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SMARCB1 Gene

protein-coding   GIFtS: 68

GC22P022453
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
(Previous symbol: SNF5L1)
Services    

Aliases &
Descriptions
for SMARCB1

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc , and/or 7Ensembl, 8miRBase)
About This Section
Aliases
BAF47 1, 2, 3
INI1 2, 3, 5
Ini1 1
RDT 1, 2, 5
SNF5 2, 5
SNF5L1 2, 3
Sfh1p 1, 2
Snr1 1, 2
hSNF5 3
hSNFS 1, 2
Descriptions
Integrase interactor 1 protein 3
SWI/SNF related, matrix associated, actin dependent
regulator of chromatin, subfamily b, member 1 2
integrase interactor 1 2
malignant rhabdoid tumor suppressor 2
sucrose nonfermenting, yeast, homolog-like 1 2
External Ids
HGNC: 111031
Entrez Gene: 65982
UniProtKB: Q128243
Ensembl: ENSG000000999567
Search outside databases for aliases for SMARCB1 gene

Previous GC identifer: GC22P020825

Summaries
for SMARCB1

(According to Entrez Gene, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

 EntrezGene summary for SMARCB1:
The protein encoded by this gene is part of a complex that relieves repressive chromatin
structures, allowing the transcriptional machinery to access its targets more effectively. The
encoded nuclear protein may also bind to and enhance the DNA joining activity of HIV-1 integrase.
This gene has been found to be a tumor suppressor, and mutations in it have been associated with
malignant rhabdoid tumors. Two transcript variants encoding different isoforms have been found for
this gene. [provided by RefSeq]

UniProtKB/Swiss-Prot: SNF5_HUMAN, Q12824
Function: Core component of the BAF (hSWI/SNF) complex. This ATP-dependent chromatin-remodeling
complex plays important roles in cell proliferation and differentiation, in cellular antiviral
activities and inhibition of tumor formation. The BAF complex is able to create a stable, altered
form of chromatin that constrains fewer negative supercoils than normal. This change in
supercoiling would be due to the conversion of up to one-half of the nucleosomes on
polynucleosomal arrays into asymmetric structures, termed altosomes, each composed of 2 histones
octamers. Stimulates in vitro the remodeling activity of SMARCA4/BRG1. Involved in activation of
CSF1 promoter. Plays a key role in cell-cycle control and causes cell cycle arrest in G0/G1. 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 (By similarity)

Gene Wiki entry for SMARCB1

Genomic Location
for SMARCB1

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to UCSC and Ensembl, Transcription factor binding sites according to SABiosciences)
About This Section

 Genomic View:
UCSC Golden Path with GeneCards custom track

 Transcription factor binding sites upstream to the SMARCB1 gene  

Entrez Gene cytogenetic band: 22q11.23|22q11   Ensembl cytogenetic band:  22q11.23   HGNC cytogenetic band: 22q11.23

SMARCB1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)

GeneLoc gene densities for chromosome 22         GeneLoc Exon Structure

GeneLoc location for GC22P022453:     (about GC identifiers)

Start:
 22,459,150 bp from pter
End:
 22,506,705 bp from pter
Size:
 47,556 bases
Orientation:
 plus strand
RefSeq DNA sequence:
NC_000022.9  NT_011520.11  

Proteins
for SMARCB1

(According to 1UniProtKB, and/or Ensembl, Phosphorylation sites according to 2Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Enzo Life Sciences, Abnova, OriGene and/or, Abcam,
Biochemical Assays by Invitrogen, Millipore, R&D Systems, Cell Signaling Technology, and/or Enzo Life Sciences, Ontologies according to Gene Ontology Consortium 01 Apr 2009 and Entrez Gene, Antibodies by Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, Abcam, Abnova, and/or Novus Biologicals)
About This Section

