PKD2

Chr 4

polycystin 2, transient receptor potential cation channel

Also known as: APKD2, PC2, PKD4, Pc-2, TRPP2

NCBI Gene: 5311ENSG00000118762UniProt: Q13563

This gene encodes a member of the polycystin protein family. The encoded protein is a multi-pass membrane protein that functions as a calcium permeable cation channel, and is involved in calcium transport and calcium signaling in renal epithelial cells. This protein interacts with polycystin 1, and they may be partners in a common signaling cascade involved in tubular morphogenesis. Mutations in this gene are associated with autosomal dominant polycystic kidney disease type 2. [provided by RefSeq, Mar 2011]

GeneReviewsResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtPolycystic kidney disease 2 with or without polycystic liver disease

Clinical highlights

Gene-disease validity (ClinGen)
autosomal dominant polycystic kidney disease · ADDefinitivesufficient evidence for diagnostic panels
Interpreting a novel variant
This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.
2
Active trials
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Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.50
LOEUF
Multiple*
Mechanism· predicted
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GeneReview available — PKD2
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Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Moderate LoF intolerance
LoF Constraint?
0.50LOEUF
pLI 0.000
Z-score 4.36
OE 0.33 (0.22–0.50)
Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint?
0.27Z-score
OE missense 0.96 (0.89–1.04)
449 obs / 465.5 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.33 (0.22–0.50)
0≤0.351.4
Missense OE?0.96 (0.89–1.04)
0≤0.61.4
Synonymous OE?1.18
0≤1.21.6
LoF obs/exp: 16 / 48.9Missense obs/exp: 449 / 465.5Syn Z: -1.91

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

PKD2 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients