Atlas of Genetics and Cytogenetics in Oncology and Haematology


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SMARCA2 (SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2)

Identity

Other namesBAF190
BRM
NCBRS
SNF2
SNF2L2
SNF2LA
SWI2
Sth1p
hBRM
hSNF2a
HGNC (Hugo) SMARCA2
LocusID (NCBI) 6595
Location 9p24.3
Location_base_pair Starts at 2021945 and ends at 2193623 bp from pter ( according to hg19-Feb_2009)
Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 

External links

Nomenclature
HGNC (Hugo)SMARCA2   11098
Cards
Entrez_Gene (NCBI)SMARCA2  6595  SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2
GeneCards (Weizmann)SMARCA2
Ensembl (Hinxton)ENSG00000080503 [Gene_View]  chr9:2021945-2193623 [Contig_View]  SMARCA2 [Vega]
ICGC DataPortalENSG00000080503
cBioPortalSMARCA2
AceView (NCBI)SMARCA2
Genatlas (Paris)SMARCA2
WikiGenes6595
SOURCE (Princeton)NM_001289396 NM_001289397 NM_001289398 NM_001289399 NM_001289400 NM_003070 NM_139045
Genomic and cartography
GoldenPath (UCSC)SMARCA2  -  9p24.3   chr9:2021945-2193623 +  9p24.3   [Description]    (hg19-Feb_2009)
EnsemblSMARCA2 - 9p24.3 [CytoView]
Mapping of homologs : NCBISMARCA2 [Mapview]
OMIM600014   601358   
Gene and transcription
Genbank (Entrez)AK094076 AK296373 AK298045 AK299683 AK300093
RefSeq transcript (Entrez)NM_001289396 NM_001289397 NM_001289398 NM_001289399 NM_001289400 NM_003070 NM_139045
RefSeq genomic (Entrez)AC_000141 NC_000009 NC_018920 NG_032162 NT_008413 NW_001839149 NW_004929342
Consensus coding sequences : CCDS (NCBI)SMARCA2
Cluster EST : UnigeneHs.644901 [ NCBI ]
CGAP (NCI)Hs.644901
Alternative Splicing : Fast-db (Paris)GSHG0029984
Alternative Splicing GalleryENSG00000080503
Gene ExpressionSMARCA2 [ NCBI-GEO ]     SMARCA2 [ SEEK ]   SMARCA2 [ MEM ]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP51531 (Uniprot)
NextProtP51531  [Medical]
With graphics : InterProP51531
Splice isoforms : SwissVarP51531 (Swissvar)
Catalytic activity : Enzyme3.6.4.- [ Enzyme-Expasy ]   3.6.4.-3.6.4.- [ IntEnz-EBI ]   3.6.4.- [ BRENDA ]   3.6.4.- [ KEGG ]   
Domaine pattern : Prosite (Expaxy)BROMODOMAIN_1 (PS00633)    BROMODOMAIN_2 (PS50014)    HELICASE_ATP_BIND_1 (PS51192)    HELICASE_CTER (PS51194)    HSA (PS51204)    QLQ (PS51666)   
Domains : Interpro (EBI)BRK_domain [organisation]   Bromodomain [organisation]   Bromodomain_CS [organisation]   Gln-Leu-Gln_QLQ [organisation]   HAS_subgr [organisation]   Helicase/SANT-assoc_DNA-bd [organisation]   Helicase_ATP-bd [organisation]   Helicase_C [organisation]   P-loop_NTPase [organisation]   SnAC [organisation]   SNF2_N [organisation]  
Related proteins : CluSTrP51531
Domain families : Pfam (Sanger)BRK (PF07533)    Bromodomain (PF00439)    Helicase_C (PF00271)    HSA (PF07529)    QLQ (PF08880)    SnAC (PF14619)    SNF2_N (PF00176)   
Domain families : Pfam (NCBI)pfam07533    pfam00439    pfam00271    pfam07529    pfam08880    pfam14619    pfam00176   
Domain families : Smart (EMBL)BRK (SM00592)  BROMO (SM00297)  DEXDc (SM00487)  HELICc (SM00490)  HSA (SM00573)  QLQ (SM00951)  
DMDM Disease mutations6595
Blocks (Seattle)P51531
PDB (SRS)2DAT   
PDB (PDBSum)2DAT   
PDB (IMB)2DAT   
PDB (RSDB)2DAT   
Human Protein AtlasENSG00000080503 [gene] [tissue] [antibody] [cell] [cancer]
Peptide AtlasP51531
HPRD02483
IPIIPI00514648   IPI00386718   IPI00647560   IPI00647028   IPI00641350   IPI00641050   IPI00640353   IPI00642503   IPI00103451   IPI00643691   IPI00640994   IPI00644329   IPI00645885   
Protein Interaction databases
DIP (DOE-UCLA)P51531
IntAct (EBI)P51531
FunCoupENSG00000080503
BioGRIDSMARCA2
InParanoidP51531
Interologous Interaction database P51531
IntegromeDBSMARCA2
STRING (EMBL)SMARCA2
Ontologies - Pathways
