Ectodysplasin A2 receptor

Tumor necrosis factor receptor superfamily member 27 is a protein that in humans is encoded by the EDA2R gene.[5][6]

EDA2R
Identifiers
Aliases	EDA2R, EDA-A2R, EDAA2R, TNFRSF27, XEDAR, ectodysplasin A2 receptor
External IDs	OMIM: 300276 MGI: 2442860 HomoloGene: 11033 GeneCards: EDA2R
Gene location (Human) Chr. X chromosome (human)[1] Band Xq12 Start 66,595,637 bp[1] End 66,639,298 bp[1]
Gene location (Mouse) Chr. X chromosome (mouse)[2] Band X|X C3 Start 97,333,840 bp[2] End 97,377,216 bp[2]
RNA expression pattern More reference expression data
Gene ontology Molecular function • GO:0001948 protein binding • tumor necrosis factor-activated receptor activity • signaling receptor activity Cellular component • integral component of membrane • integral component of plasma membrane • intracellular • membrane • cell 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 • histogenesis • positive regulation of I-kappaB kinase/NF-kappaB signaling Sources:Amigo / QuickGO
Orthologs
Species	Human	Mouse
Entrez	60401	245527
Ensembl	ENSG00000131080	ENSMUSG00000034457
UniProt	Q9HAV5	Q8BX35
RefSeq (mRNA)	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
RefSeq (protein)	NP_001186616 NP_001229239 NP_001311128 NP_001311130 NP_001311131 NP_001311133 NP_001311134 NP_001311135 NP_068555	NP_001154904 NP_001154905 NP_780749
Location (UCSC)	Chr X: 66.6 – 66.64 Mb	Chr X: 97.33 – 97.38 Mb
PubMed search	[3]	[4]
Wikidata
View/Edit Human View/Edit Mouse

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.[6]