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SMC3 (structural maintenance of chromosomes 3)

Identity

Alias (NCBI)BAM
BMH
CDLS3
CSPG6
HCAP
SMC3L1
HGNC (Hugo) SMC3
HGNC Alias symbHCAP
BAM
SMC3L1
bamacan
HGNC Alias namebamacan proteoglycan
HGNC Previous nameCSPG6
HGNC Previous namechondroitin sulfate proteoglycan 6 (bamacan)
LocusID (NCBI) 9126
Atlas_Id 40175
Location 10q25.2  [Link to chromosome band 10q25]
Location_base_pair Starts at 110567695 and ends at 110606046 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)
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    structural maintenance of chromosomes 3
AliasesBAM; BMH; CDLS3; CSPG6; 
HCAP; SMC3L1
GeneCards (Weizmann)SMC3
Ensembl hg19 (Hinxton)ENSG00000108055 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000108055 [Gene_View]  ENSG00000108055 [Sequence]  chr10:110567695-110606046 [Contig_View]  SMC3 [Vega]
ICGC DataPortalENSG00000108055
TCGA cBioPortalSMC3
AceView (NCBI)SMC3
Genatlas (Paris)SMC3
SOURCE (Princeton)SMC3
Genetics Home Reference (NIH)SMC3
Genomic and cartography
GoldenPath hg38 (UCSC)SMC3  -     chr10:110567695-110606046 +  10q25.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)SMC3  -     10q25.2   [Description]    (hg19-Feb_2009)
GoldenPathSMC3 - 10q25.2 [CytoView hg19]  SMC3 - 10q25.2 [CytoView hg38]
ImmunoBaseENSG00000108055
Genome Data Viewer NCBISMC3 [Mapview hg19]  
OMIM606062   610759   
Gene and transcription
Genbank (Entrez)AF020043 AF067163 AJ005015 AK289771 AK315845
RefSeq transcript (Entrez)NM_005445
Consensus coding sequences : CCDS (NCBI)SMC3
Gene ExpressionSMC3 [ NCBI-GEO ]   SMC3 [ EBI - ARRAY_EXPRESS ]   SMC3 [ SEEK ]   SMC3 [ MEM ]
Gene Expression Viewer (FireBrowse)SMC3 [ Firebrowse - Broad ]
GenevisibleExpression of SMC3 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)9126
GTEX Portal (Tissue expression)SMC3
Human Protein AtlasENSG00000108055-SMC3 [pathology]   [cell]   [tissue]
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
PhosPhoSitePlusQ9UQE7
Domains : Interpro (EBI)P-loop_NTPase    RecF/RecN/SMC_N    SMC    SMC3_ABC_euk    SMC_hinge    SMC_hinge_sf   
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
PDB (RSDB)6WG3    6WG4    6WG6    6WGE   
PDB Europe6WG3    6WG4    6WG6    6WGE   
PDB (PDBSum)6WG3    6WG4    6WG6    6WGE   
PDB (IMB)6WG3    6WG4    6WG6    6WGE   
Structural Biology KnowledgeBase6WG3    6WG4    6WG6    6WGE   
SCOP (Structural Classification of Proteins)6WG3    6WG4    6WG6    6WGE   
CATH (Classification of proteins structures)6WG3    6WG4    6WG6    6WGE   
SuperfamilyQ9UQE7
AlphaFold pdb e-kbQ9UQE7   
Human Protein Atlas [tissue]ENSG00000108055-SMC3 [tissue]
HPRD05829
Protein Interaction databases
DIP (DOE-UCLA)Q9UQE7
IntAct (EBI)Q9UQE7
BioGRIDSMC3
STRING (EMBL)SMC3
ZODIACSMC3
Ontologies - Pathways
QuickGOQ9UQE7
Ontology : AmiGOmitotic cell cycle  chromosome, centromeric region  chromatin  lateral element  chromatin binding  double-stranded DNA binding  microtubule motor activity  protein binding  ATP binding  nucleoplasm  nucleoplasm  chromosome  cytosol  regulation of DNA replication  DNA repair  sister chromatid cohesion  sister chromatid cohesion  mitotic sister chromatid cohesion  cohesin complex  cohesin complex  nuclear matrix  ATP hydrolysis activity  stem cell population maintenance  meiotic cohesin complex  nuclear mitotic cohesin complex  nuclear meiotic cohesin complex  mediator complex binding  protein heterodimerization activity  beta-tubulin binding  cell division  meiotic cell cycle  cohesin loading activity  dynein complex binding  mitotic spindle assembly  mitotic spindle pole  
Ontology : EGO-EBImitotic cell cycle  chromosome, centromeric region  chromatin  lateral element  chromatin binding  double-stranded DNA binding  microtubule motor activity  protein binding  ATP binding  nucleoplasm  nucleoplasm  chromosome  cytosol  regulation of DNA replication  DNA repair  sister chromatid cohesion  sister chromatid cohesion  mitotic sister chromatid cohesion  cohesin complex  cohesin complex  nuclear matrix  ATP hydrolysis activity  stem cell population maintenance  meiotic cohesin complex  nuclear mitotic cohesin complex  nuclear meiotic cohesin complex  mediator complex binding  protein heterodimerization activity  beta-tubulin binding  cell division  meiotic cell cycle  cohesin loading activity  dynein complex binding  mitotic spindle assembly  mitotic spindle pole  
Pathways : KEGGKEGG_CELL_CYCLE    KEGG_OOCYTE_MEIOSIS   
NDEx NetworkSMC3
Atlas of Cancer Signalling NetworkSMC3
Wikipedia pathwaysSMC3
Orthology - Evolution
OrthoDB9126
GeneTree (enSembl)ENSG00000108055
Phylogenetic Trees/Animal Genes : TreeFamSMC3
Homologs : HomoloGeneSMC3
Homology/Alignments : Family Browser (UCSC)SMC3
Gene fusions - Rearrangements
Fusion : QuiverSMC3
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerSMC3 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)SMC3
dbVarSMC3
ClinVarSMC3
MonarchSMC3
1000_GenomesSMC3 
Exome Variant ServerSMC3
GNOMAD BrowserENSG00000108055
Varsome BrowserSMC3
ACMGSMC3 variants
VarityQ9UQE7
Genomic Variants (DGV)SMC3 [DGVbeta]
DECIPHERSMC3 [patients]   [syndromes]   [variants]   [genes]  
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]  
Somatic Mutations in Cancer : COSMIC3DSMC3
Mutations and Diseases : HGMDSMC3
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaSMC3
DgiDB (Drug Gene Interaction Database)SMC3
DoCM (Curated mutations)SMC3
CIViC (Clinical Interpretations of Variants in Cancer)SMC3
Cancer3DSMC3
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM606062    610759   
Orphanet299   
DisGeNETSMC3
MedgenSMC3
Genetic Testing Registry SMC3
NextProtQ9UQE7 [Medical]
GENETestsSMC3
Target ValidationSMC3
Huge Navigator SMC3 [HugePedia]
ClinGenSMC3
Clinical trials, drugs, therapy
MyCancerGenomeSMC3
Protein Interactions : CTDSMC3
Pharm GKB GenePA26966
PharosQ9UQE7
Clinical trialSMC3
Miscellaneous
canSAR (ICR)SMC3
HarmonizomeSMC3
ARCHS4SMC3
DataMed IndexSMC3
Probes
Litterature
PubMed208 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXSMC3
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

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indexed on : Thu Jan 20 12:59:44 CET 2022

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