Atlas of Genetics and Cytogenetics in Oncology and Haematology


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SMC3 (structural maintenance of chromosomes 3)

Identity

Alias_namesCSPG6
chondroitin sulfate proteoglycan 6 (bamacan)
Alias_symbol (synonym)HCAP
BAM
SMC3L1
bamacan
HGNC (Hugo) SMC3
LocusID (NCBI) 9126
Atlas_Id 40175
Location 10q25.2  [Link to chromosome band 10q25]
Location_base_pair Starts at 112327449 and ends at 112364392 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
SMC3 (10q25.2) / FN1 (2q35)SMC3 (10q25.2) / RNF13 (3q25.1)SMC3 (10q25.2) / SMC3 (10q25.2)

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

 


Other Leukemias implicated (Data extracted from papers in the Atlas) [ 1 ]
  Chronic Myelomonocytic Leukemia (CMML)


External links

Nomenclature
HGNC (Hugo)SMC3   2468
LRG (Locus Reference Genomic)LRG_774
Cards
Entrez_Gene (NCBI)SMC3  9126  structural maintenance of chromosomes 3
AliasesBAM; BMH; CDLS3; CSPG6; 
HCAP; SMC3L1
GeneCards (Weizmann)SMC3
Ensembl hg19 (Hinxton)ENSG00000108055 [Gene_View]  chr10:112327449-112364392 [Contig_View]  SMC3 [Vega]
Ensembl hg38 (Hinxton)ENSG00000108055 [Gene_View]  chr10:112327449-112364392 [Contig_View]  SMC3 [Vega]
ICGC DataPortalENSG00000108055
TCGA cBioPortalSMC3
AceView (NCBI)SMC3
Genatlas (Paris)SMC3
WikiGenes9126
SOURCE (Princeton)SMC3
Genetics Home Reference (NIH)SMC3
Genomic and cartography
GoldenPath hg19 (UCSC)SMC3  -     chr10:112327449-112364392 +  10q25.2   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)SMC3  -     10q25.2   [Description]    (hg38-Dec_2013)
EnsemblSMC3 - 10q25.2 [CytoView hg19]  SMC3 - 10q25.2 [CytoView hg38]
Mapping of homologs : NCBISMC3 [Mapview hg19]  SMC3 [Mapview hg38]
OMIM606062   610759   
Gene and transcription
Genbank (Entrez)AF020043 AF067163 AJ005015 AK289771 AK315845
RefSeq transcript (Entrez)NM_005445
RefSeq genomic (Entrez)NC_000010 NC_018921 NG_012217 NT_030059 NW_004929376
Consensus coding sequences : CCDS (NCBI)SMC3
Cluster EST : UnigeneHs.24485 [ NCBI ]
CGAP (NCI)Hs.24485
Alternative Splicing GalleryENSG00000108055
Gene ExpressionSMC3 [ NCBI-GEO ]   SMC3 [ EBI - ARRAY_EXPRESS ]   SMC3 [ SEEK ]   SMC3 [ MEM ]
Gene Expression Viewer (FireBrowse)SMC3 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)9126
GTEX Portal (Tissue expression)SMC3
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9UQE7   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9UQE7  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9UQE7
Splice isoforms : SwissVarQ9UQE7
PhosPhoSitePlusQ9UQE7
Domains : Interpro (EBI)P-loop_NTPase    RecF/RecN/SMC_N    SMC    SMC3    SMC_hinge   
Domain families : Pfam (Sanger)SMC_hinge (PF06470)    SMC_N (PF02463)   
Domain families : Pfam (NCBI)pfam06470    pfam02463   
Domain families : Smart (EMBL)SMC_hinge (SM00968)  
Conserved Domain (NCBI)SMC3
DMDM Disease mutations9126
Blocks (Seattle)SMC3
SuperfamilyQ9UQE7
Human Protein AtlasENSG00000108055
Peptide AtlasQ9UQE7
HPRD05829
IPIIPI00219420   
Protein Interaction databases
DIP (DOE-UCLA)Q9UQE7
IntAct (EBI)Q9UQE7
FunCoupENSG00000108055
BioGRIDSMC3
STRING (EMBL)SMC3
ZODIACSMC3
Ontologies - Pathways
QuickGOQ9UQE7
