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SMC3 (structural maintenance of chromosomes 3)

Identity

Other namesBAM
BMH
CDLS3
CSPG6
HCAP
SMC3L1
HGNC (Hugo) SMC3
LocusID (NCBI) 9126
Location 10q25.2
Location_base_pair Starts at 112327449 and ends at 112364392 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)SMC3   2468
Cards
Entrez_Gene (NCBI)SMC3  9126  structural maintenance of chromosomes 3
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
cBioPortalSMC3
AceView (NCBI)SMC3
Genatlas (Paris)SMC3
WikiGenes9126
SOURCE (Princeton)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)AC_000142 NC_000010 NC_018921 NG_012217 NT_030059 NW_001838006 NW_004929376
Consensus coding sequences : CCDS (NCBI)SMC3
Cluster EST : UnigeneHs.24485 [ NCBI ]
CGAP (NCI)Hs.24485
Alternative Splicing : Fast-db (Paris)GSHG0003679
Alternative Splicing GalleryENSG00000108055
Gene ExpressionSMC3 [ NCBI-GEO ]     SMC3 [ SEEK ]   SMC3 [ MEM ]
SOURCE (Princeton)Expression in : [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9UQE7 (Uniprot)
NextProtQ9UQE7  [Medical]
With graphics : InterProQ9UQE7
Splice isoforms : SwissVarQ9UQE7 (Swissvar)
Domains : Interpro (EBI)P-loop_NTPase    RecF/RecN/SMC_N    SMC_hinge   
Related proteins : CluSTrQ9UQE7
Domain families : Pfam (Sanger)SMC_hinge (PF06470)    SMC_N (PF02463)   
Domain families : Pfam (NCBI)pfam06470    pfam02463   
Domain families : Smart (EMBL)SMC_hinge (SM00968)  
DMDM Disease mutations9126
Blocks (Seattle)Q9UQE7
Human Protein AtlasENSG00000108055
Peptide AtlasQ9UQE7
HPRD05829
IPIIPI00219420   
Protein Interaction databases
DIP (DOE-UCLA)Q9UQE7
IntAct (EBI)Q9UQE7
FunCoupENSG00000108055
BioGRIDSMC3
IntegromeDBSMC3
STRING (EMBL)SMC3
Ontologies - Pathways
QuickGOQ9UQE7
Ontology : AmiGOmitotic cell cycle  chromosome, centromeric region  chromatin  lateral element  spindle pole  chromatin binding  microtubule motor activity  protein binding  ATP binding  basement membrane  nucleus  nucleoplasm  chromosome  nucleolus  cytoplasm  cytosol  regulation of DNA replication  DNA repair  mitotic spindle organization  sister chromatid cohesion  sister chromatid cohesion  mitotic nuclear division  meiotic nuclear division  signal transduction  cohesin complex  nuclear matrix  stem cell maintenance  meiotic cohesin complex  negative regulation of DNA endoreduplication  nuclear meiotic cohesin complex  mediator complex binding  dynein binding  protein heterodimerization activity  
Ontology : EGO-EBImitotic cell cycle  chromosome, centromeric region  chromatin  lateral element  spindle pole  chromatin binding  microtubule motor activity  protein binding  ATP binding  basement membrane  nucleus  nucleoplasm  chromosome  nucleolus  cytoplasm  cytosol  regulation of DNA replication  DNA repair  mitotic spindle organization  sister chromatid cohesion  sister chromatid cohesion  mitotic nuclear division  meiotic nuclear division  signal transduction  cohesin complex  nuclear matrix  stem cell maintenance  meiotic cohesin complex  negative regulation of DNA endoreduplication  nuclear meiotic cohesin complex  mediator complex binding  dynein binding  protein heterodimerization activity  
Pathways : KEGGCell cycle    Oocyte meiosis   
Protein Interaction DatabaseSMC3
DoCM (Curated mutations)SMC3
Wikipedia pathwaysSMC3
Gene fusion - rearrangements
Polymorphisms : SNP, variants
NCBI Variation ViewerSMC3 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)SMC3
dbVarSMC3
ClinVarSMC3
1000_GenomesSMC3 
Exome Variant ServerSMC3
SNP (GeneSNP Utah)SMC3
SNP : HGBaseSMC3
Genetic variants : HAPMAPSMC3
Genomic VariantsSMC3  SMC3 [DGVbeta]
Mutations
ICGC Data PortalENSG00000108055 
Somatic Mutations in Cancer : COSMICSMC3 
CONAN: Copy Number AnalysisSMC3 
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
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)10:112327449-112364392
Mutations and Diseases : HGMDSMC3
OMIM606062    610759   
MedgenSMC3
NextProtQ9UQE7 [Medical]
GENETestsSMC3
Disease Genetic AssociationSMC3
Huge Navigator SMC3 [HugePedia]  SMC3 [HugeCancerGEM]
snp3D : Map Gene to Disease9126
DGIdb (Drug Gene Interaction db)SMC3
General knowledge
Homologs : HomoloGeneSMC3
Homology/Alignments : Family Browser (UCSC)SMC3
Phylogenetic Trees/Animal Genes : TreeFamSMC3
Chemical/Protein Interactions : CTD9126
Chemical/Pharm GKB GenePA26966
Clinical trialSMC3
Cancer Resource (Charite)ENSG00000108055
Other databases
Probes
Litterature
PubMed103 Pubmed reference(s) in Entrez
CoreMineSMC3
GoPubMedSMC3
iHOPSMC3
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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Contributor(s)

Written09-2002Dessen P, Le Minor S
Updated12-2014Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Sun Dec 21 01:32:03 CET 2014

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