Cep104 Gene Summary [Mouse]
Predicted to enable glutamate binding activity; glycine binding activity; and thienylcyclohexylpiperidine binding activity. Predicted to be located in centriole. Predicted to be active in cilium. Is expressed in cerebral cortex ventricular layer and cortical plate. Human ortholog(s) of this gene implicated in Joubert syndrome 25 and autosomal recessive intellectual developmental disorder 77. Orthologous to human CEP104 (centrosomal protein 104). [provided by Alliance of Genome Resources, Jul 2025]
Details
| Type | Protein Coding |
| Official Symbol | Cep104 |
| Official Name | centrosomal protein 104 [Source:MGI Symbol;Acc:MGI:2687282] |
| Ensembl ID | ENSMUSG00000039523 |
| Bio databases IDs | |
| Aliases | centrosomal protein 104 |
| Synonyms | A930027E11, AI115523, centrosomal protein 104, CFAP256, GlyBP, JBTS25, KIAA0562, mKIAA0562, MRT77, ROC22, Tcpbp |
| 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 Cep104 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- TOG domain
- thienylcyclohexylpiperidine binding
- glycine binding
- glutamate binding
- protein binding
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- schizophrenia
- dental caries
- Joubert syndrome related disorder
- Joubert syndrome type 25
- autosomal recessive intellectual developmental disorder type 77
- pervasive developmental disorder
regulated by
- (+)-MK-801
- CEP104
role in cell
- cell death
- binding in
- shortening
- shortening in
- ciliogenesis in
- polymerization
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
- cilia
- centriole
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the mouse Cep104 gene, providing context for its role in the cell.
Cellular Component
Where in the cell the gene product is active
- centrosome
- cytoplasm
- centriole
- spindle pole
- cilium
Molecular Function
What the gene product does at the molecular level
- protein binding