Atlas of Genetics and Cytogenetics in Oncology and Haematology


Home   Genes   Leukemias   Solid Tumors   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

X Y 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 NA

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

Identity

Alias_symbol (synonym)BAF60B
Rsc6p
CRACD2
PRO2451
Other aliasSGD2
HGNC (Hugo) SMARCD2
LocusID (NCBI) 6603
Atlas_Id 42337
Location 12q13.12  [Link to chromosome band 12q13]
Location_base_pair Starts at 63832081 and ends at 63838728 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
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

 


Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 1 ]
  t(17;19)(q23;p13) STK11/SMARCD2


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; 
SGD2
GeneCards (Weizmann)SMARCD2
Ensembl hg19 (Hinxton)ENSG00000108604 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000108604 [Gene_View]  ENSG00000108604 [Sequence]  chr17:63832081-63838728 [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 hg38 (UCSC)SMARCD2  -     chr17:63832081-63838728 -  12q13.12   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)SMARCD2  -     12q13.12   [Description]    (hg19-Feb_2009)
EnsemblSMARCD2 - 12q13.12 [CytoView hg19]  SMARCD2 - 12q13.12 [CytoView hg38]
Mapping of homologs : NCBISMARCD2 [Mapview hg19]  SMARCD2 [Mapview hg38]
OMIM601736   617475   
Gene and transcription
Genbank (Entrez)AF113019 AK025917 AK300939 AK303951 AK307944
RefSeq transcript (Entrez)NM_001098426 NM_001330439 NM_001330440 NM_003077
RefSeq genomic (Entrez)
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]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)6603
GTEX Portal (Tissue expression)SMARCD2
Human Protein AtlasENSG00000108604-SMARCD2 [pathology]   [cell]   [tissue]
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_domain    SWIB_MDM2_dom_sf    SWIB_MDM2_domain   
Domain families : Pfam (Sanger)SWIB (PF02201)   
Domain families : Pfam (NCBI)pfam02201   
Domain families : Smart (EMBL)SWIB (SM00151)  
Conserved Domain (NCBI)SMARCD2
DMDM Disease mutations6603
Blocks (Seattle)SMARCD2
SuperfamilyQ92925
Human Protein Atlas [tissue]ENSG00000108604-SMARCD2 [tissue]
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 proximal promoter 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 by RNA polymerase II  SWI/SNF complex  nucleosomal DNA binding  protein-containing complex  ATP-dependent chromatin remodeling  positive regulation of nucleic acid-templated transcription  
Ontology : EGO-EBInuclear chromatin  RNA polymerase II proximal promoter 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 by RNA polymerase II  SWI/SNF complex  nucleosomal DNA binding  protein-containing complex  ATP-dependent chromatin remodeling  positive regulation of nucleic acid-templated transcription  
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 PortalSTK11 19p13.3 SMARCD2 17q23.3 BRCA
Fusion : QuiverSMARCD2
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)ENSG00000108604
GNOMAD BrowserENSG00000108604
Varsome BrowserSMARCD2
Genetic variants : HAPMAP6603
Genomic Variants (DGV)SMARCD2 [DGVbeta]
DECIPHERSMARCD2 [patients]   [syndromes]   [variants]   [genes]  
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] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM601736    617475   
Orphanet
DisGeNETSMARCD2
MedgenSMARCD2
Genetic Testing Registry SMARCD2
NextProtQ92925 [Medical]
TSGene6603
GENETestsSMARCD2
Target ValidationSMARCD2
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
PubMed36 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

Search in all EBI   NCBI

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Thu Aug 16 11:33:05 CEST 2018

Home   Genes   Leukemias   Solid Tumors   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

For comments and suggestions or contributions, please contact us

jlhuret@AtlasGeneticsOncology.org.