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

SMARCC2 Gene

protein-coding   GIFtS: 63
GCID: GC12M056555

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

  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 C, Member 21 2
     Rsc82
BAF1702 3 5     Chromatin Remodeling Complex BAF170 Subunit2
BRG1-Associated Factor 1702 3     Mammalian Chromatin Remodeling Complex BRG1-Associated Factor 1702
SWI/SNF Complex 170 KDa Subunit2 3     SWI/SNF Complex Subunit SMARCC22
SWI/SNF-Related Matrix-Associated Actin-Dependent Regulator Of Chromatin
Subfamily C Member 22 3
     SWI3-Like Protein2
CRACC22     

External Ids:    HGNC: 111051   Entrez Gene: 66012   Ensembl: ENSG000001396137   OMIM: 6017345   UniProtKB: Q8TAQ23   

Export aliases for SMARCC2 gene to outside databases

Previous GC identifers: GC12M056496 GC12P056713 GC12M056272 GC12M054843 GC12M053594


(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 SMARCC2 Gene:
The protein encoded by this gene is a member of the SWI/SNF family of proteins, whose members display helicase and
ATPase activities and which 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 and contains a predicted leucine zipper motif typical of many transcription factors. Alternatively
spliced transcript variants encoding different isoforms have been found for this gene. (provided by RefSeq, Jul
2008)

GeneCards Summary for SMARCC2 Gene: 
SMARCC2 (SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2) is a protein-coding gene. Diseases associated with SMARCC2 include triple-a syndrome, and williams 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 chromatin binding. An important paralog of this gene is SMARCC1.

UniProtKB/Swiss-Prot: SMRC2_HUMAN, Q8TAQ2
Function: Involved in transcriptional activation and repression of select genes by chromatin remodeling
(alteration of DNA-nucleosome topology). Can stimulate the ATPase activity of the catalytic subunit of these
complexes. May be required for CoREST dependent repression of neuronal specific gene promoters in non-neuronal
cells. 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 SMARCC2 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_000012.11  NT_029419.12  NC_018923.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the SMARCC2 gene promoter:
         c-Fos   AP-1   p300   c-Jun   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSMARCC2 promoter sequence
   Search SABiosciences Chromatin IP Primers for SMARCC2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SMARCC2


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

Entrez Gene cytogenetic band: 12q13.2   Ensembl cytogenetic band:  12q13.2   HGNC cytogenetic band: 12q13.2

SMARCC2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SMARCC2 gene location

GeneLoc information about chromosome 12         GeneLoc Exon Structure

GeneLoc location for GC12M056555:  view genomic region     (about GC identifiers)

Start:
56,555,636 bp from pter      End:
56,583,351 bp from pter
Size:
27,716 bases      Orientation:
minus 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: SMRC2_HUMAN, Q8TAQ2 (See protein sequence)
Recommended Name: SWI/SNF complex subunit SMARCC2  
Size: 1214 amino acids; 132879 Da
Subunit: Component of 6 multiprotein chromatin-remodeling complexes: Swi/Snf-A (BAF), Swi/Snf-B (PBAF), Brm,
Brg1(I), WINAC and Brg1(II). Each of the five complexes contains a catalytic subunit (either SMARCA4 or SMARCA2),
and at least SMARCE1, ACTL6A/BAF53A or ACTL6B/BAF53B, SMARCC1 and SMARCB1. Other subunits specific to each of the
complexes may also be present. Component of the BAF complex, which includes at least actin (ACTB), ARID1A,
ARID1B/BAF250, SMARCA2, SMARCA4/BRG1, 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. May also interact with the SIN3A histone deacetylase transcription repressor complex
in conjunction with SMARCA2 and SMARCA4. 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 SMARD1. 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
(By similarity)
Subcellular location: Nucleus
Sequence caution: Sequence=BAD92243.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;
Secondary accessions: F8VTJ5 Q59GV3 Q92923 Q96E12 Q96GY4
Alternative splicing: 3 isoforms:  Q8TAQ2-1   Q8TAQ2-2   Q8TAQ2-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for SMARCC2: NX_Q8TAQ2

Explore proteomics data for SMARCC2 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q8TAQ2

  • SMARCC2 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    SMARCC2 Protein Expression
    REFSEQ proteins (3 alternative transcripts): 
    NP_001123892.1  NP_003066.2  NP_620706.1  

    ENSEMBL proteins: 
     ENSP00000377591   ENSP00000449396   ENSP00000302919   ENSP00000447680   ENSP00000267064  
     ENSP00000449429  

    Human Recombinant Protein Products for SMARCC2: 
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    Novus Biologicals SMARCC2 Lysates
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    Cloud-Clone Corp. Proteins for SMARCC2 

