EDAR

Name

ectodysplasin A receptor

Type

protein-coding

Position

108,894,471–108,989,372 (−)

Aliases

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

Ensembl

ENSG00000135960

RefSeq RNA

NM_022336.4, XM_006712204.2, XM_054340250.1

RefSeq protein

NP_071731.1, XP_006712267.1, XP_054196225.1

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].

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Gene · Ensembl

ectodysplasin A receptor

Symbol

EDAR

Biotype

Protein coding

Organism

Homo sapiens

Location

2:108,894,471-108,989,372

Strand

Reverse (−)

Assembly

GRCh38

Wikidata facts

Instance of

gene

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