SWI/SNF-Related, Matrix-Associated, Actin-Dependent Regulator of Chromatin, Subfamily A, Member 4

Alternative Names

  • SMARCA4
  • BRM/SWI2-Related Gene 1
  • BRG1
  • SNF2-Beta

Associated Diseases

Coffin-Siris Syndrome 4
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OMIM Number

603254

NCBI Gene ID

6597

Uniprot ID

P51532

Length

118,602 bases

No. of Exons

40

No. of isoforms

5

Protein Name

Transcription activator BRG1

Molecular Mass

184646 Da

Amino Acid Count

1647

Genomic Location

chr19:10,960,825-11,079,426

Gene Map Locus
19p13.2

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. [From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_001128849.2:c.3506A>GLebanonchr19:11030853Likely PathogenicCoffin-Siris Syndrome 4NG_011556.2:g.74932A>G; NM_001128849.2:c.3506A>G; NP_001122321.1:p.Asp1169Gly
NM_003072.5:c.1098C>GLebanonchr19:10987904Uncertain SignificanceBreast CancerNG_011556.2:g.31983C>G; NM_003072.5:c.1098C>G; NP_003063.2:p.Ile366Met532242119484848
NM_003072.5:c.1289T>CSaudi ArabiaNC_000019.10:g.10991193T>CUncertain SignificanceLikely PathogenicCoffin-Siris Syndrome 4NG_011556.3:g.35262T>C; NM_003072.5:c.1289T>C; NP_003063.2:p.Leu430Pro7465624131769047
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