Ccdc134 Gene Summary [Mouse]
Predicted to enable protein-macromolecule adaptor activity. Acts upstream of or within several processes, including angiogenesis; embryonic organ development; and ventricular system development. Predicted to be located in cytosol and intracellular membrane-bounded organelle. Predicted to be active in endoplasmic reticulum lumen. Is expressed in several structures, including blood; endoderm; liver; neural tube; and somite. Human ortholog(s) of this gene implicated in osteogenesis imperfecta. Orthologous to human CCDC134 (coiled-coil domain containing 134). [provided by Alliance of Genome Resources, Apr 2025]
Details
| Type | Protein Coding |
| Official Symbol | Ccdc134 |
| Official Name | coiled-coil domain containing 134 [Source:MGI Symbol;Acc:MGI:1923707] |
| Ensembl ID | ENSMUSG00000068114 |
| Bio databases IDs | |
| Aliases | coiled-coil domain containing 134 |
| Synonyms | 2310042L06Rik, coiled-coil domain containing 134, OI22 |
| 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 Ccdc134 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- protein binding activity, bridging
- protein binding
- ERK and JNK pathways, inhibitor
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- neoplasia
- breast carcinoma
- Alzheimer disease
- hypoplasia
- bleeding
- osteogenesis imperfecta type XXII
- anemia
- cardiac hypertrophy
- carpal tunnel syndrome
- infection by HIV-1
regulated by
role in cell
- quantity
- proliferation
- expression in
- production in
- phosphorylation in
- signaling in
- number
- ossification by
- degradation in
- transactivation in
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- intracellular membrane-bounded organelle
- cytosol
- endoplasmic reticulum lumen
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the mouse Ccdc134 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- ventricular system development
- angiogenesis
- embryonic hemopoiesis
- placenta development
- regulation of ossification
Cellular Component
Where in the cell the gene product is active
- nucleus
- intracellular membrane-bounded organelle
- membrane
- cytosol
- endoplasmic reticulum
- extracellular region
Molecular Function
What the gene product does at the molecular level
- protein binding