Gene: PDZD2

Alternate names for this Gene: AIPC|PAPIN|PDZK3|PIN1

Gene Summary: The protein encoded by this gene contains six PDZ domains and shares sequence similarity with pro-interleukin-16 (pro-IL-16). Like pro-IL-16, the encoded protein localizes to the endoplasmic reticulum and is thought to be cleaved by a caspase to produce a secreted peptide containing two PDZ domains. In addition, this gene is upregulated in primary prostate tumors and may be involved in the early stages of prostate tumorigenesis.

Gene is located in Chromosome: 5

Location in Chromosome : 5p13.3

Description of this Gene: PDZ domain containing 2

Type of Gene: protein-coding

rs6878827 in PDZD2 gene and Adolescent idiopathic scoliosis PMID 30019117 2018 The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease.

rs7711650 in PDZD2 gene and Body Height PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs439399 in PDZD2 gene and Childhood asthma PMID 30373671 2018 Childhood asthma is associated with COPD and known asthma variants in COPDGene: a genome-wide association study.

rs7709630 in PDZD2 gene and Chronic Obstructive Airway Disease PMID 29394082 2018 A novel locus for FEV<sub>1</sub> identified among ever smokers (rs291231; P = 1.92 × 10<sup>-8</sup>) approached statistical significance for replication in admixed populations of African ancestry, and a novel SNP for COPD in PDZD2 (rs7709630; P = 1.56 × 10<sup>-8</sup>) regionally replicated.

rs10067626 in PDZD2 gene and Leukemia, Myelocytic, Acute PMID 27903959 2017 Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia.

rs2059865 in PDZD2 gene and Major Depressive Disorder PMID 24528284 2014 Citalopram and escitalopram plasma drug and metabolite concentrations: genome-wide associations.

rs32793 in PDZD2 gene and Myocardial Infarction PMID 26708285 2016 Several SNPs, including the rs7421388 (PLCL1) and rs12541758 (TRPA1) displaying a suggestive GWAS association (P < 1 × 10(-5)) with CAD as well as rs41411047 (RNF13), rs32793 (PDZD2) and rs4739066 (YTHDF3), similarly showing weak association with MI, were confirmed in an independent dataset.

rs10054504 in PDZD2 gene and Renal Cell Carcinoma PMID 23184150 2013 Common variation at 2q22.3 (ZEB2) influences the risk of renal cancer.

rs6878827 in PDZD2 gene and SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3 PMID 30019117 2018 The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease.

rs2059865 in PDZD2 gene and response to SSRI PMID 24528284 2014 Citalopram and escitalopram plasma drug and metabolite concentrations: genome-wide associations.