TRPC5

Chr X

transient receptor potential cation channel subfamily C member 5

Also known as: PPP1R159, TRP5

NCBI Gene: 7224 ENSG00000072315 UniProt: Q9UL62

The protein forms a receptor-activated non-selective calcium permeant cation channel that regulates neuronal calcium influx and controls hypothalamic-mediated behaviors including feeding, anxiety, socialization, and maternal care. Loss-of-function mutations cause autosomal dominant neurodevelopmental disorders with extremely high constraint scores indicating severe intolerance to protein-truncating variants. The pathogenic mechanism involves disrupted calcium signaling leading to impaired neuronal function and altered innate behaviors.

ResearchSummary from RefSeq, UniProt

This gene belongs to the transient receptor family. It encodes one of the seven mammalian TRPC (transient receptor potential channel) proteins. The encoded protein is a multi-pass membrane protein and is thought to form a receptor-activated non-selective calcium permeant cation channel. The protein is active alone or as a heteromultimeric assembly with TRPC1, TRPC3, and TRPC4. It also interacts with multiple proteins including calmodulin, CABP1, enkurin, Na(+)-H+ exchange regulatory factor (NHERF ), interferon-induced GTP-binding protein (MX1), ring finger protein 24 (RNF24), and SEC14 domain and spectrin repeat-containing protein 1 (SESTD1). [provided by RefSeq, May 2010]

ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.17

LOEUF· LoF intol.

Multiple*

Mechanism· predicted

Some data sources returned errors (1)

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