 UniProtKB/Swiss-Prot: SNF5_HUMAN, Q12824 (See protein sequence)
Recommended Name: SWI/SNF-related matrix-associated actin-dependent regulator of chromatin
subfamily B member 1  
Size: 385 amino acids; 44141 Da
Subunit: Component of the BAF (hSWI/SNF) 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. Binds directly with
SMARCC1/BAF155 and SMARCC2/BAF170, and these three proteins bind SMARCA4/BRG1. Component of the
WINAC complex, at least composed of SMARCA2, SMARCA4, SMARCB1, SMARCC1, SMARCC2, SMARCD1, SMARCE1,
ACTL6A, BAZ1B/WSTF, ARID1A, SUPT16H, CHAF1A and TOP2B. Binds to double-stranded DNA. Interacts
with MYK and MAEL. Interacts with PPP1R15A. Binds tightly to the human immunodeficiency virus-type
1 (HIV-1) integrase in vitro and stimulates its DNA-joining activity. Interacts with human
papillomavirus 18 E1 protein to stimulates its viral replication. Interacts with Epstein-Barr
virus protein EBNA-2
Subcellular location: Nucleus
Secondary accessions: O75784 O95474 Q38GA1 Q76N08 Q9UBH2
Alternative splicing: 2 isoforms:  Q12824-1   Q12824-2   

Post-translational modifications:

  • Phosphorylated upon DNA damage, probably by ATM or ATR1
  • View phosphorylation sites using PhosphoSite2


    • REFSEQ proteins (2 alternative transcripts): 
    NP_001007469.1  NP_003064.2  


    ENSEMBL proteins: 
    ENSP00000263121 ENSP00000340883 ENSP00000383984 ENSP00000385226 


    Human Recombinant Proteins 
    Browse Drug Discovery Central at Invitrogen for human recombinant proteins
    Browse Purified and Recombinant Proteins at Millipore
    Browse Human Recombinant Proteins at Sigma-Aldrich  
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Recombinant Proteins from Abcam (SNF5)
    Human Recombinant Proteins from Abnova (SMARCB1)
                    Browse Origene for full length recombinant human proteins expressed in human HEK293 cells 

    4 Gene Ontology (GO) cellular component terms (links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000228 nuclear chromosome IEA--
    GO:0005634 nucleus IDA11430827
    GO:0005654 nucleoplasm TAS7801128
    GO:0016514 SWI/SNF complex IDA11078522
    About this table

    Antibodies for SMARCB1: 
    Browse Antibodies Central at Invitrogen
    Browse Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Sigma-Aldrich Antibody Arrays and Antibodies for SMARCB1
    Browse R&D Systems for Antibodies
    Antibodies from Abcam (SNF5), each with their AbpromiseSM
    Monoclonal and Polyclonal Antibodies from Abnova (SMARCB1)
    Novus Biologicals Antibodies for SMARCB1

    Assays for SMARCB1: 
    Browse Invitrogen for biochemical assays
    Browse Kits and Assays available from Millipore
    Browse R&D Systems for biochemical assays
    Browse biochemical assays available from Enzo Life Sciences

    Protein Domains/
    Families
    for SMARCB1

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    2 InterPro domains/families:
     IPR017393 SWI_SNF_chromatin_remodel_cplx
     IPR006939 SNF5


       GeneDecks  SMARCB1 for the domains selected above  
    About GeneDecksing

    Graphical View of Domain Structure for InterPro Entry Q12824

    ProtoNet protein and cluster: Q12824

    1 Blocks protein family: IPB006939 SNF5/SMARCB1/INI1

    UniProtKB/Swiss-Prot: SNF5_HUMAN, Q12824
    Similarity: Belongs to the SNF5 family

    Gene Function
    for SMARCB1

    (According to MGI Jun 06 2009, UniProtKB, IUBMB,and/or Genatlas,
    shRNA from OriGene, Sigma-Aldrich, RNAi from Sigma-Aldrich,
    RNAi Products, Clones, and Q-PCR Products from Invitrogen, Millipore, OriGene, and/or Abnova, siRNAs from Applied Biosystems, SYBR primers from OriGene, Cell-based Assays from Millipore, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
    About This Section
    Inhib.
    RNA:    		Invitrogen RNAi Products for gene knock-down (SMARCB1)
    Browse for Gene Knock-down Tools from Millipore
    Abnova Chimera RNAi Products for Gene knock-down (SMARCB1)
                   OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 2): NM_003073

                  Applied Biosystems Silencer® siRNAs for SMARCB1

                  Sigma-Aldrich siRNA and siRNA Panels for SMARCB1  
                         Sigma-Aldrich shRNA for SMARCB1  
                         Explore Sigma-Aldrich super-pooled esiRNAs  

    Clones:Invitrogen Clones for SMARCB1
    Browse Clones for the Expression of Recombinant Proteins Available from Millipore
                   OriGene GFP tagged cDNA clones in CMV expression vector (see all 2): NM_001007468
                                     Myc/DDK tagged cDNA clones in CMV expression vector (see all 2): NM_001007468
                                     untagged cDNA clones in CMV expression vector (see all 2): NM_001007468 

