Gene: PDLIM5

Alternate names for this Gene: ENH|ENH1|L9|LIM

Gene Summary: This gene encodes a member of a family of proteins that possess a 100-amino acid PDZ domain at the N terminus and one to three LIM domains at the C-terminus. This family member functions as a scaffold protein that tethers protein kinases to the Z-disk in striated muscles. It is thought to function in cardiomyocyte expansion and in restraining postsynaptic growth of excitatory synapses. Alternative splicing of this gene results in multiple transcript variants.

Gene is located in Chromosome: 4

Location in Chromosome : 4q22.3

Description of this Gene: PDZ and LIM domain 5

Type of Gene: protein-coding

rs2452600 in PDLIM5 gene and Coronary Artery Disease PMID 29212778 2018 Identification of 64 Novel Genetic Loci Provides an Expanded View on the Genetic Architecture of Coronary Artery Disease.

rs12500426 in PDLIM5 gene and Malignant neoplasm of prostate PMID 19767753 2009 Identification of seven new prostate cancer susceptibility loci through a genome-wide association study.

rs12500426 in PDLIM5 gene and Nasopharyngeal carcinoma PMID 20512145 2010 A genome-wide association study of nasopharyngeal carcinoma identifies three new susceptibility loci.

rs11731606 in PDLIM5 gene and Platelet mean volume determination (procedure) PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs4699299 in PDLIM5 gene and Plexiform leiomyoma PMID 31649266 2019 Genome-wide association and epidemiological analyses reveal common genetic origins between uterine leiomyomata and endometriosis.

rs200495769 in PDLIM5 gene and Precursor Cell Lymphoblastic Leukemia Lymphoma PMID 27114598 2016 Clinical and Genetic Risk Factors for Acute Pancreatitis in Patients With Acute Lymphoblastic Leukemia.

rs12500426 in PDLIM5 gene and Prostate carcinoma PMID 19767753 2009 Identification of seven new prostate cancer susceptibility loci through a genome-wide association study.

PMID 29892016 2018 Association analyses of more than 140,000 men identify 63 new prostate cancer susceptibility loci.

rs4699299 in PDLIM5 gene and Uterine Fibroids PMID 31649266 2019 Genome-wide association and epidemiological analyses reveal common genetic origins between uterine leiomyomata and endometriosis.