    Gene Ontology (GO): 5/6 cellular component terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005730NOT nucleolus IDA--
    GO:0016514SWI/SNF complex IDA10078207
    GO:0017053colocalizes with transcriptional repressor complex IPI12192000
    GO:0071564npBAF complex ISS--

    SMARCC2 for ontologies           About GeneDecksing



    SMARCC2 Antibody Products: 
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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    5/7 InterPro protein domains (see all 7):
     IPR011991 WHTH_DNA-bd_dom
     IPR017884 SANT_dom
     IPR000953 Chromo_domain/shadow
     IPR001005 SANT/Myb
     IPR009057 Homeodomain-like

    Graphical View of Domain Structure for InterPro Entry Q8TAQ2

    ProtoNet protein and cluster: Q8TAQ2

    4 Blocks protein domains:
    IPB000953 Chromo domain
    IPB001005 Myb DNA-binding domain
    IPB001357 BRCT domain
    IPB007526 SWIRM


    UniProtKB/Swiss-Prot: SMRC2_HUMAN, Q8TAQ2
    Similarity: Belongs to the SMARCC family
    Similarity: Contains 1 SANT domain
    Similarity: Contains 1 SWIRM domain


    SMARCC2 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: SMRC2_HUMAN, Q8TAQ2
    Function: Involved in transcriptional activation and repression of select genes by chromatin remodeling
    (alteration of DNA-nucleosome topology). Can stimulate the ATPase activity of the catalytic subunit of these
    complexes. May be required for CoREST dependent repression of neuronal specific gene promoters in non-neuronal
    cells. 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 SMARCC2:
    general transcriptional activator S cerevisiae SWI/SNF related protein,matrix associated,actin-dependent regulator
    of chromatin,subfamily C,member 2,component of the chromatin remodeling complex,ubiquitously expressed

         Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003677DNA binding IEA--
    GO:0003682chromatin binding IEA--
    GO:0003713transcription coactivator activity NAS8804307
    GO:0005515protein binding IPI12192000
         
    SMARCC2 for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for SMARCC2:
     Decreased melanin production  Decreased viability 

         6 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Smarcc2):
     cellular  embryogenesis  growth/size  mortality/aging  nervous system 
     normal 

    SMARCC2 for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for SMARCC2 
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for SMARCC2 
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    miRNA
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    SwitchGear 3'UTR luciferase reporter plasmidSMARCC2 3' UTR sequence
    Inhib. RNA
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SMARCC2


    (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 SMARCC2 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
    3Prostate Cancer
    Prostate Cancer0.32
    4TNF-alpha/NF-kB Signaling Pathway
    TNF-alpha/NF-kB Signaling Pathway
    5Glucocorticoid receptor regulatory network
    Glucocorticoid receptor regulatory network

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    2 EMD Millipore Pathways for SMARCC2
        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 SMARCC2
        AMPK Enzyme Complex Pathway
    BRCA1 Pathway
    Glucocorticoid Receptor Signaling
    Chromatin Remodeling

    1 Cell Signaling Technology (CST) Pathway for SMARCC2
        Chromatin Regulation / Acetylation

    2 GeneGo (Thomson Reuters) Pathways for SMARCC2
        Transcription Ligand-dependent activation of the ESR1/SP pathway
    Development Ligand-dependent activation of the ESR1/AP-1 pathway

    3 BioSystems Pathways for SMARCC2
        TNF-alpha/NF-kB Signaling Pathway
    Prostate Cancer
    Glucocorticoid receptor regulatory network



    SMARCC2 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for SMARCC2

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

    5/880 Interacting proteins for SMARCC2 (Q8TAQ22, 3 ENSP000002670644) via UniProtKB, MINT, STRING, and/or I2D (see all 880)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SMARCB1Q128242, 3, ENSP000002631214MINT-7945693 MINT-6614004 MINT-7947479 I2D: score=6 STRING: ENSP00000263121
    ARID1AO144972, 3, ENSP000003204854MINT-7945693 MINT-7947479 I2D: score=3 STRING: ENSP00000320485
    HDAC1Q135472, 3, ENSP000003626494MINT-7945693 MINT-7947479 I2D: score=3 STRING: ENSP00000362649
    HDAC2Q927692, 3, ENSP000003813314MINT-7945693 MINT-7947479 I2D: score=3 STRING: ENSP00000381331
    RCOR1Q9UKL02, 3, ENSP000002622414MINT-7945693 MINT-7947479 I2D: score=3 STRING: ENSP00000262241
    About this table

    Gene Ontology (GO): 5/7 biological process terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006337nucleosome disassembly IDA8895581
    GO:0006338chromatin remodeling IDA10078207
    GO:0006351transcription, DNA-dependent IEA--
    GO:0006357regulation of transcription from RNA polymerase II promoter NAS8804307
    GO:0007399nervous system development IEA--