    Primers: Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers
                  OriGene genome-wide validated SYBR primer pairs: NM_003073

    UniProtKB/Swiss-Prot: SNF5_HUMAN, Q12824
    Function: Core component of the BAF (hSWI/SNF) complex. This ATP-dependent chromatin-remodeling
    complex plays important roles in cell proliferation and differentiation, in cellular antiviral
    activities and inhibition of tumor formation. The BAF complex is able to create a stable, altered
    form of chromatin that constrains fewer negative supercoils than normal. This change in
    supercoiling would be due to the conversion of up to one-half of the nucleosomes on
    polynucleosomal arrays into asymmetric structures, termed altosomes, each composed of 2 histones
    octamers. Stimulates in vitro the remodeling activity of SMARCA4/BRG1. Involved in activation of
    CSF1 promoter. Plays a key role in cell-cycle control and causes cell cycle arrest in G0/G1. 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 (By similarity)

    Genatlas biochemistry entry for SMARCB1:
    general transcriptional activator,S cerevisiae SWI/SNF2 related protein,matrix
    associated,actin-dependent regulator of chromatin,subfamily B,member 1,component of the chromatin
    remodeling complex,preferentially expressed in muscle and pancreas,mutated in atypical teratoid
    and rhabdoid tumors,tumor suppressor gene (see TSG22D),frequently deleted in chronic myeloid
    leukemia

    14 MGI mutant phenotypes (inferred from 7 alleles) (MGI details for Smarcb1):

    cellulardigestive/alimentaryembryogenesisgrowth/size
    hematopoietic systemhomeostasis/metabolismimmune systemlethality-prenatal/perinatallife span-post-weaning/aging
    liver/biliary systemnervous systemtumorigenesisvision/eye

    1 Gene Ontology (GO) molecular function term (links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515 protein binding IPI15985610
    About this table

    Pathways & Interactions
    for SMARCB1

    (Pathways according to Invitrogen (maps by GeneGo), Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB,
    Sets of similar genes according to GeneDecks, Proteins Network according to SABiosciences, Interactions according to 1UniProtKB, 2MINT, and/or 3STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
    About This Section


    2 Millipore Pathways for SMARCB1
     Development Ligand-dependent activation of the ESR1/AP-1 pathway
     Transcription Ligand-dependent activation of the ESR1/SP pathway

       GeneDecks  SMARCB1 for the pathways selected above  
    About GeneDecksing

     Gene Network CentralTM Interacting Genes and Proteins Network for  SMARCB1 


    5/65 Interacting proteins for SMARCB1 (ENSP000003408833 Q128241, 2) via UniProtKB, MINT, and/or STRING (see all 65 )
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SMARCA4P515322STRING (score=.999) MINT-6614004
    SMARCC2Q8TAQ22STRING (score=.998) MINT-6614004
    ARID2Q68CP91EBI-358419, EBI-637818
    ESR1P033722MINT-6614004
    RELBQ012012MINT-49008
    About this table

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006338 chromatin remodeling IEA--
    GO:0006350 transcription IEA--
    GO:0006357 regulation of transcription from RNA polymerase II promoter TAS7801128
    GO:0015074 DNA integration TAS7801128
    GO:0044419 interspecies interaction between organisms IEA--
    About this table

    Drugs & Compounds
    for SMARCB1

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
    About This Section

    Browse drugs & compounds from Enzo Life Sciences
    Browse Small Molecules at Sigma-Aldrich

    Browse Tocris compounds for SMARCB1

    Transcripts
    for SMARCB1

    (GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 219 Homo sapiens; Jun 2 2009) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView,
    non coding RNAs according to RNAdb,
    ESTs according to GeneTide,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from Invitrogen, Millipore, and/or Abnova,
    siRNAs from Applied Biosystems, Sigma-Aldrich,
    shRNA from Sigma-Aldrich, OriGene,
    Tagged/untagged cDNA clones from OriGene,
    Expression Assays from Applied Biosystems)
    About This Section
    Inhib.
    RNA:    		Invitrogen RNAi Products for gene knock-down (SMARCB1)
    Browse for Gene Knock-down Tools from Millipore
    Abnova Chimera RNAi Products for Gene knock-down (SMARCB1)
                   OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 2): NM_003073

