Gja8 Gene Summary [Mouse]
Predicted to enable gap junction channel activity and identical protein binding activity. Acts upstream of or within lens development in camera-type eye. Located in plasma membrane. Is expressed in several structures, including eye; testis; and thyroid gland. Used to study cataract 1 multiple types. Human ortholog(s) of this gene implicated in cataract and cataract 1 multiple types. Orthologous to human GJA8 (gap junction protein alpha 8). [provided by Alliance of Genome Resources, Jul 2025]
Details
| Type | Protein Coding |
| Official Symbol | Gja8 |
| Official Name | gap junction protein, alpha 8 [Source:MGI Symbol;Acc:MGI:99953] |
| Ensembl ID | ENSMUSG00000049908 |
| Bio databases IDs | |
| Aliases | gap junction protein, alpha 8 |
| Synonyms | Aey5, CAE, CAE1, Cnx50, connexin 50, CTRCT1, CX50, Cxnl, CZP1, dcm, gap junction protein alpha 8, gap junction protein, alpha 8, gap junction protein α 8, gap junction protein, α 8, LOC101060402, Lop10, MP70 |
| Species | Mouse, Mus musculus |
| 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 mouse Gja8 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 alpha-8 protein (Cx50)
- Gap junction channel protein cysteine-rich domain
- protein binding
- identical protein binding
- transporter
- Connexin
- gap-junction forming channel
Pathways
Biological processes and signaling networks where the Gja8 gene in mouse 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
- zonular pulverulent cataract type 1
- juvenile-onset cataract 46
- multiple types cataract 1
- cataract 1 with microcornea
- cataract disease
- isolated microphthalmia with cataract type 1
- hereditary disorder
- autosomal dominant perinuclear cataract
- primary congenital aphakia
- anterior segment dysgenesis
role in cell
- growth
- quantity
- apoptosis
- cell viability
- formation
- number
- differentiation
- enucleation
- abnormal morphology
- density
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
- membrane fraction
- cellular membrane
- gap junction plaques
- gap junctions
- junctional complexes
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the mouse Gja8 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
- regulation of granulocyte macrophage colony-stimulating factor production
- lens development in camera-type eye
Cellular Component
Where in the cell the gene product is active
- connexon complex
- plasma membrane
Molecular Function
What the gene product does at the molecular level
- identical protein binding
- protein binding
- gap junction channel activity