• 3
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
PKD2 (HGNC:9009) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
polycystin 2, transient receptor potential cation channel
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
No previous names found
Alias symbols
PKD4, PC2, Pc-2, TRPP2
%HI
12.05(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0(Read more about gnomAD pLI score)
LOEUF
0.5(Read more about gnomAD LOEUF score)
Cytoband
4q22.1
Genomic Coordinates
GRCh37/hg19: chr4:88928787-88998929 NCBI Ensembl UCSC
GRCh38/hg38: chr4:88007635-88077777 NCBI Ensembl UCSC
MANE Select Transcript
NM_000297.4 ENST00000237596.7 (Read more about MANE Select)
Function
Component of a heteromeric calcium-permeable ion channel formed by PKD1 and PKD2 that is activated by interaction between PKD1 and a Wnt family member, such as WNT3A and WNT9B (PubMed:27214281). Can also form a functional, homotetrameric ion channel (PubMed:29899465). Functions as a cation channel involved in fluid-flow mechanosensation by the primary cilium in renal epithelium (PubMed:18695040). Functions as outward-rectifying K(+) channel, but is also permeable to Ca(2+), and to a much lesser ... (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-23191
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Sufficient Evidence for Haploinsufficiency (3)
Triplosensitivity:
No Evidence for Triplosensitivity (0)
Last Evaluated:
07/06/2012

Haploinsufficiency (HI) Score Details

HI Score:
3
HI Evidence Strength:
Sufficient Evidence for Haploinsufficiency (Disclaimer)
HI Disease:
HI Evidence:
  • PUBMED: PMID:8650545
    Mozichuki et al. (1996): Description of three distinct nonsense mutations segregating with polycystic kidney disease in three families.
  • PUBMED: PMID:9402976
    Viribay et al. (1997): Seven additional mutations are described segregating with disease amongst families - three nonsense and four frameshift deletions.
HI Evidence Comments:
See GeneReviews and OMIM entries for a detailed description of polycystic kidney disease, and additional information regarding the mutational spectrum of PKD2.

Triplosensitivity (TS) Score Details

TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)

Genomic View

Select assembly: (NC_000004.11) (NC_000004.12)