Back to discover

VPS13B

Gene

vacuolar protein sorting 13 homolog B

HGNCHGNC:2183EnsemblENSG00000132549NCBI Gene157680
Locus: gene with protein productLocation: 8q22.2

Also known as

Symbols and names change; identity (the HGNC ID) does not. Previous and alternative forms are kept distinct.

Also known asCHS1 · COH1 · BLTP5B
View full nomenclature history (6)
Previous symbolsCHS1, COH1
Alias symbolsBLTP5B
Previous namesCohen syndrome 1, vacuolar protein sorting 13 homolog B (yeast)
Alias namesbridge-like lipid transfer protein family member 5B

Associated diseases

via associated_with

Diseases linked to this gene through the canonical GENE→DISEASE (associated_with) relation, drawn from Open Targets' top-ranked associations by overall score — not the full association set. Disease-level detail lives on each disease's own page.

Genetic Diseases, Inborn
Microcephaly
Retinitis Pigmentosa
Neutropenia

Drawn from Open Targets’ top 10 associations by overall score for this gene — the subset resolved to a canonical disease. Lower-ranked associations, and diseases not yet canonicalised, are not shown.

Gene family

HGNC gene-group membership.

Bridge-like lipid transfer protein family

Provenance

HGNCCanonical human gene identity from HGNC (release 2026-07-07), updated 2023-03-15.
Open TargetsGene–disease associations from the Open Targets Platform.