PKD2 (polycystin 2, transient receptor potential cation channel)

2003-05-01  

Identity

HGNC
PKD2
LOCATION
4q22.1
LOCUSID
5311
ALIAS
APKD2,PC2,PKD4,Pc-2,TRPP2
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 5311
MIM: 173910
HGNC: 9009
Ensembl: ENSG00000118762

Variants:

dbSNP: 5311
ClinVar: 5311
TCGA: ENSG00000118762
COSMIC: PKD2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000118762ENST00000237596Q13563
ENSG00000118762ENST00000502363B4DFN3
ENSG00000118762ENST00000508588B4DFN3

Expression (GTEx)

0
50
100
150
200
250
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

Pathways

PathwaySourceExternal ID
Organelle biogenesis and maintenanceREACTOMER-HSA-1852241
Cilium AssemblyREACTOMER-HSA-5617833
Cargo trafficking to the periciliary membraneREACTOMER-HSA-5620920
VxPx cargo-targeting to ciliumREACTOMER-HSA-5620916

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA448320allopurinolChemicalClinicalAnnotation, VariantAnnotationassociatedPD30924126

References

Pubmed IDYearTitleCitations
372319422024Mutation Analysis of PKD1 and PKD2 Genes in a Large Italian Cohort Reveals Novel Pathogenic Variants Including a Novel Complex Rearrangement.1
385272212024Comprehensive Analysis of PKD1 and PKD2 by Long-Read Sequencing in Autosomal Dominant Polycystic Kidney Disease.0
372319422024Mutation Analysis of PKD1 and PKD2 Genes in a Large Italian Cohort Reveals Novel Pathogenic Variants Including a Novel Complex Rearrangement.1
385272212024Comprehensive Analysis of PKD1 and PKD2 by Long-Read Sequencing in Autosomal Dominant Polycystic Kidney Disease.0
367152102023Regulation of PKD2 channel by TACAN: how does it link to cystogenesis in autosomal dominant polycystic kidney disease?0
367966222023circPKD2 inhibits the glioma cell proliferation, invasion and glycolytic metabolism through regulating the miR-1278/LATS2 axis.2
370287632023The diverse effects of pathogenic point mutations on ion channel activity of a gain-of-function polycystin-2.1
371405262023Polycystin-2, mechanosensing, and left-right asymmetry in autosomal dominant polycystic kidney disease.1
374688382023Identified eleven exon variants in PKD1 and PKD2 genes that altered RNA splicing by minigene assay.0
367152102023Regulation of PKD2 channel by TACAN: how does it link to cystogenesis in autosomal dominant polycystic kidney disease?0
367966222023circPKD2 inhibits the glioma cell proliferation, invasion and glycolytic metabolism through regulating the miR-1278/LATS2 axis.2
370287632023The diverse effects of pathogenic point mutations on ion channel activity of a gain-of-function polycystin-2.1
371405262023Polycystin-2, mechanosensing, and left-right asymmetry in autosomal dominant polycystic kidney disease.1
374688382023Identified eleven exon variants in PKD1 and PKD2 genes that altered RNA splicing by minigene assay.0
342573922022Identification of novel single-nucleotide variants altering RNA splicing of PKD1 and PKD2.1

Citation

Dessen P

PKD2 (polycystin 2, transient receptor potential cation channel)

Atlas Genet Cytogenet Oncol Haematol. 2003-05-01

Online version: http://atlasgeneticsoncology.org/gene/41726