Gene: JPH2

Alternate names for this Gene: CMH17|JP-2|JP2

Gene Summary: Junctional complexes between the plasma membrane and endoplasmic/sarcoplasmic reticulum are a common feature of all excitable cell types and mediate cross talk between cell surface and intracellular ion channels. The protein encoded by this gene is a component of junctional complexes and is composed of a C-terminal hydrophobic segment spanning the endoplasmic/sarcoplasmic reticulum membrane and a remaining cytoplasmic domain that shows specific affinity for the plasma membrane. This gene is a member of the junctophilin gene family. Alternative splicing has been observed at this locus and two variants encoding distinct isoforms are described.

Gene is located in Chromosome: 20

Location in Chromosome : 20q13.12

Description of this Gene: junctophilin 2

Type of Gene: protein-coding

rs387906897 in JPH2 gene and CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 17 PMID 17509612 2007 Mutations in JPH2-encoded junctophilin-2 associated with hypertrophic cardiomyopathy in humans.

PMID 24001019 2013 Human junctophilin-2 undergoes a structural rearrangement upon binding PtdIns(3,4,5)P3 and the S101R mutation identified in hypertrophic cardiomyopathy obviates this response.

PMID 30235249 2018 Heterozygous junctophilin-2 (JPH2) p.(Thr161Lys) is a monogenic cause for HCM with heart failure.

PMID 28393127 2017 Novel junctophilin-2 mutation A405S is associated with basal septal hypertrophy and diastolic dysfunction.

rs6031431 in JPH2 gene and Cardiovascular Diseases PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs2235808 in JPH2 gene and Creatinine measurement, serum (procedure) PMID 26831199 2016 Genetic associations at 53 loci highlight cell types and biological pathways relevant for kidney function.

rs6031431 in JPH2 gene and Diastolic blood pressure PMID 30487518 2018 Interethnic analyses of blood pressure loci in populations of East Asian and European descent.

rs2235808 in JPH2 gene and Glomerular Filtration Rate PMID 26831199 2016 Genetic associations at 53 loci highlight cell types and biological pathways relevant for kidney function.

rs6031431 in JPH2 gene and Mean blood pressure PMID 29403010 2018 Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases.

PMID 30487518 2018 Interethnic analyses of blood pressure loci in populations of East Asian and European descent.

rs6017281 in JPH2 gene and Systolic Pressure PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

PMID 30578418 2019 Trans-ethnic association study of blood pressure determinants in over 750,000 individuals.

PMID 29403010 2018 Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases.

PMID 30487518 2018 Interethnic analyses of blood pressure loci in populations of East Asian and European descent.

PMID 27841878 2017 Genome-wide association analyses using electronic health records identify new loci influencing blood pressure variation.

rs6103666 in JPH2 gene and Vital capacity PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.