GJC2 Gene Summary [Human]
This gene encodes a gap junction protein. Gap junction proteins are members of a large family of homologous connexins and comprise 4 transmembrane, 2 extracellular, and 3 cytoplasmic domains. This gene plays a key role in central myelination and is involved in peripheral myelination in humans. Defects in this gene are the cause of autosomal recessive Pelizaeus-Merzbacher-like disease-1. [provided by RefSeq, Jul 2008]
Details
| Type | Protein Coding |
| Official Symbol | GJC2 |
| Official Name | gap junction protein gamma 2 [Source:HGNC Symbol;Acc:HGNC:17494] |
| Ensembl ID | ENSG00000198835 |
| Bio databases IDs | |
| Aliases | gap junction protein gamma 2, connexin 47 |
| Synonyms | B230382L12Rik, CX46.6, Cx47, Cxno, gap junction protein gamma 2, gap junction protein, gamma 2, gap junction protein γ 2, gap junction protein, γ 2, GJA12, HLD2, LMPH1C, LMPHM3, PMLDAR, SPG44 |
| 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 GJC2 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
- transporter
- Connexin
- gap-junction forming channel
Pathways
Biological processes and signaling networks where the GJC2 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
- hereditary spastic ataxia
- Pelizaeus-Merzbacher-like disease
- hereditary disorder
- demyelination
- mental retardation
- experimental autoimmune encephalomyelitis
- hereditary lymphedema type IC
- astrocytosis
- spastic paraplegia
- autosomal recessive spastic paraplegia type 44
role in cell
- replication in
- proliferation
- quantity
- infiltration by
- formation
- thickness
- vacuolation
- morphology
- activation
- coupling
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
- axon component
- cellular membrane
- neurites
- myelin sheath
- gap junction plaques
- gap junctions
- membrane processes
- perikaryon
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human GJC2 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- transmembrane transport
- regulation of protein phosphorylation
- positive regulation of gene expression
- cell communication by electrical coupling
- cell-cell signaling
- negative regulation of G1/S transition of mitotic cell cycle
- response to toxin
- positive regulation of oligodendrocyte progenitor proliferation
Cellular Component
Where in the cell the gene product is active
- gap junction
- paranode region of axon
- myelin sheath
- connexon complex
- perikaryon
Molecular Function
What the gene product does at the molecular level
- gap junction channel activity