PKD1L2 (polycystin 1 like 2 (gene/pseudogene))

2017-08-01  

Identity

HGNC
LOCATION
16q23.2
LOCUSID
ALIAS
PC1L2

Other Information

Locus ID:

NCBI: 114780
MIM: 607894
HGNC: 21715
Ensembl: ENSG00000166473

Variants:

dbSNP: 114780
ClinVar: 114780
TCGA: ENSG00000166473
COSMIC: PKD1L2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000166473ENST00000337114Q7Z442
ENSG00000166473ENST00000526632H0YEQ7
ENSG00000166473ENST00000527937Q7Z442
ENSG00000166473ENST00000531391Q7Z442

Expression (GTEx)

0
1
2
3
4
5
6

References

Pubmed IDYearTitleCitations
276050202017A copy number variation in PKD1L2 is associated with colorectal cancer predisposition in korean population.5
276050202017A copy number variation in PKD1L2 is associated with colorectal cancer predisposition in korean population.5
198442552010Fine mapping and association studies of a high-density lipoprotein cholesterol linkage region on chromosome 16 in French-Canadian subjects.10
198442552010Fine mapping and association studies of a high-density lipoprotein cholesterol linkage region on chromosome 16 in French-Canadian subjects.10
195781802009Upregulation of PKD1L2 provokes a complex neuromuscular disease in the mouse.9
195781802009Upregulation of PKD1L2 provokes a complex neuromuscular disease in the mouse.9
152032102004Polycystin-1L2 is a novel G-protein-binding protein.27
152032102004Polycystin-1L2 is a novel G-protein-binding protein.27
127821292003Identification of two novel polycystic kidney disease-1-like genes in human and mouse genomes.31
127821292003Identification of two novel polycystic kidney disease-1-like genes in human and mouse genomes.31

Citation

Dessen P

PKD1L2 (polycystin 1 like 2 (gene/pseudogene))

Atlas Genet Cytogenet Oncol Haematol. 2017-08-01

Online version: http://atlasgeneticsoncology.org/gene/56939/pkd1l2-(polycystin-1-like-2-(gene-pseudogene))