PKD1L2

Chr 16

polycystin 1 like 2 (gene/pseudogene)

Also known as: PC1L2

NCBI Gene: 114780 ENSG00000166473 UniProt: Q7Z442 OMIM: 607894

The protein encoded by this gene is a member of the polycystin family that may function as a G-protein-coupled receptor or regulator of cation channel pores, containing transmembrane domains and specialized protein domains. This gene appears to be extremely tolerant to loss-of-function variation in the general population (very low constraint scores), and it is noted to be a polymorphic pseudogene in humans. No established Mendelian diseases have been definitively linked to PKD1L2 mutations in pediatric populations.

OMIM ResearchSummary from RefSeq, UniProt

This gene encodes a member of the polycystin protein family. This protein may function as a G-protein-coupled component or regulator of cation channel pores. The long isoform of this protein contains 11 transmembrane domains, a latrophilin/CL-1-like GPCR proteolytic site (GPS) domain, and a polycystin-1, lipoxygenase, alpha-toxin (PLAT) domain. Alternative splicing results in multiple transcript variants encoding distinct isoforms. This gene is a polymorphic pseudogene in humans. [provided by RefSeq, May 2022]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

1.76

LOEUF

Multiple*

Mechanism· predicted