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

SMARCA4 Gene

protein-coding   GIFtS: 67
GCID: GC19P011071

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


(Previous symbol: SNF2L4)
 Explore 73 diseases affiliated with
SMARCA4 via our new
 Human Malady Compendium 
Biological research products
for SMARCA4
    

(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 41 2
     FLJ397861
BRG11 2 3 5     SNF2-BETA1
SNF2L41 2 3     MRD162
BAF1901 2     Brahma Protein-Like 12
SNF21 2     BRM/SWI2-Related Gene 12
SNF2LB1 2     Global Transcription Activator Homologous Sequence2
SWI21 2     Homeotic Gene Regulator2
HSNF2b1     Nuclear Protein GRB12
Mitotic Growth And Transcription Activator2 3     SNF2-Like 42
Protein Brahma Homolog 12 3     Sucrose Nonfermenting-Like 42
Protein BRG-12 3     Transcription Activator BRG12
BAF190A2 3     EC 3.6.4.-3
SNF2-Beta1     SNF2B3
ATP-Dependent Helicase SMARCA42 3     SWI/SNF-Related Matrix-Associated Actin-Dependent Regulator Of Chromatin
Subfamily A Member 43
BRG1-Associated Factor 190A2 3     EC 3.6.18
RTPS22 5     

External Ids:    HGNC: 111001   Entrez Gene: 65972   Ensembl: ENSG000001276167   OMIM: 6032545   UniProtKB: P515323   

Export aliases for SMARCA4 gene to outside databases

Previous GC identifers: GC19P011203 GC19P010916 GC19P010932 GC19P010649


(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 SMARCA4:
The protein encoded by this gene is a member of the SWI/SNF family of proteins and is similar to the brahma protein of
Drosophila. Members of this family have helicase and ATPase activities and are thought to regulate transcription of
certain genes by altering the chromatin structure around those genes. The encoded protein is part of the large
ATP-dependent chromatin remodeling complex SNF/SWI, which is required for transcriptional activation of genes normally
repressed by chromatin. In addition, this protein can bind BRCA1, as well as regulate the expression of the
tumorigenic protein CD44. Mutations in this gene cause rhabdoid tumor predisposition syndrome type 2. Multiple
transcript variants encoding different isoforms have been found for this gene. (provided by RefSeq, May 2012)

UniProtKB/Swiss-Prot: SMCA4_HUMAN, P51532
Function: Transcriptional coactivator cooperating with nuclear hormone receptors to potentiate transcriptional
activation. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by
orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting
neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC
repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the
repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent
mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and
activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP. 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. SMARCA4/BAF190A may promote neural stem cell
self-renewal/proliferation by enhancing Notch-dependent proliferative signals, while concurrently making the neural
stem cell insensitive to SHH-dependent differentiating cues (By similarity). 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.
Acts as a corepressor of ZEB1 to regulate E-cadherin transcription and is required for induction of
epithelial-mesenchymal transition (EMT) by ZEB1

Gene Wiki entry for SMARCA4


(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_000019.9  NC_018930.1  NT_011295.11  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the SMARCA4 gene promoter:
         NF-1   NF-1/L   STAT1   MyoD   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSMARCA4 promoter sequence
   Search SABiosciences Chromatin IP Primers for SMARCA4

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SMARCA4


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

Entrez Gene cytogenetic band: 19p13.2   Ensembl cytogenetic band:  19p13.2   HGNC cytogenetic band: 19p13.3

SMARCA4 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SMARCA4 gene location

GeneLoc information about chromosome 19         GeneLoc Exon Structure

GeneLoc location for GC19P011071:  view genomic region     (about GC identifiers)

Start:
11,071,598 bp from pter      End:
11,176,071 bp from pter
Size:
104,474 bases      Orientation:
plus strand

