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ARHGAP19

Chr 10q24.1

Rho GTPase activating protein 19

Aliases:
FLJ00194, MGC14258
MANE:
ENST00000358531.9

Annotations refreshed 9 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • Hereditary neuropathy

    BIALLELIC, autosomal or pseudoautosomal
  • Hereditary neuropathy or pain disorder

    BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

  • motor peripheral neuropathy

    0.46
  • Abnormality of the skeletal system

    0.32
  • type 2 diabetes mellitus

    0.30
  • risk-taking behaviour

    0.24
  • methicillin-resistant staphylococcus aureus infectious disease

    0.24
  • Abnormal blistering of the skin

    0.24
  • diabetes mellitus

    0.22
  • attention deficit-hyperactivity disorder

    0.14
  • major depressive disorder

    0.14
  • vulvitis

    0.12

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

Protein function (UniProt)

Rho GTPase-activating protein 19

Has GTPase activator activity toward RHOA; RHOA activation results in GTP hydrolysis and conversion from an active GTP-bound to an inactive GDP-bound state (PubMed:24259668, PubMed:41086021). Lacks GTPase activator activity toward RAC1 or CDC42 (PubMed:24259668)

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.