Tbc1d32 Gene Summary [Mouse]
Acts upstream of or within several processes, including camera-type eye development; non-motile cilium assembly; and regionalization. Predicted to be located in cilium and cytoplasm. Is expressed in embryo. Used to study Bardet-Biedl syndrome; Meckel syndrome; VACTERL association; and visceral heterotaxy. Orthologous to human TBC1D32 (TBC1 domain family member 32). [provided by Alliance of Genome Resources, Jul 2025]
Details
| Type | Protein Coding |
| Official Symbol | Tbc1d32 |
| Official Name | TBC1 domain family, member 32 [Source:MGI Symbol;Acc:MGI:2442827] |
| Ensembl ID | ENSMUSG00000038122 |
| Bio databases IDs | |
| Aliases | TBC1 domain family, member 32 |
| Synonyms | b2b2284Clo, BROMI, C6orf170, C6orf171, D630037F22Rik, TBC1 domain family member 32, TBC1 domain family, member 32 |
| 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 Tbc1d32 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Rab-GTPase-TBC domain
- 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
- retinitis pigmentosa
- congenital heart disease
- Joubert syndrome type 36
- hereditary disorder
- orofaciodigital syndrome type 9
- ciliopathy
regulated by
role in cell
- binding in
- cell viability
- assembly
- length
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- cellular membrane
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the mouse Tbc1d32 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- heart development
- kidney development
- retinal pigment epithelium development
- palate development
- lens development in camera-type eye
- determination of left/right symmetry
- smoothened signaling pathway involved in dorsal/ventral neural tube patterning
- embryonic digit morphogenesis
Cellular Component
Where in the cell the gene product is active
- cytoplasm
- cilium
Molecular Function
What the gene product does at the molecular level
- protein binding