| Entrez Gene ID | 114780 |
|---|---|
| Official Gene Symbol | PKD1L2 (GeneCards) |
| Full name | polycystin 1 like 2 (gene/pseudogene) |
| Location | 16q23.2 |
| Other ids | Vega : OTTHUMG00000166126 MIM : 607894 HGNC : HGNC:21715 Ensembl : ENSG00000166473 |
| Other names | PC1L2 |
| Summary | This gene encodes a member of the polycystin protein family. The encoded protein contains 11 transmembrane domains, a latrophilin/CL-1-like GPCR proteolytic site (GPS) domain, and a polycystin-1, lipoxygenase, alpha-toxin (PLAT) domain. This protein may function as a component of cation channel pores. This gene appears to be a polymorphic pseudogene in humans, where some individuals contain a non-functional allele. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2014] |
Found 3 variants in this database.
| Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
|---|---|---|---|---|---|---|---|
| 19441 | 114780 | PKD1L2 | 16 | 81261933 | 81261933 | Asymptomatic | HiSeq X Ten |
| 19489 | 114780 | PKD1L2 | 16 | 81254038 | 81254038 | Asymptomatic | HiSeq X Ten |
| 29233 | 114780 | PKD1L2 | 16 | 81134671 | 81134671 | Autism Spectrum Disorders | HiSeq X Ten PASM |