1: SMARCA2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 [ Homo sapiens ]

GeneID: 6595 updated 25-Nov-2009

[Top][Help]Summary

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]

[Top][Help]Genomic regions, transcripts, and products

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[Top][Help]Bibliography

Related Articles in PubMed

GeneRIFs: Gene References Into Function What's a GeneRIF?

PubMed 1. A missense polymorphism (rs2296212)induced a lower nuclear localization of BRM was associated with low SMARCA2 expression in the postmortem prefrontal cortex of schizophrenia patients.
PubMed 2. Loss of heterozygosity at the 9p21-24 region and identification of BRM as a candidate tumor suppressor gene in head and neck squamous cell carcinoma.
PubMed 3. Cdx2 regulates intestinal villin expression through recruiting Brm-type SWI/SNF complex to the villin promoter.
PubMed 4. BRM and BRG1 SWI/SNF complexes have roles in differentiation
PubMed 5. Hotspot mutation of Brahma in non-melanoma skin cancer.
PubMed 6. Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
PubMed 7. 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
PubMed 8. Observational study of gene-disease association. (HuGE Navigator)
PubMed 9. p53 activity is differentially regulated by Brm- and Brg1-containing SWI/SNF chromatin remodeling complexes
PubMed 10. C/EBPbeta and GATAs may developmentally regulate the expression of brm by mutually exclusive binding.
PubMed 11. Brm is required for villin expression, a definitive marker of intestinal metaplasia and differentiation
PubMed 12. Loss of BRM through epigenetic silencing is associated with neoplasms
PubMed 13. 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
PubMed 14. Cell culture in the presence of HDAC inhibitors facilitates the isolation of clones overexpressing Brm.
PubMed 15. 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.
PubMed 16. BRM and BRG1 participate in two distinct chromosome remodeling complexes that are functionally complementary in non-small cell lung cancer
PubMed 17. Brm could also drive expression of CD44; Brm can compensate for BRG-1 loss as pertains to RB sensitivity
PubMed 18. 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
PubMed 19. family-based and case-control association study suggest that there is no association between the trinucleotide repeat polymorphism within SMARCA2 and schizophrenia
PubMed 20. Aberrant expression of BRM genes is associated with disease development and progression in prostate cancers.
PubMed 21. BRG1 and BRM complexes may direct distinct cellular processes by recruitment to specific promoters through protein-protein interactions that are unique to each ATPase.
PubMed 22. human adrenal carcinoma cells can spontaneously transition between two subtypes by switching expression of BRG1 and Brm at the post-transcriptional level

[Top][Help]HIV-1 protein interactions

Protein    Interaction
1. Tat HIV-1 Tat interacts directly with BRM, a DNA-dependent ATPase subunit of the SWI/SNF chromatin-remodeling complex, to activate the HIV-1 LTR, and this interaction is regulated by Tat lysine 50 acetylation PubMed

Go to the HIV-1, Human Protein Interaction Database

[Top][Help]Interactions

Description ..........
  Product Interactant Other Gene Complex Source Pubs          
 
  NP_003061.2   BAF53   ACTL6A      HPRD    PubMed
 
  NP_003061.2   Estrogen receptor, alpha   ESR1      HPRD    PubMed
 
  NP_003061.2   Glucocorticoid receptor   NR3C1      HPRD    PubMed
Prohibitin interacts with Brm.
  NP_003061.2   NP_002625.1   PHB      BIND    PubMed
 
