EDA Gene Summary [Human]
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]
Details
| Type | Protein Coding |
| Official Symbol | EDA |
| Official Name | ectodysplasin A [Source:HGNC Symbol;Acc:HGNC:3157] |
| Ensembl ID | ENSG00000158813 |
| Bio databases IDs | |
| Aliases | ectodysplasin A |
| Synonyms | ECTD1, Ectodysplasin, ectodysplasin-A, ED1, ED1-A1, ED1-A2, EDA1, EDA2, HED, HED1, ODT1, RGD1563178, STHAGX1, Ta, tabby, TNLG7C, XHED, XLHED |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human EDA often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- death receptor binding
- receptor binding domain
- TNF homology domain
- TNF
- receptor agonist activity
- protein binding
- receptor binding
- cytokine
Pathways
Biological processes and signaling networks where the EDA gene in human plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- Christ-Siemens-Touraine syndrome
- X-linked selective tooth agenesis-1
- ectodermal dysplasia
- oligodontia
- hypodontia
- hereditary disorder
- myodegeneration
- hypohidrotic ectodermal dysplasia
- systemic lupus erythematosus
- neuroticism
role in cell
- number
- apoptosis
- quantity
- phosphorylation in
- expression in
- adhesion
- proliferation
- survival
- atrophy
- transactivation in
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Plasma Membrane
- intracellular membrane-bounded organelle
- cytoskeleton
- Extracellular Space
- apical compartment
- cellular membrane
- lipid droplets
- endoplasmic reticulum membrane
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human EDA gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- cell-matrix adhesion
- salivary gland cavitation
- trachea gland development
- positive regulation of canonical Wnt receptor signaling pathway
- positive regulation of I-kappaB kinase/NF-kappaB cascade
- hair follicle placode formation
- odontogenesis of dentin-containing tooth
- organ development
- immune response
- pigmentation
- positive regulation of gene expression
- cytokine-mediated signaling pathway
- cell differentiation
- gene expression
- canonical Wnt receptor signaling pathway
Cellular Component
Where in the cell the gene product is active
- lipid particle
- endoplasmic reticulum membrane
- extracellular space
- cytoskeleton
- apical part of cell
- intracellular membrane-bounded organelle
- collagen
- membrane
- plasma membrane
Molecular Function
What the gene product does at the molecular level
- protein binding
- tumor necrosis factor receptor binding
- death receptor binding
- cytokine activity
- receptor binding