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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

SMARCA2 Gene

protein-coding   GIFtS: 65
GCID: GC09P002005

SWI/SNF related, matrix associated, actin dependent regulator...


(Previous symbol: SNF2L2)
 Explore 32 diseases affiliated with
SMARCA2 via
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Biological research products
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Aliases
for SMARCA2 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
SWI/SNF Related, Matrix Associated, Actin Dependent Regulator Of Chromatin,
Subfamily A, Member 21 2
     ATP-Dependent Helicase SMARCA22 3
SNF2L21 2 3 5     BRG1-Associated Factor 190B2 3
BRM1 2 3     NCBRS2
HBRM1     Global Transcription Activator Homologous Sequence2
BAF1901 2     Probable Global Transcription Activator SNF2L22
SNF21 2     SNF2/SWI2-Like Protein 22
SNF2LA1 2     Sucrose Nonfermenting 2-Like Protein 22
SWI21 2     SWI/SNF-Related Matrix-Associated Actin-Dependent Regulator Of Chromatin A22
Sth1p1 2     EC 3.6.4.-3
HSNF2a1     SNF2A3
Protein Brahma Homolog2 3     SWI/SNF-Related Matrix-Associated Actin-Dependent Regulator Of Chromatin
Subfamily A Member 23
BAF190B2 3     EC 3.6.18
SNF2-Alpha1     

External Ids:    HGNC: 110981   Entrez Gene: 65952   Ensembl: ENSG000000805037   OMIM: 6000145   UniProtKB: P515313   

Export aliases for SMARCA2 gene to outside databases

Previous GC identifers: GC09P002169 GC09P001996


Summaries
for SMARCA2 gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
Entrez Gene summary for SMARCA2:
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, Jul 2008)

UniProtKB/Swiss-Prot: SMCA2_HUMAN, P51531
Function: Transcriptional coactivator cooperating with nuclear hormone receptors to potentiate transcriptional
activation. Also involved in vitamin D-coupled transcription regulation via its association with the WINAC complex, a
chromatin-remodeling complex recruited by vitamin D receptor (VDR), which is required for the ligand-bound
VDR-mediated transrepression of the CYP27B1 gene. Belongs to the neural progenitors-specific chromatin remodeling
complex (npBAF complex) and the neuron-specific chromatin remodeling complex (nBAF complex). During neural development
a switch from a stem/progenitor to a post-mitotic chromatin remodeling mechanism occurs as neurons exit the cell cycle
and become committed to their adult state. The transition from proliferating neural stem/progenitor cells to
post-mitotic neurons requires a switch in subunit composition of the npBAF and nBAF complexes. As neural progenitors
exit mitosis and differentiate into neurons, npBAF complexes which contain ACTL6A/BAF53A and PHF10/BAF45A, are
exchanged for homologous alternative ACTL6B/BAF53B and DPF1/BAF45B or DPF3/BAF45C subunits in neuron-specific
complexes (nBAF). The npBAF complex is essential for the self-renewal/proliferative capacity of the multipotent neural
stem cells. The nBAF complex along with CREST plays a role regulating the activity of genes essential for dendrite
growth (By similarity)

Gene Wiki entry for SMARCA2


Genomic Views
for SMARCA2 gene

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000009.11  NC_018920.1  NT_008413.18  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the SMARCA2 gene promoter:
         c-Fos   AP-1   c-Jun   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 3): SMARCA2 promoter sequence
   Search SABiosciences Chromatin IP Primers for SMARCA2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SMARCA2


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 9p22.3   Ensembl cytogenetic band:  9p24.3   HGNC cytogenetic band: 9p24.3

SMARCA2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SMARCA2 gene location

GeneLoc information about chromosome 9         GeneLoc Exon Structure

GeneLoc location for GC09P002005:  view genomic region     (about GC identifiers)

Start:
 2,015,342 bp from pter      End:
 2,193,624 bp from pter
Size:
 178,283 bases      Orientation:
 plus strand

