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SMC3 Gene

protein-coding   GIFtS: 65
GCID: GC10P112318

Structural Maintenance Of Chromosomes 3

(Previous name: chondroitin sulfate proteoglycan 6 (bamacan))
(Previous symbol: CSPG6)
  See SMC3-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)
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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, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 cornelia de lange syndrome 3, and smc3-related cornelia de lange syndrome. 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000010.10  NC_018921.2  NT_030059.14  
Regulatory elements:
   Regulatory transcription factor binding sites in the SMC3 gene promoter:
         AML1a   CUTL1   
         Other transcription factors

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

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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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)
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: 

  • Phosphorylated at Ser-1083 in a SPO11-dependent manner (By similarity)1
  • 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 chromatin1
  • Ubiquitination2 at Lys26, Lys188, Lys194, Lys215, Lys956, Lys963, Lys1012, Lys1025, Lys1034, Lys1038,
                                 Lys1190
  • Modification sites at PhosphoSitePlus

  • See SMC3 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_005436.1  
    ENSEMBL proteins: 
     ENSP00000354720  
    Reactome Protein details: Q9UQE7

    SMC3 Human Recombinant Protein Products:

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    Novus Biologicals SMC3 Protein
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    Cloud-Clone Corp. Proteins for SMC3

     
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    SMC3 Antibody Products:

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    LSBio Antibodies in human, mouse, rat for SMC3

    SMC3 Assay Products:

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    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for SMC3
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    Search eBioscience for ELISAs for SMC3 


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

    3 InterPro protein domains:
     IPR003395 RecF/RecN/SMC_N
     IPR027417 P-loop_NTPase
     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


    Find genes that share domains with SMC3           About GenesLikeMe


    (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,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    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): Selected molecular function terms (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--
         
    Find genes that share ontologies with SMC3           About GenesLikeMe


    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 

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

    Find genes that share phenotypes with SMC3           About GenesLikeMe

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for SMC3
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models 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
    Products:
        
    miRTarBase miRNAs that target SMC3:
    hsa-mir-193b-3p (MIRT041357), hsa-mir-196a-5p (MIRT026077), hsa-mir-615-3p (MIRT040180), hsa-mir-340-5p (MIRT019626), hsa-mir-92a-3p (MIRT049364)

    Block miRNA regulation of human, mouse, rat SMC3 using miScript Target Protectors
    3 qRT-PCR 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
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for SMC3
    Predesigned siRNA for gene silencing in human, mouse, rat SMC3

    Gene Editing
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    Clone
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    OriGene clones in human, mouse for SMC3 (see all 7)
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    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: SMC3 (NM_002804)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for SMC3
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SMC3

    Cell Line
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    Browse ESI BIO Cell Lines and PureStem Progenitors for SMC3 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SMC3


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    SMC3_HUMAN, Q9UQE7: 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)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytoskeleton5
    nucleus5
    cytosol4
    extracellular4
    mitochondrion1

    Gene Ontology (GO): Selected cellular component terms (see all 15):    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

    Find genes that share ontologies with SMC3           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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    SuperPaths for SMC3 About   (see all 14)  
    See pathways by source

    SuperPathContained pathways About
    1Mitotic Metaphase and Anaphase
    Mitotic Anaphase0.94
    Mitotic Metaphase and Anaphase0.93
    Separation of Sister Chromatids0.94
    2Cell Cycle, Mitotic
    Cell Cycle, Mitotic0.90
    M Phase0.62
    Cell Cycle0.90
    3Mitotic Prometaphase
    Mitotic Prometaphase0.92
    Resolution of Sister Chromatid Cohesion0.92
    4CDK-mediated phosphorylation and removal of Cdc6
    S Phase0.78
    Establishment of Sister Chromatid Cohesion0.00
    5Packaging Of Telomere Ends
    Meiotic Synapsis0.66
    Chromosome Maintenance0.62


    Find genes that share SuperPaths with SMC3           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    Selected Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for SMC3 (see all 14)
        MAPK Signaling
    Molecular Mechanisms of Cancer
    PTEN Pathway
    Transendothelial Migration of Leukocytes
    UPA-UPAR Pathway

    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

    1 BioSystems Pathway for SMC3
        RB in Cancer

    5 Reactome Pathways for SMC3
        Cohesin Loading onto Chromatin
    Establishment of Sister Chromatid Cohesion
    Resolution of Sister Chromatid Cohesion
    Separation of Sister Chromatids
    Meiotic synapsis


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

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for SMC3
    Interactions:

