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VPS13B

Chr 8q22.2

vacuolar protein sorting 13 homolog B

Aliases:
BLTP5B
MANE:
ENST00000357162.7
OMIM: 607817 ↗NCBI: 157680 ↗Ensembl ↗

Annotations refreshed 1 month ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • COVID-19 research

    BIALLELIC, autosomal or pseudoautosomal

  • DDG2P

    BIALLELIC, autosomal or pseudoautosomal

  • Fetal anomalies

    BIALLELIC, autosomal or pseudoautosomal

  • Intellectual disability

    BIALLELIC, autosomal or pseudoautosomal

  • Neurological ciliopathies

    BIALLELIC, autosomal or pseudoautosomal

  • Ophthalmological ciliopathies

    BIALLELIC, autosomal or pseudoautosomal

  • Primary immunodeficiency or monogenic inflammatory bowel disease

    BIALLELIC, autosomal or pseudoautosomal

  • Rare multisystem ciliopathy disorders

    BIALLELIC, autosomal or pseudoautosomal

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Disease associations (Open Targets)

  • Cohen syndrome

    0.86

  • hereditary disease

    0.55

  • Intellectual disability

    0.51

  • microcephaly

    0.50

  • Retinal dystrophy

    0.49

  • retinitis pigmentosa

    0.48

  • Abnormality of the nervous system

    0.44

  • neutropenia

    0.43

  • Decreased total neutrophil count

    0.43

  • Global developmental delay

    0.43

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Intermembrane lipid transfer protein VPS13B

Mediates the transfer of lipids between membranes at organelle contact sites (By similarity). Binds phosphatidylinositol 3-phosphate (By similarity). Functions as a tethering factor in the slow endocytic recycling pathway, to assist traffic between early and recycling endosomes (PubMed:24334764, PubMed:30962439, PubMed:32375900). Involved in the transport of proacrosomal vesicles to the nuclear dense lamina (NDL) during spermatid development (By similarity). Plays a role in the assembly of the Golgi apparatus, possibly by mediating trafficking to the Golgi membrane (PubMed:21865173). Plays a role in the development of the nervous system, and may be required for neuron projection development (PubMed:25492866, PubMed:32560273). May also play a role during adipose tissue development (PubMed:26358774). Required for maintenance of the ocular lens (By similarity)

Diseases associated with VPS13B

Curated MONDO disease pages that list VPS13B among their top associated genes.

Data sources: HGNC (CC BY 4.0), AlphaFold (CC BY 4.0, Jumper et al. Nature 2021), Genomics England PanelApp (CC BY 4.0), ClinGen, Open Targets (CC0), UniProt.

Not for sole clinical decision-making. Always verify against primary sources.