Proteins
for SMARCA2 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
UniProtKB/Swiss-Prot: SMCA2_HUMAN, P51531 (See protein sequence)
Recommended Name: Probable global transcription activator SNF2L2  
Size: 1590 amino acids; 181279 Da
Subunit: Component of the BAF complex, which includes at least actin (ACTB), ARID1A, ARID1B/BAF250, SMARCA2,
SMARCA4/BRG1/BAF190A, ACTL6A/BAF53, ACTL6B/BAF53B, SMARCE1/BAF57, SMARCC1/BAF155, SMARCC2/BAF170, SMARCB1/SNF5/INI1,
and one or more of SMARCD1/BAF60A, SMARCD2/BAF60B, or SMARCD3/BAF60C. In muscle cells, the BAF complex also contains
DPF3. Component of the WINAC complex, at least composed of SMARCA2, SMARCA4, SMARCB1, SMARCC1, SMARCC2, SMARCD1,
SMARCE1, ACTL6A, BAZ1B/WSTF, ARID1A, SUPT16H, CHAF1A and TOP2B. Binds TOPBP1. Component of neural progenitors-specific
chromatin remodeling complex (npBAF complex) composed of at least, ARID1A/BAF250A or ARID1B/BAF250B, SMARCD1/BAF60A,
SMARCD3/BAF60C, SMARCA2/BRM/BAF190B, SMARCA4/BRG1/BAF190A, SMARCB1/BAF47, SMARCC1/BAF155, SMARCE1/BAF57,
SMARCC2/BAF170, PHF10/BAF45A, ACTL6A/BAF53A and actin. Component of neuron-specific chromatin remodeling complex (nBAF
complex) composed of at least, ARID1A/BAF250A or ARID1B/BAF250B, SMARCD1/BAF60A, SMARCD3/BAF60C, SMARCA2/BRM/BAF190B,
SMARCA4/BRG1/BAF190A, SMARCB1/BAF47, SMARCC1/BAF155, SMARCE1/BAF57, SMARCC2/BAF170, DPF1/BAF45B, DPF3/BAF45C,
ACTL6B/BAF53B and actin. Interacts with PHF10/BAF45A (By similarity)
Subcellular location: Nucleus
1 PDB 3D structure from and Proteopedia for SMARCA2:
2DAT (3D)    
Secondary accessions: B1ALG3 B1ALG4 D3DRH4 D3DRH5
Alternative splicing: 2 isoforms:  P51531-1   P51531-2   

Explore the universe of human proteins at neXtProt for SMARCA2: NX_P51531

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P51531

    • 4/12 DME Specific Peptides for SMARCA2 (P51531) (see all 12)
     RAHRIGQ  TGTPLQN  LHKVLRP  DSDWNPH 

    SMARCA2 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins (2 alternative transcripts): 
    NP_003061.3  NP_620614.2  

    ENSEMBL proteins: 
     ENSP00000392081   ENSP00000415218   ENSP00000409398   ENSP00000371638   ENSP00000371629  
     ENSP00000401096   ENSP00000305411   ENSP00000413057   ENSP00000371621   ENSP00000387486  
     ENSP00000371620   ENSP00000371618   ENSP00000412242   ENSP00000371617   ENSP00000265773  
     ENSP00000349788   ENSP00000324770  

    Human Recombinant Protein Products: 
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    Uscn Proteins for SMARCA2

    Gene Ontology (GO): 5/10 cellular component terms (GO ID links to tree view) (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000790nuclear chromatin IDA12065415
    GO:0005634nucleus IDA--
    GO:0005654nucleoplasm TAS8670841
    GO:0005730NOT nucleolus IDA--
    GO:0016514SWI/SNF complex IDA11078522


    SMARCA2 for ontologies           About GeneDecksing



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    Protein Domains /
    Families
    for SMARCA2 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    SMARCA2 for domains           About GeneDecksing

    5/10 InterPro domains/families (see all 10):
     IPR006562 HSA
     IPR006576 BRK_domain
     IPR018359 Bromodomain_CS
     IPR013999 HAS_subgr
     IPR001487 Bromodomain

    Graphical View of Domain Structure for InterPro Entry P51531

    ProtoNet protein and cluster: P51531

    4 Blocks protein families:
    IPB000330 SNF2 related domain
    IPB001487 Bromodomain signature
    IPB006562 HSA
    IPB006576 Domain in transcription and CHROMO domain helicase


