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SMARCC2 (SWI/SNF related, matrix associated, actin dependent regulator of chromatin subfamily c member 2)

Identity

Alias_namesSWI/SNF related
Alias_symbol (synonym)BAF170
Rsc8
CRACC2
Other alias
HGNC (Hugo) SMARCC2
LocusID (NCBI) 6601
Atlas_Id 42335
Location 12q13.2  [Link to chromosome band 12q13]
Location_base_pair Starts at 56162359 and ends at 56189574 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
ARHGAP26 (5q31.3) / SMARCC2 (12q13.2)PDXDC1 (16p13.11) / SMARCC2 (12q13.2)RB1CC1 (8q11.23) / SMARCC2 (12q13.2)
SCCPDH (1q44) / SMARCC2 (12q13.2)SMARCC2 (12q13.2) / BCYRN1 (Xq13.1)SMARCC2 (12q13.2) / CEP95 (17q23.3)
SMARCC2 (12q13.2) / SELENBP1 (1q21.3)SMARCC2 (12q13.2) / SMARCC2 (12q13.2)SMARCC2 (12q13.2) / SOGA1 (20q11.23)
TGFBR3 (1p22.1) / SMARCC2 (12q13.2)

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)SMARCC2   11105
Cards
Entrez_Gene (NCBI)SMARCC2  6601  SWI/SNF related, matrix associated, actin dependent regulator of chromatin subfamily c member 2
AliasesBAF170; CRACC2; Rsc8
GeneCards (Weizmann)SMARCC2
Ensembl hg19 (Hinxton)ENSG00000139613 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000139613 [Gene_View]  chr12:56162359-56189574 [Contig_View]  SMARCC2 [Vega]
ICGC DataPortalENSG00000139613
TCGA cBioPortalSMARCC2
AceView (NCBI)SMARCC2
Genatlas (Paris)SMARCC2
WikiGenes6601
SOURCE (Princeton)SMARCC2
Genetics Home Reference (NIH)SMARCC2
Genomic and cartography
GoldenPath hg38 (UCSC)SMARCC2  -     chr12:56162359-56189574 -  12q13.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)SMARCC2  -     12q13.2   [Description]    (hg19-Feb_2009)
EnsemblSMARCC2 - 12q13.2 [CytoView hg19]  SMARCC2 - 12q13.2 [CytoView hg38]
Mapping of homologs : NCBISMARCC2 [Mapview hg19]  SMARCC2 [Mapview hg38]
OMIM601734   
Gene and transcription
Genbank (Entrez)AB209006 AB209293 AK025128 AK293896 AK315153
RefSeq transcript (Entrez)NM_001130420 NM_001330288 NM_003075 NM_139067
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)SMARCC2
Cluster EST : UnigeneHs.632717 [ NCBI ]
CGAP (NCI)Hs.632717
Alternative Splicing GalleryENSG00000139613
Gene ExpressionSMARCC2 [ NCBI-GEO ]   SMARCC2 [ EBI - ARRAY_EXPRESS ]   SMARCC2 [ SEEK ]   SMARCC2 [ MEM ]
Gene Expression Viewer (FireBrowse)SMARCC2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)6601
GTEX Portal (Tissue expression)SMARCC2
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ8TAQ2   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ8TAQ2  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ8TAQ2
Splice isoforms : SwissVarQ8TAQ2
PhosPhoSitePlusQ8TAQ2
Domaine pattern : Prosite (Expaxy)SANT (PS51293)    SWIRM (PS50934)   
Domains : Interpro (EBI)BRCT_dom    Chromo/chromo_shadow_dom    Homeobox-like    SANT/Myb    SANT_dom    SMARCC2(BAF170)    SMARCC_C    SMARCC_N    SWIRM    SWIRM-assoc    WHTH_DNA-bd_dom   
Domain families : Pfam (Sanger)Myb_DNA-binding (PF00249)    SWIRM (PF04433)    SWIRM-assoc_1 (PF16495)    SWIRM-assoc_2 (PF16496)    SWIRM-assoc_3 (PF16498)   
Domain families : Pfam (NCBI)pfam00249    pfam04433    pfam16495    pfam16496    pfam16498   
Domain families : Smart (EMBL)CHROMO (SM00298)  SANT (SM00717)  
Conserved Domain (NCBI)SMARCC2
DMDM Disease mutations6601
Blocks (Seattle)SMARCC2
SuperfamilyQ8TAQ2
Human Protein AtlasENSG00000139613
Peptide AtlasQ8TAQ2
HPRD03437
IPIIPI00216047   IPI00150057   IPI00470387   IPI00793163   IPI01020866   IPI01021606   
Protein Interaction databases
DIP (DOE-UCLA)Q8TAQ2
IntAct (EBI)Q8TAQ2
FunCoupENSG00000139613
BioGRIDSMARCC2
STRING (EMBL)SMARCC2
ZODIACSMARCC2
