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ARAP3

Chr 5q31.3

ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3

Aliases:
FLJ21065, DRAG1
MANE:
ENST00000239440.9

Annotations refreshed 9 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Moderate Evidence (Amber)

  • Primary lymphoedema

    MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
  • Rare syndromic craniosynostosis or isolated multisuture synostosis

    MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Disease associations (Open Targets)

  • upper respiratory tract disorder

    0.33
  • mathematical ability

    0.32
  • Varicose veins

    0.26
  • alcohol drinking

    0.26
  • ocular hypotension

    0.22
  • lymphedema

    0.19
  • insomnia

    0.17
  • coronary atherosclerosis

    0.15
  • Parkinson disease

    0.13
  • prostate cancer

    0.11

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

Protein function (UniProt)

Arf-GAP with Rho-GAP domain, ANK repeat and PH domain-containing protein 3

Phosphatidylinositol 3,4,5-trisphosphate-dependent GTPase-activating protein that modulates actin cytoskeleton remodeling by regulating ARF and RHO family members. Is activated by phosphatidylinositol 3,4,5-trisphosphate (PtdIns(3,4,5)P3) binding. Can be activated by phosphatidylinositol 3,4-bisphosphate (PtdIns(3,4,5)P2) binding, albeit with lower efficiency. Acts on ARF6, RAC1, RHOA and CDC42. Plays a role in the internalization of anthrax toxin

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.