    UniProtKB/Swiss-Prot: SMCA2_HUMAN, P51531
    Similarity: Belongs to the SNF2/RAD54 helicase family
    Similarity: Contains 1 bromo domain
    Similarity: Contains 1 helicase ATP-binding domain
    Similarity: Contains 1 helicase C-terminal domain
    Similarity: Contains 1 HSA domain
    Similarity: Contains 1 QLQ domain


    Function
    for SMARCA2 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         UniProtKB/Swiss-Prot: SMCA2_HUMAN, P51531
    Function: Transcriptional coactivator cooperating with nuclear hormone receptors to potentiate transcriptional
    activation. Also involved in vitamin D-coupled transcription regulation via its association with the WINAC complex, a
    chromatin-remodeling complex recruited by vitamin D receptor (VDR), which is required for the ligand-bound
    VDR-mediated transrepression of the CYP27B1 gene. Belongs to the neural progenitors-specific chromatin remodeling
    complex (npBAF complex) and the neuron-specific chromatin remodeling complex (nBAF complex). During neural development
    a switch from a stem/progenitor to a post-mitotic chromatin remodeling mechanism occurs as neurons exit the cell cycle
    and become committed to their adult state. The transition from proliferating neural stem/progenitor cells to
    post-mitotic neurons requires a switch in subunit composition of the npBAF and nBAF complexes. As neural progenitors
    exit mitosis and differentiate into neurons, npBAF complexes which contain ACTL6A/BAF53A and PHF10/BAF45A, are
    exchanged for homologous alternative ACTL6B/BAF53B and DPF1/BAF45B or DPF3/BAF45C subunits in neuron-specific
    complexes (nBAF). The npBAF complex is essential for the self-renewal/proliferative capacity of the multipotent neural
    stem cells. The nBAF complex along with CREST plays a role regulating the activity of genes essential for dendrite
    growth (By similarity)

         Genatlas biochemistry entry for SMARCA2:
    general transcriptional activator S cerevisiae SWI/SNF related protein,matrix associated,actin-dependent regulator of
    chromatin,subfamily A,member 2,component of the chromatin remodeling complex,Drosophila ISWI (initiator of SWI)
    homolog

    Enzyme Numbers (IUBMB): EC 3.6.12 EC 3.6.4.-1

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat SMARCA2
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    hsa-miR-21* hsa-miR-4272 hsa-miR-411 hsa-miR-128 hsa-miR-1304 hsa-miR-1243 hsa-miR-3148 hsa-miR-3163
    SwitchGear 3'UTR luciferase reporter plasmid: SMARCA2 3' UTR sequence
    Inhib. RNA
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    Gene Editing
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    Clone
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    In Situ Assay
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    Gene Ontology (GO): 5/8 molecular function terms (GO ID links to tree view) (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001105RNA polymerase II transcription coactivator activity IDA17984088
    GO:0003713transcription coactivator activity TAS8223438
    GO:0004386helicase activity IEA--
    GO:0005515protein binding IPI12065415
    GO:0005524ATP binding IEA--


    SMARCA2 for ontologies           About GeneDecksing


    3 GenomeRNAi human phenotypes for SMARCA2:
     Increased G1 DNA content  Increased cell death HMECs cel  S arrest 

    Animal Models:
         Mouse knock-out Smarca2tm1Mya for SMARCA2
         10 MGI mutant phenotypes (inferred from 1 allele) (MGI details for Smarca2):
     cellular  digestive/alimentary  growth/size  homeostasis/metabolism  integument 
     mortality/aging  muscle  renal/urinary system  reproductive system  skeleton 

    SMARCA2 for phenotypes           About GeneDecksing


    Pathways & Interactions
    for SMARCA2 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways - 5/8 super-pathways (see all 8) About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Development_Ligand-dependent activation of the ESR1/AP-1 pathway
    		Development_Ligand-dependent activation of the ESR1/AP-1 pathway1.00
    		Transcription_Ligand-dependent activation of the ESR1/SP pathway0.37
    		Development Ligand-dependent activation of the ESR1/AP-1 pathway1.00
    		Chromatin Remodeling0.30
    		Transcription Ligand-dependent activation of the ESR1/SP pathway0.37
    2BRCA1 Pathway
    		BRCA1 Pathway1.00
    3AMPK Enzyme Complex Pathway
    		AMPK Enzyme Complex Pathway1.00
    4C-MYB transcription factor network
    		C-MYB transcription factor network1.00
    5Regulation of Androgen receptor activity
    		Regulation of Androgen receptor activity1.00

