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GNB4

Chr 3q26.33

G protein subunit beta 4

MANE:
ENST00000232564.8

Annotations refreshed 9 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • Hereditary neuropathy

    MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
  • Hereditary neuropathy or pain disorder

    MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Disease associations (Open Targets)

  • Charcot-Marie-Tooth disease dominant intermediate F

    0.64
  • Autosomal dominant intermediate Charcot-Marie-Tooth disease type F

    0.64
  • atrial fibrillation

    0.49
  • breast disorder

    0.28
  • kidney disorder

    0.28
  • Charcot-Marie-Tooth disease

    0.22
  • hereditary disease

    0.19
  • breast carcinoma

    0.12
  • gastric cancer

    0.10
  • Uterine leiomyoma

    0.10

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

Protein function (UniProt)

Guanine nucleotide-binding protein subunit beta-4

Guanine nucleotide-binding proteins (G proteins) are involved as a modulator or transducer in various transmembrane signaling systems. The beta and gamma chains are required for the GTPase activity, for replacement of GDP by GTP, and for G protein-effector interaction

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.