Homo sapiens Gene: EDAR
Summary
InnateDB Gene IDBG-65178.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol EDAR
Gene Name ectodysplasin A receptor
Synonyms DL; ECTD10A; ECTD10B; ED1R; ED3; ED5; EDA-A1R; EDA1R; EDA3; HRM1;
Species Homo sapiens
Ensembl Gene ENSG00000135960
Encoded Proteins
ectodysplasin A receptor
ectodysplasin A receptor
ectodysplasin A receptor
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary This gene encodes a member of the tumor necrosis factor receptor family. The encoded transmembrane protein is a receptor for the soluble ligand ectodysplasin A, and can activate the nuclear factor-kappaB, JNK, and caspase-independent cell death pathways. It is required for the development of hair, teeth, and other ectodermal derivatives. Mutations in this gene result in autosomal dominant and recessive forms of hypohidrotic ectodermal dysplasia. [provided by RefSeq, Jul 2008]
Gene Information
Type Protein coding
Genomic Location Chromosome 2:108894471-108989372
Strand Reverse strand
Band q13
Transcripts
ENST00000376651 ENSP00000365839
ENST00000258443 ENSP00000258443
ENST00000409271 ENSP00000386371
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
Cellular Component
GO:0005886 plasma membrane
GO:0016021 integral component of membrane
GO:0045177 apical part of cell
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
Non-SSD Ortholog
Possible paralog/unusual divergence/ gene prediction error
Not yet available
Non-SSD Ortholog
Possible paralog/unusual divergence/ gene prediction error
Pathways
NETPATH
REACTOME
KEGG
Cytokine-cytokine receptor interaction pathway
INOH
PID BIOCARTA
PID NCI
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.171971
RefSeq NM_022336 XM_006712204
HUGO
OMIM
CCDS CCDS2081
HPRD 04974
IMGT
EMBL
GenPept
RNA Seq Atlas