    Pathway sources
    See GeneCards unified pathways
    Show all pathways

    2 EMD Millipore Pathways for SMARCA2
        Development Ligand-dependent activation of the ESR1/AP-1 pathway
    Transcription Ligand-dependent activation of the ESR1/SP pathway

    4 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for SMARCA2
        AMPK Enzyme Complex Pathway
    BRCA1 Pathway
    Glucocorticoid Receptor Signaling
    Chromatin Remodeling

    1 Cell Signaling Technology (CST) Pathway for SMARCA2
        Chromatin Regulation / Acetylation

    2 GeneGo (Thomson Reuters) Pathways for SMARCA2
        Transcription Ligand-dependent activation of the ESR1/SP pathway
    Development Ligand-dependent activation of the ESR1/AP-1 pathway

    3 BioSystems Pathways for SMARCA2 
        E2F transcription factor network
    Regulation of Androgen receptor activity
    C-MYB transcription factor network



    SMARCA2 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for SMARCA2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/692 Interacting proteins for SMARCA2 (P515311, 2, 3 ENSP000002657734) via UniProtKB, MINT, STRING, and/or I2D (see all 692)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    HIST1H3AP684313, ENSP000003502754I2D: score=1 STRING: ENSP00000350275
    HIST1H3BP684313I2D: score=1 
    HIST1H3CP684313I2D: score=1 
    HIST1H3DP684313I2D: score=1 
    HIST1H3EP684313I2D: score=1 
    About this table

    Gene Ontology (GO): 5/11 biological process terms (GO ID links to tree view) (see all 11):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000122negative regulation of transcription from RNA polymerase II promoter TAS17938176
    GO:0006338chromatin remodeling TAS17938176
    GO:0006355regulation of transcription, DNA-dependent TAS8670841
    GO:0006357regulation of transcription from RNA polymerase II promoter TAS8223438
    GO:0007399nervous system development IEA--


    SMARCA2 for ontologies           About GeneDecksing



    Drugs & Compounds
    for SMARCA2 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    SMARCA2 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for SMARCA2
    1 Novoseek chemical compound relationship for SMARCA2 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    estrogen 0 1 12775722 (1)

    Search CenterWatch for drugs/clinical trials and news about SMARCA2 / SMCA2 

    Transcripts
    for SMARCA2 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
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    About This Section
    REFSEQ mRNAs for SMARCA2 gene (2 alternative transcripts): 
    NM_003070.3  NM_139045.2  

    Unigene Cluster for SMARCA2:

    SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2
    Hs.298990  [show with all ESTs]
    Unigene Representative Sequence: X72889
    18 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000450198 ENST00000457226 ENST00000439732 ENST00000382203 ENST00000382194
    ENST00000491574 ENST00000452193 ENST00000302401(uc011llw.2 uc011llx.2 uc003zhe.3)
    ENST00000423555 ENST00000382186 ENST00000417599 ENST00000382185 ENST00000382183
    ENST00000416751 ENST00000382182 ENST00000349721(uc003zhc.3) ENST00000357248(uc003zhd.3 uc010mha.3 uc010mhb.3)
    ENST00000324954

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    hsa-miR-21* hsa-miR-4272 hsa-miR-411 hsa-miR-128 hsa-miR-1304 hsa-miR-1243 hsa-miR-3148 hsa-miR-3163
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    Inhib. RNA
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    Additional cDNA sequence: 

    AK094076.1 AK296373.1 AK298045.1 AK299683.1 AK300093.1 AK308941.1 AY293824.1 AY295762.1 
    BC040029.1 BC068252.1 X72889.1 

    24/32 DOTS entries (see all 32):

    DT.75153042  DT.97778663  DT.95179426  DT.95111018  DT.100798672  DT.97813912  DT.121144832  DT.91647776 
    DT.97764661  DT.95111023  DT.100038591  DT.121144798  DT.70101659  DT.95139202  DT.91768471  DT.91768472 
    DT.95111028  DT.97823952  DT.100798671  DT.121144768  DT.121144770  DT.121144816  DT.121144908  DT.121144909 

