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
plasma membrane
integral to plasma 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
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.