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PKD2

Synonyms
APKD2, PC2, PKD4, Pc-2, TRPP2
External resources
Summary
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.

Variant counts

The variants found in rare patients tested by 3billion are classified and counted according to ACMG guidelines. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
10
Likely pathogenic
1
VUS
1,334
Likely benign
1,797
Benign
3,067

Patient phenotypes

Proportions of phenotypes among 11 patients carrying pathogenic or likely pathogenic variants on PKD2 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
36.4%
Abnormality of the ear
27.3%
Abnormality of the genitourinary system
27.3%
Abnormality of head or neck
18.2%
Abnormality of the eye
18.2%
Abnormality of the musculoskeletal system
18.2%
Abnormality of blood and blood-forming tissues
9.1%
Abnormality of the cardiovascular system
9.1%
Abnormality of the digestive system
9.1%
Abnormality of the immune system
9.1%
Abnormality of the integument
9.1%
Growth abnormality
9.1%
Abnormal cellular phenotype
0%
Abnormality of limbs
0%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the endocrine system
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Neoplasm
0%

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