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

2017-08-01 Affiliation

Identity

HGNC

PKD1L2

LOCATION

16q23.2

LOCUSID

114780

ALIAS

PC1L2

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

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

Variants:

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

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000166473	ENST00000337114	Q7Z442
ENSG00000166473	ENST00000526632	H0YEQ7
ENSG00000166473	ENST00000527937	Q7Z442
ENSG00000166473	ENST00000531391	Q7Z442

Expression (GTEx)

Adipose - Subcutaneous

Adipose - Visceral

Adrenal Gland

Artery - Aorta

Artery - Tibial

Bladder

Brain - Amygdala

Brain - Anterior cingulate cortex

Brain - Caudate

Brain - Cerebellar Hemisphere

Brain - Cerebellum

Brain - Cortex

Brain - Frontal Cortex

Brain - Hippocampus

Brain - Hypothalamus

Brain - Nucleus accumbens

Brain - Putamen

Brain - Spinal cord

Brain - Substantia nigra

Breast - Mammary Tissue

Cells - Cultured fibroblasts

Cells - EBV - transformed lymphocytes

Cervix - Ectocervix

Cervix - Endocervix

Colon - Sigmoid

Colon - Transverse

Esophagus - Gastroesophageal Junction

Esophagus - Mucosa

Esophagus - Muscularis

Fallopian Tube

Heart - Atrial Appendage

Heart - Left Ventricle

Kidney - Cortex

Kidney - Medulla

Liver

Lung

Minor Salivary Gland

Muscle - Skeletal

Nerve - Tibial

Ovary

Pancreas

Pituitary

Prostate

Skin - Not Sun Exposed

Skin - Sun Exposed

Small Intestine - Terminal Ileum

Spleen

Stomach

Testis

Thyroid

Uterus

Vagina

Whole Blood

References

Pubmed ID	Year	Title	Citations
12782129	2003	Identification of two novel polycystic kidney disease-1-like genes in human and mouse genomes.	25
15203210	2004	Polycystin-1L2 is a novel G-protein-binding protein.	19
19844255	2010	Fine mapping and association studies of a high-density lipoprotein cholesterol linkage region on chromosome 16 in French-Canadian subjects.	9
19578180	2009	Upregulation of PKD1L2 provokes a complex neuromuscular disease in the mouse.	7
27605020	2017	A copy number variation in PKD1L2 is associated with colorectal cancer predisposition in korean population.	2

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