    24/395 AceView cDNA sequences (see all 395):

    AI927960 BX509741 BU146104 N90602 AI952833 H41640 CD675252 BF435093 
    BU935015 W00577 AI833197 BQ006819 BU726100 BU782840 BM477198 NM_139045 
    AA875986 AI743434 AA922187 BF116076 BC040029 BX480137 AA897654 AA243388 

    GeneLoc Exon Structure

    5/33 Alternative Splicing Database (ASD) splice patterns (SP) for SMARCA2 (see all 33)    About this scheme

    ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4a · 4b · 4c ^ 5a · 5b ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11a · 11b · 11c ^ 12 ^ 13a · 13b ^ 14 ^ 15a · 15b ^ 16 ^ 17a ·
    SP1:                                                                                                                                                            
    SP2:                                                                                                                                                            
    SP3:                                                                                                                                                            
    SP4:                                                                                                                                                            
    SP5:                    -     -           -     -     -     -     -     -     -     -     -     -     -     -     -                       -                     

    ExUns: 17b ^ 18 ^ 19 ^ 20a · 20b ^ 21 ^ 22a · 22b · 22c ^ 23 ^ 24a · 24b · 24c ^ 25 ^ 26 ^ 27a · 27b ^ 28 ^ 29 ^ 30a · 30b ^ 31 ^ 32a · 32b · 32c ^ 33 ^
    SP1:                                                                                                                                                            
    SP2:                                                                                                                                                            
    SP3:                                                                                                                                                            
    SP4:                                                              -                                                                                             
    SP5:                                                                                                                                                            

    ExUns: 34a · 34b · 34c · 34d · 34e ^ 35 ^ 36a · 36b ^ 37 ^ 38a · 38b · 38c ^ 39 ^ 40a · 40b · 40c · 40d · 40e ^ 41 ^ 42a · 42b ^ 43 ^ 44a · 44b · 44c
    SP1:                                      -           -                       -                             -                                             
    SP2:                                                                                                        -                                             
    SP3:                                                                                                                                                      
    SP4:                                                                                                                                                      
    SP5:                                                                                                                                                      


    ECgene alternative splicing isoforms for SMARCA2

    Expression
    for SMARCA2 gene

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    SMARCA2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: GTGTAAAAAA

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image
    See SMARCA2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for SMARCA2

    SOURCE GeneReport for Unigene cluster: Hs.298990
        SABiosciences Expression via Pathway-Focused PCR Arrays including SMARCA2: 
              Polycomb & Trithorax Complexes in human mouse rat
              Epigenetic Chromatin Remodeling Factors in human mouse rat

    Primer
    Products:    		 OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for SMARCA2
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    In Situ
    Assay Products:     
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    Orthologs
    for SMARCA2 gene

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section
    This gene was present in the common ancestor of eukaryotes.

    Orthologs for SMARCA2 gene from 9/31 species (see all 31)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    chicken
    (Gallus gallus)    		 Aves SMARCA21 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 less 80.56(n)
    93.04(a)    		   396040  NM_205139.1  NP_990470.1 
    lizard
    (Anolis carolinensis)    		 Reptilia SMARCA26
    		 --
    		 88(a)
    		 1 ↔ 1
    		 2(50844313-50902259)
    tropical clawed frog
    (Xenopus tropicalis)    		 Amphibia Str.104292 Transcribed sequence with moderate similarity to protein pirS45251 (H.sapiens) S45251 SNF2alpha protein - human less 78.83(n)    BX685877.1 
    zebrafish
    (Danio rerio)    		 Actinopterygii wufi27f112 Danio rerio, Similar to SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2, clone IMAGE5605432, mRNA, partial cds less 75.54(n)    BC060676.1 
    fruit fly
    (Drosophila melanogaster)    		 Insecta brm3 positive regulation of transcription by
    homeotic gene (trithorax group) DNA
    dependent adenosinetriphosphatase less    		 60(a)   3 72C1   --
    worm
    (Caenorhabditis elegans)    		 Secernentea C52B9.83 helicase 47(a)   X(4333379-4338468)   --
    baker's yeast
    (Saccharomyces cerevisiae)    		 Saccharomycetes SNF2(YOR290C)4
    STH11    		 Catalytic subunit of the SWI/SNF chromatin remodeling complex involved in transcriptional regulation; contains DNA-stimulated ATPase activity; functions interdependently in transcriptional activation with Snf5p and Snf6p less4
    Sth1p1    		 52.72(n)1
    48.83(a)1    		   15(860258-855147)4
    8546801  NP_012140.11  8544654 
     NP_014933.14 
    thale cress
    (Arabidopsis thaliana)    		 eudicotyledons AT5G193106
    ATCHR126
    (see all 4)    		 Homeotic gene regulator
    (see all 4)    		 39(a)
    38(a)
    (see all 4)    		 many ↔ many
    many ↔ many
    (see all 4)    		 5(6498779-6503432)
    3(1802228-1807478)
    rice
    (Oryza sativa)    		 Liliopsida --
    --
    		 expressed protein
    SNF2 family N-terminal domain containing protein, ...
    		 36(a)
    14(a)
    		 many ↔ many
    many ↔ many
    		 5(2548568-2559147)
    2(748704-759273)


