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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

SMC3 Gene

protein-coding   GIFtS: 64
GCID: GC10P112318

Structural Maintenance Of Chromosomes 3

(Previous name: chondroitin sulfate proteoglycan 6 (bamacan))
(Previous symbol: CSPG6)
Microbiology & Infectious Diseases Congress
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Structural Maintenance Of Chromosomes 31 2     CDLS32 5
CSPG61 2 3 5     HCAP2 5
BAM2 3 5     Bamacan Proteoglycan1
Chondroitin Sulfate Proteoglycan 6 (Bamacan)1 2     Structural Maintenance Of Chromosomes Protein 32
Basement Membrane-Associated Chondroitin Proteoglycan2 3     Bamacan3
Chromosome-Associated Polypeptide2 3     SMC-33
BMH2 3     Chondroitin Sulfate Proteoglycan 63
SMC3L12 3     hCAP3
SMC Protein 32 3     

External Ids:    HGNC: 24681   Entrez Gene: 91262   Ensembl: ENSG000001080557   OMIM: 6060625   UniProtKB: Q9UQE73   

Export aliases for SMC3 gene to outside databases

Previous GC identifer: GC10P105957


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for SMC3 Gene:
This gene belongs to the SMC3 subfamily of SMC proteins. The encoded protein occurs in certain cell types as
either an intracellular, nuclear protein or a secreted protein. The nuclear form, known as structural maintenance
of chromosomes 3, is a component of the multimeric cohesin complex that holds together sister chromatids during
mitosis, enabling proper chromosome segregation. Post-translational modification of the encoded protein by the
addition of chondroitin sulfate chains gives rise to the secreted proteoglycan bamacan, an abundant basement
membrane protein. (provided by RefSeq, Jul 2008)

GeneCards Summary for SMC3 Gene: 
SMC3 (structural maintenance of chromosomes 3) is a protein-coding gene. Diseases associated with SMC3 include smc3-related cornelia de lange syndrome, and cornelia de lange syndrome, and among its related super-pathways are Mitotic Anaphase and Cohesin Loading onto Chromatin. GO annotations related to this gene include microtubule motor activity and protein heterodimerization activity.

UniProtKB/Swiss-Prot: SMC3_HUMAN, Q9UQE7
Function: Central component of cohesin, a complex required for chromosome cohesion during the cell cycle. The
cohesin complex may form a large proteinaceous ring within which sister chromatids can be trapped. At anaphase,
the complex is cleaved and dissociates from chromatin, allowing sister chromatids to segregate. Cohesion is
coupled to DNA replication and is involved in DNA repair. The cohesin complex plays also an important role in
spindle pole assembly during mitosis and in chromosomes movement

Gene Wiki entry for SMC3 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000010.10  NC_018921.2  NT_030059.13  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the SMC3 gene promoter:
         AML1a   CUTL1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSMC3 promoter sequence
   Search SABiosciences Chromatin IP Primers for SMC3

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SMC3


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 10q25   Ensembl cytogenetic band:  10q25.2   HGNC cytogenetic band: 10q25

SMC3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SMC3 gene location

GeneLoc information about chromosome 10         GeneLoc Exon Structure

GeneLoc location for GC10P112318:  view genomic region     (about GC identifiers)