(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: SMCA4_HUMAN, P51532 (See protein sequence)
Recommended Name: Transcription activator BRG1  
Size: 1647 amino acids; 184646 Da
Subunit: Component of the CREST-BRG1 complex, at least composed of SMARCA4/BRG1/BAF190A, SS18L1/CREST, HDAC1, RB1 and
SP1 (By similarity). Interacts with NR3C1, PGR, SMARD1, TOPBP1 and ZMIM2/ZIMP7. 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, IKFZ1, and one or more of SMARCD1/BAF60A,
SMARCD2/BAF60B, or SMARCD3/BAF60C. Interacts directly with IKFZ1 in the BAF complex. In muscle cells, the BAF complex
also contains DPF3. Component of the BAF53 complex, at least composed of BAF53A, RUVBL1, SMARCA4/BRG1/BAF190A, and
TRRAP, which preferentially acetylates histone H4 (and H2A) within nucleosomes. Component of the WINAC complex, at
least composed of SMARCA2, SMARCA4, SMARCB1, SMARCC1, SMARCC2, SMARCD1, SMARCE1, ACTL6A, BAZ1B/WSTF, ARID1A, SUPT16H,
CHAF1A and TOP2B. Interacts with (via the bromodomain) with TERT; the interaction regulates Wnt-mediated signaling.
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). Interacts with ZEB1 (via N-terminus)
Subcellular location: Nucleus
3 PDB 3D structures from and Proteopedia for SMARCA4:
2GRC (3D)        2H60 (3D)        3UVD (3D)    
Secondary accessions: B1A8Z4 B1A8Z5 B1A8Z6 B1A8Z7 E9PBR8 O95052 Q9HBD3
Alternative splicing: 5 isoforms:  P51532-1   P51532-2   P51532-3   P51532-4   P51532-5   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for SMARCA4: NX_P51532

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P51532

  • 4/12 DME Specific Peptides for SMARCA4 (P51532) (see all 12)
     RAHRIGQ  TGTPLQN  LHKVLRP  DSDWNPH 

    SMARCA4 Protein expression data from MOPED and PaxDb:    About this image 
    SMARCA4 Protein Expression
    REFSEQ proteins (7 alternative transcripts): 
    NP_001122316.1  NP_001122317.1  NP_001122318.1  NP_001122319.1  NP_001122320.1  NP_001122321.1  NP_003063.2  

    ENSEMBL proteins: 
     ENSP00000343896   ENSP00000395654   ENSP00000445036   ENSP00000464778   ENSP00000392837  
     ENSP00000466963   ENSP00000443848   ENSP00000467200   ENSP00000467796   ENSP00000350720  
     ENSP00000414727   ENSP00000397783  

    Human Recombinant Protein Products for SMARCA4: 
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    OriGene Protein Over-expression Lysate: SMARCA4
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    Novus Biologicals SMARCA4 Protein
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn Proteins for SMARCA4

    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 IDA15774904
    GO:0000792heterochromatin ----
    GO:0005625soluble fraction ----
    GO:0005634nucleus IDA11726552
    GO:0005719nuclear euchromatin ----

    SMARCA4 for ontologies           About GeneDecksing



    SMARCA4 Antibody Products: 
    EMD Millipore Mono- and Polyclonal Antibodies for the study of SMARCA4
    R&D Systems Antibodies for SMARCA4 (Brg1)
    Cell Signaling Technology (CST) Antibodies for SMARCA4 
    OriGene Antibodies (see all 4): SMARCA4
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    GenScript Custom Superior Antibodies Services for SMARCA4
    Novus Biologicals SMARCA4 Antibodies
    Abcam antibodies for SMARCA4 
    Uscn Antibodies for SMARCA4
    ThermoFisher Antibodies for SMARCA4

    Assay Products for SMARCA4: 
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    Uscn ELISAs and CLIAs for SMARCA4


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

    SMARCA4 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 P51532

    ProtoNet protein and cluster: P51532

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


    UniProtKB/Swiss-Prot: SMCA4_HUMAN, P51532
    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


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, 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, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: SMCA4_HUMAN, P51532
    Function: Transcriptional coactivator cooperating with nuclear hormone receptors to potentiate transcriptional
    activation. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by
    orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting
    neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC
    repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the
    repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent
    mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and
    activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP. 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. SMARCA4/BAF190A may promote neural stem cell
    self-renewal/proliferation by enhancing Notch-dependent proliferative signals, while concurrently making the neural
    stem cell insensitive to SHH-dependent differentiating cues (By similarity). 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.
    Acts as a corepressor of ZEB1 to regulate E-cadherin transcription and is required for induction of
    epithelial-mesenchymal transition (EMT) by ZEB1