  NP_003061.2   Prohibitin   PHB      HPRD    PubMed
 
  NP_003061.2   NP_000928.1   POLR2A      HPRD    PubMed
 
  NP_003061.2   AAK21314.1   SS18      HPRD    PubMed
 
  NP_003061.3   BAF53   ACTL6A      HPRD    PubMed
 
  NP_003061.3   Actin like 6B   ACTL6B      HPRD    PubMed
 
  NP_003061.3   BAA89210.1   BAZ1B      HPRD    PubMed
 
  NP_003061.3   Estrogen receptor alpha   ESR1      HPRD    PubMed
 
  NP_003061.3   Glucocorticoid receptor   NR3C1      HPRD    PubMed
 
  NP_003061.3   Prohibitin   PHB      HPRD    PubMed
 
  NP_003061.3   NP_000928.1   POLR2A      HPRD    PubMed
 
  NP_003061.3   AAK21314.1   SS18      HPRD    PubMed
 
  SMARCA2   NP_059989.1   ARID1B      HPRD    PubMed
Affinity Capture-Western; Co-fractionation; Co-purification
  BioGRID:112479   BioGRID:106601   ACTL6A      BioGRID    PubMed
Affinity Capture-Western
  BioGRID:112479   BioGRID:119529   ACTL6B      BioGRID    PubMed
Affinity Capture-MS; Co-purification
  BioGRID:112479   BioGRID:113894   ARID1A      BioGRID    PubMed
Affinity Capture-Western; Reconstituted Complex
  BioGRID:112479   BioGRID:121559   ARID1B      BioGRID    PubMed
Affinity Capture-Western
  BioGRID:112479   BioGRID:207995   Actl6a      BioGRID    PubMed
Affinity Capture-Western
  BioGRID:112479   BioGRID:219970   Actl6b      BioGRID    PubMed
Affinity Capture-Western
  BioGRID:112479   BioGRID:107140   BRCA1      BioGRID    PubMed
Affinity Capture-Western
  BioGRID:112479   BioGRID:107338   CCNE1      BioGRID    PubMed
Co-fractionation
  BioGRID:112479   BioGRID:107458   CDK8      BioGRID    PubMed
Affinity Capture-Western; Reconstituted Complex
  BioGRID:112479   BioGRID:107480   CEBPB      BioGRID    PubMed
Two-hybrid
  BioGRID:112479   BioGRID:108403   ESR1      BioGRID    PubMed
Co-purification
  BioGRID:112479   BioGRID:109315   HDAC1      BioGRID    PubMed
Co-purification
  BioGRID:112479   BioGRID:109316   HDAC2      BioGRID    PubMed
MeCP2 interacts with Brm.
     NP_004983.1   MECP2      BIND    PubMed
Affinity Capture-Western; Reconstituted Complex
  BioGRID:112479   BioGRID:110368   MECP2      BioGRID    PubMed
Reconstituted Complex
  BioGRID:112479   BioGRID:110687   MYB      BioGRID    PubMed
Affinity Capture-Western
  BioGRID:112479   BioGRID:111264   PHB      BioGRID    PubMed
Co-fractionation; Co-purification
  BioGRID:112479   BioGRID:111426   POLR2A      BioGRID    PubMed
Co-purification
  BioGRID:112479   BioGRID:111863   RBBP4      BioGRID    PubMed
Co-fractionation
  BioGRID:112479   BioGRID:114166   RUVBL1      BioGRID    PubMed
Co-purification; Reconstituted Complex
  BioGRID:112479   BioGRID:117439   SIN3A      BioGRID    PubMed
Co-purification
  BioGRID:112479   BioGRID:112482   SMARCB1      BioGRID    PubMed
Affinity Capture-MS; Affinity Capture-Western; Co-purification
  BioGRID:112479   BioGRID:112483   SMARCC1      BioGRID    PubMed
Affinity Capture-MS; Affinity Capture-Western; Co-purification
  BioGRID:112479   BioGRID:112485   SMARCC2      BioGRID    PubMed
Co-purification
  BioGRID:112479   BioGRID:112489   SMARCE1      BioGRID    PubMed
Reconstituted Complex; Two-hybrid
  BioGRID:112479   BioGRID:112638   SS18      BioGRID    PubMed
Affinity Capture-Western
  BioGRID:112479   BioGRID:115989   ZMYND11      BioGRID    PubMed

[Top][Help]General gene information

Markers

SHGC-12004(e-PCR)
Links: UniSTS:20739
WI-19184(e-PCR)
Links: UniSTS:42777
PMC303366P11(e-PCR)
Links: UniSTS:272508
D9S2065(e-PCR)
Links: UniSTS:12679
SHGC-148225(e-PCR)
Links: UniSTS:172957
SMARCA2_2377.2(e-PCR)
Links: UniSTS:468140
SHGC-156097(e-PCR)
Links: UniSTS:185271
G17342(e-PCR)
Links: UniSTS:74937
Smarca2(e-PCR), detects polymorphism
Links: UniSTS:516566
D9S143(e-PCR)
Links: UniSTS:147171

Homology

Homologs of the SMARCA2 gene The SMARCA2 gene is conserved in dog, cow, mouse, rat, chicken, zebrafish, S.pombe, S.cerevisiae, K.lactis, E.gossypii, M.grisea, and N.crassa.


