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

SMARCA2 Gene

protein-coding   GIFtS: 68
GCID: GC09P002005

SWI/SNF Related, Matrix Associated, Actin Dependent Regulator...


(Previous symbol: SNF2L2)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
SWI/SNF Related, Matrix Associated, Actin Dependent Regulator Of
Chromatin, Subfamily A, Member 21 2
     SWI22
SNF2L21 2 3 5     Sth1p2
Protein Brahma Homolog2 3     Global Transcription Activator Homologous Sequence2
BAF190B2 3     hSNF2a2
BRM2 3     Probable Global Transcription Activator SNF2L22
SNF2-alpha2 3     SNF2/SWI2-Like Protein 22
ATP-Dependent Helicase SMARCA22 3     Sucrose Nonfermenting 2-Like Protein 22
BRG1-Associated Factor 190B2 3     SWI/SNF-Related Matrix-Associated Actin-Dependent Regulator Of Chromatin
A22
hBRM2 3     EC 3.6.4.-3
BAF1902     SNF2A3
NCBRS2     SWI/SNF-Related Matrix-Associated Actin-Dependent Regulator Of Chromatin
Subfamily A Member 23
SNF22     EC 3.6.18
SNF2LA2     

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


(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 Gene:
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)

GeneCards Summary for SMARCA2 Gene: 
SMARCA2 (SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2) is a protein-coding gene. Diseases associated with SMARCA2 include nicolaides baraitser syndrome, and smarca2-related coffin-siris syndrome, and among its related super-pathways are Development Ligand-dependent activation of the ESR1/AP-1 pathway and PGC1Alpha Pathway. GO annotations related to this gene include transcription coactivator activity and helicase activity. An important paralog of this gene is SMARCA4.

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 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000009.11  NT_008413.18  NC_018920.2  
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

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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 Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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

Explore proteomics data for SMARCA2 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • 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 MOPED1, PaxDb2 and MAXQB3 :    About this image 

    SMARCA2 Protein Expression
    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   ENSP00000265773   ENSP00000349788  
     ENSP00000324770  

    Human Recombinant Protein Products for SMARCA2: 
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    Novus Biologicals SMARCA2 Protein
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. 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



    SMARCA2 Antibody Products: 
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    LSBio Antibodies in human, mouse, rat for SMARCA2 

    Assay Products for SMARCA2: 
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    Cloud-Clone Corp. ELISAs for SMARCA2 
    Cloud-Clone Corp. CLIAs for SMARCA2


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    5/11 InterPro protein domains (see all 11):
     IPR006562 HSA
     IPR006576 BRK_domain
     IPR027417 P-loop_NTPase
     IPR018359 Bromodomain_CS
     IPR013999 HAS_subgr

    Graphical View of Domain Structure for InterPro Entry P51531

    ProtoNet protein and cluster: P51531

    4 Blocks protein domains:
    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


    SMARCA2 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    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, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: 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

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001105RNA polymerase II transcription coactivator activity IDA17984088
    GO:0003676nucleic acid binding ----
    GO:0003677DNA binding ----
    GO:0003713transcription coactivator activity TAS8223438
    GO:0004386helicase activity IEA--
         
    SMARCA2 for ontologies           About GeneDecksing


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

         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

    Animal Models:
         MGI mouse knock-out Smarca2tm1Mya for SMARCA2

       inGenious Targeting Laboratory - Custom generated mouse model solutions for SMARCA2 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for SMARCA2

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for SMARCA2 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for SMARCA2 

    miRNA
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    8/35 QIAGEN miScript miRNA Assays for microRNAs that regulate SMARCA2 (see all 35):
    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 plasmidSMARCA2 3' UTR sequence
    Inhib. RNA
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    Gene Editing
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    Clone
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SMARCA2


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for SMARCA2 About   (see all 8)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Development Ligand-dependent activation of the ESR1/AP-1 pathway
    Development Ligand-dependent activation of the ESR1/AP-1 pathway0.37
    Chromatin Remodeling0.30
    Transcription Ligand-dependent activation of the ESR1/SP pathway0.37
    2PEDF Induced Signaling
    Glucocorticoid Receptor Signaling0.43
    3Regulation of Androgen receptor activity
    Regulation of Androgen receptor activity
    4E2F transcription factor network
    E2F transcription factor network
    5C-MYB transcription factor network
    C-MYB transcription factor network

    Pathways by source                                                                                                                                                                 See SuperPaths
    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
        Regulation of Androgen receptor activity
    C-MYB transcription factor network
    E2F 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)

    5/720 Interacting proteins for SMARCA2 (P515311, 2, 3 ENSP000002657734) via UniProtKB, MINT, STRING, and/or I2D (see all 720)
    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



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, 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 (SMCA2)

    1 Novoseek inferred 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

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
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    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    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
    17 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 ENST00000349721(uc003zhc.3) ENST00000357248(uc003zhd.3 uc010mha.3 uc010mhb.3)
    ENST00000324954
    miRNA
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    Additional mRNA 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):

    BM477198 AI572601 BQ446467 CD107405 BM671383 CD244440 BX509741 CR595322 
    BU935015 CD513892 AI241408 AA437098 BF435109 AW071466 BE646422 CD513355 
    AA897654 BU189078 AI081778 AA243388 BQ893068 BM714497 H41640 AI927960 

    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

    (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)      SMARCA2 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GTGTAAAAAA
    SMARCA2 Expression
    About this image


    SMARCA2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/37 selected tissues (see all 37) fully expand
     
     Epithelium
             vagina ; squamous epithelial cells   
     
     Uterus
             uterus, post-menopause ; glandular cells   
     
     Blood (Hematopoietic System)    fully expand to see all 5 entries
             Hematopoietic Stem Cells Hematopoietic Bone Marrow
             lung ; macrophages   
     
     Testis (Reproductive System)    fully expand to see all 4 entries
             Leydig Cells Testis Interstitium
             seminal vesicle ; glandular cells   
     
     Colon (Gastrointestinal Tract)    fully expand to see all 4 entries
             colon ; peripheral nerve/ganglion   

    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

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    (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 animals and fungi.

