PKD2 |
- 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
- 0.68(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
ClinGen Curation ID:
CCID:007676
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:
- polycystic kidney disease 2 Monarch
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)