Ectodysplasin A2 receptor

EDA2R
Identifiers
Aliases	EDA2R, EDA-A2R, EDAA2R, TNFRSF27, XEDAR, ectodysplasin A2 receptor
External IDs	OMIM: 300276; MGI: 2442860; HomoloGene: 11033; GeneCards: EDA2R; OMA:EDA2R - orthologs
Gene location (Human)
Chr.	X chromosome (human)
End	66,639,298 bp
Gene location (Mouse)
Chr.	X chromosome (mouse)
End	96,420,822 bp
RNA expression pattern
	Top expressed in
	stromal cell of endometrium; ; right adrenal cortex; ; right uterine tube; ; Descending thoracic aorta; ; ascending aorta; ; testicle; ; smooth muscle tissue; ; left adrenal gland; ; canal of the cervix; ; left adrenal cortex;
	Top expressed in
	temporal muscle; ; ankle; ; gastrocnemius muscle; ; endothelial cell of lymphatic vessel; ; triceps brachii muscle; ; muscle of thigh; ; quadriceps femoris muscle; ; soleus muscle; ; medial head of gastrocnemius muscle; ; tibialis anterior muscle;
	More reference expression data
	More reference expression data
Gene ontology
Molecular function	protein binding; tumor necrosis factor-activated receptor activity; signaling receptor activity;
Cellular component	integral component of membrane; integral component of plasma membrane; intracellular anatomical structure; membrane; plasma membrane;
Biological process	multicellular organism development; cell differentiation; tumor necrosis factor-mediated signaling pathway; positive regulation of JNK cascade; positive regulation of NF-kappaB transcription factor activity; ectodermal cell differentiation; intrinsic apoptotic signaling pathway by p53 class mediator; epidermis development; tissue development; positive regulation of I-kappaB kinase/NF-kappaB signaling;
	Sources:Amigo / QuickGO
Orthologs
	60401
	245527
	ENSG00000131080
	ENSMUSG00000034457
	Q9HAV5
	Q8BX35
NM_001199687; NM_001199688; NM_001199689; NM_001242310; NM_021783;
	NM_001324199; NM_001324201; NM_001324202; NM_001324204; NM_001324205; NM_001324206
	NM_001161432; NM_001161433; NM_175540
NP_001186616; NP_001229239; NP_001311128; NP_001311130; NP_001311131;
	NP_001311133; NP_001311134; NP_001311135; NP_068555
	NP_001154904; NP_001154905; NP_780749
	Wikidata
View/Edit Human	View/Edit Mouse

Tumor necrosis factor receptor superfamily member 27 is a protein that in humans is encoded by the EDA2R gene.

EDA-A1 and EDA-A2 are two isoforms of ectodysplasin that are encoded by the anhidrotic ectodermal dysplasia (EDA) gene. Mutations in EDA give rise to a clinical syndrome characterized by loss of hair, sweat glands, and teeth. The protein encoded by this gene specifically binds to EDA-A2 isoform. This protein is a type III transmembrane protein of the TNFR (tumor necrosis factor receptor) superfamily, and contains 3 cysteine-rich repeats and a single transmembrane domain but lacks an N-terminal signal peptide. Multiple alternatively spliced transcript variants have been found for this gene, but some variants lack sufficient support.