Basic Information

Symbol
SMARCA4
RNA class
mRNA
Alias
SWI/SNF Related BAF Chromatin Remodeling Complex Subunit ATPase 4 BRG1 Mitotic Growth And Transcription Activator SNF2-BETA HSNF2b BAF190 SNF2LB SNF2L4 SNF2 SWI2 SWI/SNF Related, Matrix Associated, Actin Dependent Regulator Of Chromatin, Subfamily A, Member 4 SWI/SNF-Related Matrix-Associated Actin-Dependent Regulator Of Chromatin Subfamily A Member 4 Global Transcription Activator Homologous Sequence ATP-Dependent Helicase SMARCA4 Sucrose Nonfermenting-Like 4 Transcription Activator BRG1 BRG1-Associated Factor 190A Protein Brahma Homolog 1 BRM/SWI2-Related Gene 1 Homeotic Gene Regulator Brahma Protein-Like 1 Nuclear Protein GRB1 Protein BRG-1 SNF2-Like 4 FLJ39786 BAF190A EC 3.6.4.- SNF2-Beta EC 3.6.1 OTSC12 MRD16 RTPS2 SNF2B CSS4
Location (GRCh38)
19:10960824-11079426
UCSC Genome Browser Search in Marker Scope
Forensic tag(s)
Other applications
External database
HGNC NCBI Ensembl OMIM UniProt GTEx

MANE select

Transcript ID
NM_003072.5
Sequence length
5577.0 nt
GC content
0.6057

Transcripts

ID Sequence Length GC content
NM_001128844.3 NCBI
GGGCGCGCGCGCGAGGCUUCCCCUCGUUUGGCGGCGGCGGCGGCUUCUU… 5653 nt 0.6057
NM_001128845.2 NCBI
GAGGCCACUGUCUGCAGCUCCCGUGAAGAUGUCCACUCCAGACCCACCC… 5339 nt 0.6001
NM_001128846.2 NCBI
GAGGCCACUGUCUGCAGCUCCCGUGAAGAUGUCCACUCCAGACCCACCC… 5336 nt 0.6001
NM_001128847.4 NCBI
GGGCGCGCGCGCGAGGCUUCCCCUCGUUUGGCGGCGGCGGCGGCUUCUU… 5478 nt 0.6044
NM_001128848.2 NCBI
GAGGCCACUGUCUGCAGCUCCCGUGAAGAUGUCCACUCCAGACCCACCC… 5327 nt 0.6002
NM_001128849.3 NCBI
GGGCGCGCGCGCGAGGCUUCCCCUCGUUUGGCGGCGGCGGCGGCUUCUU… 5673 nt 0.6039
NM_001374457.1 NCBI
GGGCGCGCGCGCGAGGCUUCCCCUCGUUUGGCGGCGGCGGCGGCUUCUU… 5475 nt 0.6044
NM_001387283.1 NCBI
GGGCGCGCGCGCGAGGCUUCCCCUCGUUUGGCGGCGGCGGCGGCUUCUU… 5670 nt 0.6039
NM_001411150.1 NCBI
GGGCGCGCGCGCGAGGCUUCCCCUCGUUUGGCGGCGGCGGCGGCUUCUU… 5571 nt 0.6026
NM_003072.5 NCBI
GGGCGCGCGCGCGAGGCUUCCCCUCGUUUGGCGGCGGCGGCGGCUUCUU… 5577 nt 0.6057
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. [provided by RefSeq, May 2012] CIViC Summary for SMARCA4 Gene

Forensic Context

A study in mice demonstrated that the SMARCA4 (also known as Dlx6os1) is an ultraconserved enhancer lncRNA that organizes megabase distant genes in the developing forebrain [Mattick et al. DOI:10.1038/s41580-022-00566-8]. Experimental evidence from mouse neural progenitor cells shows that depletion of the SMARCA4 specifically affects the number of Tuj1-positive cells in a subventricular zone neural progenitor differentiation assay, indicating its role in neural cell fate control [Flynn and Chang DOI:10.1016/j.stem.2014.05.014].