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SMARCD2 (SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 2)

Identity

Alias_symbol (synonym)BAF60B
Rsc6p
CRACD2
PRO2451
Other alias
HGNC (Hugo) SMARCD2
LocusID (NCBI) 6603
Atlas_Id 42337
Location 17q23.3  [Link to chromosome band 17q23]
Location_base_pair Starts at 61909441 and ends at 61920351 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
OPCML (11q25) / SMARCD2 (17q23.3)PRR14L (22q12.2) / SMARCD2 (17q23.3)SMARCD2 (17q23.3) / ACSS3 (12q21.31)
SMARCD2 (17q23.3) / AMOTL1 (11q21)SMARCD2 (17q23.3) / FLNA (Xq28)STK11 (19p13.3) / SMARCD2 (17q23.3)
STK11 19p13.3 / SMARCD2 17q23.3

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)SMARCD2   11107
Cards
Entrez_Gene (NCBI)SMARCD2  6603  SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 2
AliasesBAF60B; CRACD2; PRO2451; Rsc6p
GeneCards (Weizmann)SMARCD2
Ensembl hg19 (Hinxton)ENSG00000108604 [Gene_View]  chr17:61909441-61920351 [Contig_View]  SMARCD2 [Vega]
Ensembl hg38 (Hinxton)ENSG00000108604 [Gene_View]  chr17:61909441-61920351 [Contig_View]  SMARCD2 [Vega]
ICGC DataPortalENSG00000108604
TCGA cBioPortalSMARCD2
AceView (NCBI)SMARCD2
Genatlas (Paris)SMARCD2
WikiGenes6603
SOURCE (Princeton)SMARCD2
Genetics Home Reference (NIH)SMARCD2
Genomic and cartography
GoldenPath hg19 (UCSC)SMARCD2  -     chr17:61909441-61920351 -  17q23.3   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)SMARCD2  -     17q23.3   [Description]    (hg38-Dec_2013)
EnsemblSMARCD2 - 17q23.3 [CytoView hg19]  SMARCD2 - 17q23.3 [CytoView hg38]
Mapping of homologs : NCBISMARCD2 [Mapview hg19]  SMARCD2 [Mapview hg38]
OMIM601736   
Gene and transcription
Genbank (Entrez)AF113019 AK025917 AK300939 AK303951 AK307944
RefSeq transcript (Entrez)NM_001098426 NM_003077
RefSeq genomic (Entrez)NC_000017 NC_018928 NT_010783 NW_004929407
Consensus coding sequences : CCDS (NCBI)SMARCD2
Cluster EST : UnigeneHs.250581 [ NCBI ]
CGAP (NCI)Hs.250581
Alternative Splicing GalleryENSG00000108604
Gene ExpressionSMARCD2 [ NCBI-GEO ]   SMARCD2 [ EBI - ARRAY_EXPRESS ]   SMARCD2 [ SEEK ]   SMARCD2 [ MEM ]
Gene Expression Viewer (FireBrowse)SMARCD2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)6603
GTEX Portal (Tissue expression)SMARCD2
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ92925   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ92925  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ92925
Splice isoforms : SwissVarQ92925
PhosPhoSitePlusQ92925
Domains : Interpro (EBI)BAF60B    SWIB_MDM2_domain   
Domain families : Pfam (Sanger)SWIB (PF02201)   
Domain families : Pfam (NCBI)pfam02201   
Conserved Domain (NCBI)SMARCD2
DMDM Disease mutations6603
Blocks (Seattle)SMARCD2
SuperfamilyQ92925
Human Protein AtlasENSG00000108604
Peptide AtlasQ92925
HPRD03439
IPIIPI00853043   IPI00514042   IPI00939917   IPI00242273   
Protein Interaction databases
DIP (DOE-UCLA)Q92925
IntAct (EBI)Q92925
FunCoupENSG00000108604
BioGRIDSMARCD2
STRING (EMBL)SMARCD2
ZODIACSMARCD2
Ontologies - Pathways
QuickGOQ92925
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  nucleosome disassembly  chromatin remodeling  transcription, DNA-templated  regulation of transcription from RNA polymerase II promoter  SWI/SNF complex  nucleosomal DNA binding  ATP-dependent chromatin remodeling  protein 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  nucleosome disassembly  chromatin remodeling  transcription, DNA-templated  regulation of transcription from RNA polymerase II promoter  SWI/SNF complex  nucleosomal DNA binding  ATP-dependent chromatin remodeling  protein complex  
NDEx NetworkSMARCD2
Atlas of Cancer Signalling NetworkSMARCD2
Wikipedia pathwaysSMARCD2
Orthology - Evolution
OrthoDB6603
GeneTree (enSembl)ENSG00000108604
Phylogenetic Trees/Animal Genes : TreeFamSMARCD2
HOVERGENQ92925
HOGENOMQ92925
Homologs : HomoloGeneSMARCD2
Homology/Alignments : Family Browser (UCSC)SMARCD2
Gene fusions - Rearrangements
Fusion : MitelmanSTK11/SMARCD2 [19p13.3/17q23.3]  [t(17;19)(q23;p13)]  
Fusion: TCGASTK11 19p13.3 SMARCD2 17q23.3 BRCA
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerSMARCD2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)SMARCD2
dbVarSMARCD2
ClinVarSMARCD2
1000_GenomesSMARCD2 
Exome Variant ServerSMARCD2
ExAC (Exome Aggregation Consortium)SMARCD2 (select the gene name)
Genetic variants : HAPMAP6603
Genomic Variants (DGV)SMARCD2 [DGVbeta]
DECIPHER (Syndromes)17:61909441-61920351  ENSG00000108604
CONAN: Copy Number AnalysisSMARCD2 
Mutations
ICGC Data PortalSMARCD2 
TCGA Data PortalSMARCD2 
Broad Tumor PortalSMARCD2
OASIS PortalSMARCD2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICSMARCD2  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDSMARCD2
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch SMARCD2
DgiDB (Drug Gene Interaction Database)SMARCD2
DoCM (Curated mutations)SMARCD2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)SMARCD2 (select a term)
intoGenSMARCD2
Cancer3DSMARCD2(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM601736   
Orphanet
MedgenSMARCD2
Genetic Testing Registry SMARCD2
NextProtQ92925 [Medical]
TSGene6603
GENETestsSMARCD2
Huge Navigator SMARCD2 [HugePedia]
snp3D : Map Gene to Disease6603
BioCentury BCIQSMARCD2
ClinGenSMARCD2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD6603
Chemical/Pharm GKB GenePA35957
Clinical trialSMARCD2
Miscellaneous
canSAR (ICR)SMARCD2 (select the gene name)
Probes
Litterature
PubMed29 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineSMARCD2
EVEXSMARCD2
GoPubMedSMARCD2
iHOPSMARCD2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Mar 14 13:28:15 CET 2017

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