VPS13B
Vacuolar protein sorting 13 homolog B; Cohen syndrome gene
Gene Information Card
| Symbol | VPS13B |
|---|---|
| Full Name | Vacuolar protein sorting 13 homolog B |
| Gene Type | Protein coding |
| Chromosomal Location | 8q22.2 |
| NCBI Gene ID | 157680 ncbi.nlm.nih.gov/gene/157680 |
| Ensembl ID | ENSG00000132549 |
| UniProt ID | Q7Z7G8 |
| OMIM ID | 607817 |
| HGNC ID | 2183 |
| Aliases | COH1, Cohen syndrome protein, KIAA0532 |
Description
VPS13B encodes a protein involved in vesicle-mediated transport and autophagy. It localizes to the Golgi apparatus and endosomes, playing a critical role in intracellular membrane trafficking. Mutations in VPS13B cause Cohen syndrome, an autosomal recessive disorder characterized by developmental delay, microcephaly, and retinal dystrophy.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cohen syndrome | Loss-of-function mutations disrupt vesicle trafficking, leading to cellular dysfunction | ClinVar, OMIM |
| Autism spectrum disorder | Rare VPS13B variants may contribute to neurodevelopmental phenotypes | ClinVar |
| Intellectual disability | Biallelic mutations impair neuronal development | ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 15.2 | Medium |
| Testis | 12.8 | Medium |
| Adrenal gland | 10.5 | Medium |
| Liver | 8.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 18.1 | High expression |
| HeLa | 14.5 | Medium expression |
| SH-SY5Y | 11.2 | Medium expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.3348_3349delCT | Frameshift | Rare | Loss of function; associated with Cohen syndrome |
| c.6940C>T (p.Arg2314*) | Nonsense | Rare | Premature stop; loss of function |
| c.11293G>A (p.Gly3765Arg) | Missense | Rare | Likely damaging; disrupts protein function |
Mutation functional classification
Loss of Function (LOF)
Most VPS13B mutations are loss-of-function (nonsense, frameshift, splice-site), leading to Cohen syndrome.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations described.
View complete mutation data：
Gene Ontology (GO)
| • vesicle-mediated transport | • autophagy |
| • Golgi organization | • protein localization to organelle |
| • intracellular protein transport |
Pathways
• Autophagy
• Endocytosis
• Golgi-to-ER retrograde transport
Protein Summary
VPS13B is a large, multi-domain protein (approx. 4022 amino acids) that localizes to the Golgi and endosomes. It functions in vesicle tethering and lipid transfer at membrane contact sites. Defects in VPS13B impair autophagy and endosomal trafficking, contributing to the pathogenesis of Cohen syndrome.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| VPS13B Knockout HEK293 Cell Line | EDJ-KQ16105 | Human | 157680 | Details Get a Quote |
| VPS13B Knockout A-549 Cell Line | EDJ-KQ47260 | Human | 157680 | Details Get a Quote |
| VPS13B Knockout HCT 116 Cell Line | EDJ-KQ47261 | Human | 157680 | Details Get a Quote |
| VPS13B Knockout HeLa Cell Line | EDJ-KQ47262 | Human | 157680 | Details Get a Quote |
