Identity
HGNC
LOCATION
4q22.1
LOCUSID
ALIAS
APKD2,PC2,PKD4,Pc-2,TRPP2
FUSION GENES
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: 5311
MIM: 173910
HGNC: 9009
Ensembl: ENSG00000118762
Variants:
dbSNP: 5311
ClinVar: 5311
TCGA: ENSG00000118762
COSMIC: PKD2
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000118762 | ENST00000237596 | Q13563 |
| ENSG00000118762 | ENST00000502363 | B4DFN3 |
| ENSG00000118762 | ENST00000508588 | B4DFN3 |
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
PharmGKB
| Entity ID | Name | Type | Evidence | Association | PK | PD | PMIDs |
|---|---|---|---|---|---|---|---|
| PA448320 | allopurinol | Chemical | ClinicalAnnotation, VariantAnnotation | associated | PD | 30924126 |
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 37231942 | 2024 | Mutation Analysis of PKD1 and PKD2 Genes in a Large Italian Cohort Reveals Novel Pathogenic Variants Including a Novel Complex Rearrangement. | 1 |
| 38527221 | 2024 | Comprehensive Analysis of PKD1 and PKD2 by Long-Read Sequencing in Autosomal Dominant Polycystic Kidney Disease. | 0 |
| 37231942 | 2024 | Mutation Analysis of PKD1 and PKD2 Genes in a Large Italian Cohort Reveals Novel Pathogenic Variants Including a Novel Complex Rearrangement. | 1 |
| 38527221 | 2024 | Comprehensive Analysis of PKD1 and PKD2 by Long-Read Sequencing in Autosomal Dominant Polycystic Kidney Disease. | 0 |
| 36715210 | 2023 | Regulation of PKD2 channel by TACAN: how does it link to cystogenesis in autosomal dominant polycystic kidney disease? | 0 |
| 36796622 | 2023 | circPKD2 inhibits the glioma cell proliferation, invasion and glycolytic metabolism through regulating the miR-1278/LATS2 axis. | 2 |
| 37028763 | 2023 | The diverse effects of pathogenic point mutations on ion channel activity of a gain-of-function polycystin-2. | 1 |
| 37140526 | 2023 | Polycystin-2, mechanosensing, and left-right asymmetry in autosomal dominant polycystic kidney disease. | 1 |
| 37468838 | 2023 | Identified eleven exon variants in PKD1 and PKD2 genes that altered RNA splicing by minigene assay. | 0 |
| 36715210 | 2023 | Regulation of PKD2 channel by TACAN: how does it link to cystogenesis in autosomal dominant polycystic kidney disease? | 0 |
| 36796622 | 2023 | circPKD2 inhibits the glioma cell proliferation, invasion and glycolytic metabolism through regulating the miR-1278/LATS2 axis. | 2 |
| 37028763 | 2023 | The diverse effects of pathogenic point mutations on ion channel activity of a gain-of-function polycystin-2. | 1 |
| 37140526 | 2023 | Polycystin-2, mechanosensing, and left-right asymmetry in autosomal dominant polycystic kidney disease. | 1 |
| 37468838 | 2023 | Identified eleven exon variants in PKD1 and PKD2 genes that altered RNA splicing by minigene assay. | 0 |
| 34257392 | 2022 | Identification 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/pkd2-(polycystin-2-transient-receptor-potential-cation-channel)
