Vps13b Gene Summary [Mouse]
Enables phosphatidylinositol-3-phosphate binding activity. Involved in acrosome assembly; central nervous system development; and maintenance of lens transparency. Acts upstream of or within several processes, including dentate gyrus development; head morphogenesis; and social behavior. Located in acrosomal membrane. Used to study Cohen syndrome and cataract. Human ortholog(s) of this gene implicated in Cohen syndrome. Orthologous to human VPS13B (vacuolar protein sorting 13 homolog B). [provided by Alliance of Genome Resources, Jul 2025]
Details
| Type | Protein Coding |
| Official Symbol | Vps13b |
| Official Name | vacuolar protein sorting 13B [Source:MGI Symbol;Acc:MGI:1916380] |
| Ensembl ID | ENSMUSG00000037646 |
| Bio databases IDs | |
| Aliases | vacuolar protein sorting 13B |
| Synonyms | 1810042B05RIK, 2310042E16RIK, 4732488H20, BLTP5B, C330002D13RIK, CHS1, COH1, Cohh1, D230005K13, KIAA0532, LOC102555534, vacuolar protein sorting 13B, vacuolar protein sorting 13 homolog B |
| 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 Vps13b often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Vacuolar-sorting-associated 13 protein C-terminal
- N-terminal region of Chorein or VPS13
- zDHHC ankyrin repeat binding domain
- Autophagy-related protein C terminal domain
- phosphatidylinositol binding
- transporter
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- schizophrenia
- Cohen syndrome
- retinitis pigmentosa
- hereditary disorder
- congenital long QT syndrome
- severe COVID-19
- hippocampal atrophy
- major depression
- microcephaly
- cholelithiasis
regulates
- collagen
role in cell
- apoptosis
- morphology
- formation
- formation in
- assembly
- association
- abnormal morphology
- transformation
- lack
- disruption
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Nucleus
- perinuclear region
- cellular membrane
- Golgi Apparatus
- ER-to-Golgi intermediate compartment
- Golgi membrane
- trans Golgi network
- acrosome
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the mouse Vps13b gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- acrosome assembly
- lipid transport
- central nervous system development
- vesicle-mediated transport
- neuron projection development
- Golgi organization
- nervous system development
- slow endocytic recycling
- adipose tissue development
Cellular Component
Where in the cell the gene product is active
- early endosome membrane
- acrosomal membrane
- Golgi membrane
- recycling endosome membrane
- lysosomal membrane
- endoplasmic reticulum-Golgi intermediate compartment membrane
Molecular Function
What the gene product does at the molecular level
- phosphatidylinositol-3-phosphate binding