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.
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.
NCBI 5311 [^]
Omim 173910 [^]
Orphanet ID 117849 [^]
Wikipedia EN (Polycystin_2) [^]
Update: April 29, 2019