Ontologies - Pathways
QuickGOQ8TAQ2
Ontology : AmiGOnuclear chromatin  RNA polymerase II core promoter proximal region sequence-specific DNA binding  RNA polymerase II distal enhancer sequence-specific DNA binding  transcription coactivator activity  protein binding  nucleoplasm  nucleoplasm  nucleosome disassembly  chromatin remodeling  transcription, DNA-templated  regulation of transcription from RNA polymerase II promoter  nervous system development  SWI/SNF complex  covalent chromatin modification  transcriptional repressor complex  nucleosomal DNA binding  ATP-dependent chromatin remodeling  protein complex  negative regulation of transcription, DNA-templated  positive regulation of transcription, DNA-templated  npBAF complex  nBAF complex  
Ontology : EGO-EBInuclear chromatin  RNA polymerase II core promoter proximal region sequence-specific DNA binding  RNA polymerase II distal enhancer sequence-specific DNA binding  transcription coactivator activity  protein binding  nucleoplasm  nucleoplasm  nucleosome disassembly  chromatin remodeling  transcription, DNA-templated  regulation of transcription from RNA polymerase II promoter  nervous system development  SWI/SNF complex  covalent chromatin modification  transcriptional repressor complex  nucleosomal DNA binding  ATP-dependent chromatin remodeling  protein complex  negative regulation of transcription, DNA-templated  positive regulation of transcription, DNA-templated  npBAF complex  nBAF complex  
Pathways : BIOCARTAChromatin Remodeling by hSWI/SNF ATP-dependent Complexes [Genes]    Control of Gene Expression by Vitamin D Receptor [Genes]   
NDEx NetworkSMARCC2
Atlas of Cancer Signalling NetworkSMARCC2
Wikipedia pathwaysSMARCC2
Orthology - Evolution
OrthoDB6601
GeneTree (enSembl)ENSG00000139613
Phylogenetic Trees/Animal Genes : TreeFamSMARCC2
HOVERGENQ8TAQ2
HOGENOMQ8TAQ2
Homologs : HomoloGeneSMARCC2
Homology/Alignments : Family Browser (UCSC)SMARCC2
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerSMARCC2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)SMARCC2
dbVarSMARCC2
ClinVarSMARCC2
1000_GenomesSMARCC2 
Exome Variant ServerSMARCC2
ExAC (Exome Aggregation Consortium)SMARCC2 (select the gene name)
Genetic variants : HAPMAP6601
Genomic Variants (DGV)SMARCC2 [DGVbeta]
DECIPHERSMARCC2 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisSMARCC2 
Mutations
ICGC Data PortalSMARCC2 
TCGA Data PortalSMARCC2 
Broad Tumor PortalSMARCC2
OASIS PortalSMARCC2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICSMARCC2  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDSMARCC2
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch SMARCC2
DgiDB (Drug Gene Interaction Database)SMARCC2
DoCM (Curated mutations)SMARCC2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)SMARCC2 (select a term)
intoGenSMARCC2
Cancer3DSMARCC2(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM601734   
Orphanet
MedgenSMARCC2
Genetic Testing Registry SMARCC2
NextProtQ8TAQ2 [Medical]
TSGene6601
GENETestsSMARCC2
Target ValidationSMARCC2
Huge Navigator SMARCC2 [HugePedia]
snp3D : Map Gene to Disease6601
BioCentury BCIQSMARCC2
ClinGenSMARCC2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD6601
Chemical/Pharm GKB GenePA35955
Clinical trialSMARCC2
Miscellaneous
canSAR (ICR)SMARCC2 (select the gene name)
Probes
Litterature
PubMed100 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineSMARCC2
EVEXSMARCC2
GoPubMedSMARCC2
iHOPSMARCC2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Wed Jun 7 12:56:30 CEST 2017

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