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ARHGDIA

Chr 17q25.3

Rho GDP dissociation inhibitor alpha

Aliases:
RHOGDI
MANE:
ENST00000269321.12

Annotations refreshed 9 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • Proteinuric renal disease

    BIALLELIC, autosomal or pseudoautosomal
  • Unexplained kidney failure in young people

    BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

  • nephrotic syndrome, type 8

    0.62
  • familial idiopathic steroid-resistant nephrotic syndrome

    0.58
  • neurodegenerative disease

    0.50
  • nephrotic syndrome

    0.47
  • Familial advanced sleep-phase syndrome

    0.37
  • hereditary disease

    0.19
  • congenital nephrotic syndrome, Finnish type

    0.13
  • chronic kidney disease

    0.12
  • glioma

    0.09
  • central nervous system cancer

    0.09

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

Protein function (UniProt)

Rho GDP-dissociation inhibitor 1

Controls Rho proteins homeostasis. Regulates the GDP/GTP exchange reaction of the Rho proteins by inhibiting the dissociation of GDP from them, and the subsequent binding of GTP to them. Retains Rho proteins such as CDC42, RAC1 and RHOA in an inactive cytosolic pool, regulating their stability and protecting them from degradation. Actively involved in the recycling and distribution of activated Rho GTPases in the cell, mediates extraction from membranes of both inactive and activated molecules due its exceptionally high affinity for prenylated forms. Through the modulation of Rho proteins, may play a role in cell motility regulation. In glioma cells, inhibits cell migration and invasion by mediating the signals of SEMA5A and PLXNB3 that lead to inactivation of RAC1

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.