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TRPC5

Chr Xq23

transient receptor potential cation channel subfamily C member 5

Aliases:
PPP1R159
MANE:
ENST00000262839.3

Annotations refreshed 9 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Moderate Evidence (Amber)

  • Intellectual disability

    X-LINKED: hemizygous mutation in males, biallelic mutations in females
  • Severe early-onset obesity

    X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
  • DDG2P

    X-LINKED: hemizygous mutation in males, biallelic mutations in females

Disease associations (Open Targets)

  • obesity due to melanocortin 4 receptor deficiency

    0.21
  • obesity disorder

    0.21
  • Obesity

    0.21
  • Intellectual disability

    0.12
  • breast carcinoma

    0.10
  • breast cancer

    0.10
  • colorectal carcinoma

    0.10
  • autism

    0.08
  • developmental and/or epileptic encephalopathy with spike-wave activation in sleep

    0.08
  • Hypoglycemia

    0.08

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

Protein function (UniProt)

Short transient receptor potential channel 5

Forms a receptor-activated non-selective calcium permeant cation channel (PubMed:16284075, PubMed:38959890, PubMed:37137991). Mediates calcium-dependent phosphatidylserine externalization and apoptosis in neurons via its association with PLSCR1 (By similarity). Acts on distinct neuronal populations in the hypothalamus to regulate innate behaviors including feeding, anxiety (flight/fight/fear), socialization, and maternal care (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.