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GNA14

Chr 9q21.2

G protein subunit alpha 14

MANE:
ENST00000341700.7

Annotations refreshed 1 month ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • DDG2P

    MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
  • Mosaic skin disorders - deep sequencing

    MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
  • Fetal anomalies

    MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Disease associations (Open Targets)

  • tufted angioma

    0.41
  • vascular neoplasm

    0.37
  • Choreoacanthocytosis

    0.34
  • chorea-acanthocytosis

    0.34
  • subarachnoid hemorrhage

    0.32
  • stroke disorder

    0.30
  • alcohol drinking

    0.30
  • central nervous system cancer

    0.29
  • cornea transplantation

    0.29
  • tooth disorder

    0.29

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

Protein function (UniProt)

Guanine nucleotide-binding protein subunit alpha-14

Guanine nucleotide-binding proteins (G proteins) are involved as modulators or transducers in various transmembrane signaling systems

Curated MONDO disease pages that list GNA14 among their top associated genes.

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.