    SMARCC2 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
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for SMARCC2 (SMRC2)

    Search CenterWatch for drugs/clinical trials and news about SMARCC2 / SMRC2

    (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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    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 SMARCC2 gene (3 alternative transcripts): 
    NM_001130420.1  NM_003075.3  NM_139067.2  

    Unigene Cluster for SMARCC2:

    SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2
    Hs.236030  [show with all ESTs]
    Unigene Representative Sequence: NM_003075
    15 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000394023(uc001skd.3 uc001ska.3 uc001skb.3 uc001skc.3 uc010sqf.2)
    ENST00000550164 ENST00000347471 ENST00000552674 ENST00000267064 ENST00000549209
    ENST00000548130 ENST00000552931 ENST00000552566 ENST00000549757 ENST00000550859
    ENST00000550519 ENST00000550150 ENST00000552627 ENST00000547356
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    Additional mRNA sequence: 

    AB209006.1 AB209293.1 AK025128.1 AK293896.1 AK315153.1 BC009067.1 BC013045.1 BC026222.2 
    BC128599.1 BT009924.1 U66616.1 

    24/32 DOTS entries (see all 32):

    DT.95329800  DT.95147655  DT.100825006  DT.91697062  DT.100825010  DT.121141352  DT.100825009  DT.92449194 
    DT.100825011  DT.121141059  DT.121141032  DT.92449199  DT.95367585  DT.95367593  DT.121141224  DT.101981170 
    DT.95367587  DT.92449195  DT.121141399  DT.121141579  DT.97805383  DT.99951373  DT.95367595  DT.97783975 

    24/512 AceView cDNA sequences (see all 512):

    BU736948 BG576320 AI083535 AW404379 BQ548814 BM423624 BM983546 BM888051 
    BE218565 AA989325 AA776244 BE293316 BQ949071 AA368292 AK025128 BQ581675 
    BQ645836 CB134373 AA740839 BQ438093 BU788965 BU186524 BU539423 BQ267382 

    GeneLoc Exon Structure

    5/11 Alternative Splicing Database (ASD) splice patterns (SP) for SMARCC2 (see all 11)    About this scheme

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

    ExUns: 16c · 16d ^ 17 ^ 18 ^ 19 ^ 20a · 20b ^ 21 ^ 22 ^ 23 ^ 24a · 24b ^ 25 ^ 26 ^ 27a · 27b ^ 28 ^ 29 ^ 30
    SP1:                                      -                                                                           
    SP2:                                      -                                                                           
    SP3:                                      -                                                                 -         
    SP4:                    -                 -                                                                           
    SP5:                                                                                                                  


    ECgene alternative splicing isoforms for SMARCC2

    (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

    SMARCC2 expression in normal human tissues (normalized intensities)      SMARCC2 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CATTTTTATA
    SMARCC2 Expression
    About this image


    SMARCC2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/35 selected tissues (see all 35) fully expand
     
     Epithelium
             vagina ; squamous epithelial cells   
     
     Uterus
             uterus, post-menopause ; glandular cells   
     
     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   
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Cerebral Cortex

    See SMARCC2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for SMARCC2

    SOURCE GeneReport for Unigene cluster: Hs.236030

    UniProtKB/Swiss-Prot: SMRC2_HUMAN, Q8TAQ2
    Tissue specificity: Ubiquitously expressed

        SABiosciences Expression via Pathway-Focused PCR Array including SMARCC2: 
              Polycomb & Trithorax Complexes in human mouse rat

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SMARCC2

    (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 SMARCC2 gene from 7/14 species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Smarcc21 , 5 SWI/SNF related, matrix associated, actin dependent more1, 5 90.53(n)1
    96.81(a)1
      10 (76.59 cM)5
    680941  NM_001114096.11  NP_001107568.11 
     1284592365 
    lizard
    (Anolis carolinensis)
    Reptilia SMARCC26
    SWI/SNF related, matrix associated, actin dependen...
    77(a)
    1 ↔ 1
    2(93776710-93803205)
    African clawed frog
    (Xenopus laevis)
    Amphibia BC060337.12   -- 79.72(n)    BC060337.1 
    zebrafish
    (Danio rerio)
    Actinopterygii smarcc21 SWI/SNF related, matrix associated, actin dependent more 71.35(n)
    79.05(a)
      567476  XM_690772.3  XP_695864.2 
    fruit fly
    (Drosophila melanogaster)
    Insecta mor1 , 3 chromatin modeling general RNA
    polymerase II transcription more3
    moira1
    48(a)3
    54.4(n)1
    50.23(a)1
      3 89A113
    419421  NM_001202301.11  NP_001189230.11 
    worm
    (Caenorhabditis elegans)
    Secernentea swsn-11 Protein SWSN-1 49.6(n)
    43.51(a)
      180324  NM_075505.3  NP_507906.1 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes SWI3(YJL176C)4
    SWI31
    Subunit of the SWI/SNF chromatin remodeling complex, more4
    Swi3p1
    44.46(n)1
    33.21(a)1
      10(94530-92053)4
    8532641, 4  NP_012359.11, 4 


