SMARCA4 Gene
protein-coding GIFtS : 67
GCID: GC19 P011071
SWI/SNF related, matrix associated, actin dependent regulator... (Previous symbol: SNF2L4 )
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Aliasesfor SMARCA4 gene
(According to
1 HGNC ,
2 Entrez Gene ,
3 UniProtKB/Swiss-Prot ,
4 UniProtKB/TrEMBL , 5 OMIM , 6 GeneLoc ,
7 Ensembl ,
8 DME ,
9 miRBase ,
and/or 10 fRNAdb )About This Section Aliases SWI/SNF Related, Matrix Associated, Actin Dependent Regulator Of Chromatin,Subfamily A, Member 4 1 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 ChromatinSubfamily A Member 43 BRG1-Associated Factor 190A2 3 EC 3.6.18 RTPS22 5
Export aliases for SMARCA4 gene to outside databases Previous GC identifers: GC19P011203 GC19P010916 GC19P010932 GC19P010649
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Summariesfor SMARCA4 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 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 transcriptionalactivation. 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
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Genomic Viewsfor SMARCA4 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_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 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) 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
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Proteinsfor SMARCA4 gene
(According to
1 UniProtKB ,
HORDE ,
neXtProt ,
Ensembl ,
and/or Reactome ,
Modification sites according to 2 PhosphoSitePlus ,
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 andSP1 (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 Q9HBD3Alternative 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 PhosphoSitePlus 2 View neXtProt modification sites for NX_P51532 4/12 DME Specific Peptides for SMARCA4 (P51532 ) (see all 12 )SMARCA4 Protein expression data from MOPED and PaxDb : About this image 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: Gene Ontology (GO): 5/10 cellular component terms (GO ID links to tree view) (see all 10 ): About this table
SMARCA4 for ontologies About GeneDecksing SMARCA4 Antibody Products: Assay Products for SMARCA4:
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Protein
Domains / Familiesfor SMARCA4 gene (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 ):
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 familySimilarity : Contains 1 bromo domainSimilarity : Contains 1 helicase ATP-binding domainSimilarity : Contains 1 helicase C-terminal domainSimilarity : Contains 1 HSA domainSimilarity : Contains 1 QLQ domain
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Functionfor SMARCA4 gene
(According to 1 UniProtKB ,
Genatlas ,
LifeMap Discovery™ ,
IUBMB , and/or
2 DME ,
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 transcriptionalactivation. 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 3.6.1 2 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
SMARCA4 for ontologies About GeneDecksing Phenotypes: 1 GenomeRNAi human phenotype for SMARCA4 : 15/16 MGI mutant phenotypes (inferred from 6 alleles ) (MGI details for Smarca4) (see all 16 ):
SMARCA4 for phenotypes About GeneDecksing Animal Models: Mouse knock-out Smarca4 tm1Mag for SMARCA4Clone Products: Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human , mouse , rat for SMARCA4 (see all 11 ) OriGene untagged cDNA clones in CMV expression vector in human , mouse , rat for SMARCA4 (see all 7 )OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling GenScript: all cDNA clones in your preferred vector (see all 7 ): SMARCA4 (NM_003072 ) Browse Sino Biological Human cDNA Clones DNA2.0 Custom Codon Optimized Gene
Synthesis Service for SMARCA4 Vector BioLabs ready-to-use adenovirus/AAV for human , mouse , rat SMARCA4
In Situ Assay Products: Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SMARCA4
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Pathways & Interactionsfor SMARCA4 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 1 UniProtKB ,
2 MINT ,
3 I2D , and/or
4 STRING ,
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 15 ) About this table See pathways by source Super-pathway contained gene-specific pathways 1 Development_Ligand-dependent activation of the ESR1/AP-1 pathway 2 DNA Damage 3 Chromatin Regulation / Acetylation 4 BRCA1 Pathway 5 WNT Signaling
Pathway sources See GeneCards unified pathways Show all pathways 2 EMD Millipore Pathways for SMARCA4 5/6 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for SMARCA4 (see all 6 )3
Cell Signaling Technology (CST) Pathways for SMARCA4 2 GeneGo (Thomson Reuters) Pathways for SMARCA4 5/6 BioSystems Pathways for SMARCA4 (see all 6 )
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 (P51532 1 , 2 , 3 ENSP00000350720 4 ) via UniProtKB, MINT, STRING , and/or I2D (see all 355 )About this table Gene Ontology (GO): 5/38 biological process terms (GO ID links to tree view) (see all 38 ): About this table
SMARCA4 for ontologies About GeneDecksing
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Drugs & Compoundsfor SMARCA4 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
SMARCA4 for compounds About GeneDecksing 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
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Transcriptsfor SMARCA4 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 ,
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 ) Clone Products: OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human , mouse , rat for SMARCA4 (see all 11 ) OriGene untagged cDNA clones in CMV expression vector in human , mouse , rat for SMARCA4 (see all 7 )OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling GenScript: all cDNA clones in your preferred vector (see all 7 ): SMARCA4 (NM_003072 ) DNA2.0 Custom Codon Optimized Gene
Synthesis Service for SMARCA4 Vector BioLabs ready-to-use adenovirus/AAV for human , mouse , rat SMARCA4
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