Start:
112,327,449 bp from pter      End:
112,364,394 bp from pter
Size:
36,946 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: SMC3_HUMAN, Q9UQE7 (See protein sequence)
Recommended Name: Structural maintenance of chromosomes protein 3  
Size: 1217 amino acids; 141542 Da
Subunit: Interacts with MXI1, MXD3 and MXD4. Interacts with SYCP2. Found in a complex with SMC1A, CDCA5 and RAD21,
PDS5A/APRIN and PDS5B/SCC-112 (By similarity). Forms a heterodimer with SMC1A or SMC1B in cohesin complexes.
Cohesin complexes are composed of the SMC1 (SMC1A or SMC1B) and SMC3 heterodimer attached via their hinge domain,
RAD21 which link them, and one STAG protein (STAG1, STAG2 or STAG3), which interacts with RAD21. Also found in
meiosis-specific cohesin complexes. Interacts with NUMA1, and forms a ternary complex with KIF3B and KIFAP3,
suggesting a function in tethering the chromosomes to the spindle pole and in chromosome movement. Interacts with
PDS5A and WAPAL; regulated by SMC3 acetylation. Interacts with RPGR (By similarity)
Subcellular location: Nucleus. Chromosome. Chromosome, centromere. Note=Associates with chromatin. Before prophase
it is scattered along chromosome arms. During prophase, most of cohesin complexes dissociate from chromatin
probably because of phosphorylation by PLK, except at centromeres, where cohesin complexes remain. At anaphase,
the RAD21 subunit of the cohesin complex is cleaved, leading to the dissociation of the complex from chromosomes,
allowing chromosome separation. The phosphorylated form at Ser-1083 is preferentially associated with unsynapsed
chromosomal regions (By similarity)
Miscellaneous: Mutated Cornelia de Lange cell lines display genomic instability and sensitivity to ionizing
radiation and interstrand cross-linking agents
Caution: Was originally isolated as a proteoglycan protein (explaining its name). Although not excluded, such
secreted function is not clear
Sequence caution: Sequence=AAD32447.1; Type=Frameshift; Positions=457, 488, 523;
Secondary accessions: A8K156 O60464 Q5T482

Explore the universe of human proteins at neXtProt for SMC3: NX_Q9UQE7

Explore proteomics data for SMC3 at MOPED 

Post-translational modifications:

  • UniProtKB: Phosphorylated at Ser-1083 in a SPO11-dependent manner (By similarity)
  • UniProtKB: Acetylation at Lys-105 and Lys-106 by ESCO1 is important for genome stability and S phase sister chromatid
    cohesion. Regulated by DSCC1, it is required for processive DNA synthesis, coupling sister chromatid cohesion
    establishment during S phase to DNA replication. Deacetylation by HDAC8, regulates release of the cohesin complex
    from chromatin
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9UQE7

  • SMC3 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    SMC3 Protein Expression
    REFSEQ proteins: NP_005436.1  
    ENSEMBL proteins: 
     ENSP00000354720  
    Reactome Protein details: Q9UQE7
    Human Recombinant Protein Products for SMC3: 
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    OriGene Custom MassSpec 
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    Novus Biologicals SMC3 Protein
    Novus Biologicals SMC3 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for SMC3 

    Gene Ontology (GO): 5/14 cellular component terms (GO ID links to tree view) (see all 14):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000775chromosome, centromeric region TAS--
    GO:0000785chromatin IDA16682347
    GO:0000800lateral element IEA--
    GO:0000922spindle pole IDA11590136
    GO:0005604basement membrane TAS9015313

    SMC3 for ontologies           About GeneDecksing



    SMC3 Antibody Products: 
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    Assay Products for SMC3: 
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    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for SMC3 
    Cloud-Clone Corp. CLIAs for SMC3


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    ECMPG: Proteoglycans / Extracellular Matrix : Other
    SMC: Structural maintenance of chromosomes proteins

    3 InterPro protein domains:
     IPR027417 P-loop_NTPase
     IPR003395 RecF/RecN/SMC
     IPR010935 SMC_hinge

    Graphical View of Domain Structure for InterPro Entry Q9UQE7

    ProtoNet protein and cluster: Q9UQE7

    1 Blocks protein domain: IPB010935 SMCs flexible hinge

    UniProtKB/Swiss-Prot: SMC3_HUMAN, Q9UQE7
    Domain: The flexible hinge domain, which separates the large intramolecular coiled coil regions, allows the
    heterotypic interaction with the corresponding domain of SMC1A or SMC1B, forming a V-shaped heterodimer. The two
    heads of the heterodimer are then connected by different ends of the cleavable RAD21 protein, forming a ring
    structure (By similarity)
    Similarity: Belongs to the SMC family. SMC3 subfamily


