GJB5
GJB5 Gene Summary
This gene encodes a member of the beta-type (group I) connexin family. The encoded protein is a gap junction protein involved in intercellular communication related to epidermal differentiation and environmental sensing. This gene has been linked to non-small cell lung cancer. [provided by RefSeq, Nov 2012]
Details
| Type | Protein Coding |
| Official Symbol | GJB5 |
| Official Name | gap junction protein beta 5 [Source:HGNC Symbol;Acc:HGNC:4287] |
| Ensembl ID | ENSG00000189280 |
| Bio databases IDs | |
| Aliases | gap junction protein beta 5, connexin 31.1 |
| Synonyms | Cnx31.1,CX31.1,Cxna,gap junction protein beta 5,gap junction protein, beta 5,gap junction protein β 5,gap junction protein, β 5 |
| 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
- transporter
- Connexin
Pathways
Biological processes and signaling networks where the GJB5 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
- IGLC2
- BPIFB1
- MIP
- LMNA
- SLC41A2
- GSK3B
- SLC30A2
- SEC22B
- CST4
- CLTC
disease
regulated by
- ESR1
- KHSRP
- tretinoin
- SMARCA4
- OSM
- PAGA
regulates
role in cell
- differentiation
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
- cellular membrane
- gap junctions
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the GJB5 gene, providing context for its role in the cell.
BIOLOGICAL PROCESS
Functions and activities the gene product is involved in
- transmembrane transport
- trophoblast giant cell differentiation
- epidermis development
- cell-cell signaling
- labyrinthine layer morphogenesis
CELLULAR COMPONENT
Where in the cell the gene product is active
- connexon complex
MOLECULAR FUNCTION
What the gene product does at the molecular level
- protein binding
- gap junction channel activity