Gene: MKLN1

Alternate names for this Gene: TWA2

Gene Summary: Muskelin is an intracellular protein that acts as a mediator of cell spreading and cytoskeletal responses to the extracellular matrix component thrombospondin I (MIM 188060) (Adams et al., 1998 [PubMed 9724633]).[supplied by OMIM, Mar 2008].

Gene is located in Chromosome: 7

Location in Chromosome : 7q32.3

Description of this Gene: muskelin 1

Type of Gene: protein-coding

rs114034759 in MKLN1 gene and Bipolar Disorder PMID 27769005 2017 A genome wide association study suggests the association of muskelin with early onset bipolar disorder: Implications for a GABAergic epileptogenic neurogenesis model.

rs10954312 in MKLN1 gene and Body Height PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs11514963 in MKLN1 gene and Carcinoma of lung PMID 28604730 2017 Large-scale association analysis identifies new lung cancer susceptibility loci and heterogeneity in genetic susceptibility across histological subtypes.

rs2129561 in MKLN1 gene and Electrocardiogram: P-R interval PMID 30046033 2018 PR interval genome-wide association meta-analysis identifies 50 loci associated with atrial and atrioventricular electrical activity.

rs117911989 in MKLN1 gene and Fasting blood glucose measurement PMID 30327367 2019 Genome-Wide Meta-analysis of Gene-Environmental Interaction for Insulin Resistance Phenotypes and Breast Cancer Risk in Postmenopausal Women.

rs117911989 in MKLN1 gene and Physical Activity Measurement PMID 30327367 2019 Genome-Wide Meta-analysis of Gene-Environmental Interaction for Insulin Resistance Phenotypes and Breast Cancer Risk in Postmenopausal Women.

rs138186803 in MKLN1 gene and RESTING HEART RATE PMID 27798624 2016 Identification of genomic loci associated with resting heart rate and shared genetic predictors with all-cause mortality.

rs13238550 in MKLN1 gene and Systolic Pressure PMID 28135244 2017 Genome-wide association analysis identifies novel blood pressure loci and offers biological insights into cardiovascular risk.

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