Gene: SMARCA4

Alternate names for this Gene: BAF190|BAF190A|BRG1|CSS4|MRD16|RTPS2|SNF2|SNF2-beta|SNF2L4|SNF2LB|SWI2|hSNF2b

Gene Summary: The protein encoded by this gene is a member of the SWI/SNF family of proteins and is similar to the brahma protein of Drosophila. Members of this family have helicase and ATPase activities and are thought to regulate transcription of certain genes by altering the chromatin structure around those genes. The encoded protein is part of the large ATP-dependent chromatin remodeling complex SNF/SWI, which is required for transcriptional activation of genes normally repressed by chromatin. In addition, this protein can bind BRCA1, as well as regulate the expression of the tumorigenic protein CD44. Mutations in this gene cause rhabdoid tumor predisposition syndrome type 2. Multiple transcript variants encoding different isoforms have been found for this gene.

Gene is located in Chromosome: 19

Location in Chromosome : 19p13.2

Description of this Gene: SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4

Type of Gene: protein-coding

rs189596789 in SMARCA4 gene and Age at menopause PMID 23424626 2013 Genetic variation and reproductive timing: African American women from the Population Architecture using Genomics and Epidemiology (PAGE) Study.

rs143020224 in SMARCA4 gene and Alcohol consumption PMID 30698716 2019 Multiancestry Genome-Wide Association Study of Lipid Levels Incorporating Gene-Alcohol Interactions.

rs78157521 in SMARCA4 gene and Body Height PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs281875226 in SMARCA4 gene and COFFIN-SIRIS SYNDROME 4 PMID 22426308 2012 Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome.

rs1122608 in SMARCA4 gene and CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 1 PMID 23202125 2013 Large-scale association analysis identifies new risk loci for coronary artery disease.

rs200495339 in SMARCA4 gene and Carotid Atherosclerosis PMID 30510157 2018 GWAS and colocalization analyses implicate carotid intima-media thickness and carotid plaque loci in cardiovascular outcomes.

rs1122608 in SMARCA4 gene and Cerebrovascular accident PMID 24262325 2014 Shared genetic susceptibility to ischemic stroke and coronary artery disease: a genome-wide analysis of common variants.

PMID 29531354 2018 Multiancestry genome-wide association study of 520,000 subjects identifies 32 loci associated with stroke and stroke subtypes.

rs1122608 in SMARCA4 gene and Coronary Artery Disease PMID 24262325 2014 Shared genetic susceptibility to ischemic stroke and coronary artery disease: a genome-wide analysis of common variants.

PMID 29212778 2018 Identification of 64 Novel Genetic Loci Provides an Expanded View on the Genetic Architecture of Coronary Artery Disease.

PMID 30104761 2018 Efficiently controlling for case-control imbalance and sample relatedness in large-scale genetic association studies.

PMID 26343387 2015 A comprehensive 1,000 Genomes-based genome-wide association meta-analysis of coronary artery disease.

rs1122608 in SMARCA4 gene and Coronary heart disease PMID 21378990 2011 Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease.

PMID 24262325 2014 Shared genetic susceptibility to ischemic stroke and coronary artery disease: a genome-wide analysis of common variants.

PMID 21347282 2011 Genome-wide association study of coronary heart disease and its risk factors in 8,090 African Americans: the NHLBI CARe Project.

PMID 22319020 2012 A genome-wide association study for coronary artery disease identifies a novel susceptibility locus in the major histocompatibility complex.

rs8103309 in SMARCA4 gene and Ischemic stroke PMID 29531354 2018 Multiancestry genome-wide association study of 520,000 subjects identifies 32 loci associated with stroke and stroke subtypes.

rs55791371 in SMARCA4 gene and Lipids measurement PMID 22286219 2012 Genome-wide association study identifies multiple loci influencing human serum metabolite levels.

rs1122608 in SMARCA4 gene and Low density lipoprotein cholesterol measurement PMID 23202125 2013 Large-scale association analysis identifies new risk loci for coronary artery disease.

PMID 29507422 2018 A large electronic-health-record-based genome-wide study of serum lipids.

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

PMID 25961943 2015 The impact of low-frequency and rare variants on lipid levels.

PMID 21347282 2011 Genome-wide association study of coronary heart disease and its risk factors in 8,090 African Americans: the NHLBI CARe Project.

PMID 30275531 2018 Genetics of blood lipids among ~300,000 multi-ethnic participants of the Million Veteran Program.

PMID 30698716 2019 Multiancestry Genome-Wide Association Study of Lipid Levels Incorporating Gene-Alcohol Interactions.

PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.

rs281875226 in SMARCA4 gene and Multiple congenital anomalies PMID 24658001 2014 Small cell carcinoma of the ovary, hypercalcemic type, displays frequent inactivating germline and somatic mutations in SMARCA4.

PMID 20137775 2010 Germline nonsense mutation and somatic inactivation of SMARCA4/BRG1 in a family with rhabdoid tumor predisposition syndrome.

PMID 23815551 2014 Coffin-Siris syndrome is a SWI/SNF complex disorder.

PMID 22426308 2012 Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome.

PMID 23637025 2013 Clinical correlations of mutations affecting six components of the SWI/SNF complex: detailed description of 21 patients and a review of the literature.

PMID 28608987 2017 SMARCA4 inactivating mutations cause concomitant Coffin-Siris syndrome, microphthalmia and small-cell carcinoma of the ovary hypercalcaemic type.

PMID 23775540 2013 Familial rhabdoid tumour 'avant la lettre'--from pathology review to exome sequencing and back again.

PMID 23929686 2013 Coffin-Siris syndrome and the BAF complex: genotype-phenotype study in 63 patients.

rs1122608 in SMARCA4 gene and Myocardial Infarction PMID 19198609 2009 Genome-wide association of early-onset myocardial infarction with single nucleotide polymorphisms and copy number variants.

PMID 26343387 2015 A comprehensive 1,000 Genomes-based genome-wide association meta-analysis of coronary artery disease.

rs1555771571 in SMARCA4 gene and Neoplastic Syndromes, Hereditary PMID 21566516 2011 Nonsense mutation and inactivation of SMARCA4 (BRG1) in an atypical teratoidrhabdoid tumor showing retained SMARCB1 (INI1) expression.

PMID 24658002 2014 Germline and somatic SMARCA4 mutations characterize small cell carcinoma of the ovary, hypercalcemic type.

rs1060502088 in SMARCA4 gene and Rhabdoid Tumor Predisposition Syndrome 2 PMID 24658002 2014 Germline and somatic SMARCA4 mutations characterize small cell carcinoma of the ovary, hypercalcemic type.

PMID 24658001 2014 Small cell carcinoma of the ovary, hypercalcemic type, displays frequent inactivating germline and somatic mutations in SMARCA4.

rs1122608 in SMARCA4 gene and Serum LDL cholesterol measurement PMID 23202125 2013 Large-scale association analysis identifies new risk loci for coronary artery disease.

PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.

rs10423733 in SMARCA4 gene and Serum albumin measurement PMID 22286219 2012 Genome-wide association study identifies multiple loci influencing human serum metabolite levels.

rs1122608 in SMARCA4 gene and Serum total cholesterol measurement PMID 23202125 2013 Large-scale association analysis identifies new risk loci for coronary artery disease.

PMID 29507422 2018 A large electronic-health-record-based genome-wide study of serum lipids.

PMID 25961943 2015 The impact of low-frequency and rare variants on lipid levels.

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

PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.