GJD2 Gene Summary [Human]
This gene encodes a member of the connexin protein family. Connexins are gap junction proteins which are arranged in groups of 6 around a central pore to form a connexon, a component of the gap junction intercellular channel. The channels formed by this protein allow cationic molecule exchange between human beta cells and may function in the regulation of insulin secretion. [provided by RefSeq, Oct 2012]
Details
| Type | Protein Coding |
| Official Symbol | GJD2 |
| Official Name | gap junction protein delta 2 [Source:HGNC Symbol;Acc:HGNC:19154] |
| Ensembl ID | ENSG00000159248 |
| Bio databases IDs | |
| Aliases | gap junction protein delta 2, connexin 36 |
| Synonyms | connexin36, cx35/36, CX36, Cxns, gap junction protein delta 2, gap junction protein, delta 2, gap junction protein δ 2, gap junction protein, δ 2, GJA9 |
| 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 GJD2 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
- Connexin
Pathways
Biological processes and signaling networks where the GJD2 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
- cold allodynia
role in cell
- apoptosis
- activation
- formation
- coupling
- segregation
- response by
- inhibitory postsynaptic potential
- excitatory postsynaptic potential
- response
- firing
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
- Cytoplasm
- cellular membrane
- cell-cell contacts
- gap junction plaques
- gap junctions
- membrane rafts
- dendrites
- axon terminals
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human GJD2 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
- synaptic transmission
- visual perception
- regulation of action potential in neuron
Cellular Component
Where in the cell the gene product is active
- connexon complex
- synapse
- plasma membrane
Molecular Function
What the gene product does at the molecular level
- gap junction channel activity