Gene: PRKG1

Alternate names for this Gene: AAT8|PKG|PKG1|PRKG1B|PRKGR1B|cGK|cGK 1|cGK1|cGKI|cGKI-BETA|cGKI-alpha

Gene Summary: Mammals have three different isoforms of cyclic GMP-dependent protein kinase (Ialpha, Ibeta, and II). These PRKG isoforms act as key mediators of the nitric oxide/cGMP signaling pathway and are important components of many signal transduction processes in diverse cell types. This PRKG1 gene on human chromosome 10 encodes the soluble Ialpha and Ibeta isoforms of PRKG by alternative transcript splicing. A separate gene on human chromosome 4, PRKG2, encodes the membrane-bound PRKG isoform II. The PRKG1 proteins play a central role in regulating cardiovascular and neuronal functions in addition to relaxing smooth muscle tone, preventing platelet aggregation, and modulating cell growth. This gene is most strongly expressed in all types of smooth muscle, platelets, cerebellar Purkinje cells, hippocampal neurons, and the lateral amygdala. Isoforms Ialpha and Ibeta have identical cGMP-binding and catalytic domains but differ in their leucine/isoleucine zipper and autoinhibitory sequences and therefore differ in their dimerization substrates and kinase enzyme activity.

Gene is located in Chromosome: 10

Location in Chromosome : 10q11.23-q21.1

Description of this Gene: protein kinase cGMP-dependent 1

Type of Gene: protein-coding

rs397515330 in PRKG1 gene and AORTIC ANEURYSM, FAMILIAL THORACIC 8 PMID 23910461 2013 Recurrent gain-of-function mutation in PRKG1 causes thoracic aortic aneurysms and acute aortic dissections.

PMID 27442293 2016 PRKG1 and genetic diagnosis of early-onset thoracic aortic disease.

PMID 24882528 2014 Canadian Cardiovascular Society position statement on the management of thoracic aortic disease.

rs7922491 in PRKG1 gene and Asthma PMID 21907864 2011 Identification of IL6R and chromosome 11q13.5 as risk loci for asthma.

rs10762524 in PRKG1 gene and Attention deficit hyperactivity disorder PMID 20732627 2010 Case-control genome-wide association study of attention-deficit/hyperactivity disorder.

rs61849823 in PRKG1 gene and Body Height PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

PMID 31562340 2019 Characterizing rare and low-frequency height-associated variants in the Japanese population.

rs10823893 in PRKG1 gene and Body mass index PMID 30239722 2019 Meta-analysis of genome-wide association studies for body fat distribution in 694 649 individuals of European ancestry.

PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs1937680 in PRKG1 gene and Breast Carcinoma PMID 29059683 2017 Association analysis identifies 65 new breast cancer risk loci.

rs61847307 in PRKG1 gene and Child Development Disorders, Pervasive PMID 28540026 2017 Meta-analysis of GWAS of over 16,000 individuals with autism spectrum disorder highlights a novel locus at 10q24.32 and a significant overlap with schizophrenia.

rs7897633 in PRKG1 gene and Interferon Alpha Measurement PMID 25338677 2015 Genetic analysis of the pathogenic molecular sub-phenotype interferon-alpha identifies multiple novel loci involved in systemic lupus erythematosus.

rs7897633 in PRKG1 gene and Lupus Erythematosus, Systemic PMID 25338677 2015 Genetic analysis of the pathogenic molecular sub-phenotype interferon-alpha identifies multiple novel loci involved in systemic lupus erythematosus.

rs12268753 in PRKG1 gene and Memory performance PMID 29274321 2018 Genome-wide association study of Alzheimer's disease endophenotypes at prediagnosis stages.

rs6479874 in PRKG1 gene and Migraine Disorders PMID 23793025 2013 Genome-wide meta-analysis identifies new susceptibility loci for migraine.

rs61847307 in PRKG1 gene and Schizophrenia PMID 30285260 2019 Genome-Wide Association Study Detected Novel Susceptibility Genes for Schizophrenia and Shared Trans-Populations/Diseases Genetic Effect.

PMID 28991256 2017 Genome-wide association analysis identifies 30 new susceptibility loci for schizophrenia.

PMID 28540026 2017 Meta-analysis of GWAS of over 16,000 individuals with autism spectrum disorder highlights a novel locus at 10q24.32 and a significant overlap with schizophrenia.

PMID 26198764 2015 Genome-wide association study of schizophrenia in Ashkenazi Jews.

rs11000060 in PRKG1 gene and Systolic Pressure PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs6479841 in PRKG1 gene and Vital capacity PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs10823860 in PRKG1 gene and mathematical ability PMID 30038396 2018 Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals.