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VPS45

Chr 1q21.2

vacuolar protein sorting 45 homolog

Aliases:
h-vps45, H1
MANE:
ENST00000644510.2

Annotations refreshed 9 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • COVID-19 research

    BIALLELIC, autosomal or pseudoautosomal
  • Cytopenia - NOT Fanconi anaemia

    BIALLELIC, autosomal or pseudoautosomal
  • Cytopenias and congenital anaemias

    BIALLELIC, autosomal or pseudoautosomal
  • Primary immunodeficiency or monogenic inflammatory bowel disease

    BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

  • congenital neutropenia-myelofibrosis-nephromegaly syndrome

    0.78
  • Recurrent infections-myelofibrosis-nephromegaly syndrome

    0.74
  • severe congenital neutropenia

    0.55
  • neurodegenerative disease

    0.46
  • COVID-19

    0.37
  • hereditary disease

    0.19
  • mathematical ability

    0.14
  • schizophrenia

    0.11
  • deep vein thrombosis

    0.09
  • hepatocellular carcinoma

    0.09

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

Protein function (UniProt)

Vacuolar protein sorting-associated protein 45

May play a role in vesicle-mediated protein trafficking from the Golgi stack through the trans-Golgi network

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.