GJB4 Gene Summary [Human]
This gene encodes a transmembrane connexin protein that is a component of gap junctions. Mutations in this gene have been associated with erythrokeratodermia variabilis, progressive symmetric erythrokeratoderma and hearing impairment. [provided by RefSeq, Dec 2009]
Details
| Type | Protein Coding |
| Official Symbol | GJB4 |
| Official Name | gap junction protein beta 4 [Source:HGNC Symbol;Acc:HGNC:4286] |
| Ensembl ID | ENSG00000189433 |
| Bio databases IDs | |
| Aliases | gap junction protein beta 4, connexin 30.3 |
| Synonyms | Cnx30.3, Cnx30.3o, connexin 30.3, CX30.3, Cx30.3o, Cxnb, EKV, EKVP2, gap junction protein beta 4, gap junction protein, beta 4, gap junction protein β 4, gap junction protein, β 4, Gjb4o |
| 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 GJB4 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
- gap-junction forming channel
Pathways
Biological processes and signaling networks where the GJB4 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.
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 junction
- cellular membrane
- nucleoplasm
- nucleoli
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human GJB4 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- transmembrane transport
- sensory perception of smell
- cell-cell signaling
- olfactory behavior
Cellular Component
Where in the cell the gene product is active
- connexon complex
- cell junction
- nucleolus
- plasma membrane
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- protein binding
- gap junction channel activity