Gene: MAP2K5

Alternate names for this Gene: HsT17454|MAPKK5|MEK5|PRKMK5

Gene Summary: The protein encoded by this gene is a dual specificity protein kinase that belongs to the MAP kinase kinase family. This kinase specifically interacts with and activates MAPK7/ERK5. This kinase itself can be phosphorylated and activated by MAP3K3/MEKK3, as well as by atypical protein kinase C isoforms (aPKCs). The signal cascade mediated by this kinase is involved in growth factor stimulated cell proliferation and muscle cell differentiation. Three alternatively spliced transcript variants of this gene encoding distinct isoforms have been described.

Gene is located in Chromosome: 15

Location in Chromosome : 15q23

Description of this Gene: mitogen-activated protein kinase kinase 5

Type of Gene: protein-coding

rs3784710 in MAP2K5 gene and Age at menarche PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

PMID 25231870 2014 Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche.

rs11637027 in MAP2K5 gene and Body mass index PMID 30108127 2018 A Large Multiethnic Genome-Wide Association Study of Adult Body Mass Index Identifies Novel Loci.

PMID 26961502 2016 Variants in the FTO and CDKAL1 loci have recessive effects on risk of obesity and type 2 diabetes, respectively.

PMID 31217584 2019 Genetic analyses of diverse populations improves discovery for complex traits.

PMID 28443625 2017 Genome-wide meta-analysis of 241,258 adults accounting for smoking behaviour identifies novel loci for obesity traits.

PMID 25673413 2015 Genetic studies of body mass index yield new insights for obesity biology.

PMID 28448500 2017 Genome-wide physical activity interactions in adiposity - A meta-analysis of 200,452 adults.

PMID 26426971 2015 The Influence of Age and Sex on Genetic Associations with Adult Body Size and Shape: A Large-Scale Genome-Wide Interaction Study.

PMID 20935630 2010 Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index.

PMID 28552196 2017 Whole-Genome Sequencing Coupled to Imputation Discovers Genetic Signals for Anthropometric Traits.

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

PMID 30239722 2019 Meta-analysis of genome-wide association studies for body fat distribution in 694 649 individuals of European ancestry.

PMID 22344219 2012 Meta-analysis identifies common variants associated with body mass index in east Asians.

PMID 24861553 2014 Meta-analysis of genome-wide association studies in East Asian-ancestry populations identifies four new loci for body mass index.

PMID 28892062 2017 Genome-wide association study identifies 112 new loci for body mass index in the Japanese population.

rs2241423 in MAP2K5 gene and Body mass index procedure PMID 20935630 2010 Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index.

PMID 23001569 2013 Gene-centric meta-analyses of 108 912 individuals confirm known body mass index loci and reveal three novel signals.

PMID 22344219 2012 Meta-analysis identifies common variants associated with body mass index in east Asians.

PMID 24861553 2014 Meta-analysis of genome-wide association studies in East Asian-ancestry populations identifies four new loci for body mass index.

rs2241423 in MAP2K5 gene and Finding of body mass index PMID 23001569 2013 Gene-centric meta-analyses of 108 912 individuals confirm known body mass index loci and reveal three novel signals.

PMID 20935630 2010 Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index.

PMID 22344219 2012 Meta-analysis identifies common variants associated with body mass index in east Asians.

PMID 24861553 2014 Meta-analysis of genome-wide association studies in East Asian-ancestry populations identifies four new loci for body mass index.

rs8028313 in MAP2K5 gene and Obesity PMID 23563607 2013 Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.

rs2241423 in MAP2K5 gene and Physical Activity Measurement PMID 28448500 2017 Genome-wide physical activity interactions in adiposity - A meta-analysis of 200,452 adults.

rs1026732 in MAP2K5 gene and Restless Legs Syndrome PMID 17637780 2007 Genome-wide association study of restless legs syndrome identifies common variants in three genomic regions.

PMID 21779176 2011 Genome-wide association study identifies novel restless legs syndrome susceptibility loci on 2p14 and 16q12.1.

PMID 29029846 2017 Identification of novel risk loci for restless legs syndrome in genome-wide association studies in individuals of European ancestry: a meta-analysis.

rs16951001 in MAP2K5 gene and Smoking PMID 30643258 2019 Genome-wide association analyses of risk tolerance and risky behaviors in over 1 million individuals identify hundreds of loci and shared genetic influences.

PMID 28443625 2017 Genome-wide meta-analysis of 241,258 adults accounting for smoking behaviour identifies novel loci for obesity traits.

rs4776970 in MAP2K5 gene and Waist Circumference PMID 25673412 2015 New genetic loci link adipose and insulin biology to body fat distribution.