Ontology : AmiGOchromosome, centromeric region  chromatin  lateral element  spindle pole  chromatin binding  microtubule motor activity  protein binding  ATP binding  basement membrane  nucleus  nucleoplasm  nucleoplasm  chromosome  cytoplasm  cytosol  regulation of DNA replication  DNA repair  mitotic spindle organization  sister chromatid cohesion  sister chromatid cohesion  sister chromatid cohesion  mitotic sister chromatid cohesion  mitotic nuclear division  meiotic nuclear division  signal transduction  cohesin complex  cohesin core heterodimer  nuclear matrix  protein sumoylation  stem cell population maintenance  meiotic cohesin complex  negative regulation of DNA endoreduplication  nuclear meiotic cohesin complex  mediator complex binding  dynein binding  protein heterodimerization activity  cell division  
Ontology : EGO-EBIchromosome, centromeric region  chromatin  lateral element  spindle pole  chromatin binding  microtubule motor activity  protein binding  ATP binding  basement membrane  nucleus  nucleoplasm  nucleoplasm  chromosome  cytoplasm  cytosol  regulation of DNA replication  DNA repair  mitotic spindle organization  sister chromatid cohesion  sister chromatid cohesion  sister chromatid cohesion  mitotic sister chromatid cohesion  mitotic nuclear division  meiotic nuclear division  signal transduction  cohesin complex  cohesin core heterodimer  nuclear matrix  protein sumoylation  stem cell population maintenance  meiotic cohesin complex  negative regulation of DNA endoreduplication  nuclear meiotic cohesin complex  mediator complex binding  dynein binding  protein heterodimerization activity  cell division  
Pathways : KEGGCell cycle    Oocyte meiosis   
NDEx NetworkSMC3
Atlas of Cancer Signalling NetworkSMC3
Wikipedia pathwaysSMC3
Orthology - Evolution
OrthoDB9126
GeneTree (enSembl)ENSG00000108055
Phylogenetic Trees/Animal Genes : TreeFamSMC3
HOVERGENQ9UQE7
HOGENOMQ9UQE7
Homologs : HomoloGeneSMC3
Homology/Alignments : Family Browser (UCSC)SMC3
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerSMC3 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)SMC3
dbVarSMC3
ClinVarSMC3
1000_GenomesSMC3 
Exome Variant ServerSMC3
ExAC (Exome Aggregation Consortium)SMC3 (select the gene name)
Genetic variants : HAPMAP9126
Genomic Variants (DGV)SMC3 [DGVbeta]
DECIPHER (Syndromes)10:112327449-112364392  ENSG00000108055
CONAN: Copy Number AnalysisSMC3 
Mutations
ICGC Data PortalSMC3 
TCGA Data PortalSMC3 
Broad Tumor PortalSMC3
OASIS PortalSMC3 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICSMC3  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDSMC3
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
BioMutasearch SMC3
DgiDB (Drug Gene Interaction Database)SMC3
DoCM (Curated mutations)SMC3 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)SMC3 (select a term)
intoGenSMC3
Cancer3DSMC3(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM606062    610759   
Orphanet299   
MedgenSMC3
Genetic Testing Registry SMC3
NextProtQ9UQE7 [Medical]
TSGene9126
GENETestsSMC3
Huge Navigator SMC3 [HugePedia]
snp3D : Map Gene to Disease9126
BioCentury BCIQSMC3
ClinGenSMC3
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD9126
Chemical/Pharm GKB GenePA26966
Clinical trialSMC3
Miscellaneous
canSAR (ICR)SMC3 (select the gene name)
Probes
Litterature
PubMed113 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineSMC3
EVEXSMC3
GoPubMedSMC3
iHOPSMC3
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 : Fri Nov 18 19:51:59 CET 2016

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