                  Sigma-Aldrich siRNA and siRNA Panels for SMARCB1  
                         Sigma-Aldrich shRNA for SMARCB1  
                         Explore Sigma-Aldrich super-pooled esiRNAs  

    Applied Biosystems Silencer® siRNAs: 

    NM_001007468  NM_003073  

    REFSEQ mRNAs for SMARCB1 gene (2 alternative transcripts): 

    NM_001007468.1   NM_003073.3   

    Applied Biosystems TaqMan ® Gene Expression Assays: 

    NM_001007468  NM_003073  

                   OriGene GFP tagged cDNA clones in CMV expression vector (see all 2): NM_001007468
                                     Myc/DDK tagged cDNA clones in CMV expression vector (see all 2): NM_001007468
                                     untagged cDNA clones in CMV expression vector (see all 2): NM_001007468 

    Additional cDNA sequence: 

    AB017523.1 AJ011737.1 AJ011738.1 AK021419.1 AK024025.1 AK299411.1 AK303620.1 AL389878.1 
    AL389881.1 AY207470.1 AY207471.1 AY562997.1 BC117114.1 BC143667.1 CR456581.1 CR590397.1 
    CR590517.1 CR594771.1 CR595672.1 CR599485.1 CR600743.1 CR600940.1 CR601509.1 CR617530.1 
    CR619336.1 CR619411.1 CR620956.1 CR621083.1 CR621090.1 CR621760.1 CR624865.1 CR625181.1 
    CR625707.1 CR626732.1 

    24/25 DOTS entries (see all 25 ):

    DT.448910  DT.100802211  DT.100883928  DT.92454292  DT.95260683  DT.100883952  DT.100883943  DT.100802041 
    DT.100883949  DT.100883931  DT.100883944  DT.100667649  DT.100883927  DT.100883941  DT.100034945  DT.100044384 
    DT.100665611  DT.100883937  DT.115675  DT.120671557  DT.120671560  DT.91740860  DT.95254835  DT.100801439 

    24/454 AceView cDNA sequences (see all 454 ):

    AI241194 BQ018870 BM984887 AY207472 CR595672 BX424666 BM555552 AI659004 
    AI271563 CR626732 AI537937 CR601509 R53013 BE281546 BU631089 CR620956 
    AI340126 AY207470 BE407182 BQ897135 AU143041 CR617530 AI680381 BQ066660 

    highest scoring ESTs for SMARCB1:

    AA026808 AA069183 AA121845 AA130592 AA446018 AA480306 AA481681 AA557620 AA629228 AA706978 

    Unigene Cluster for SMARCB1:

    SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1
    Hs.534350  [show with all ESTs]
    Unigene Representative Sequence: NM_003073


    GeneLoc Exon Structure

    5/7 Alternative Splicing Database (ASD) splice patterns (SP) for SMARCB1 (see all 7 )

    ExUns: 1a · 1b ^ 2a · 2b ^ 3a · 3b ^ 4a · 4b · 4c ^ 5 ^ 6a · 6b ^ 7a · 7b ^ 8 ^ 9
    SP1:                    -                       -     -           -                                 
    SP2:                    -                             -           -                                 
    SP3:                                            -     -           -                                 
    SP4:                                                  -                                             
    SP5:                    -                                                                           

    About this scheme

    ECgene alternative splicing isoforms for SMARCB1

    4 Ensembl transcripts including schematic representations:
    ENST00000263121  ENST00000344921  ENST00000407422  ENST00000407082  

    Expression
    for SMARCB1

    (Experimental results according to 1GeneNote and GNF BioGPS,
    probe sets-to-genes annotations according to 2GeneAnnot , 3GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 219 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
    Expression Assays from Applied Biosystems )
    About This Section

    SMARCB1 expression in normal and diseased human tissues

     Applied Biosystems TaqMan ® Gene Expression Assays for SMARCB1

    1 / 2 / 3

    5 probe-sets matching SMARCB1 gene


    		Affymetrix
    probe-set    		 Array  GeneAnnot data GeneNote data GeneTide data
    # genes Sensitivity Specificity Correlation Length Gb_Accession Consensus Uniqueness Score Rank
    40416_at2, 3 U95-A 1 0.88 1.00 1.00 1.00 U04847 0.80 1.00 0.91 1

