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TMEM72

Chr 10q11.21

transmembrane protein 72

Aliases:
bA285G1.3, KSP37
MANE:
ENST00000389583.5

Annotations refreshed 9 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Moderate Evidence (Amber)

  • Cystic kidney disease

    BIALLELIC, autosomal or pseudoautosomal
  • Renal ciliopathies

    BIALLELIC, autosomal or pseudoautosomal
  • Tubulointerstitial kidney disease

    BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

  • hypertensive disorder

    0.37
  • corneal neovascularization

    0.29
  • Abnormality of refraction

    0.28
  • pernicious anemia

    0.28
  • cardiovascular disorder

    0.28
  • malignant renal pelvis neoplasm

    0.25
  • nephronophthisis

    0.25
  • stroke disorder

    0.23
  • alcohol drinking

    0.23
  • abscess

    0.22

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

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.