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

         Gene Ontology (GO): 5/16 molecular function terms (GO ID links to tree view) (see all 16):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000977RNA polymerase II regulatory region sequence-specific DNA binding ----
    GO:0001105RNA polymerase II transcription coactivator activity IDA15774904
    GO:0002039p53 binding IPI11950834
    GO:0003677DNA binding IEA--
    GO:0003682chromatin binding ----
         
    SMARCA4 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for SMARCA4:
     Increased cell number in G2M,  

         15/16 MGI mutant phenotypes (inferred from 6 alleles(MGI details for Smarca4) (see all 16):
     cardiovascular system  cellular  digestive/alimentary  embryogenesis  hematopoietic system 
     homeostasis/metabolism  immune system  integument  limbs/digits/tail  liver/biliary system 
     mortality/aging  muscle  nervous system  renal/urinary system  respiratory system 

    SMARCA4 for phenotypes           About GeneDecksing

    Animal Models:
         Mouse knock-out Smarca4tm1Mag for SMARCA4
       inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for SMARCA4 

    miRNA
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    OriGene 3'-UTR Clone (see all 7): SMARCA4
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat SMARCA4
    8/28 QIAGEN miScript miRNA Assays for microRNAs that regulate SMARCA4 (see all 28):
    hsa-miR-3673 hsa-miR-631 hsa-miR-139-5p hsa-miR-1278 hsa-miR-3661 hsa-miR-888* hsa-miR-144 hsa-miR-199b-5p
    SwitchGear 3'UTR luciferase reporter plasmidSMARCA4 3' UTR sequence
    Inhib. RNA
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    OriGene siRNA: SMARCA4
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    Sirion Biotech Custom design and validation of potent shRNA sequences against SMARCA4 

    Gene Editing
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    Clone
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    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for SMARCA4 (see all 11)
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    Cell Line
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SMARCA4


    (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 - 5/15 super-pathways (see all 15About 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
    2DNA Damage
    DNA Damage1.00
    3Chromatin Regulation / Acetylation
    Chromatin Regulation / Acetylation1.00
    4BRCA1 Pathway
    BRCA1 Pathway1.00
    5WNT Signaling
    WNT Signaling1.00

    Pathway sources
    See GeneCards unified pathways
    Show all pathways

    2 EMD Millipore Pathways for SMARCA4
        Development Ligand-dependent activation of the ESR1/AP-1 pathway
    Transcription Ligand-dependent activation of the ESR1/SP pathway

    5/6 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for SMARCA4 (see all 6)
        AHR Pathway
    AMPK Enzyme Complex Pathway
    BRCA1 Pathway
    Glucocorticoid Receptor Signaling
    Chromatin Remodeling

    3 Cell Signaling Technology (CST) Pathways for SMARCA4
        Chromatin Regulation / Acetylation
    Translational Control
    DNA Damage

    2 GeneGo (Thomson Reuters) Pathways for SMARCA4
        Transcription Ligand-dependent activation of the ESR1/SP pathway
    Development Ligand-dependent activation of the ESR1/AP-1 pathway

    5/6 BioSystems Pathways for SMARCA4 (see all 6
        Integrated Breast Cancer Pathway
    TNF-alpha/NF-kB Signaling Pathway
    Regulation of retinoblastoma protein
    Regulation of Wnt-mediated beta catenin signaling and target gene transcription
    Direct p53 effectors



    SMARCA4 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for SMARCA4

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

    5/355 Interacting proteins for SMARCA4 (P515321, 2, 3 ENSP000003507204) via UniProtKB, MINT, STRING, and/or I2D (see all 355)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    HIST1H4AP628052, 3MINT-7914854 I2D: score=3 
    HIST1H4BP628052, 3MINT-7914854 I2D: score=3 
    HIST1H4CP628052, 3MINT-7914854 I2D: score=3 
    HIST1H4DP628052, 3MINT-7914854 I2D: score=3 
    HIST1H4EP628052, 3MINT-7914854 I2D: score=3 
    About this table