    SMC3 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: SMC3_HUMAN, Q9UQE7
    Function: Central component of cohesin, a complex required for chromosome cohesion during the cell cycle. The
    cohesin complex may form a large proteinaceous ring within which sister chromatids can be trapped. At anaphase,
    the complex is cleaved and dissociates from chromatin, allowing sister chromatids to segregate. Cohesion is
    coupled to DNA replication and is involved in DNA repair. The cohesin complex plays also an important role in
    spindle pole assembly during mitosis and in chromosomes movement

         Gene Ontology (GO): 5/7 molecular function terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003682chromatin binding IEA--
    GO:0003777microtubule motor activity NAS11590136
    GO:0005515protein binding IPI11590136
    GO:0005524ATP binding IEA--
    GO:0036033mediator complex binding IEA--
         
    SMC3 for ontologies           About GeneDecksing


    Phenotypes:
         7 GenomeRNAi human phenotypes for SMC3:
     Increased S DNA content  Increased Salmonella enterica   Increased Salmonella enterica   Increased Salmonella enterica  
     Increased Salmonella enterica   Increased Salmonella-containin  Increased gamma-H2AX phosphory 

         6 MGI mutant phenotypes (inferred from 1 allele(MGI details for Smc3):
     cellular  craniofacial  growth/size  mortality/aging  reproductive system 
     skeleton 

    SMC3 for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for SMC3 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for SMC3

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for SMC3 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for SMC3 

    miRNA
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    hsa-miR-3163 hsa-miR-582-5p hsa-miR-127-5p
    SwitchGear 3'UTR luciferase reporter plasmidSMC3 3' UTR sequence
    Inhib. RNA
    Products:
        
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    Gene Editing
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    Clone
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    Browse Sino Biological Human cDNA Clones
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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for SMC3 About   (see all 12)                                                                                              See pathways by source

    SuperPathContained pathways About
    1M Phase
    Mitotic Anaphase0.94
    M Phase0.88
    Separation of Sister Chromatids0.94
    Mitotic M-M/G1 phases0.88
    Mitotic Metaphase and Anaphase0.94
    2Cohesin Loading onto Chromatin
    Cohesin Loading onto Chromatin0.71
    Establishment of Sister Chromatid Cohesion0.62
    Mitotic Telophase/Cytokinesis0.71
    3Meiotic Synapsis
    Meiotic Synapsis0.70
    Chromosome Maintenance0.56
    Meiosis0.70
    4Resolution of Sister Chromatid Cohesion
    Resolution of Sister Chromatid Cohesion0.93
    Mitotic Prometaphase0.93
    5Cell Cycle
    Cell Cycle, Mitotic0.84
    Cell Cycle0.84

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    2 EMD Millipore Pathways for SMC3
        Cell cycle Spindle assembly and chromosome separation
    Meiosis


    3 Cell Signaling Technology (CST) Pathways for SMC3
        Chromatin Regulation / Acetylation
    Cell Cycle / Checkpoint Control
    DNA Damage

    1 GeneGo (Thomson Reuters) Pathway for SMC3
        Cell cycle Spindle assembly and chromosome separation

    5/16        Reactome Pathways for SMC3 (see all 16)
        Mitotic Metaphase and Anaphase
    Establishment of Sister Chromatid Cohesion
    Mitotic Prometaphase
    Resolution of Sister Chromatid Cohesion
    Mitotic Telophase/Cytokinesis


