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RGS2

Chr 1q31.2

regulator of G protein signaling 2

MANE:
ENST00000235382.7

Annotations refreshed 9 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Moderate Evidence (Amber)

  • Bleeding and platelet disorders

    BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

  • cataract

    0.28
  • trauma complication

    0.27
  • spondylolisthesis

    0.27
  • neoplasm

    0.11
  • breast cancer

    0.11
  • breast carcinoma

    0.10
  • polyostotic fibrous dysplasia

    0.09
  • gastric cancer

    0.09
  • Alzheimer disease

    0.08
  • Huntington disease

    0.08

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

Protein function (UniProt)

Regulator of G protein signaling 2

Regulates G protein-coupled receptor signaling cascades. Inhibits signal transduction by increasing the GTPase activity of G protein alpha subunits, thereby driving them into their inactive GDP-bound form (PubMed:11063746, PubMed:19478087). It is involved in the negative regulation of the angiotensin-activated signaling pathway (PubMed:28784619). Plays a role in the regulation of blood pressure in response to signaling via G protein-coupled receptors and GNAQ. Plays a role in regulating the constriction and relaxation of vascular smooth muscle (By similarity). Binds EIF2B5 and blocks its activity, thereby inhibiting the translation of mRNA into protein (PubMed:19736320)

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.