    ENSEMBL Gene Tree for SMARCC2 (if available)
    TreeFam Gene Tree for SMARCC2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for SMARCC2 gene
    SMARCC12  
    2 SIMAP similar genes for SMARCC2 using alignment to 3 protein entries:     SMRC2_HUMAN (see all proteins):
    DKFZp313D0632    SMARCC1

    SMARCC2 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

    10/646 SNPs in SMARCC2 are shown (see all 646)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 12 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1823354801,2
    --56419285(+) GCGTTC/TTGGGA 3 -- int10--------
    rs1875987401,2
    --56556056(+) AACGCA/CGCTGT 3 -- ut310--------
    rs748368281,2
    --56556167(+) ATTTAA/TAAAAA 3 -- ut310--------
    rs740920051,2
    C,F--56556263(+) CATGGG/CGACAT 3 -- ut311Minor allele frequency- C:0.50WA 2
    rs341028591,2
    C,F,H--56556389(+) GCAGAG/ATTGAG 3 -- ut317Minor allele frequency- A:0.01NS NA 818
    rs784514851,2
    C--56556467(+) CCTCAC/TCTGGG 3 -- ut310--------
    rs1179116251,2
    F--56556575(+) GCTTTA/GAAAAA 3 -- ut311Minor allele frequency- G:0.01NA 120
    rs766185531,2
    C,F--56556633(+) GTGCCT/GTCCAG 3 -- ut311Minor allele frequency- G:0.03EA 120
    rs1510157521,2
    C--56556731(+) TTAGGG/TTTTCC 3 -- ut310--------
    rs764000831,2
    C--56556817(+) AATCAC/TTGGCT 3 -- ut310--------

    HapMap Linkage Disequilibrium report for SMARCC2 (56555636 - 56583351 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for SMARCC2:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv720CNV Insertion18451855
    nsv482992CNV Complex15286789


    Human Gene Mutation Database (HGMD): SMARCC2
    SABiosciences Cancer Mutation PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 601734    OMIM disorders: --

    11 diseases for SMARCC2:    About MalaCards
    triple-a syndrome    williams syndrome    fanconi's anemia    conjunctivitis
    kaposi's sarcoma    anemia    sarcoma    lung cancer
    neuronitis    breast cancer    leukemia


    SMARCC2 for disorders           About GeneDecksing


    Export disorders for SMARCC2 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 SMARCC2 gene, integrated from 9 sources (see all 107):
    (articles sorted by number of sources associating them with SMARCC2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Diversity and specialization of mammalian SWI/SNF complexes. (PubMed id 8804307)1, 2, 3 Wang W.... Crabtree G.R. (1996)
    2. 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)
    3. REST repression of neuronal genes requires components of the hSWI.SNF complex. (PubMed id 12192000)1, 2, 9 Battaglioli E.... Mandel G. (2002)
    4. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)1, 2 Olsen J.V....Mann M. (2006)
    5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    6. Purification and characterization of mSin3A-containing Brg1 and hBrm chromatin remodeling complexes. (PubMed id 11238380)1, 2 Sif S.... Kingston R.E. (2001)
    7. Functional selectivity of recombinant mammalian SWI/SNF subunits. (PubMed id 11018012)1, 2 Kadam S....Emerson B.M. (2000)
    8. Reconstitution of a core chromatin remodeling complex from SWI/SNF subunits. (PubMed id 10078207)1, 2 Phelan M.L.... Kingston R.E. (1999)
    9. Five SWI/SNF-related, matrix-associated, actin-dependent regulator of chromatin (SMARC) genes are dispersed in the human genome. (PubMed id 9693044)1, 3 Ring H.Z....Francke U. (1998)
    10. Identification of the hypoxia-inducible factor 2a nucl ear interactome in melanoma cells reveals master proteins involved in melanoma d evelopment. (PubMed id 23275444)1 Steunou A.L....Nieto L. (2013)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    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: 6601 HGNC: 11105 AceView: SMARCC2 Ensembl:ENSG00000139613 euGenes: HUgn6601
    ECgene: SMARCC2 H-InvDB: SMARCC2

    (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 SMARCC2 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for SMARCC2 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 SMARCC2 gene:
    Search GeneIP for patents involving SMARCC2

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



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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 3 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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