    Gene Ontology (GO): 5/38 biological process terms (GO ID links to tree view) (see all 38):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000122negative regulation of transcription from RNA polymerase II promoter TAS17938176
    GO:0000902cell morphogenesis ----
    GO:0001570vasculogenesis ----
    GO:0001701in utero embryonic development ----
    GO:0001832blastocyst growth ----

    SMARCA4 for ontologies           About GeneDecksing



    (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

    SMARCA4 for compounds           About GeneDecksing

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

    Browse Tocris compounds for SMARCA4
    10/24 Novoseek chemical compound relationships for SMARCA4 gene (see all 24)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    tpmp 62.6 1 15319865 (1)
    vancomycin 37.1 11 16323119 (2), 16813981 (1), 16464892 (1), 11959587 (1) (see all 7)
    trypsinogen 32.8 2 15506908 (1), 17033333 (1)
    androstane 28.8 1 18056193 (1)
    histidine 16.8 3 17479344 (1), 19239646 (1)
    atp 16.8 6 11435432 (3), 10733587 (1), 19556365 (1)
    dihydrofolate 14.7 3 16735515 (2)
    steroid 7.85 5 20526952 (1), 19184727 (1), 18842620 (1)
    estrogen 7.38 16 11003650 (4), 12775722 (1), 11336882 (1), 14729568 (1)
    zinc 7.19 4 15939400 (1), 12620226 (1), 9436984 (1), 18524893 (1)

    Search CenterWatch for drugs/clinical trials and news about SMARCA4 / SMCA4 

    (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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, Sirion Biotech, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for SMARCA4 gene (7 alternative transcripts): 
    NM_001128844.1  NM_001128845.1  NM_001128846.1  NM_001128847.1  NM_001128848.1  NM_001128849.1  NM_003072.3  

    Unigene Cluster for SMARCA4:

    SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4
    Hs.327527  [show with all ESTs]
    Unigene Representative Sequence: NM_001128844
    18/20 Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 20):
    ENST00000344626(uc002mqg.1) ENST00000429416(uc002mqe.2 uc010dxp.3 uc002mqf.4 uc010dxq.3 uc010dxr.3 uc002mqj.4 uc010dxs.3 uc002mqh.4)
    ENST00000541122 ENST00000589677 ENST00000444061(uc010dxt.1 uc002mqi.1)
    ENST00000590574 ENST00000591545 ENST00000592604 ENST00000586122 ENST00000587988
    ENST00000591595 ENST00000585799 ENST00000538456 ENST00000592158 ENST00000586892
    ENST00000586985 ENST00000586921 ENST00000358026(uc010dxo.3)

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat SMARCA4
    8/28 QIAGEN miScript miRNA Assays for microRNAs that regulate SMARCA4 (see all 28):
    hsa-miR-3673 hsa-miR-631 hsa-miR-139-5p hsa-miR-1278 hsa-miR-3661 hsa-miR-888* hsa-miR-144 hsa-miR-199b-5p
    SwitchGear 3'UTR luciferase reporter plasmidSMARCA4 3' UTR sequence
    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for SMARCA4 (see all 7)
    OriGene shRNA RFP: SMARCA4
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat SMARCA4
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    Additional cDNA sequence: 

    AK026573.1 AK290033.1 AK299761.1 AK303352.1 AK308763.1 BC007302.1 BC033232.1 BC035916.1 
    BC139917.1 BC139924.1 BC150298.1 D26156.1 EU430756.1 EU430757.1 EU430758.1 EU430759.1 
    U29175.1 

    24/33 DOTS entries (see all 33):

    DT.450147  DT.97797205  DT.97863067  DT.100044658  DT.92459331  DT.95278969  DT.95261723  DT.419850 
    DT.100641871  DT.121416303  DT.86999107  DT.85104775  DT.95261718  DT.121416575  DT.97772615  DT.86846751 
    DT.95261707  DT.95261729  DT.100734005  DT.100847963  DT.100861490  DT.101957292  DT.102836808  DT.121416154 

    24/896 AceView cDNA sequences (see all 896):