    2         Kegg Pathways  (Kegg details for SMC3):
        Cell cycle
    Oocyte meiosis


    SMC3 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for SMC3

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/1017 Interacting proteins for SMC3 (Q9UQE71, 2, 3 ENSP000003547204) via UniProtKB, MINT, STRING, and/or I2D (see all 1017)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    RAD21O602161, 2, 3, ENSP000002973384EBI-80718,EBI-80739 MINT-6178106 MINT-8081286 MINT-8385079 MINT-8081321 MINT-7914988 MINT-6178206 MINT-7945693 MINT-8080160 MINT-6178091 MINT-8081303 MINT-8385100 I2D: score=3 STRING: ENSP00000297338
    ENSG00000183311P074372, 3MINT-7945693 MINT-7947479 I2D: score=1 
    ENSG00000224156P074372, 3MINT-7945693 MINT-7947479 I2D: score=1 
    ENSG00000227739P074372, 3MINT-7945693 MINT-7947479 I2D: score=1 
    ENSG00000229684P074372, 3MINT-7945693 MINT-7947479 I2D: score=1 
    About this table

    Gene Ontology (GO): 5/13 biological process terms (GO ID links to tree view) (see all 13):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000278mitotic cell cycle TAS--
    GO:0000910cytokinesis ----
    GO:0006275regulation of DNA replication IMP19907496
    GO:0006281DNA repair IEA--
    GO:0007052mitotic spindle organization IEP11590136

    SMC3 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    SMC3 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for SMC3

    1 Novoseek inferred chemical compound relationship for SMC3 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    atp 0 3 14614819 (3)

    Search CenterWatch for drugs/clinical trials and news about SMC3

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for SMC3 gene: 
    NM_005445.3  

    Unigene Cluster for SMC3:

    Structural maintenance of chromosomes 3
    Hs.24485  [show with all ESTs]
    Unigene Representative Sequence: NM_005445
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000361804(uc001kze.3) ENST00000462899
    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

    miRNA
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    3 QIAGEN miScript miRNA Assays for microRNAs that regulate SMC3:
    hsa-miR-3163 hsa-miR-582-5p hsa-miR-127-5p
    SwitchGear 3'UTR luciferase reporter plasmidSMC3 3' UTR sequence
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    Additional mRNA sequence: 

    AF020043.1 AF067163.1 AJ005015.1 AK289771.1 AK315845.1 AL360194.1 BC047324.1 

    13 DOTS entries:

    DT.315177  DT.315176  DT.120952383  DT.92435375  DT.121221542  DT.92435366  DT.121221545  DT.121221550 
    DT.75134143  DT.86859024  DT.97846107  DT.40112350  DT.92422397 

    24/211 AceView cDNA sequences (see all 211):

    BU782622 BM456648 AA279157 BG940548 AA694257 AI675561 BC047324 BM453744 
    BQ895984 CR603306 BE646260 BM972985 BM680603 BU170306 BX505550 BQ420420 
    BM464608 BG177565 AI123791 AW771344 BQ477473 AL079814 BG941495 AJ005015 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    SMC3 expression in normal human tissues (normalized intensities)      SMC3 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CTAAATATTC
    SMC3 Expression
    About this image


    SMC3 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/13 selected tissues (see all 13) fully expand
     
     Limb (Muscoskeletal System)    fully expand to see all 3 entries
             Stylopod
             limb/hindlimb   
     
     Blood (Hematopoietic System)    fully expand to see all 3 entries
             cd8+ t cell   
     
     Brain (Nervous System)    fully expand to see all 2 entries
             Cerebral Cortex
             brain/midbrain   
     
     Lower Urinary Tract (Urinary System)
             visceral organ   
     
     Cartilage (Muscoskeletal System)
             Cultured cartilage (JACC®)

    See SMC3 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for SMC3

    SOURCE GeneReport for Unigene cluster: Hs.24485
        SABiosciences Custom PCR Arrays for SMC3
    Primer
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    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat SMC3
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SMC3

