InnateDB Protein
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IDBP-65182.6
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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EDAR
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Protein Name
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ectodysplasin A receptor
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Synonyms
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DL; ECTD10A; ECTD10B; ED1R; ED3; ED5; EDA-A1R; EDA1R; EDA3; HRM1;
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000258443
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InnateDB Gene
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IDBG-65178 (EDAR)
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Protein Structure
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Function |
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.
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Subcellular Localization |
Membrane {ECO:0000305}; Single-pass type I membrane protein {ECO:0000305}.
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Disease Associations |
Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant (ECTD10A) [MIM:129490]: A 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. {ECO:0000269PubMed:10431241, ECO:0000269PubMed:18231121}. Note=The disease is caused by mutations affecting the gene represented in this entry.Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive (ECTD10B) [MIM:224900]: A 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. {ECO:0000269PubMed:10431241, ECO:0000269PubMed:15373768, ECO:0000269PubMed:16029325, ECO:0000269PubMed:16435307, ECO:0000269PubMed:18231121, ECO:0000269PubMed:19438931, ECO:0000269PubMed:20979233}. Note=The disease is caused by mutations affecting the gene represented in this entry.
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Tissue Specificity |
Detected in fetal kidney, lung, skin and cultured neonatal epidermal keratinocytes. Not detected in lymphoblast and fibroblast cell lines.
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Comments |
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Number of Interactions
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This gene and/or its encoded proteins are associated with 10 experimentally validated interaction(s) in this database.
Experimentally validated |
Total |
10
[view]
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Protein-Protein |
10
[view]
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Protein-DNA |
0
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Protein-RNA |
0
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DNA-DNA |
0
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RNA-RNA |
0
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DNA-RNA |
0
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Molecular Function |
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Biological Process |
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Cellular Component |
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PDB ID |
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InterPro |
IPR000488
Death domain
IPR011029
Death-like domain
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PFAM |
PF00531
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PRINTS |
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PIRSF |
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SMART |
SM00005
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TIGRFAMs |
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Modification |
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SwissProt |
Q9UNE0
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PhosphoSite |
PhosphoSite-Q9UNE0
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TrEMBL |
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UniProt Splice Variant |
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Entrez Gene |
10913
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UniGene |
Hs.171971
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RefSeq |
NP_071731
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HUGO |
HGNC:2895
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OMIM |
604095
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CCDS |
CCDS2081
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HPRD |
04974
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IMGT |
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EMBL |
AC073415
AC092160
AC133784
AF130988
AF130990
AF130991
AF130992
AF130993
AF130994
AF130995
AF130996
AK296936
AK313781
BC093870
BC093872
CH471182
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GenPept |
AAD50076
AAD50077
AAH93870
AAH93872
BAG36519
BAG59487
EAW53869
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