    BF663247 BQ709049 D26156 BU608385 AA687287 BQ953285 BU857846 BU149976 
    BE252756 AW575077 BQ643752 AI076086 BX356713 AI879580 CB044609 BE513612 
    BF054976 CF138885 BM804147 BE894368 BE901358 AA788842 BI117829 AU131551 

    GeneLoc Exon Structure

    5/27 Alternative Splicing Database (ASD) splice patterns (SP) for SMARCA4 (see all 27)    About this scheme

    ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7a · 7b · 7c · 7d ^ 8a · 8b · 8c · 8d · 8e ^ 9 ^ 10 ^ 11 ^ 12a · 12b ^ 13a · 13b ^
    SP1:                                                                                                                                                            
    SP2:                                                                                                                                                            
    SP3:                                                                                                                                                            
    SP4:                                                                                                                                                            
    SP5:                                                                                                                                                            

    ExUns: 14a · 14b ^ 15a · 15b ^ 16 ^ 17a · 17b · 17c ^ 18a · 18b · 18c ^ 19a · 19b ^ 20 ^ 21a · 21b ^ 22a · 22b · 22c ^ 23a · 23b · 23c ^ 24a · 24b ^ 25 ^ 26 ^
    SP1:  -                                                                                                                                                         
    SP2:  -                                                                                                                                                         
    SP3:  -                                                                                                                                                         
    SP4:                                                                                                                                                            
    SP5:                                                                                                                                                            

    ExUns: 27 ^ 28 ^ 29a · 29b · 29c ^ 30 ^ 31 ^ 32a · 32b ^ 33 ^ 34
    SP1:                                                                  
    SP2:                                                                  
    SP3:                                                                  
    SP4:                                                                  
    SP5:                                                                  


    ECgene alternative splicing isoforms for SMARCA4

    (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

    SMARCA4 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TGCGTCACCG
    SMARCA4 Expression
    About this image

    SMARCA4 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table

    2 LifeMap In Vivo Development Anatomical Compartments/Cells 
    Tissue Anatomical Compartment CellCategory (developmental path)
    EyeRetinaEye
    KidneyMetanephrosKidney
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See SMARCA4 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for SMARCA4

    SOURCE GeneReport for Unigene cluster: Hs.327527

    UniProtKB/Swiss-Prot: SMCA4_HUMAN, P51532
    Tissue specificity: Colocalizes with ZEB1 in E-cadherin-negative cells from established lines, and stroma of normal
    colon as well as in de-differentiated epithelial cells at the invasion front of colorectal carcinomas (at protein
    level)

        SABiosciences Expression via Pathway-Focused PCR Arrays including SMARCA4: 
              Polycomb & Trithorax Complexes in human mouse rat
              Epigenetic Chromatin Remodeling Factors in human mouse rat

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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SMARCA4

    (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 SMARCA4 gene from 7/32 species (see all 32)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.34452 Xenopus laevis transcribed sequence with moderate similarity more 80.28(n)    BU913051.1 
    zebrafish
    (Danio rerio)
    Actinopterygii smarca42 SWI/SNF related, matrix associated, actin dependent more 79.59(n)   353295  AY205256.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta brm1 , 3 positive regulation of transcription by
    homeotic more3
    brahma1
    61(a)3
    61.35(n)1
    60.32(a)1
      3 72C13
    397441  NM_080498.21  NP_536746.11 
    worm
    (Caenorhabditis elegans)
    Secernentea C52B9.83
    swsn-41
    helicase3
    Protein SWSN-41
    53(a)3
    54.62(n)1
    56.09(a)1
      X(4333379-4338468)3
    1780151  NM_069681.41  NP_502082.11 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes SNF21 Snf2p 44.3(n)
    39.62(a)
      854465   NP_014933.3 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons ATCHR121 Homeotic gene regulator 50.26(n)
    46.73(a)
      819772  NM_111475.2  NP_187252.2 
    rice
    (Oryza sativa)
    Liliopsida Os05g01443001 hypothetical protein 51.43(n)
    49.01(a)
      4337784  NM_001061159.1  NP_001054624.1 


