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VAPB

Chr 20q13.32

VAMP associated protein B and C

Aliases:
VAP-B, VAP-C, ALS8
MANE:
ENST00000475243.6
OMIM: 605704 ↗NCBI: 9217 ↗Ensembl ↗

Annotations refreshed 1 month ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • Adult onset neurodegenerative disorder

    MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

  • Amyotrophic lateral sclerosis/motor neuron disease

    MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

  • Hereditary neuropathy or pain disorder

    MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

  • Paediatric motor neuronopathies

    MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Disease associations (Open Targets)

  • amyotrophic lateral sclerosis type 8

    0.73

  • amyotrophic lateral sclerosis

    0.66

  • adult-onset proximal spinal muscular atrophy, autosomal dominant

    0.65

  • neurodegenerative disease

    0.47

  • amyotrophic lateral sclerosis, dominant

    0.37

  • alcohol drinking

    0.30

  • type 2 diabetes mellitus

    0.27

  • poisoning

    0.26

  • Crohn disease

    0.22

  • hereditary disease

    0.19

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

Protein function (UniProt)

Vesicle-associated membrane protein-associated protein B/C

Endoplasmic reticulum (ER)-anchored protein that mediates the formation of contact sites between the ER and endosomes via interaction with FFAT motif-containing proteins such as STARD3 or WDR44 (PubMed:32344433, PubMed:33124732). Interacts with STARD3 in a FFAT motif phosphorylation dependent manner (PubMed:33124732). Via interaction with WDR44 participates in neosynthesized protein export (PubMed:32344433). Participates in the endoplasmic reticulum unfolded protein response (UPR) by inducing ERN1/IRE1 activity (PubMed:16891305, PubMed:20940299). Involved in cellular calcium homeostasis regulation (PubMed:22131369)

Diseases associated with VAPB

Curated MONDO disease pages that list VAPB 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.