    		212167_s_at2, 3 U133-A 1 1.00 1.00 -- -- AK021419 0.80 1.00 0.91 1

    		206532_at*2, 3 U133-A 1 1.00 1.00 -- -- NM_003073 0.60 1.00 0.82 1

    		212167_s_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --

    		206532_at*2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --
    GeneDecks  SMARCB1 for binary patterns associated with the probe-sets selected above  
    About GeneDecksing
    About this table    
    Data from (Publications) and GNF BioGPS
        About these images
    About these images

    CGAP SAGE TAG: --

    SOURCE GeneReport for Unigene cluster: Hs.534350

    Expression variation in blood from EXPOLDB for SMARCB1

    Orthologs
    for SMARCB1

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD and/or 5MGI Jun 06 2009, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
    About This Section
    Orthologs for SMARCB1 gene from 5/15 species (see all 15 )
    Organism Gene Locus Description Human
    Similarity    		 NCBI accessions
    dog
    (Canis familiaris)    		 SMARCB11   -- SWI/SNF related, matrix associated, actin dependent more 93.51(n)
    99.74(a)    		 486407  XM_852136.1  XP_857229.1 
    chimpanzee
    (Pan troglodytes)    		 SMARCB11   -- SWI/SNF related, matrix associated, actin dependent more 99.83(n)
    100(a)    		 458702  XM_001169712.1  XP_001169712.1 
    cow
    (Bos taurus)    		 SMARCB11   -- SWI/SNF related, matrix associated, actin dependent more 92.55(n)
    99.74(a)    		 537412  NM_001040557.1  NP_001035647.1 
    rat
    (Rattus norvegicus)    		 Smarcb11   -- SWI/SNF related, matrix associated, actin dependent more 91.4(n)
    100(a)    		 361825  NM_001025728.1  NP_001020899.1 
    mouse
    (Mus musculus)    		 Smarcb11, 5 105
    		 SWI/SNF related, matrix associated, actin dependent more1, 5 91.26(n)1
    100(a)1    		 205871  NM_011418.11  NP_035548.11 
     AB0173435  AB0173445  (see all 26)
    About this table        Species with no ortholog for SMARCB1

    ENSEMBL Gene Tree for SMARCB1

    Paralogs
    for SMARCB1

    (Paralogs according to 1HomoloGene
    and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
    About This Section

    		  --

    SNPs/Variants
    for SMARCB1

    (According to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Genotyping Reagents from Applied Biosystems)
    About This Section


    10/635 NCBI SNPs in SMARCB1 are shown (see all 635 )
    (Click for Applied Biosystems TaqMan ® Genotyping Assay)  (see all 325)
    ABGenomic DataTranscription DataAllele Frequencies
    SNP IDValidChr 22 posSequenceRecsAA
    Chg    		TypeMoreRecsAllele
    freq    		PopTotal
    sample    		More
    ------------
    rs20733871,2
    		A,C,F,H,O22459005(+) CCTCAG/TTGGCT 2 -- ng51 tfbs313Minor allele frequency- T:0.28EA MN EU WA NS 2636
    rs57600151,2
    		A,C,F,H22458380(+) gagttG/Aggatt 2 -- ng51 tfbs314Minor allele frequency- A:0.31EU EA WA NS 774
    rs60038781,2
    		C,F,H22458705(+) CCTTTG/TAACAT 2 -- ng51 tfbs39Minor allele frequency- T:0.02EU EA WA NS 548
    rs110902851,2
    		A,C,F22459240(+) CCCGGC/TCCGGT 2 -- ut51 ese37Minor allele frequency- T:0.13MN EA NS 544
    --
    rs60038791,2
    		C,F22458872(+) CCAAAG/ACATGC 2 -- ng515Minor allele frequency- A:0.04NS 188
    --
    rs57600121,2
    		A,C22457388(+) gagccA/Cagatc 2 -- ng510--------
    --
    rs117048101,2
    		C,F22459129(+) TGAGCG/TGCGGC 2 -- ng515Minor allele frequency- T:0.09NS 188
    --
    rs170037771,2
    		C,F22458717(+) GCCAAG/ACCTCA 2 -- ng517Minor allele frequency- A:0.01MN EA NS 538
    --
    rs170037831,2
    		C,F22459038(+) CTACAC/TCACGA 2 -- ng515Minor allele frequency- T:0.02NS 188
    --
    rs60038801,2
    		C,F22458930(+) CACTTC/TGTTGC 2 -- ng51 tfbs36Minor allele frequency- T:0.02NS EA 366
    About this table

