Official Symbol

SMARCA2provided by HGNC

Official Full Name

SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2provided by HGNC

Primary source

HGNC:11098

See related

Ensembl:ENSG00000080503; HPRD:02483; MIM:600014

Gene type

protein coding

RefSeq status

REVIEWED

Organism

Homo sapiens

Lineage

Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo

Also known as

BRM; SNF2; SWI2; hBRM; Sth1p; BAF190; SNF2L2; SNF2LA; hSNF2a; FLJ36757; MGC74511; SMARCA2

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. Two transcript variants encoding different isoforms have been found for this gene, which contains a trinucleotide repeat (CAG) length polymorphism. [provided by RefSeq]

Go to reference sequence detailsTry our new Sequence Viewer

chromosome: 9; Location: 9p22.3See SMARCA2 in MapViewer

Related Articles in PubMed

GeneRIFs: Gene References Into FunctionWhat's a GeneRIF?

	1.	Cdx2 regulates intestinal villin expression through recruiting Brm-type SWI/SNF complex to the villin promoter.
	2.	BRM and BRG1 SWI/SNF complexes have roles in differentiation
	3.	Hotspot mutation of Brahma in non-melanoma skin cancer.
	4.	Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
	5.	at the TERT gene locus in human tumour cells containing a functional SWI/SNF complex, Brm, and possibly BRG1, in concert with p54(nrb), would initiate efficient transcription and could be involved in the subsequent splicing of TERT transcripts
	6.	Observational study of gene-disease association. (HuGE Navigator)
	7.	p53 activity is differentially regulated by Brm- and Brg1-containing SWI/SNF chromatin remodeling complexes
	8.	C/EBPbeta and GATAs may developmentally regulate the expression of brm by mutually exclusive binding.
	9.	Brm is required for villin expression, a definitive marker of intestinal metaplasia and differentiation
	10.	Loss of BRM through epigenetic silencing is associated with neoplasms
	11.	Brm-containing SWI/SNF complex subfamily (trithorax-G) and a complex including YY1 and HDACs (Polycomb-G) counteract each other to maintain transcription of exogenously introduced genes
	12.	Cell culture in the presence of HDAC inhibitors facilitates the isolation of clones overexpressing Brm.
	13.	This report provides supportive evidence that BRG1 and BRM act as tumor suppressor proteins and implicates a role for their loss in the development of non-small cell lung cancers.
	14.	BRM and BRG1 participate in two distinct chromosome remodeling complexes that are functionally complementary in non-small cell lung cancer
	15.	Brm could also drive expression of CD44; Brm can compensate for BRG-1 loss as pertains to RB sensitivity
	16.	on genes regulated by SWI/SNF, Brm contributes to the crosstalk between transcription and RNA processing by decreasing RNAPII elongation rate and facilitating recruitment of the splicing machinery to variant exons with suboptimal splice sites
	17.	family-based and case-control association study suggest that there is no association between the trinucleotide repeat polymorphism within SMARCA2 and schizophrenia
	18.	Aberrant expression of BRM genes is associated with disease development and progression in prostate cancers.
	19.	BRG1 and BRM complexes may direct distinct cellular processes by recruitment to specific promoters through protein-protein interactions that are unique to each ATPase.
	20.	human adrenal carcinoma cells can spontaneously transition between two subtypes by switching expression of BRG1 and Brm at the post-transcriptional level

Go to the HIV-1, Human Protein Interaction Database

Markers

Pathways

Homology

GeneOntology Provided by GOA

Preferred Names

SWI/SNF-related matrix-associated actin-dependent regulator of chromatin a2

Names

SWI/SNF-related matrix-associated actin-dependent regulator of chromatin a2

SNF2-alpha

SNF2-like 2

OTTHUMP00000020970

OTTHUMP00000020971

SNF2/SWI2-like protein 2

sucrose nonfermenting 2-like protein 2

global transcription activator homologous sequence

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

1. NM_003070.3→NP_003061.3 SWI/SNF-related matrix-associated actin-dependent regulator of chromatin a2 isoform a

   Description

   Transcript Variant: This variant (1) encodes the longer isoform (a).