Map Viewer (Mouse, Rat)

[Top][Help]General protein information

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

[Top][Help]NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

mRNA and Protein(s)

  1. NM_003070.3NP_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
    UniProtKB/TrEMBL
    Q8N9Q1
    Conserved Domains (7) summary
    cd00046
    Location:744883
    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:10401172
    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:13821506
    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:7271012
    Blast Score: 891
    SNF2_N; SNF2 family N-terminal domain
    pfam08880
    Location:172208
    Blast Score: 157
    QLQ; QLQ
    cl02676
    Location:451508
    Blast Score: 181
    HSA; HSA
    cl02688
    Location:588632
    Blast Score: 173
    BRK; BRK domain
  2. NM_139045.2NP_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/Swiss-Prot
    P51531
    UniProtKB/TrEMBL
    Q56A76
    UniProtKB/TrEMBL
    Q8N9Q1
    Conserved Domains (7) summary
    cd00046
    Location:744883
    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:10401172
    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:13821488
    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:7271012
    Blast Score: 890
    SNF2_N; SNF2 family N-terminal domain
    pfam08880
    Location:172208
    Blast Score: 156
    QLQ; QLQ
    cl02676
    Location:451508
    Blast Score: 180
    HSA; HSA
    cl02688
    Location:588632
    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

Genome Reference Consortium Human Build 37 (GRCh37), Primary_Assembly

Genomic

  1. NC_000009.11

    Range
    2015341..2193623
    Download
    GenBank FASTA Sequence Viewer (Graphics)
  2. NT_008413.18 

    Range
    2005341..2183623
    Download
    GenBank FASTA Sequence Viewer (Graphics)

Alternate assembly (Celera)

Genomic

  1. AC_000052.1

    Range
    1933295..2111551
    Download
    GenBank FASTA Sequence Viewer (Graphics)
  2. NW_924062.1 

    Range
    1817814..1996070
    Download
    GenBank FASTA Sequence Viewer (Graphics)

Alternate assembly (HuRef)

Genomic

  1. AC_000141.1

    Range
    1969240..2147484, complement
    Download
    GenBank FASTA Sequence Viewer (Graphics)
  2. NW_001839149.2 

    Range
    33720736..33898980, complement
    Download
    GenBank FASTA Sequence Viewer (Graphics)

[Top][Help]Related Sequences

  Nucleotide   Protein
  genomic   AL138755.13   CAI14592.1
       CAI14593.1
       CAI14594.1
       CAI14595.1
       CAI14596.1
       CAI14597.1
       CAI14598.1
       CAI14599.1
       CAI14600.1
       CAI14601.1
  genomic   AL359076.16   CAI12965.1
       CAI12966.1
       CAI12967.1
       CAI12968.1
       CAI12969.1
  genomic   CH471071.2   EAW58811.1
       EAW58812.1
       EAW58813.1
       EAW58814.1
       EAW58815.1
  genomic   U92832.1   AAB68685.1
  mRNA   AK094076.1   BAC04280.1
  mRNA   AK296373.1   BAG59047.1
  mRNA   AK298045.1   BAG60343.1
  mRNA   AK299683.1   BAG61590.1
  mRNA   AK300093.1   BAG61895.1
  mRNA   AK308941.1   None
  mRNA   AL558829.3   None
  mRNA   AY293824.1   None
  mRNA   BC040029.1   AAH40029.1
  mRNA   BC068252.1   None
  mRNA   BM921013.1   None
  mRNA   CR591550.1   None
  mRNA   CR595322.1   None
  mRNA   X72889.1   CAA51407.1
  other-genetic   BC156185.1   AAI56186.1
Protein Accession   Links
P51531.2   GenPept   UniProtKB/Swiss-Prot:P51531
Q56A76   GenPept   UniProtKB/TrEMBL:Q56A76
Q6LC24   GenPept   UniProtKB/TrEMBL:Q6LC24
Q8N9Q1   GenPept   UniProtKB/TrEMBL:Q8N9Q1

[Top][Help]Additional Links