Ectodysplasin A

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

EDA
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 1RJ7, 1RJ8
Identifiers
Aliases	EDA, ECTD1, ED1, ED1-A1, ED1-A2, EDA-A1, EDA-A2, EDA1, EDA2, HED, HED1, ODT1, STHAGX1, XHED, XLHED, TNLG7C, ectodysplasin A
External IDs	OMIM: 300451; MGI: 1195272; GeneCards: EDA; OMA:EDA - orthologs
Gene location (Human) Chr. X chromosome (human)[1] Band Xq13.1 Start 69,616,067 bp[1] End 70,039,472 bp[1]
Gene location (Mouse) Chr. X chromosome (mouse)[2] Band X C3|X 43.59 cM Start 99,019,212 bp[2] End 99,444,368 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in testicle oocyte right auricle of heart left adrenal gland left adrenal cortex secondary oocyte right adrenal cortex gonad apex of heart buccal mucosa cell Top expressed in dental lamina saccule ectoderm otic vesicle otic placode outer enamel epithelium entorhinal cortex perirhinal cortex choroid plexus of fourth ventricle secondary oocyte More reference expression data BioGPS More reference expression data
Gene ontology Molecular function protein binding tumor necrosis factor receptor binding signaling receptor binding death receptor agonist activity death receptor binding Cellular component integral component of membrane collagen endoplasmic reticulum membrane membrane plasma membrane apical part of cell integral component of plasma membrane extracellular region cytoskeleton lipid droplet intracellular membrane-bounded organelle Biological process trachea gland development hair follicle placode formation hair follicle development cell differentiation gene expression positive regulation of canonical Wnt signaling pathway salivary gland cavitation tumor necrosis factor-mediated signaling pathway multicellular organism development positive regulation of gene expression positive regulation of NF-kappaB transcription factor activity immune response positive regulation of I-kappaB kinase/NF-kappaB signaling pigmentation cell-matrix adhesion skin development cytokine-mediated signaling pathway regulation of NIK/NF-kappaB signaling odontogenesis of dentin-containing tooth regulation of signaling receptor activity positive regulation of NIK/NF-kappaB signaling Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 1896 13607 Ensembl ENSG00000158813 ENSMUSG00000059327 UniProt Q92838 O54693 RefSeq (mRNA) NM_001005609 NM_001005610 NM_001005611 NM_001005612 NM_001005613 NM_001005614 NM_001399 NM_001177937 NM_001177938 NM_001177939 NM_001177940 NM_001177941 NM_001177942 NM_001177943 NM_001177944 NM_010099 RefSeq (protein) NP_001005609 NP_001005610 NP_001005612 NP_001005613 NP_001390 NP_001171408 NP_001171409 NP_001171410 NP_001171411 NP_001171412 NP_001171413 NP_001171414 NP_001171415 NP_034229 Location (UCSC) Chr X: 69.62 – 70.04 Mb Chr X: 99.02 – 99.44 Mb PubMed search [3] [4]
Wikidata
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Ectodysplasin A is a transmembrane protein of the TNF family which plays an important role in the development of ectodermal tissues such as skin in humans.^[5][6] It is recognized by the ectodysplasin A receptor.

Function

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. Along with c-Met, it has been shown to be involved in the differentiation of anatomical placodes, precursors of scales, feathers and hair follicles in vertebrates.^[7] 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.^[6] At least 61 disease-causing mutations in this gene have been discovered.^[8]