GJA4 Gene Summary [Human]
This gene encodes a member of the connexin gene family. The encoded protein is a component of gap junctions, which are composed of arrays of intercellular channels that provide a route for the diffusion of low molecular weight materials from cell to cell. Mutations in this gene have been associated with atherosclerosis and a higher risk of myocardial infarction. [provided by RefSeq, Jul 2008]
Details
| Type | Protein Coding |
| Official Symbol | GJA4 |
| Official Name | gap junction protein alpha 4 [Source:HGNC Symbol;Acc:HGNC:4278] |
| Ensembl ID | ENSG00000187513 |
| Bio databases IDs | |
| Aliases | gap junction protein alpha 4, connexin 37 |
| Synonyms | Cnx37, Connexin37, CX37, CXN37, Cxnh1, gap junction protein alpha 4, gap junction protein, alpha 4, gap junction protein α 4, gap junction protein, α 4 |
| 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 GJA4 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Connexin homologues
- Gap junction channel protein cysteine-rich domain
- protein binding
- transporter
- Connexin
Pathways
Biological processes and signaling networks where the GJA4 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
- neoplasia
- anovulation
- angioimmunoblastic T-cell lymphoma
- primary central nervous system lymphoma
- bleeding
- congestion
- lymphomagenesis
- cutaneous venous malformation
- T-cell non-Hodgkin disease
- mature T-cell neoplasia
regulates
role in cell
- proliferation
- aggregation
- assembly
- meiosis
- autophagy in
- priming
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
- cell surface
- cellular membrane
- gap junctions
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human GJA4 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- response to pain
- transmembrane transport
- blood vessel development
- cell-cell junction assembly
- calcium ion transport
- cell-cell signaling
- endothelium development
Cellular Component
Where in the cell the gene product is active
- gap junction
- connexon complex
- plasma membrane
Molecular Function
What the gene product does at the molecular level
- protein binding
- gap junction channel activity