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SNX10

Chr 7p15.2

sorting nexin 10

MANE:
ENST00000338523.9

Annotations refreshed 10 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • COVID-19 research

    BIALLELIC, autosomal or pseudoautosomal
  • Fetal anomalies

    BIALLELIC, autosomal or pseudoautosomal
  • Hydrocephalus

    BIALLELIC, autosomal or pseudoautosomal
  • Osteopetrosis

    BIALLELIC, autosomal or pseudoautosomal
  • Skeletal dysplasia

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

    BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

  • Autosomal recessive malignant osteopetrosis

    0.78
  • metabolic syndrome

    0.39
  • hypertensive disorder

    0.37
  • response to xenobiotic stimulus

    0.35
  • smoking behavior

    0.32
  • osteopetrosis

    0.28
  • cardiovascular disorder

    0.27
  • male reproductive organ cancer

    0.26
  • Abnormality of the skeletal system

    0.20
  • nephrotic syndrome

    0.19

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

Protein function (UniProt)

Sorting nexin-10

Probable phosphoinositide-binding protein involved in protein sorting and membrane trafficking in endosomes. Plays a role in cilium biogenesis through regulation of the transport and the localization of proteins to the cilium. Required for the localization to the cilium of V-ATPase subunit ATP6V1D and ATP6V0D1, and RAB8A. Involved in osteoclast differentiation and therefore bone resorption

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.