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Gene: SMARCA4 (SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4) Homo sapiens
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Symbol: SMARCA4
Name: SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4
Description: 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. [provided by RefSeq, May 2012]
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: ATP-dependent helicase SMARCA4; BAF190; BAF190A; brahma protein-like 1; BRG1; BRG1-associated factor 190A; BRM/SWI2-related gene 1; CSS4; FLJ39786; global transcription activator homologous sequence; homeotic gene regulator; hSNF2b; mitotic growth and transcription activator; MRD16; nuclear protein GRB1; protein brahma homolog 1; protein BRG-1; RTPS2; SNF2; SNF2-beta; SNF2-like 4; SNF2L4; SNF2LB; sucrose nonfermenting-like 4; SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A member 4; SWI2; transcription activator BRG1
Orthologs:
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381910,960,997 - 11,062,468 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh371911,071,598 - 11,172,958 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361910,932,606 - 11,033,953 (+)NCBINCBI36hg18NCBI36
Build 341910,932,605 - 11,033,953NCBI
Celera1910,966,440 - 11,067,798 (+)NCBI
Cytogenetic Map19p13.2NCBI
HuRef1910,649,456 - 10,749,943 (+)NCBIHuRef
CHM1_11911,072,949 - 11,174,225 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model