EDA (gene)

Identifiers Symbols EDA; ECTD1; ED1; ED1-A1; ED1-A2; EDA1; EDA2; HED; HED1; ODT1; STHAGX1; XHED; XLHED External IDs OMIM: 300451 MGI: 1195272 HomoloGene: 68180 GeneCards: EDA Gene

Gene Ontology
Molecular function	• receptor binding • tumor necrosis factor receptor binding • protein binding
Cellular component	• collagen • endoplasmic reticulum membrane • cytoskeleton • plasma membrane • integral to plasma membrane • membrane • integral to membrane • apical part of cell
Biological process	• immune response • cell-matrix adhesion • signal transduction • ectoderm development • gene expression • cell differentiation • positive regulation of NF-kappaB import into nucleus • odontogenesis of dentin-containing tooth • positive regulation of I-kappaB kinase/NF-kappaB cascade • pigmentation • skin development • positive regulation of NF-kappaB transcription factor activity • salivary gland cavitation • hair follicle placode formation • trachea gland development • positive regulation of canonical Wnt receptor signaling pathway
Sources: Amigo / QuickGO

RNA expression pattern More reference expression data Orthologs Species Human Mouse Entrez 1896 13607 Ensembl ENSG00000158813 ENSMUSG00000059327 UniProt Q92838 O54693 RefSeq (mRNA) NM_001005609 NM_001177937 RefSeq (protein) NP_001005609 NP_001171408 Location (UCSC) Chr X:
68.84 – 69.26 Mb Chr X:
99.98 – 100.4 Mb PubMed search

Ectodysplasin-A is a protein that in humans is encoded by the EDA gene.

The protein encoded by this gene is a type II membrane protein that can be cleaved by furin to produce a secreted form. The encoded protein, which belongs to the tumor necrosis factor family, acts as a homotrimer and may be involved in cell-cell signaling during the development of ectodermal organs. Defects in this gene are a cause of ectodermal dysplasia, anhidrotic, which is also known as X-linked hypohidrotic ectodermal dysplasia. Several transcript variants encoding many different isoforms have been found for this gene.