Gene: SMARCA2

Alternate names for this Gene: BAF190|BRM|NCBRS|SNF2|SNF2L2|SNF2LA|SWI2|Sth1p|hBRM|hSNF2a

Gene Summary: The protein encoded by this gene is a member of the SWI/SNF family of proteins and is highly 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. Alternatively spliced transcript variants encoding different isoforms have been found for this gene, which contains a trinucleotide repeat (CAG) length polymorphism.

Gene is located in Chromosome: 9

Location in Chromosome : 9p24.3

Description of this Gene: SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2

Type of Gene: protein-coding

rs1554629007 in SMARCA2 gene and Dysmorphic features PMID 25169058 2014 Phenotype and genotype in Nicolaides-Baraitser syndrome.

PMID 8287185 1993 An unusual syndrome with mental retardation and sparse hair.

PMID 25249037 2015 Coffin-Siris and Nicolaides-Baraitser syndromes are a common well recognizable cause of intellectual disability.

PMID 22366787 2012 Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome.

PMID 19606471 2009 Nicolaides-Baraitser syndrome: Delineation of the phenotype.

PMID 14564210 2003 Nicolaides-Baraitser syndrome: confirmatory report of a syndrome with sparse hair, mental retardation, and short stature and metacarpals.

rs1554629007 in SMARCA2 gene and Movement Disorders PMID 25169058 2014 Phenotype and genotype in Nicolaides-Baraitser syndrome.

PMID 25249037 2015 Coffin-Siris and Nicolaides-Baraitser syndromes are a common well recognizable cause of intellectual disability.

PMID 19606471 2009 Nicolaides-Baraitser syndrome: Delineation of the phenotype.

PMID 8287185 1993 An unusual syndrome with mental retardation and sparse hair.

PMID 14564210 2003 Nicolaides-Baraitser syndrome: confirmatory report of a syndrome with sparse hair, mental retardation, and short stature and metacarpals.

PMID 22366787 2012 Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome.

rs1471482709 in SMARCA2 gene and Nicolaides Baraitser syndrome PMID 23906836 2013 A comprehensive molecular study on Coffin-Siris and Nicolaides-Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling.

PMID 22366787 2012 Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome.

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

PMID 27665729 2017 New SMARCA2 mutation in a patient with Nicolaides-Baraitser syndrome and myoclonic astatic epilepsy.

rs10511434 in SMARCA2 gene and RDW - Red blood cell distribution width result PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs10511434 in SMARCA2 gene and Red cell distribution width determination PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.