InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: EDAR

Summary

InnateDB Protein

IDBP-65182.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

EDAR

Protein Name

ectodysplasin A receptor

Synonyms

DL; ECTD10A; ECTD10B; ED1R; ED3; ED5; EDA-A1R; EDA1R; EDA3; HRM1;

Species

Homo sapiens

Ensembl Protein

ENSP00000258443

InnateDB Gene

IDBG-65178 (EDAR)

Protein Structure

UniProt Annotation

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.

Subcellular Localization

Membrane {ECO:0000305}; Single-pass type I membrane protein {ECO:0000305}.

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.

Tissue Specificity

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

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 10 experimentally validated interaction(s) in this database.

Experimentally validated
Total	10 [view]
Protein-Protein	10 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0004872	receptor activity
GO:0004888	transmembrane signaling receptor activity
GO:0005515	protein binding

Biological Process

GO:0001942	hair follicle development
GO:0006915	apoptotic process
GO:0007165	signal transduction
GO:0008544	epidermis development
GO:0030154	cell differentiation
GO:0042346	positive regulation of NF-kappaB import into nucleus
GO:0042475	odontogenesis of dentin-containing tooth
GO:0043473	pigmentation
GO:0060662	salivary gland cavitation