSG QGHLATALII AMSTIFIMAI 
       210        220        230        240        250
AIVLIIMFYI LKTKPSAPAC CTSHPGKSVE AQVSKDEEKK EAPDNVVMFS 
       260        270        280        290        300
EKDEFEKLTA TPAKPTKSEN DASSENEQLL SRSVDSDEEP APDKQGSPEL 
       310        320        330        340        350
CLLSLVHLAR EKSATSNKSA GIQSRRKKIL DVYANVCGVV EGLSPTELPF 
       360        370        380        390        400
DCLEKTSRML SSTYNSEKAV VKTWRHLAES FGLKRDEIGG MTDGMQLFDR 
       410        420        430        440 
ISTAGYSIPE LLTKLVQIER LDAVESLCAD ILEWAGVVPP ASQPHAAS
Length:448
Mass (Da):48,582
Last modified:May 1, 2000 - v1
<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:iAC8D61249D608439
GO
Isoform 2 (identifier: Q9UNE0-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     219-219: A → GDGPHAPVPCFLDSPSTPPVGEPGCSLPPLSPA

Note: No experimental confirmation available.Curated
Show »
Length:480
Mass (Da):51,690
Checksum:i4262977A6EAE8D2A
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 conflicti156S → P in BAG36519 (PubMed:14702039).Curated1
Sequence conflicti262P → S in AAD50077 (PubMed:10431241).Curated1
Isoform 2 (identifier: Q9UNE0-2)
Sequence conflicti229F → L in BAG59487 (PubMed:14702039).Curated1

<p>This subsection of the ‘Sequence’ section provides information on polymorphic variants. If the variant is associated with a disease state, the description of the latter can be found in the <a href="http://www.uniprot.org/manual/involvement_in_disease">'Involvement in disease'</a> subsection.<p><a href='/help/polymorphism' target='_top'>More...</a></p>Polymorphismi

Genetic variation in EDAR is associated with variations in head hair thickness and defines the hair morphology locus 1 (HRM1) [MIMi:612630]. Besides skin color and facial features, hair morphology is one of the most distinctive traits among human populations, and classical classification of human population is based on such visible traits.

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_05444447C → Y in ECTD10B. 1 PublicationCorresponds to variant dbSNP:rs778903951Ensembl.1
Natural variantiVAR_01344887C → R in ECTD10B. 1 PublicationCorresponds to variant dbSNP:rs121908451EnsemblClinVar.1
Natural variantiVAR_01344989R → H in ECTD10B. 4 PublicationsCorresponds to variant dbSNP:rs121908450EnsemblClinVar.1
Natural variantiVAR_06483098R → Q in ECTD10B. 1 PublicationCorresponds to variant dbSNP:rs144473052Ensembl.1
Natural variantiVAR_054445110D → A in ECTD10B. 2 PublicationsCorresponds to variant dbSNP:rs121908455EnsemblClinVar.1
Natural variantiVAR_054446148C → R in ECTD10B. 1 Publication1
Natural variantiVAR_064831358R → Q in ECTD10B. 2 PublicationsCorresponds to variant dbSNP:rs886039564EnsemblClinVar.1
Natural variantiVAR_020011370V → A Associated with increase in hair thickness; results in decreased downstream activity of NFKB1 48 hours after transfection into cells. 3 PublicationsCorresponds to variant dbSNP:rs3827760EnsemblClinVar.1
Natural variantiVAR_077562370V → L1 PublicationCorresponds to variant dbSNP:rs1267372612Ensembl.1
Natural variantiVAR_054447375R → H in ECTD10B; the mutant protein does not interact with EDARADD and is functionally inactive. 1 PublicationCorresponds to variant dbSNP:rs121908454EnsemblClinVar.1
Natural variantiVAR_054448377L → F in ECTD10B. 1 Publication1
Natural variantiVAR_054449382G → S in ECTD10B. 1 PublicationCorresponds to variant dbSNP:rs747806672EnsemblClinVar.1
Natural variantiVAR_064832396Q → QQ in ECTD10B. 1 Publication1
Natural variantiVAR_054450403T → M in ECTD10B. 2 Publications1
Natural variantiVAR_064833408I → F in ECTD10B. 1 Publication1
Natural variantiVAR_054451413T → P in ECTD10B. 1 Publication1
Natural variantiVAR_054452418I → T in ECTD10B. 1 Publication1
Natural variantiVAR_013450420R → Q in ECTD10A and ECTD10B; abolishes NF-kappa-B activation and reduces JNK activation. 6 PublicationsCorresponds to variant dbSNP:rs121908453EnsemblClinVar.1
Natural variantiVAR_054453434W → C in ECTD10B. 1 PublicationCorresponds to variant dbSNP:rs528478080Ensembl.1
Natural variantiVAR_064834434W → R in ECTD10B. 1 PublicationCorresponds to variant dbSNP:rs773885029Ensembl.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_054187219A → GDGPHAPVPCFLDSPSTPPV GEPGCSLPPLSPA in isoform 2. 1 Publication1