    HapMap Linkage Disequilibrium images for SMARCB1 (up to first 250kb)

    Disorders & Mutations
    for SMARCB1

    (in which this Gene is Involved, According to OMIM, UniProtKB, Novoseek, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, HGMD, GAD, HuGE Navigator, BCGD, and/or TGDB.)
    About This Section

    		 OMIM: 601607

    UniProtKB/Swiss-Prot: SNF5_HUMAN, Q12824

  • Defects in SMARCB1 are a cause of rhabdoid tumor (RDT) [MIM:609322]; also called malignant
    rhabdoid tumor (MRT). Tumor suppressor. Inactivated in rhabdoid tumors. Rhabdoid tumors are a
    highly malignant group of neoplasms that usually occur in early childhood. SMARCB1/INI1 is also
    frequently inactivated in epithelioid sarcomas
  • Defects in SMARCB1 are a cause of schwannomatosis [MIM:162091]; also called congenital
    cutaneous neurilemmomatosis. Schwannomas are benign tumors of the peripheral nerve sheath that
    usually occur singly in otherwise normal individuals. Multiple schwannomas in the same individual
    suggest an underlying tumor-predisposition syndrome. The most common such syndrome is NF2. The
    hallmark of NF2 is the development of bilateral vestibular-nerve schwannomas; but two-thirds or
    more of all NF2-affected individuals develop schwannomas in other locations, and dermal
    schwannomas may precede vestibular tumors in NF2-affected children. There have been several
    reports of individuals with multiple schwannomas who do not show evidence of vestibular
    schwannoma. Clinical report suggests that schwannomatosis is a clinical entity distinct from other
    forms of neurofibromatosis

    • 10/27 Novoseek disease relationships for SMARCB1 gene (see all 27 )

    Disease   Score   Articles   PubMed IDs for Articles with Shared Sentences (# sentences)
    rhabdoid tumor 96.55 77 15761491 (5), 9892189 (4), 17376508 (4), 16099835 (3) (see all 33)
    sarcoma epithelioid 77.16 14 19318800 (7), 19033866 (2), 18327209 (1), 19141382 (1)
    cns tumors 66.56 4 18327209 (1), 17063089 (1), 12429635 (1)
    embryonal tumor 65.28 2 15965700 (1), 17063089 (1)
    pediatric brain tumor 62.44 5 17063089 (2), 15105654 (1)
    medulloblastoma 55.02 3 10914721 (2), 11550309 (1)
    tumors 52.56 89 17063089 (6), 15892296 (5), 16206192 (4), 16301525 (4) (see all 42)
    schwannoma 52.37 3 10208879 (2), 18072270 (1)
    brain tumors 47.80 5 11484819 (3), 10739763 (2)
    sarcoma 44.62 3 18997735 (2), 15761491 (1)
    About this table

    Human Gene Mutation Database: SMARCB1
    Genetic Association Database: SMARCB1
    Human Genome Epidemiology Navigator: SMARCB1 (3 documents)

    Medical News
    for SMARCB1

    (Possibly Related Articles in Doctor's Guide)
    About This Section

    		   --

    Publications
    for SMARCB1

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

    		10/188 PubMed articles for SMARCB1 gene (see all 188 ):

    Search for SMARCB1

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section

     ANDOR
    Aliases
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    Genome Databases showing SMARCB1

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, and/or H-InvDB)
    About This Section
    Entrez Gene: 6598 HGNC: 11103 AceView: SMARCB1 Ensembl:ENSG00000099956 euGenes: HUgn6598
    ECgene: SMARCB1 H-InvDB: SMARCB1

    Other Databases showing SMARCB1

    (According to HUGE)
    About This Section

    		   --

    Specialized Databases showing SMARCB1

    (According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    ATLAS Chromosomes in Cancer entry for SMARCB1 Genetics and Cytogenetics in Oncology and Haematology
    GeneReviewshttp://www.genetests.org/query?gene=SMARCB1
    NIEHS-SNPshttp://egp.gs.washington.edu/data/smarcb1/

    Licensable Technologies
    for SMARCB1

    (Available from WIS Yeda, Salk, Tufts)
    About This Section

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    Services
    for SMARCB1

    (Reagents available from Applied Biosystems, Antibodies and assays by Cell Signaling Technology, Abcam, Novus Biologicals,
    Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich,
    Enzo Life Sciences, and/or Tocris Bioscience)
    About This Section



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