Ontology : AmiGOnegative regulation of transcription from RNA polymerase II promoter  nuclear chromatin  RNA polymerase II transcription coactivator activity  transcription coactivator activity  helicase activity  protein binding  ATP binding  nucleus  nucleoplasm  nucleolus  ATP catabolic process  chromatin remodeling  transcription, DNA-templated  regulation of transcription, DNA-templated  regulation of transcription from RNA polymerase II promoter  nervous system development  DNA-dependent ATPase activity  negative regulation of cell proliferation  SWI/SNF complex  negative regulation of cell growth  aortic smooth muscle cell differentiation  histone binding  intracellular membrane-bounded organelle  transcription regulatory region DNA binding  intermediate filament cytoskeleton  negative regulation of transcription, DNA-templated  positive regulation of transcription, DNA-templated  positive regulation of transcription, DNA-templated  positive regulation of transcription from RNA polymerase II promoter  positive regulation of transcription from RNA polymerase II promoter  npBAF complex  nBAF complex  
Ontology : EGO-EBInegative regulation of transcription from RNA polymerase II promoter  nuclear chromatin  RNA polymerase II transcription coactivator activity  transcription coactivator activity  helicase activity  protein binding  ATP binding  nucleus  nucleoplasm  nucleolus  ATP catabolic process  chromatin remodeling  transcription, DNA-templated  regulation of transcription, DNA-templated  regulation of transcription from RNA polymerase II promoter  nervous system development  DNA-dependent ATPase activity  negative regulation of cell proliferation  SWI/SNF complex  negative regulation of cell growth  aortic smooth muscle cell differentiation  histone binding  intracellular membrane-bounded organelle  transcription regulatory region DNA binding  intermediate filament cytoskeleton  negative regulation of transcription, DNA-templated  positive regulation of transcription, DNA-templated  positive regulation of transcription, DNA-templated  positive regulation of transcription from RNA polymerase II promoter  positive regulation of transcription from RNA polymerase II promoter  npBAF complex  nBAF complex  
Protein Interaction DatabaseSMARCA2
Wikipedia pathwaysSMARCA2
Gene fusion - rearrangments
Polymorphisms : SNP, mutations, diseases
SNP Single Nucleotide Polymorphism (NCBI)SMARCA2
snp3D : Map Gene to Disease6595
SNP (GeneSNP Utah)SMARCA2
SNP : HGBaseSMARCA2
Genetic variants : HAPMAPSMARCA2
Exome VariantSMARCA2
1000_GenomesSMARCA2 
ICGC programENSG00000080503 
Somatic Mutations in Cancer : COSMICSMARCA2 
CONAN: Copy Number AnalysisSMARCA2 
Mutations and Diseases : HGMDSMARCA2
Mutations and Diseases : intOGenSMARCA2
Genomic VariantsSMARCA2  SMARCA2 [DGVbeta]
dbVarSMARCA2
ClinVarSMARCA2
Pred. of missensesPolyPhen-2  SIFT(SG)  SIFT(JCVI)  Align-GVGD  MutAssessor  Mutanalyser  
Pred. splicesGeneSplicer  Human Splicing Finder  MaxEntScan  
Diseases
OMIM600014    601358   
MedgenSMARCA2
GENETestsSMARCA2
Disease Genetic AssociationSMARCA2
Huge Navigator SMARCA2 [HugePedia]  SMARCA2 [HugeCancerGEM]
General knowledge
Homologs : HomoloGeneSMARCA2
Homology/Alignments : Family Browser (UCSC)SMARCA2
Phylogenetic Trees/Animal Genes : TreeFamSMARCA2
Chemical/Protein Interactions : CTD6595
Chemical/Pharm GKB GenePA35948
Clinical trialSMARCA2
Cancer Resource (Charite)ENSG00000080503
Other databases
Probes
Litterature
PubMed144 Pubmed reference(s) in Entrez
CoreMineSMARCA2
iHOPSMARCA2
OncoSearchSMARCA2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

Contributor(s)

Written09-2002Dessen P, Le Minor S
Updated12-2013Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Tue Aug 26 17:05:27 CEST 2014

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