GJA3 Gene Summary [Human]
The protein encoded by this gene is a connexin and is a component of lens fiber gap junctions. Defects in this gene are a cause of zonular pulverulent cataract type 3 (CZP3). [provided by RefSeq, Jan 2010]
Details
| Type | Protein Coding |
| Official Symbol | GJA3 |
| Official Name | gap junction protein alpha 3 [Source:HGNC Symbol;Acc:HGNC:4277] |
| Ensembl ID | ENSG00000121743 |
| Bio databases IDs | |
| Aliases | gap junction protein alpha 3, connexin 46 |
| Synonyms | Cnx46, CTRCT14, Cx43, CX46, Cxnj1, CZP2, CZP3, gap junction protein alpha 3, gap junction protein, alpha 3, gap junction protein α 3, gap junction protein, α 3 |
| 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 GJA3 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
- intracellular loop
- Gap junction channel protein cysteine-rich domain
- channel/pore class transporter
- protein binding
- identical protein binding
- Connexin 40 C-terminal domain
- transporter
- Connexin
- gap-junction forming channel
Pathways
Biological processes and signaling networks where the GJA3 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
- embryonal nuclear cataract type 14
- nuclear pulverulent and posterior polar cataract type 14
- multiple types cataract 14
- organismal death
- diabetic nephropathy
- androgenic alopecia
- zonular pulverulent cataract 3
- central pulverulent cataract
- congenital cataract
- coppock-like cataract type 14
role in cell
- cell viability
- differentiation
- formation
- formation in
- activity
- response
- morphology
- coupling
- gap junction coupling in
- cell-to-cell spreading 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
- cell surface
- intracellular space
- perinuclear region
- cellular membrane
- trans Golgi network
- gap junction plaques
- gap junctions
- junctional complexes
- membrane rafts
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human GJA3 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- transmembrane transport
- cell-cell signaling
- visual perception
Cellular Component
Where in the cell the gene product is active
- connexon complex
- plasma membrane
Molecular Function
What the gene product does at the molecular level
- gap junction hemi-channel activity
- gap junction channel activity