PKD2L1 Chromosome 10
Polycystin 2 like 1, transient receptor potential cation channel
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What This Gene Does
This gene encodes a member of the polycystin protein family. The encoded protein contains multiple transmembrane domains, and cytoplasmic N- and C-termini. The protein may be an integral membrane protein involved in cell-cell/matrix interactions. This protein functions as a calcium-regulated nonselective cation channel. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]
Gene Info
Gene Group
Transient receptor potential cation channels
Locus Type
gene with protein product
Location
10q24.31
Ensembl
ENSG00000107593
Key Variants
All Variants (2)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS112366839 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS115252223 | Health Risk | Conflicting classifications of pathogenicity | — |