    ENSEMBL Gene Tree for SMARCA4 (if available)
    TreeFam Gene Tree for SMARCA4 (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for SMARCA4 gene
    SMARCA22  
    9 SIMAP similar genes for SMARCA4 using alignment to 8 protein entries:     SMCA4_HUMAN (see all proteins):
    CHD5    SMARCA2    CHD2    SMARCA5    PBRM1    ATRX
    CHD1L    HELLS    SMARCA1

    SMARCA4 for paralogs           About GeneDecksing



    (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

    10/1820 NCBI SNPs in SMARCA4 are shown (see all 1820    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 19 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs730113621,2
    C,F--11069908(+) CTATTT/AGGGAG 3 -- us2k16Minor allele frequency- A:0.37NA CSA WA EA 363
    rs1461271121,2
    --11070048(+) CCAGGG/TGAGGT 3 -- us2k10--------
    rs1487803841,2
    --11070061(+) CTCACG/TCCTGT 3 -- us2k10--------
    rs1425531571,2
    --11070129(+) ACCAGA/CCTGGC 3 -- us2k10--------
    rs560274081,2
    --11070184(+) CGGGCA/GTGGTG 3 -- us2k10--------
    rs1394588861,2
    --11070192(+) GTGGCA/GGACGC 3 -- us2k10--------
    rs561885181,2
    C--11070292(+) CACTCC/TAGCCT 3 -- us2k12Minor allele frequency- T:0.07NA 122
    rs1412798761,2
    C--11070324(+) TCTCA-/AAAC  
            
    AAACA
    3 -- us2k10--------
    rs1424122801,2
    C--11070324(+) TCTCA-/AAA   
       CAAAC
    AAACA
    3 -- us2k10--------
    rs711641371,2
    C--11070325(-) TTGTG-/TGTT  
            
    TGTTT
    3 -- us2k11Minor allele frequency- TGTT:0.00NA 2

    HapMap Linkage Disequilibrium report for SMARCA4 (11071598 - 11176071 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 2 variations for SMARCA4
         2 Inversions: 37200 37199
    Human Gene Mutation Database (HGMD): SMARCA4

    SABiosciences Cancer Mutation PCR Assays
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    DNA2.0 Custom Variant and Variant Library Synthesis for SMARCA4

    (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

    SMARCA4 for disorders           About GeneDecksing

    OMIM gene information: 603254   
    OMIM disorders: 613325  
    UniProtKB/Swiss-Prot: SMCA4_HUMAN, P51532
  • Defects in SMARCA4 are the cause of rhabdoid tumor predisposition syndrome type 2 (RTPS2) [MIM:613325]. RTPS2
  • is a familial cancer syndrome predisposing to renal or extrarenal malignant rhabdoid tumors and to a variety of tumors
    of the central nervous system, including choroid plexus carcinoma, medulloblastoma, and central primitive
    neuroectodermal tumors. Rhabdoid tumors are the most aggressive and lethal malignancies occurring in early childhood
  • Defects in SMARCA4 are the cause of mental retardation autosomal dominant type 16 (MRD16) [MIM:614609]. A
  • disease characterized by multiple congenital anomalies and mental retardation. Mental retardation is defined by
    significantly below average general intellectual functioning associated with impairments in adaptative behavior and
    manifested during the developmental period. MRD16 patients manifest developmental delay, absent or hypoplastic fifth
    fingernails or toenails, thick eyebrows and long eyelashes, hirsutism. Additional findings include hypotonia,
    microcephaly, seizures, a Dandy-Walker malformation, and vision and hearing problems

    20/73 diseases for SMARCA4 (see all 73):    About MalaCards
    tumor predisposition syndrome    rhabdoid tumors    peutz-jeghers syndrome    rhabdoid tumor predisposition syndrome 2
    oculopharyngeal muscular dystrophy    enamel erosion    primitive neuroectodermal tumor    dental caries
    myxoid liposarcoma    choroid plexus carcinoma    alpha thalassemia    muscular dystrophy
    glucocorticoid resistance    neuroectodermal tumors    stargardt disease    cystic fibrosis
    cylindromatosis    intellectual disability    liposarcoma    lymphosarcoma

    5 diseases from the University of Copenhagen DISEASES database for SMARCA4:
    Dental caries     Gingivitis     Alpha thalassemia     Intellectual disability
    Cockayne syndrome