   Source sequence(s)

   AK094076,AL558829,BC040029,BC066596,BC068252,X72889

   Consensus CDS

   CCDS34977.1

   UniProtKB/Swiss-Prot

   P51531

   UniProtKB/TrEMBL

   Q56A76

   Conserved Domains (7) summary

   cd00046
   Location:744–883
   Blast Score:225

   DEXDc; DEAD-like helicases superfamily. A diverse family of proteins involved in ATP-dependent RNA or DNA unwinding. This domain contains the ATP-binding region.

   cd00079
   Location:1040–1172
   Blast Score:244

   HELICc; Helicase superfamily c-terminal domain; associated with DEXDc-, DEAD-, and DEAH-box proteins, yeast initiation factor 4A, Ski2p, and Hepatitis C virus NS3 helicases; this domain is found in a wide variety of helicases and helicase related proteins; may...

   cd05516
   Location:1382–1506
   Blast Score:474

   Bromo_SNF2L2; Bromodomain, SNF2L2-like subfamily, specific to animals. SNF2L2 (SNF2-alpha) or SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A member 2 is a global transcriptional activator, which cooperates with nuclear hormone...

   pfam00176
   Location:727–1012
   Blast Score:891

   SNF2_N; SNF2 family N-terminal domain

   pfam08880
   Location:172–208
   Blast Score:157

   QLQ; QLQ

   cl02676
   Location:451–508
   Blast Score:181

   HSA; HSA

   cl02688
   Location:588–632
   Blast Score:173

   BRK; BRK domain

2. NM_139045.2→NP_620614.2 SWI/SNF-related matrix-associated actin-dependent regulator of chromatin a2 isoform b

   Description

   Transcript Variant: This variant (2) lacks an alternate in-frame exon in the coding region, compared to variant 1, resulting in a shorter protein (isoform 2).

   Source sequence(s)

   AK094076,BC040029,BC066596,BC068252,X72889

   Consensus CDS

   CCDS34978.1

   UniProtKB/TrEMBL

   Q56A76

   Conserved Domains (7) summary

   cd00046
   Location:744–883
   Blast Score:224

   DEXDc; DEAD-like helicases superfamily. A diverse family of proteins involved in ATP-dependent RNA or DNA unwinding. This domain contains the ATP-binding region.

   cd00079
   Location:1040–1172
   Blast Score:244

   HELICc; Helicase superfamily c-terminal domain; associated with DEXDc-, DEAD-, and DEAH-box proteins, yeast initiation factor 4A, Ski2p, and Hepatitis C virus NS3 helicases; this domain is found in a wide variety of helicases and helicase related proteins; may...

   cd05516
   Location:1382–1488
   Blast Score:502

   Bromo_SNF2L2; Bromodomain, SNF2L2-like subfamily, specific to animals. SNF2L2 (SNF2-alpha) or SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A member 2 is a global transcriptional activator, which cooperates with nuclear hormone...

   pfam00176
   Location:727–1012
   Blast Score:890

   SNF2_N; SNF2 family N-terminal domain

   pfam08880
   Location:172–208
   Blast Score:156

   QLQ; QLQ

   cl02676
   Location:451–508
   Blast Score:180

   HSA; HSA

   cl02688
   Location:588–632
   Blast Score:173

   BRK; BRK domain

RefSeqs of Annotated Genomes: Build 37.1

The following sections contain reference sequences that belong to a specific genome build. Explain

This section includes genomic Reference Sequences (RefSeqs) from all assemblies on which this gene is annotated, such as RefSeqs for chromosomes and scaffolds (contigs) from both reference and alternate assemblies. Model RNAs and proteins are also reported here.

Genome Reference Consortium Human Build 37 (GRCh37), Primary_Assembly

Genomic

1. NC_000009.11 Genome Reference Consortium Human Build 37 (GRCh37), Primary_Assembly

   Range

   2015342..2193624

   Download

   GenBank  FASTA Sequence Viewer (Graphics)

2. NT_008413.18

   Range

   2005342..2183624

   Download

   GenBank  FASTA Sequence Viewer (Graphics)

Alternate assembly (Celera)

Genomic

1. AC_000052.1 Alternate assembly (Celera)

   Range

   1933296..2111552

   Download

   GenBank  FASTA Sequence Viewer (Graphics)

2. NW_924062.1

   Range

   1817815..1996071

   Download

   GenBank  FASTA Sequence Viewer (Graphics)

Alternate assembly (HuRef)

Genomic

1. AC_000141.1 Alternate assembly (HuRef)

   Range

   2147485..1969241, complement

   Download

   GenBank  FASTA Sequence Viewer (Graphics)

2. NW_001839149.2

   Range

   33898981..33720737, complement

   Download

   GenBank  FASTA Sequence Viewer (Graphics)

• MIM 600014
• PharmGKB PA35948
• HPRD 02483
• UCSC UCSC
• PROSITE:Bromodomain PROSITE:Bromodomain
• UniGene Hs.298990