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
AF130988 mRNA Translation: AAD50076.1
AF130996
, AF130990, AF130991, AF130992, AF130993, AF130994, AF130995 Genomic DNA Translation: AAD50077.1
AK296936 mRNA Translation: BAG59487.1
AK313781 mRNA Translation: BAG36519.1
AC073415 Genomic DNA No translation available.
AC092160 Genomic DNA No translation available.
AC133784 Genomic DNA No translation available.
CH471182 Genomic DNA Translation: EAW53869.1
BC093870 mRNA Translation: AAH93870.1
BC093872 mRNA Translation: AAH93872.1

The Consensus CDS (CCDS) project

More...CCDSi		CCDS2081.1 [Q9UNE0-1]

NCBI Reference Sequences

More...RefSeqi		NP_071731.1, NM_022336.3 [Q9UNE0-1]
XP_006712267.1, XM_006712204.1 [Q9UNE0-2]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000258443; ENSP00000258443; ENSG00000135960 [Q9UNE0-1]
ENST00000376651; ENSP00000365839; ENSG00000135960 [Q9UNE0-2]
ENST00000409271; ENSP00000386371; ENSG00000135960 [Q9UNE0-2]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		10913

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:10913

UCSC genome browser

More...UCSCi		uc002teq.4 human [Q9UNE0-1]

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
AF130988 mRNA Translation: AAD50076.1
AF130996
, AF130990, AF130991, AF130992, AF130993, AF130994, AF130995 Genomic DNA Translation: AAD50077.1
AK296936 mRNA Translation: BAG59487.1
AK313781 mRNA Translation: BAG36519.1
AC073415 Genomic DNA No translation available.
AC092160 Genomic DNA No translation available.
AC133784 Genomic DNA No translation available.
CH471182 Genomic DNA Translation: EAW53869.1
BC093870 mRNA Translation: AAH93870.1
BC093872 mRNA Translation: AAH93872.1
CCDSiCCDS2081.1 [Q9UNE0-1]
RefSeqiNP_071731.1, NM_022336.3 [Q9UNE0-1]
XP_006712267.1, XM_006712204.1 [Q9UNE0-2]

3D structure databases

SMRiQ9UNE0
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi116118, 8 interactors
IntActiQ9UNE0, 8 interactors
STRINGi9606.ENSP00000258443

Chemistry databases

ChEMBLiCHEMBL1250376

PTM databases

iPTMnetiQ9UNE0
PhosphoSitePlusiQ9UNE0

Polymorphism and mutation databases

BioMutaiEDAR
DMDMi21263572

Proteomic databases

jPOSTiQ9UNE0
PaxDbiQ9UNE0
PeptideAtlasiQ9UNE0
PRIDEiQ9UNE0
ProteomicsDBi85279

Protocols and materials databases

The DNASU plasmid repository

More...DNASUi		10913
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000258443; ENSP00000258443; ENSG00000135960 [Q9UNE0-1]
ENST00000376651; ENSP00000365839; ENSG00000135960 [Q9UNE0-2]
ENST00000409271; ENSP00000386371; ENSG00000135960 [Q9UNE0-2]
GeneIDi10913
KEGGihsa:10913
UCSCiuc002teq.4 human [Q9UNE0-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		10913
DisGeNETi10913

GeneCards: human genes, protein and diseases

More...GeneCardsi		EDAR
GeneReviewsiEDAR
HGNCiHGNC:2895 EDAR
HPAiHPA042292
MalaCardsiEDAR
MIMi129490 phenotype
224900 phenotype
604095 gene
612630 phenotype
neXtProtiNX_Q9UNE0
OpenTargetsiENSG00000135960
Orphaneti1810 Autosomal dominant hypohidrotic ectodermal dysplasia
248 Autosomal recessive hypohidrotic ectodermal dysplasia
PharmGKBiPA27602

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiENOG410IGTD Eukaryota
ENOG41104RU LUCA
GeneTreeiENSGT00940000153259
HOGENOMiHOG000112327
InParanoidiQ9UNE0
KOiK05162
OMAiIMFYIMK
OrthoDBi1465912at2759
PhylomeDBiQ9UNE0
TreeFamiTF331385

Enzyme and pathway databases

ReactomeiR-HSA-5669034 TNFs bind their physiological receptors
SIGNORiQ9UNE0

Miscellaneous databases

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		EDAR

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

More...GenomeRNAii		10913

Protein Ontology

More...PROi		PR:Q9UNE0

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000135960 Expressed in 94 organ(s), highest expression level in secondary oocyte
GenevisibleiQ9UNE0 HS

Family and domain databases

CDDicd13421 TNFRSF_EDAR, 1 hit
InterProiView protein in InterPro
IPR011029 DEATH-like_dom_sf
IPR034052 EDAR_N
SUPFAMiSSF47986 SSF47986, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...ProtoNeti		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 nameiEDAR_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: Q9UNE0
Secondary accession number(s): B2R9H2
, B4DLC5, D3DX74, E9PC98, Q52LL5, Q9UND9
<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: May 27, 2002
Last sequence update: May 1, 2000
Last modified: May 8, 2019
This is version 158 of the entry and version 1 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

Complete proteome, Direct protein sequencing, Reference proteome

Documents

  1. Human chromosome 2
    Human chromosome 2: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  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
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