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TMEM17

Chr 2p15

transmembrane protein 17

Aliases:
FLJ34583
MANE:
ENST00000335390.6

Annotations refreshed 10 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • Fetal anomalies

    BIALLELIC, autosomal or pseudoautosomal
  • Cystic kidney disease

    BIALLELIC, autosomal or pseudoautosomal
  • Limb disorders

    BIALLELIC, autosomal or pseudoautosomal
  • Neurological ciliopathies

    BIALLELIC, autosomal or pseudoautosomal
  • Renal ciliopathies

    BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

  • prostate carcinoma

    0.51
  • prostate cancer

    0.42
  • smoking cessation

    0.39
  • Urinary incontinence

    0.39
  • substance-related disorder

    0.38
  • ciliopathy

    0.38
  • Meckel syndrome

    0.33
  • nicotine dependence

    0.31
  • mathematical ability

    0.30
  • neurodegenerative disease

    0.29

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

Protein function (UniProt)

Transmembrane protein 17

Transmembrane component of the tectonic-like complex, a complex localized at the transition zone of primary cilia and acting as a barrier that prevents diffusion of transmembrane proteins between the cilia and plasma membranes. Required for ciliogenesis and sonic hedgehog/SHH signaling (By similarity)

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.