    Orthologs for SMARCA2 gene from 8/18 species (see all 18)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Smarca21 , 5 SWI/SNF related, matrix associated, actin dependent more1, 5 89.72(n)1
    97.46(a)1
      19 (21.17 cM)5
    671551  NM_011416.21  NP_035546.21 
     266051155 
    chicken
    (Gallus gallus)
    Aves SMARCA21 SWI/SNF related, matrix associated, actin dependent more 80.56(n)
    93.04(a)
      396040  NM_205139.1  NP_990470.1 
    lizard
    (Anolis carolinensis)
    Reptilia SMARCA26
    SWI/SNF related, matrix associated, actin dependen...
    91(a)
    1 ↔ 1
    2(50825323-50945499)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia Str.104292 Transcribed sequence with moderate similarity to protein more 78.83(n)    BX685877.1 
    zebrafish
    (Danio rerio)
    Actinopterygii wufi27f112 Danio rerio, Similar to SWI/SNF related, matrix associated, more 75.54(n)    BC060676.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta brm3 positive regulation of transcription by
    homeotic more
    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 more4
    Sth1p1
    52.72(n)1
    48.83(a)1
      15(860258-855147)4
    8546801  NP_012140.11  8544654 
     NP_014933.14 


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

    (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



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, 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

    10/4844 SNPs in SMARCA2 are shown (see all 4844)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 9 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0681864
    Nicolaides-Baraitser syndrome (NCBRS)4--see VAR_0681862 H N mis40--------
    rs2818751871,2,4
    CNicolaides-Baraitser syndrome (NCBRS)4 pathogenic12111004(+) AGACCA/G/TAGCTC 6 Q R L mis10--------
    rs769167451,2
    F--2008481(+) CGACTT/CATTAG 2 -- us2k11Minor allele frequency- C:0.03WA 118
    rs760178001,2
    C--2008494(+) AGTTAC/GAAGTT 2 -- us2k10--------
    rs1844750031,2
    --2008554(+) TCCCTA/GTATAT 2 -- us2k10--------
    rs1898399671,2
    --2008567(+) CTCAGA/TTAATA 2 -- us2k10--------
    rs1814383781,2
    --2008614(+) CTTACA/GATGGA 2 -- us2k10--------
    rs1159435401,2
    F--2008633(+) GGCACA/TCTATA 2 -- us2k11Minor allele frequency- T:0.01WA 118
    rs47416361,2
    C,F,A,H--2008692(+) CAAGAT/CAGACA 2 -- us2k124Minor allele frequency- C:0.33NS EA NA WA CSA 2355
    rs1867731091,2
    --2008749(+) AAGCTA/GTAGGG 2 -- us2k10--------

    HapMap Linkage Disequilibrium report for SMARCA2 (2015342 - 2193624 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10/27 variations for SMARCA2 (see all 27):    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2672241CNV Deletion23128226
    esv2678891CNV Deletion23128226
    esv2657759CNV Deletion23128226
    esv2676342CNV Deletion23128226
    nsv6456CNV Insertion18451855
    nsv466070CNV Loss19166990
    nsv518986CNV Loss19592680
    nsv824818CNV Loss20364138
    dgv912n27CNV Loss19166990
    nsv466077CNV Loss19166990


    Human Gene Mutation Database (HGMD): SMARCA2
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing SMARCA2
    DNA2.0 Custom Variant and Variant Library Synthesis for SMARCA2

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 600014    OMIM disorders: --

    UniProtKB/Swiss-Prot: SMCA2_HUMAN, P51531
  • 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. Note=The disease is caused by mutations affecting the gene represented in this entry

  • 20/31 diseases for SMARCA2 (see all 31):    About MalaCards
    nicolaides baraitser syndrome    smarca2-related coffin-siris syndrome    enamel erosion    coffin-siris syndrome
    alpha thalassemia    dental caries    williams syndrome    brachydactyly
    thalassemia    synovial sarcoma    microphthalmia    skin cancer
    macular degeneration    age related macular degeneration    short stature    retinoblastoma
    intellectual disability    gingivitis    mental retardation    sarcoma

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

    SMARCA2 for disorders           About GeneDecksing

    6 Novoseek inferred 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)

    Genetic Association Database (GAD): SMARCA2
    Human Genome Epidemiology (HuGE) Navigator: SMARCA2 (5 documents)

    Export disorders for SMARCA2 gene to outside databases

    (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 182):
    (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. Association study of the trinucleotide repeat polymorphism within SMARCA2 and schizophrenia. (PubMed id 16749937)1, 4, 9 Sengupta S....Joober R. (2006)
    3. Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome. (PubMed id 22366787)1, 2 Van Houdt J.K.... Vermeesch J.R. (2012)
    4. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (2010)
    5. Screening and association testing of common coding variation in steroid hormone receptor co-activator and co-repressor genes in relation to breast cancer risk: the Multiethnic Cohort. (PubMed id 19183483)1, 4 Haiman C.A....Press M.F. (2009)
    6. Multiple genetic variants along candidate pathways influence plasma high-density lipoprotein cholesterol concentrations. (PubMed id 18660489)1, 4 Lu Y....Boer J.M. (2008)
    7. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)1, 2 Olsen J.V....Mann M. (2006)
    8. 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)
    9. 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)
    10. 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)

    (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)

    (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

    (According to HUGE)
    About This Section
      --

    (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

    (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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    transforming growth factor, beta 1
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