PDZ Domain-Containing 2

Alternative Names

  • PDZD2
  • Plakophilin-Related Armadillo Repeat Protein-Interacting PDZ Protein
  • APIN
  • PIN1
  • Activated in Prostate Cancer
  • AIPC
  • KIAA0300
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OMIM Number

610697

Gene Map Locus
5p13.3

Description

The PDZD2 gene encodes a protein that contains six PDZ domains.  However, proteolytic cleavage mediated by caspase results in a secreted peptide containing only two of these PDZ domains.  While the function of PDZD2 is still not fully understood, it is known that PDZ domains frequently bind to the C-termini of transmembrane receptors or ion channels.  Hence, it is speculated that the protein could be involved in intracellular signaling.

The gene is found to be upregulated in primary prostate tumors and evidence strongly suggests that accumulation of the protein may be associated with the initiation of prostate tumorigenesis.  Recent studies have also shown a possible link between the gene and other cancers, particularly with gastric and renal cell carcinoma.

Molecular Genetics

The PDZD2 gene, located on the short arm of chromosome 5, is approximately 471 kb long with a coding sequence consisting of 30 exons.  The gene is found to be overexpressed in the plasma, frontal cortex, placenta and heart.  Alternative splicing of the gene results in transcripts that encode two different isoforms of the protein.  Isoform 1 of the PDZD2 protein is made up of 2839 amino acids and is about 301 kDa in size.  Isoform 2 of protein, which is only 280 kDa in size, is found to be expressed in the prostate.   

Epidemiology in the Arab World

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Other Reports

Saudi Arabia

Wakil et al. (2016) performed a genome wide association study on 2668 Saudi patients with Coronary Artery Disease (CAD) and/or Myocardial Infarction (MI) and 3000 controls to identify gene loci linked to these conditions.  To identify an association as being statistically significant or suggestive, p values had to be less than 5x10-8 or 1x10-5 respectively.  The PDZD2 gene carried a SNP rs32793_G that showed a suggestive association with MI [6.13E-06, OR=1.25(1.14-1.37)].  As the function of this gene is yet to be fully understood, its role in cardiovascular disease is as yet unknown.

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