PKD1L2 Chromosome 16

Polycystin 1 like 2 (gene/pseudogene)

1 variant 1 Health Risk

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What This Gene Does

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]

Gene Info

Gene Group

C-type lectin domain containing

Locus Type

gene with protein product

Location

16q23.2

Ensembl

ENSG00000166473

Associated Conditions (1)

Otosclerosis 4

Key Variants

RS200839960

Likely pathogenic

Otosclerosis 4, Otosclerosis 4

Health Risk

All Variants (1)

RSID	Category	Clinical Significance	Conditions
RS200839960	Health Risk	Likely pathogenic	Otosclerosis 4, Otosclerosis 4