    10/33 Novoseek disease relationships for SMARCA4 gene (see all 33)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    retinoblastoma 43.3 7 14729964 (2), 15378006 (1), 15240517 (1), 16452305 (1) (see all 6)
    tumors 37 61 11085541 (5), 11850839 (3), 15586241 (3), 14673169 (3) (see all 33)
    cancer 35.9 29 15586241 (2), 17075831 (2), 15287030 (2), 16824695 (2) (see all 21)
    cystic fibrosis 30.4 12 9463322 (1), 10627945 (1), 11768555 (1), 15506908 (1) (see all 11)
    peutz-jeghers syndrome 25 1 15756273 (1)
    bacteremia 23.1 3 16323119 (2), 15319865 (1)
    nsclc 13.6 6 12566296 (2), 15240517 (1), 18386774 (1)
    pancreatic carcinoma 10.8 2 11414763 (1), 11147808 (1)
    oral cancer 9.68 5 15586241 (3), 16824695 (2)
    prostate cancer 4.97 10 12684665 (4), 17075831 (3), 18336616 (1)

    Human Genome Epidemiology (HuGE) Navigator: SMARCA4 (6 documents)
    Tumor Gene Database (TGDB): SMARCA4

    Export disorders for SMARCA4 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 SMARCA4 gene, integrated from 9 sources (see all 426):
    (articles sorted by number of sources associating them with SMARCA4)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. 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, 3 Chiba H.... Kato H. (1994)
    2. BRG1, a component of the SWI-SNF complex, is mutated in multiple human tumor cell lines. (PubMed id 11085541)1, 2, 9 Wong A.K.C.... Lees E. (2000)
    3. Solution structure of human Brg1 bromodomain and its specific binding to acetylated histone tails. (PubMed id 17274598)1, 2, 9 Shen W....Shi Y. (2007)
    4. Structural ramification for acetyl-lysine recognition by the bromodomain of human BRG1 protein, a central ATPase of the SWI/SNF remodeling complex. (PubMed id 17582821)1, 2, 9 Singh M.... Holak T.A. (2007)
    5. Frequent BRG1/SMARCA4-inactivating mutations in human lung cancer cell lines. (PubMed id 18386774)1, 2, 9 Medina P.P....Sanchez-Cespedes M. (2008)
    6. BRG1 contains a conserved domain of the SWI2/SNF2 family necessary for normal mitotic growth and transcription. (PubMed id 8232556)1, 2, 9 Khavari P.A.... Crabtree G.R. (1993)
    7. BAF60a mediates critical interactions between nuclear receptors and the BRG1 chromatin-remodeling complex for transactivation. (PubMed id 12917342)1, 2, 9 Hsiao P.W.... Archer T.K. (2003)
    8. Mutations affecting components of the SWI/SNF complex cause Coffin- Siris syndrome. (PubMed id 22426308)1, 2 Tsurusaki Y....Matsumoto N. (2012)
    9. ZEB1 represses E-cadherin and induces an EMT by recru iting the SWI/SNF chromatin-remodeling protein BRG1. (PubMed id 20418909)1, 2 SA!nchez-TillA^ E....Postigo A. (2010)
    10. Germline nonsense mutation and somatic inactivation o f SMARCA4/BRG1 in a family with rhabdoid tumor predisposition syndrome. (PubMed id 20137775)1, 2 Schneppenheim R....Siebert R. (2010)

    (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: 6597 HGNC: 11100 AceView: SMARCA4 Ensembl:ENSG00000127616 euGenes: HUgn6597
    ECgene: SMARCA4 H-InvDB: SMARCA4

    (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 SMARCA4 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for SMARCA4 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 SMARCA4 gene:
    Search GeneIP for patents involving SMARCA4

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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, LifeMap BioReagents, and Sirion Biotech, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory)
    About This Section

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     SMARCA4 Proteins, Antibodies, CLIAs, and ELISAs
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    GeneCards Homepage - Last full update: 19 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013 , 13 May 2013

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    Category
    VWF
    (GIFTS: 73)
    von Willebrand factor
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


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