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RHOB

Chr 2p24.1

ras homolog family member B

Aliases:
RHOH6, MST081
MANE:
ENST00000272233.6

Annotations refreshed 9 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Moderate Evidence (Amber)

  • Childhood onset hereditary spastic paraplegia

    MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Disease associations (Open Targets)

  • neurodegenerative disease

    0.45
  • cerebral palsy

    0.19
  • ventral hernia

    0.18
  • Recurrent pancreatitis

    0.11
  • neoplasm

    0.10
  • breast cancer

    0.10
  • breast carcinoma

    0.10
  • nonpapillary renal cell carcinoma

    0.09
  • non-small cell lung carcinoma

    0.08
  • osteosarcoma

    0.08

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

Protein function (UniProt)

Rho-related GTP-binding protein RhoB

Mediates apoptosis in neoplastically transformed cells after DNA damage. Not essential for development but affects cell adhesion and growth factor signaling in transformed cells. Plays a negative role in tumorigenesis as deletion causes tumor formation. Involved in intracellular protein trafficking of a number of proteins. Targets PKN1 to endosomes and is involved in trafficking of the EGF receptor from late endosomes to lysosomes. Also required for stability and nuclear trafficking of AKT1/AKT which promotes endothelial cell survival during vascular development. Serves as a microtubule-dependent signal that is required for the myosin contractile ring formation during cell cycle cytokinesis. Required for genotoxic stress-induced cell death in breast cancer cells

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.