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for SMC3 gene from 10/28 species (see all 28)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Smc31 , 5 structural maintenance of chromosomes 31, 5 91.1(n)1
    99.92(a)1
      19 (48.13 cM)5
    130061  NM_007790.31  NP_031816.21 
     536003985 
    chicken
    (Gallus gallus)
    Aves SMC31 structural maintenance of chromosomes 3 84.69(n)
    99.34(a)
      395188  NM_204517.1  NP_989848.1 
    lizard
    (Anolis carolinensis)
    Reptilia SMC36
    Uncharacterized protein
    97(a)
    1 ↔ 1
    3(45432690-45467583)
    African clawed frog
    (Xenopus laevis)
    Amphibia smc32 structural maintenance of chromosomes protein 3 80.56(n)    AJ535316.1 
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.249372 Danio rerio mRNA similar to chondroitin sulfate proteoglycan more 78.6(n)    BC044408.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Cap1 Chromosome-associated protein 54.33(n)
    54.39(a)
      32627  NM_078650.2  NP_523374.2 
    worm
    (Caenorhabditis elegans)
    Secernentea smc-31 Protein SMC-3 50.25(n)
    42.03(a)
      176559  NM_001136370.1  NP_001129842.1 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes SMC3(YJL074C)4
    SMC31
    Subunit of the multiprotein cohesin complex required more4
    Smc3p1
    48.19(n)1
    34.58(a)1
      10(302849-299157)4
    8533711, 4  NP_012461.11, 4 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons TTN71 structural maintenance of chromosome 3 (chondroitin more 51.26(n)
    40.45(a)
      817259  NM_128275.4  NP_180285.4 
    rice
    (Oryza sativa)
    Liliopsida Os.211092 Oryza sativa mRNA for SMC3 protein 72.67(n)    AJ535211.1 


    ENSEMBL Gene Tree for SMC3 (if available)
    TreeFam Gene Tree for SMC3 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for SMC3 gene
    1 SIMAP similar gene for SMC3 using alignment to 2 protein entries:     SMC3_HUMAN (see all proteins):
    SMC2

    SMC3 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for SMC3
    PGOHUM00000240814


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/1026 SNPs in SMC3 are shown (see all 1026)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 10 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs3718819831,2
    C--105961129(+) TAAAT-/AAAAAA 1 -- int10--------
    rs105315241,2
    C--105985071(+) ATGAA-/TTTTTTT 1 -- int10--------
    rs2004869221,2
    C--105986472(+) GTCTC-/AAAAAAAA 1 -- int10--------
    rs1461529941,2
    C--112326076(+) CTGTC-/AAAAAAA 1 -- us2k10--------
    rs586596151,2
    C--112326090(+) AAAAA-/AAGTTAG 1 -- us2k11Minor allele frequency- AA:0.00NA 2
    rs557508611,2
    C--112327678(+) CTCTCA/-CCCTG 1 -- int11Minor allele frequency- -:0.00NA 2
    rs679471011,2
    C--112327679(+) TCTCC-/ACCTGT 1 -- int10--------
    rs351327791,2
    C--112328525(+) TTTTT-/T/TTT 
            
    AGCAG
    2 -- int1 cds10--------
    rs107082891,2
    C,F--112330189(+) CATAC-/TTTTTT 1 -- int1 trp33Minor allele frequency- T:0.33NA CSA 6
    rs724252111,2
    C--112331529(+) ATATA-/TTTAAATAAA
    AATGGGTTCATT
    TTTAA
    1 -- int10--------

    HapMap Linkage Disequilibrium report for SMC3 (112327449 - 112364394 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 4 variations for SMC3:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv508607CNV Loss20534489
    nsv467454CNV Gain19166990
    nsv526452CNV Gain19592680
    nsv7211OTHER Inversion18451855


    Human Gene Mutation Database (HGMD): SMC3

    Locus Specific Mutation Databases (LSDB): SMC3
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing SMC3
    DNA2.0 Custom Variant and Variant Library Synthesis for SMC3