    ENSEMBL Gene Tree for SMARCA2 (if available)
    TreeFam Gene Tree for SMARCA2 (if available) 

    Paralogs
    for SMARCA2 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for SMARCA2 gene
    SMARCA42  
    5 SIMAP similar genes for SMARCA2 using alignment to 13 protein entries:     SMCA2_HUMAN (see all proteins):
    SMARCA4    PBRM1    BTAF1    HELLS    SMARCA1

    SMARCA2 for paralogs           About GeneDecksing



    Genomic Variants
    for SMARCA2 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/3961 NCBI SNPs in SMARCA2 are shown (see all 3961)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 9 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs769167451,2
    		F,--1967261(+) CGACTT/CATTAG 2 -- us2k11Minor allele frequency- C:0.03WA 118
    rs772863051,2
    		C,--1967530(+) AGCTAT/CAGGGT 2 -- us2k12Minor allele frequency- C:0.08WA 120
    rs625348811,2
    		C,--1967834(+) CACTTC/TGAATG 2 -- us2k10--------
    rs733770501,2
    		C,--1967964(+) ATAGGC/TCCCTG 2 -- us2k12Minor allele frequency- T:0.06WA 120
    rs625348821,2
    		C,--1968305(+) GAAGAT/CGGCAG 2 -- us2k12Minor allele frequency- C:0.06NA 122
    rs1119698031,2
    		--1968977(+) AGAGCT/GGTCTA 2 -- us2k12Minor allele frequency- G:0.02CSA WA 120
    rs593747301,2
    		F,--1969392(+) CACGCC/AGCCTT 2 -- int11Minor allele frequency- A:0.05EA 120
    rs777539311,2
    		--1969440(+) ATTGTG/TCATGC 2 -- int11Minor allele frequency- T:0.01NA 120
    rs733770511,2
    		C,--1969716(+) ACACAG/TTGGGC 2 -- int11Minor allele frequency- T:0.50WA 2
    rs789773321,2
    		F,--1969767(+) GGGAGG/CGGGGT 2 -- int11Minor allele frequency- C:0.02WA 118

    HapMap Linkage Disequilibrium report for SMARCA2 (2015342 - 2193624 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 6 variations for SMARCA2
         6 CNVs: 38738 82867 95804 53551 65307 52769
    Human Gene Mutation Database (HGMD): SMARCA2

    SABiosciences Cancer Mutation PCR Assays
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    DNA2.0 Custom Variant and Variant Library Synthesis for SMARCA2

    Disorders / Diseases
    for SMARCA2 gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    SMARCA2 for disorders           About GeneDecksing

    OMIM gene information: 600014    OMIM disorders: --

    UniProtKB/Swiss-Prot: SMCA2_HUMAN, P51531
  • Defects in SMARCA2 are the cause of Nicolaides-Baraitser syndrome (NCBRS) [MIM:601358]. A rare disorder
    • characterized by severe mental retardation with absent or limited speech, seizures, short stature, sparse hair,
    typical facial characteristics, brachydactyly, prominent finger joints and broad distal phalanges. Some of the
    features are progressive with time

