GJB7
GJB7 Gene Summary
Connexins, such as GJB7, are involved in the formation of gap junctions, intercellular conduits that directly connect the cytoplasms of contacting cells. Each gap junction channel is formed by docking of 2 hemichannels, each of which contains 6 connexin subunits (Sohl et al., 2003 [PubMed 12881038]).[supplied by OMIM, Mar 2008]
Details
| Type | Protein Coding |
| Official Symbol | GJB7 |
| Official Name | gap junction protein beta 7 [Source:HGNC Symbol;Acc:HGNC:16690] |
| Ensembl ID | ENSG00000164411 |
| Bio databases IDs | |
| Aliases | gap junction protein beta 7, connexin 25 |
| Synonyms | bA136M9.1,connexin25,CX25,gap junction protein beta 7,gap junction protein β 7,LOC728362 |
| 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
- ion channel
- Connexin
- gap-junction forming channel
Pathways
Biological processes and signaling networks where the GJB7 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
- HRAS
- GNAO1
- AHNAK
- CCNY
- SVIP
- PAG1
- EEPD1
- GAP43
- PYGB
- PALM
disease
regulated by
regulates
role in cell
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
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the GJB7 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
CELLULAR COMPONENT
Where in the cell the gene product is active
- connexon complex
MOLECULAR FUNCTION
What the gene product does at the molecular level
- gap junction channel activity