Gene: MYPN

Alternate names for this Gene: CMD1DD|CMH22|MYOP|NEM11|RCM4

Gene Summary: Striated muscle in vertebrates comprises large proteins which must be organized properly to contract efficiently. Z-lines in striated muscle are a sign of this organization, representing the ends of actin thin filaments, titin, nebulin or nebulette and accessory proteins required for structure and function. This gene encodes a protein which interacts with nebulin in skeletal muscle or nebulette in cardiac muscle and alpha-actinin. In addition, this gene product can interact with a protein with the I-band indicating it has a regulatory as well as structural function. Alternative splicing results in multiple transcript variants.

Gene is located in Chromosome: 10

Location in Chromosome : 10q21.3

Description of this Gene: myopalladin

Type of Gene: protein-coding

rs10997979 in MYPN gene and Body Height PMID 25282103 2014 Defining the role of common variation in the genomic and biological architecture of adult human height.

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

rs140148105 in MYPN gene and CARDIOMYOPATHY, DILATED, 1KK PMID 22286171 2012 Molecular basis for clinical heterogeneity in inherited cardiomyopathies due to myopalladin mutations.

PMID 22892539 2013 Novel mutations in the sarcomeric protein myopalladin in patients with dilated cardiomyopathy.

PMID 18006477 2008 Mutations in the Z-band protein myopalladin gene and idiopathic dilated cardiomyopathy.

rs10998022 in MYPN gene and Cholecystolithiasis PMID 17632509 2007 A genome-wide association scan identifies the hepatic cholesterol transporter ABCG8 as a susceptibility factor for human gallstone disease.

rs10998022 in MYPN gene and Cholelithiasis PMID 17632509 2007 A genome-wide association scan identifies the hepatic cholesterol transporter ABCG8 as a susceptibility factor for human gallstone disease.

rs10997975 in MYPN gene and Creatine kinase measurement PMID 29403010 2018 Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases.

rs7475348 in MYPN gene and Creatinine measurement, serum (procedure) PMID 29403010 2018 Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases.

rs10998018 in MYPN gene and Forced expiratory volume function PMID 30804560 2019 New genetic signals for lung function highlight pathways and chronic obstructive pulmonary disease associations across multiple ancestries.

rs10823156 in MYPN gene and Glomerular Filtration Rate PMID 31451708 2019 Mapping eGFR loci to the renal transcriptome and phenome in the VA Million Veteran Program.

PMID 31015462 2019 Sex-specific and pleiotropic effects underlying kidney function identified from GWAS meta-analysis.

PMID 31152163 2019 A catalog of genetic loci associated with kidney function from analyses of a million individuals.

PMID 30604766 2019 Trans-ethnic kidney function association study reveals putative causal genes and effects on kidney-specific disease aetiologies.

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

rs6480305 in MYPN gene and Psoriasis PMID 25854761 2015 Whole-exome SNP array identifies 15 new susceptibility loci for psoriasis.

rs10998018 in MYPN gene and Vital capacity PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

PMID 30804560 2019 New genetic signals for lung function highlight pathways and chronic obstructive pulmonary disease associations across multiple ancestries.

PMID 28166213 2017 Genome-wide association analyses for lung function and chronic obstructive pulmonary disease identify new loci and potential druggable targets.

rs10998018 in MYPN gene and peak expiratory flow (procedure) PMID 30804560 2019 New genetic signals for lung function highlight pathways and chronic obstructive pulmonary disease associations across multiple ancestries.