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SMARCD3 (SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 3)

Identity

Other namesBAF60C
CRACD3
Rsc6p
HGNC (Hugo) SMARCD3
LocusID (NCBI) 6604
Location 7q36.1
Location_base_pair Starts at 150936059 and ends at 150945749 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)SMARCD3   11108
Cards
Entrez_Gene (NCBI)SMARCD3  6604  SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 3
GeneCards (Weizmann)SMARCD3
Ensembl (Hinxton)ENSG00000082014 [Gene_View]  chr7:150936059-150945749 [Contig_View]  SMARCD3 [Vega]
ICGC DataPortalENSG00000082014
cBioPortalSMARCD3
AceView (NCBI)SMARCD3
Genatlas (Paris)SMARCD3
WikiGenes6604
SOURCE (Princeton)NM_001003801 NM_001003802 NM_003078
Genomic and cartography
GoldenPath (UCSC)SMARCD3  -  7q36.1   chr7:150936059-150945749 -  7q36.1   [Description]    (hg19-Feb_2009)
EnsemblSMARCD3 - 7q36.1 [CytoView]
Mapping of homologs : NCBISMARCD3 [Mapview]
OMIM601737   
Gene and transcription
Genbank (Entrez)AK127595 AK297876 AK309500 AK316173 AY450430
RefSeq transcript (Entrez)NM_001003801 NM_001003802 NM_003078
RefSeq genomic (Entrez)AC_000139 NC_000007 NC_018918 NG_029468 NT_007933 NW_001839088 NW_004929333
Consensus coding sequences : CCDS (NCBI)SMARCD3
Cluster EST : UnigeneHs.647067 [ NCBI ]
CGAP (NCI)Hs.647067
Alternative Splicing : Fast-db (Paris)GSHG0028723
Alternative Splicing GalleryENSG00000082014
Gene ExpressionSMARCD3 [ NCBI-GEO ]     SMARCD3 [ SEEK ]   SMARCD3 [ MEM ]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ6STE5 (Uniprot)
NextProtQ6STE5  [Medical]
With graphics : InterProQ6STE5
Splice isoforms : SwissVarQ6STE5 (Swissvar)
Domains : Interpro (EBI)SWIB_domain [organisation]   SWIB_MDM2_domain [organisation]  
Related proteins : CluSTrQ6STE5
Domain families : Pfam (Sanger)SWIB (PF02201)   
Domain families : Pfam (NCBI)pfam02201   
Domain families : Smart (EMBL)SWIB (SM00151)  
DMDM Disease mutations6604
Blocks (Seattle)Q6STE5
Human Protein AtlasENSG00000082014 [gene] [tissue] [antibody] [cell] [cancer]
Peptide AtlasQ6STE5
HPRD03440
IPIIPI00456146   IPI00106988   IPI00903013   IPI00922828   IPI00945222   IPI00945076   IPI00945439   
Protein Interaction databases
DIP (DOE-UCLA)Q6STE5
IntAct (EBI)Q6STE5
FunCoupENSG00000082014
BioGRIDSMARCD3
InParanoidQ6STE5
Interologous Interaction database Q6STE5
IntegromeDBSMARCD3
STRING (EMBL)SMARCD3
Ontologies - Pathways
Ontology : AmiGOnuclear chromatin  positive regulation of neuroblast proliferation  secondary heart field specification  cardiac right ventricle formation  neural retina development  transcription coactivator activity  receptor binding  protein binding  nucleus  nucleoplasm  cytoplasm  nucleosome disassembly  chromatin remodeling  chromatin remodeling  transcription, DNA-templated  regulation of transcription from RNA polymerase II promoter  regulation of transcription from RNA polymerase II promoter  transcription factor binding  SWI/SNF complex  SWI/SNF complex  ligand-dependent nuclear receptor binding  ligand-dependent nuclear receptor transcription coactivator activity  nuclear hormone receptor binding  muscle cell differentiation  regulation of protein binding  cellular lipid metabolic process  small molecule metabolic process  positive regulation of transcription, DNA-templated  npBAF complex  npBAF complex  nBAF complex  
Ontology : EGO-EBInuclear chromatin  positive regulation of neuroblast proliferation  secondary heart field specification  cardiac right ventricle formation  neural retina development  transcription coactivator activity  receptor binding  protein binding  nucleus  nucleoplasm  cytoplasm  nucleosome disassembly  chromatin remodeling  chromatin remodeling  transcription, DNA-templated  regulation of transcription from RNA polymerase II promoter  regulation of transcription from RNA polymerase II promoter  transcription factor binding  SWI/SNF complex  SWI/SNF complex  ligand-dependent nuclear receptor binding  ligand-dependent nuclear receptor transcription coactivator activity  nuclear hormone receptor binding  muscle cell differentiation  regulation of protein binding  cellular lipid metabolic process  small molecule metabolic process  positive regulation of transcription, DNA-templated  npBAF complex  npBAF complex  nBAF complex  
Protein Interaction DatabaseSMARCD3
Wikipedia pathwaysSMARCD3
Gene fusion - rearrangments
Polymorphisms : SNP, mutations, diseases
SNP Single Nucleotide Polymorphism (NCBI)SMARCD3
snp3D : Map Gene to Disease6604
SNP (GeneSNP Utah)SMARCD3
SNP : HGBaseSMARCD3
Genetic variants : HAPMAPSMARCD3
Exome VariantSMARCD3
1000_GenomesSMARCD3 
ICGC programENSG00000082014 
Somatic Mutations in Cancer : COSMICSMARCD3 
CONAN: Copy Number AnalysisSMARCD3 
Mutations and Diseases : HGMDSMARCD3
Mutations and Diseases : intOGenSMARCD3
Genomic VariantsSMARCD3  SMARCD3 [DGVbeta]
dbVarSMARCD3
ClinVarSMARCD3
Pred. of missensesPolyPhen-2  SIFT(SG)  SIFT(JCVI)  Align-GVGD  MutAssessor  Mutanalyser  
Pred. splicesGeneSplicer  Human Splicing Finder  MaxEntScan  
Diseases
OMIM601737   
MedgenSMARCD3
GENETestsSMARCD3
Disease Genetic AssociationSMARCD3
Huge Navigator SMARCD3 [HugePedia]  SMARCD3 [HugeCancerGEM]
General knowledge
Homologs : HomoloGeneSMARCD3
Homology/Alignments : Family Browser (UCSC)SMARCD3
Phylogenetic Trees/Animal Genes : TreeFamSMARCD3
Chemical/Protein Interactions : CTD6604
Chemical/Pharm GKB GenePA35958
Clinical trialSMARCD3
Cancer Resource (Charite)ENSG00000082014
Other databases
Probes
Litterature
PubMed29 Pubmed reference(s) in Entrez
CoreMineSMARCD3
iHOPSMARCD3
OncoSearchSMARCD3
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 17:05:29 CEST 2014

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