        GeneGlobe Interaction Network for SMC3

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

    Selected Interacting proteins for SMC3 (Q9UQE71, 2, 3 ENSP000003547204) via UniProtKB, MINT, STRING, and/or I2D (see all 1103)
    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 
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    Gene Ontology (GO): Selected biological process terms (see all 11):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000278mitotic cell cycle TAS--
    GO:0006275regulation of DNA replication IMP19907496
    GO:0006281DNA repair IEA--
    GO:0007052mitotic spindle organization IEP11590136
    GO:0007062sister chromatid cohesion NAS11590136

    Find genes that share ontologies with SMC3           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    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)



    Find genes that share compounds with SMC3           About GenesLikeMe



    (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,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    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
    miRNA
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    SwitchGear 3'UTR luciferase reporter plasmidSMC3 3' UTR sequence
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      QuantiTect SYBR Green Assays in human, mouse, rat SMC3
      QuantiFast Probe-based Assays in human, mouse, rat SMC3

    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 

    Selected AceView cDNA sequences (see all 211):

    BM464608 CR603306 BQ420420 CB134667 AL079814 BU634323 BM680603 BQ181255 
    BG942112 BG941495 AA694257 BU782622 BF970613 AJ005015 BC047324 BQ477473 
    BG940548 AF020043 AI123791 AL538799 BU170306 BG177565 BE646260 BM453744 

    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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    SMC3 expression in normal human tissues (normalized intensities)
    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
     selected tissues (see all 4) fully expand
     
     Limb (Muscoskeletal System)
             Stylopod
     
     Cartilage (Muscoskeletal System)
             Cultured cartilage (JACC®)
     
     Neural Tube (Nervous System)
             Telencephalon
     
     Brain (Nervous System)
             Cerebral Cortex
    SMC3 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    SMC3 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.24485
        Custom PCR Arrays for SMC3
    Primer
    Products:
    OriGene qPCR primer pairs and template standards for SMC3
    OriGene qSTAR qPCR primer pairs in human, mouse for SMC3
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    QuantiTect SYBR Green Assays in human, mouse, rat SMC3
    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)
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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for SMC3 gene from Selected species (see all 27)    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
    structural maintenance of chromosomes 3
    98(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 54.09(n)
    54.26(a)
      32627  NM_078650.2  NP_523374.2 
    worm
    (Caenorhabditis elegans)
    Secernentea smc-31 smc-3 50.49(n)
    42.08(a)
      176559  NM_001268189.1  NP_001255118.1 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes SMC3(YJL074C)4
    SMC31
    Subunit of the multiprotein cohesin complex required more4
    SMC31
    48.26(n)1
    35(a)1
      10(302849-299157)4
    8533711, 4  NP_012461.11, 4 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons TTN71 TTN7 51.21(n)
    40.28(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)
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    Paralogs for SMC3 gene
    1 SIMAP similar gene for SMC3 using alignment to 2 protein entries:     SMC3_HUMAN (see all proteins):
    SMC2

    Find genes that share paralogs with SMC3           About GenesLikeMe


    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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for SMC3 (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

    Site Specific Mutation Identification with 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, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

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    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

  • 7 diseases for SMC3:    
    About MalaCards
    cornelia de lange syndrome 3    smc3-related cornelia de lange syndrome    cornelia de lange syndrome    sc phocomelia syndrome
    cornelia de lange syndrome 1    phocomelia    roberts syndrome

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

    Find genes that share disorders with SMC3           About GenesLikeMe

    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)
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    PubMed articles for SMC3 gene, integrated from 10 sources (see all 137):
    (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. (J. Biol. Chem. 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. (Hum. Mol. Genet. 2009)
    3. Mutations and variants in the cohesion factor genes NIPBL, SMC1A, and SMC3 in a cohort of 30 unrelated patients with Cornelia de Lange syndrome. (PubMed id 20358602)1, 4, 9 Pie J....Ramos F.J. (Am. J. Med. Genet. A 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. (Am. J. Hum. Genet. 2007)
    5. Cohesin acetylation speeds the replication fork. (PubMed id 19907496)1, 2 Terret M.E.... Jallepalli P.V. (Nature 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. (Mol. Cell 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. (Am. J. Hum. Genet. 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. (Mol. Cell 2005)
    9. The DNA sequence and comparative analysis of human chromosome 10. (PubMed id 15164054)1, 2 Deloukas P.... Rogers J. (Nature 2004)
    10. A potential role for human cohesin in mitotic spindle aster assembly. (PubMed id 11590136)1, 2 Gregson H.C....Yokomori K. (J. Biol. Chem. 2001)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     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

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    Entrez Gene: 9126 HGNC: 2468 AceView: CSPG6 Ensembl:ENSG00000108055 euGenes: HUgn9126
    ECgene: SMC3 Kegg: 9126 H-InvDB: SMC3

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    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

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    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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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