Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
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Polycystin 2

The gene product of PKD2 is a membrane protein that in its C terminus shows homology with Polycystin 1 the gene product of PKD1. Both play a role in tubular morphogenesis and either genes mutated results in autosomal dominant polycystic kidney disease.

Gene Structure

The gene located on chromosome 4 (4q21-q23) spans over 68 kb. It consists of 15 exons. Translation starts in exon 1. The promoter has no TATA box but contains binding sits for various transcription factors, including E2F, EGRF, ETS, MZF1, SP1, and ZBP89.

Genetests:

Clinic Method Carrier testing
Turnaround 5 days
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25 days
Specimen type genomic DNA
Clinic Method Genomic sequencing of the entire coding region
Turnaround 20 days
Specimen type genomic DNA
Clinic Method Multiplex Ligation-Dependent Probe Amplification
Turnaround 20 days
Specimen type genomic DNA

Related Diseases:

Polycystic kidney disease 2
PKD2

References:

1.

NCBI article

NCBI 5311 external link
2.

OMIM.ORG article

Omim 173910 external link
3.

Orphanet article

Orphanet ID 117849 external link
4.

Wikipedia article

Wikipedia EN (Polycystin_2) external link
Update: Aug. 14, 2020
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