Tbio EDA Ectodysplasin-A

Protein Summary

Description

Cytokine which is involved in epithelial-mesenchymal signaling during morphogenesis of ectodermal organs. Functions as a ligand activating the DEATH-domain containing receptors EDAR and EDA2R (PubMed:8696334, PubMed:11039935, PubMed:27144394). May also play a role in cell adhesion (By similarity). Isoform 1: Binds only to the receptor EDAR, while isoform 3 binds exclusively to the receptor EDA2R. Isoform 3: Binds only to the receptor EDA2R. 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. [provided by RefSeq, Jul 2008]

Uniprot Accession IDs

• Q92838
• A0AUZ2
• A2A337
• B7ZLU2
• B7ZLU4
• O75910
• Q5JS00
• Q5JUM7
• Q9UP77
• Q9Y6L0
• Q9Y6L1
• Q9Y6L2
• Q9Y6L3
• Q9Y6L4

Gene Name

• EDA

Ensembl ID

• ENST00000338901
• ENSP00000340611
• ENSG00000158813
• ENST00000374552
• ENSP00000363680
• ENST00000374553
• ENSP00000363681
• ENST00000524573
• ENSP00000432585
• ENST00000525810
• ENSP00000434195
• ENST00000527388
• ENSP00000434861

Symbol

• ED1
• EDA2
• ED1
• HED
• EDA1
• EDA2
• HED1
• ODT1
• XHED
• ECTD1
• XLHED
• ED1-A1
• ED1-A2
• EDA-A1
• EDA-A2
• TNLG7C
• STHAGX1

Knowledge Table

Most Knowledge About	Knowledge Value (0 to 1 scale)
disease perturbation	0.83
biological process	0.75
cellular component	0.73
phenotype	0.66
biological term	0.63

Protein Classes

No PANTHER Classes or DTO Classes found

IDG Development Level Summary

Tdark

These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 350.34   (req: < 5)

Gene RIFs: 97   (req: <= 3)

Antibodies: 489   (req: <= 50)

Tbio

These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 350.34   (req: >= 5)

Gene RIFs: 97   (req: > 3)

Antibodies: 489   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 21

Tchem

Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions

Active Ligand: 0

Tclin

Target has at least one approved drug - AND - satisfies the preceding conditions

Active Drug: 0