full name
ectodysplasin A receptor

synonyms
DL, ECTD10A, ECTD10B, ED1R, ED3, ED5, EDA-A1R, EDA1R, EDA3, HRM1, EDAR, ENSG00000135960

HGNC
HGNC:2895

Entrez Gene
Gene:10913

ENSEMBL
ENSG00000135960

location
chr: 2
start: 109510927
stop: 109605828
strand: -

OMIM
OMIM:604095: EDAR (Autosomal dominant inheritance,Heterogeneous)
OMIM:129490: Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant
OMIM:224900: Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive
OMIM:612630: [Hair morphology 1, hair thickness]

transcripts
NM_022336.3

pathways
Cytokine Signaling in Immune system [NCBI:1269310] [REACTOME:R-HSA-1280215] [PUBMED:12613569]
Cytokine-cytokine receptor interaction [NCBI:83051] [KEGG:hsa04060] [PUBMED:11071910] [PUBMED:12072446] [PUBMED:7791754] [PUBMED:15032600] [PUBMED:12651226] [PUBMED:11252892] [PUBMED:11796220] [PUBMED:11312110] [PUBMED:9862719] [PUBMED:12421671] [PUBMED:12039028] [PUBMED:9759503] [PUBMED:9395284] [PUBMED:11166270] [PUBMED:10714678] [PUBMED:12651221]
Immune System [NCBI:1269170] [REACTOME:R-HSA-168256]
TNFR2 non-canonical NF-kB pathway [NCBI:1269329] [REACTOME:R-HSA-5668541] [PUBMED:19680262] [PUBMED:24298274] [PUBMED:21173796] [PUBMED:20489699] [PUBMED:24432023] [PUBMED:21232019] [PUBMED:22017430]
TNFs bind their physiological receptors [NCBI:1269332] [REACTOME:R-HSA-5669034] [PUBMED:16443545]