Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Gene entry

PKD2

polycystin 2, transient receptor potential cation channel

Chromosome
4
Cytoband
4q22.1
Variants (rsID)
21

PKD2 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 4 (region 4q22.1). Its official name is “polycystin 2, transient receptor potential cation channel”. The reference table lists 21 variants (rsID) for this gene.

Clinically classified variants

5 reference-table entries with clinical significance.

  • rs143581690Benignsingle nucleotide variantAutosomal dominant polycystic kidney disease|Polycystic kidney disease|Polycystic kidney disease 2
  • rs147654263Benignsingle nucleotide variantAutosomal dominant polycystic kidney disease|Polycystic kidney disease 2|Polycystic kidney disease
  • rs2728121Benignsingle nucleotide variantPolycystic kidney disease 2
  • rs145343957Conflicting interpretationssingle nucleotide variantAutosomal dominant polycystic kidney disease|Polycystic kidney disease 2|Polycystic kidney disease
  • rs374450718Conflicting interpretationssingle nucleotide variantAutosomal dominant polycystic kidney disease

Other listed variants

Public references

Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.