GJC3
GJC3 Gene Summary
This gene encodes a gap junction protein. The encoded protein, also known as a connexin, plays a role in formation of gap junctions, which provide direct connections between neighboring cells. Mutations in this gene have been reported to be associated with nonsyndromic hearing loss.[provided by RefSeq, Feb 2010]
Details
| Type | Protein Coding |
| Official Symbol | GJC3 |
| Official Name | gap junction protein gamma 3 [Source:HGNC Symbol;Acc:HGNC:17495] |
| Ensembl ID | ENSG00000176402 |
| Bio databases IDs | |
| Aliases | gap junction protein gamma 3, connexin 30.2 |
| Synonyms | CX29,CX30.2,CX31.3,Cxnp1,gap junction protein gamma 3,gap junction protein, gamma 3,gap junction protein γ 3,gap junction protein, γ 3,GJE1 |
| Species | Human, Homo sapiens |
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 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
- identical protein binding
- transporter
- Connexin
- gap-junction forming channel
Pathways
Biological processes and signaling networks where the GJC3 gene 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.
binds
- MS4A13
- UBC
- STX7
disease
- Huntington disease
regulated by
- SOX2
- ADAM10
- honokiol
- MCOLN1
regulates
role in cell
- myelination
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Extracellular Space
- cellular membrane
- myelin sheath
- gap junctions
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the GJC3 gene, providing context for its role in the cell.
BIOLOGICAL PROCESS
Functions and activities the gene product is involved in
- sensory perception of sound
- transmembrane transport
- cell-cell signaling
- myelination
- AV node cell to bundle of His cell communication by electrical coupling
CELLULAR COMPONENT
Where in the cell the gene product is active
- myelin sheath
- connexon complex
MOLECULAR FUNCTION
What the gene product does at the molecular level
- gap junction channel activity involved in AV node cell-bundle of His cell electrical coupling
- identical protein binding
- protein binding
- gap junction channel activity