Genopathy
Gene-Disorder Association · Article
Gene
PKD2
Polycystin 2, Transient Receptor Potential Cation Channel
Disorder
Autosomal Dominant Polycystic Kidney Disease
First reported 1996
Supporting publications 51
Key publication · gene–disorder PKD2, a gene for polycystic kidney disease that encodes an integral membrane protein.Science (New York, N.Y.) · 1996
Key publication · disorder Adult polycystic kidney disease: studies of the defect in urine concentration.Kidney international · 1972
Manually curated
Association Review

In brief

The association between PKD2 (Polycystin 2, Transient Receptor Potential Cation Channel) and Autosomal Dominant Polycystic Kidney Disease is well established and manually curated, with its 3 contributing sources — 2 of them expert-curated — recording pathogenic and likely-pathogenic variants and a causative germline mutation.

Sources 3
Clinical variants 715
Symptoms 26
Compounds 0
Trials 0
Publications 51
01
At a glance

Association overview

A cited synthesis of the gene–disorder association, with a clinical-actionability summary where the evidence supports one.

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02
Provenance

Evidence and sources

3 sources

Every contributing database and publication behind this association, with evidence type, strength, accessions and deep links.

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03
PKD2

The gene

1 source summary

A gene summary alongside the source descriptions it was distilled from.

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04
Autosomal Dominant Polycystic Kidney Disease

The disorder

12 database identifiers

The disorder’s summary, prevalence, aliases and cross-reference identifiers (OMIM, Orphanet, MONDO, ICD-10, MedGen).

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05
Phenotype

Clinical features

26 clinical features

The disorder’s clinical features (HPO) grouped by body system, each with observed frequency and penetrance.

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06
ClinVar and variant evidence

Genetic basis

715 clinical variants

ClinVar variants reported for this pair, with disorder-specific significance, review status, molecular consequence and origin.

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07
Population genetics

GWAS signals

1 GWAS phenotype

Gene-associated GWAS phenotypes matching the disorder, with best SNP, score, risk-allele frequency and effect size.

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08
Mechanism overlap

Shared mechanisms

Biological pathways and phenotype concepts shared by the gene and the disorder, with supporting publications.

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09
Literature

Reading

51 publications

Publications linking the gene and the disorder, with title, authors, journal, year and citation metrics.

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10
Provenance

References & sources

15 references

Every source and publication cited across this dossier, as one numbered reference list.

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