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Expression for SMARCA4 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 SMARCA4 expression in normal human tissues (normalized intensities) See probesets specificity/sensitivity at GeneAnnot About this image BioGPS CGAP TAG: TGCGTCACCGAbout 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
Cell Category (developmental path) Eye Retina Eye Kidney Metanephros Kidney Expression: Positive Negative
Selective markerExperimental 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 normalcolon 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
Primer Products: OriGene genome-wide validated SYBR primer pairs in human , mouse , rat for SMARCA4Browse OriGene validated miRNA SYBR primer pairs SABiosciences RT2 qPCR Primer Assay in human , mouse , rat SMARCA4 QIAGEN QuantiTect SYBR Green Assays in human , mouse , rat SMARCA4 QIAGEN QuantiFast Probe-based Assays in human , mouse , rat SMARCA4 In Situ Assay Products: Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SMARCA4
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Orthologsfor SMARCA4 gene
(Orthologs according to
1,2 HomoloGene (2 older version, for species not in 1 newer version),
3 euGenes ,
4 SGD
,
5 MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase ,
and/or
6 Ensembl 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 more 3 brahma1
61(a) 3 61.35(n) 1 60.32(a) 1
 
3 72C13 39744 1 NM_080498.2 1 NP_536746.1 1
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 178015 1 NM_069681.4 1 NP_502082.1 1
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)
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Paralogsfor SMARCA4 gene (Paralogs according to
1 HomoloGene , 2 Ensembl , and 3 SIMAP , Pseudogenes according to 4 Pseudogene.org Build 68)About This Section Paralogs for SMARCA4 gene SMARCA2 2 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
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Genomic Variantsfor SMARCA4 gene (SNPs/Variants according to the
1 NCBI SNP Database ,
2 Ensembl ,
3 PupaSUITE ,
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
Genomic Data Transcription Related Data Allele Frequencies SNP ID Valid Clinical significance Chr 19 pos Sequence # AA Chg Type More # Allele freq Pop Total sample More
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
QIAGEN SeqTarget long-range PCR primers in human , mouse , rat for resequencing SMARCA4
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Disorders
/ Diseasesfor SMARCA4 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
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
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Publicationsfor SMARCA4 gene (in
PubMed .
Associations of this gene to articles via
1 Entrez Gene ,
2 UniProtKB/Swiss-Prot ,
3 HGNC ,
4 GAD ,
5 PharmGKB ,
6 HMDB ,
7 DrugBank ,
8 UniProtKB/TrEMBL ,
9 Novoseek , and/or
10 fRNAdb )
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
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) 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) 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) 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) Frequent BRG1/SMARCA4-inactivating mutations in human lung cancer cell lines. (PubMed id 18386774) 1 , 2 , 9 Medina P.P....Sanchez-Cespedes M. (2008) 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) 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) Mutations affecting components of the SWI/SNF complex cause Coffin- Siris syndrome. (PubMed id 22426308) 1 , 2 Tsurusaki Y....Matsumoto N. (2012) 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) 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)
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External Searches for SMARCA4 gene
(in PubMed ,
OMIM , and NCBI Bookshelf ) About This Section
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Genome Databases showing SMARCA4 gene
(According to
Entrez Gene ,
HGNC ,
AceView ,
euGenes ,
Ensembl ,
miRBase ,
ECgene ,
Kegg ,
and/or
H-InvDB )
About This Section
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Other Databases showing SMARCA4 gene
(According to HUGE )
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Specialized Databases showing SMARCA4 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
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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
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Productsfor SMARCA4 gene (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
OriGene Antibodies for SMARCA4 OriGene shRNA RFP for SMARCA4 OriGene 29mer shRNA kits in GFP-retroviral vector in human , mouse , rat for SMARCA4 OriGene genome-wide validated SYBR primer pairs in human , mouse , rat for SMARCA4 OriGene Protein Over-expression Lysate for SMARCA4 Browse OriGene Fluorogenic Cell Assay Kits OriGene siRNA for SMARCA4 OriGene 3'-UTR Clone for SMARCA4 OriGene untagged cDNA clones in CMV expression vector in human , mouse , rat for SMARCA4 OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human , mouse , rat for SMARCA4 Browse OriGene GFP tagged cDNA clones in CMV expression vector Browse OriGene MicroRNA Expression Plasmids Browse OriGene basic RS shRNAs Browse OriGene validated miRNA SYBR primer pairs Browse OriGene full length recombinant human proteins expressed in human HEK293 cells OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling OriGene Custom Antibody Services for SMARCA4 OriGene Custom Protein Services for SMARCA4 OriGene Custom Immunoassay Development
QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat SMARCA4 QIAGEN SeqTarget long-range PCR primers in human , mouse , rat for resequencing SMARCA4 QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SMARCA4 QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human , mouse , rat SMARCA4 QIAGEN QuantiFast Probe-based Assays in human , mouse , rat SMARCA4 QIAGEN QuantiTect SYBR Green Assays in human , mouse , rat SMARCA4
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SMARCA4 Proteins, Antibodies, CLIAs, and ELISAs
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ThermoFisher Antibodies for SMARCA4
Vector BioLabs ready-to-use adenovirus/AAV for human , mouse , rat SMARCA4
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