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 606062   
    OMIM disorders: 610759  
    UniProtKB/Swiss-Prot: SMC3_HUMAN, Q9UQE7
  • Cornelia de Lange syndrome 3 (CDLS3) [MIM:610759]: A form of Cornelia de Lange syndrome, a clinically
    heterogeneous developmental disorder associated with malformations affecting multiple systems. Characterized by
    facial dysmorphisms, abnormal hands and feet, growth delay, cognitive retardation, hirsutism, gastroesophageal
    dysfunction and cardiac, ophthalmologic and genitourinary anomalies. Cornelia de Lange syndrome type 3 is a mild
    form with absence of major structural anomalies. The phenotype in some instances approaches that of apparently
    non-syndromic mental retardation. Note=The disease is caused by mutations affecting the gene represented in this
    entry

  • 20/21 diseases for SMC3 (see all 21):    About MalaCards
    smc3-related cornelia de lange syndrome    cornelia de lange syndrome    sc phocomelia syndrome    roberts syndrome
    ataxia telangiectasia    vaccinia    thalassemia    intellectual disability
    retinitis pigmentosa    gingivitis    ataxia    periodontitis
    retinitis    kaposi's sarcoma    mental retardation    pneumonia
    schizophrenia    tuberculosis    sarcoma    alzheimer's disease

    4 diseases from the University of Copenhagen DISEASES database for SMC3:
    Cornelia de Lange syndrome     Roberts syndrome     SC phocomelia syndrome     Intellectual disability

    SMC3 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    2 Novoseek inferred disease relationships for SMC3 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    colon carcinoma 40.1 4 10801778 (2), 12651860 (1), 16156898 (1)
    tumors 0 1 10801778 (1)

    Genetic Association Database (GAD): SMC3
    Human Genome Epidemiology (HuGE) Navigator: SMC3 (2 documents)

    Export disorders for SMC3 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for SMC3 gene, integrated from 9 sources (see all 135):
    (articles sorted by number of sources associating them with SMC3)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Complex formation of SMAP/KAP3, a KIF3A/B ATPase motor-associated protein, with a human chromosome-associated polypeptide. (PubMed id 9506951)1, 2, 3 Shimizu K.... Takai Y. (1998)
    2. Cornelia de Lange syndrome mutations in SMC1A or SMC3 affect binding to DNA. (PubMed id 18996922)1, 2, 9 Revenkova E....Musio A. (2009)
    3. Mutations and variants in the cohesion factor genes N IPBL, SMC1A, and SMC3 in a cohort of 30 unrelated patients with Cornelia de Lan ge syndrome. (PubMed id 20358602)1, 4, 9 PiAc J....Ramos F.J. (2010)
    4. Mutations in cohesin complex members SMC3 and SMC1A cause a mild variant of Cornelia de Lange syndrome with predominant mental retardation. (PubMed id 17273969)1, 2, 9 Deardorff M.A....Krantz I.D. (2007)
    5. Cohesin acetylation speeds the replication fork. (PubMed id 19907496)1, 2 Terret M.E....Jallepalli P.V. (2009)
    6. Acetylation of Smc3 by Eco1 is required for S phase sister chromatid cohesion in both human and yeast. (PubMed id 18614053)1, 2 Zhang J....Qin J. (2008)
    7. A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease. (PubMed id 16385451)1, 4 Grupe A....Goate A. (2006)
    8. Sororin, a substrate of the anaphase-promoting complex, is required for sister chromatid cohesion in vertebrates. (PubMed id 15837422)1, 2 Rankin S.... Kirschner M.W. (2005)
    9. The DNA sequence and comparative analysis of human chromosome 10. (PubMed id 15164054)1, 2 Deloukas P.... Rogers J. (2004)
    10. A potential role for human cohesin in mitotic spindle aster assembly. (PubMed id 11590136)1, 2 Gregson H.C....Yokomori K. (2001)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 9126 HGNC: 2468 AceView: CSPG6 Ensembl:ENSG00000108055 euGenes: HUgn9126
    ECgene: SMC3 Kegg: 9126 H-InvDB: SMC3

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for SMC3 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for SMC3 gene:
    Search GeneIP for patents involving SMC3

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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    About This Section

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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 3 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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