    20/32 diseases for SMARCA2 (see all 32):    About MalaCards
    age related macular degeneration    enamel erosion    dental caries    alpha thalassemia
    cylindromatosis    intellectual disability    synovial sarcoma    macular degeneration
    cockayne syndrome    williams syndrome    microphthalmia    retinoblastoma
    thalassemia    skin cancer    prostate cancer    sarcoma
    gingivitis    gastric cancer    lung carcinoma    lung cancer

    5 diseases from the University of Copenhagen DISEASES database for SMARCA2:
    Dental caries     Gingivitis     Alpha thalassemia     Intellectual disability
    Cockayne syndrome

    6 Novoseek disease relationships for SMARCA2 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    retinoblastoma 57.5 9 11279017 (4), 10441072 (1), 11719516 (1), 15240517 (1) (see all 5)
    tumors 14.7 15 17075831 (2), 11719516 (2), 15887247 (2), 16007216 (2) (see all 8)
    adenocarcinoma 13.5 6 15887247 (2), 18006815 (1), 8657132 (1)
    prostate cancer 3.04 8 17075831 (3), 19074882 (2)
    leukemia 0 2 16007216 (1), 11850427 (1)
    cancer 0 4 17075831 (1), 18923443 (1), 14603256 (1)

    Human Genome Epidemiology (HuGE) Navigator: SMARCA2 (5 documents)

    Export disorders for SMARCA2 gene to outside databases

    Publications
    for SMARCA2 gene

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for SMARCA2 gene, integrated from 9 sources (see all 166):
    (articles sorted by number of sources associating them with SMARCA2)    		    Utopia: connect your pdf to the dynamic
    world of online information

    1. A human homologue of Saccharomyces cerevisiae SNF2/SWI2 and Drosophila brm genes potentiates transcriptional activation by the glucocorticoid receptor. (PubMed id 8223438)1, 2, 9 Muchardt C. and Yaniv M. (1993)
    2. Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome. (PubMed id 22366787)1, 2 Van Houdt J.K.... Vermeesch J.R. (2012)
    3. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)1, 2 Olsen J.V....Mann M. (2006)
    4. TopBP1 recruits Brg1/Brm to repress E2F1-induced apoptosis, a novel pRb-independent and E2F1-specific control for cell survival. (PubMed id 15075294)1, 2 Liu K.... Lin W.-C. (2004)
    5. Two human homologues of Saccharomyces cerevisiae SWI2/SNF2 and Drosophila brahma are transcriptional coactivators cooperating with the estrogen receptor and the retinoic acid receptor. (PubMed id 8208605)1, 2 Chiba H.... Kato H. (1994)
    6. Assignment of HBRM, the human homolog of S. cerevisiae SNF2/SWI2 and Drosophila brm genes, to chromosome region 9p23-p24, by in situ hybridization. (PubMed id 8012116)1, 3 Muchardt C....Mattei M.G. (1994)
    7. Frequent loss of Brm expression in gastric cancer correlates with histologic features and differentiation state. (PubMed id 18006815)1, 9 Yamamichi N....Iba H. (2007)
    8. Aberrant expression of SWI/SNF catalytic subunits BRG1/BRM is associated with tumor development and increased invasiveness in prostate cancers. (PubMed id 17075831)1, 9 Sun A....Li B. (2007)
    9. Roles of Brahma and Brahma/SWI2-related gene 1 in hypoxic induction of the erythropoietin gene. (PubMed id 15347669)1, 9 Wang F....Hankinson O. (2004)
    10. SW13 cells can transition between two distinct subtypes by switching expression of BRG1 and Brm genes at the post-transcriptional level. (PubMed id 12493776)1, 9 Yamamichi-Nishina M....Iba H. (2003)

    External Searches for SMARCA2 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  
      Query String
    		PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    Genome Databases showing SMARCA2 gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 6595 HGNC: 11098 AceView: SMARCA2 Ensembl:ENSG00000080503 euGenes: HUgn6595
    ECgene: SMARCA2 H-InvDB: SMARCA2

    Other Databases showing SMARCA2 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing SMARCA2 gene

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for SMARCA2 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for SMARCA2 Genetics and Cytogenetics in Oncology and Haematology

    Intellectual Property
    for SMARCA2 gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		Patent Information for SMARCA2 gene:
    Search GeneIP for patents involving SMARCA2

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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    GeneCards Homepage - Last full update: 19 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013

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