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SMC2 Gene

protein-coding   GIFtS: 62
GCID: GC09P106856

Structural Maintenance Of Chromosomes 2

(Previous names: SMC2 (structural maintenance of chromosomes 2, yeast)-like...)
(Previous symbol: SMC2L1)
Microbiology & Infectious Diseases Congress
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(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 21 2     XCAP-E Homolog2 3
SMC2L11 2 3     SMC2 Structural Maintenance Of Chromosomes 2-Like 1 (Yeast)1
CAPE2 3 5     CAP-E2
SMC2 (Structural Maintenance Of Chromosomes 2, Yeast)-Like 11 2     Structural Maintenance Of Chromosomes (SMC) Family Member,
Chromosome-Associated Protein E2
Chromosome-Associated Protein E2 3     Structural Maintenance Of Chromosomes Protein 22
SMC-22 3     hCAP-E3
SMC Protein 22 3     

External Ids:    HGNC: 140111   Entrez Gene: 105922   Ensembl: ENSG000001368247   OMIM: 6055765   UniProtKB: O953473   

Export aliases for SMC2 gene to outside databases

Previous GC identifers: GC09P105896 GC09P076458


(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 SMC2 Gene:
Members of the structural maintenance of chromosomes, or SMC, family (e.g., SMC1A; MIM 300040) are critical for
mitotic chromosome condensation in frogs and for DNA repair in mammals.(supplied by OMIM, Nov 2010)

GeneCards Summary for SMC2 Gene:
SMC2 (structural maintenance of chromosomes 2) is a protein-coding gene. Diseases associated with SMC2 include smith-mccort dysplasia 2, and pleural empyema. GO annotations related to this gene include protein heterodimerization activity.

UniProtKB/Swiss-Prot: SMC2_HUMAN, O95347
Function: Central component of the condensin complex, a complex required for conversion of interphase chromatin
into mitotic-like condense chromosomes. The condensin complex probably introduces positive supercoils into
relaxed DNA in the presence of type I topoisomerases and converts nicked DNA into positive knotted forms in the
presence of type II topoisomerases

Gene Wiki entry for SMC2 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:
NC_000009.12  NT_008470.20  NC_018920.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the SMC2 gene promoter:
         GATA-6   AP-1   ATF-2   RelA   c-Jun   C/EBPalpha   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSMC2 promoter sequence
   Search Chromatin IP Primers for SMC2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat SMC2


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

Entrez Gene cytogenetic band: 9q31.1   Ensembl cytogenetic band:  9q31.1   HGNC cytogenetic band: 9q31.1

SMC2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SMC2 gene location

GeneLoc information about chromosome 9         GeneLoc Exon Structure

GeneLoc location for GC09P106856:  view genomic region     (about GC identifiers)

Start:
106,856,541 bp from pter      End:
106,903,700 bp from pter
Size:
47,160 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, 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., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: SMC2_HUMAN, O95347 (See protein sequence)
Recommended Name: Structural maintenance of chromosomes protein 2  
Size: 1197 amino acids; 135656 Da
Subunit: Forms a heterodimer with SMC4. Component of the condensin complex, which contains the SMC2 and SMC4
heterodimer, and three non SMC subunits that probably regulate the complex: BRRN1/CAPH, CNAP1/CAPD2 and CAPG.
Interacts with BRD4 (isoform B), leading to insulate chromatin from DNA damage response pathway
Sequence caution: Sequence=AAC72360.1; Type=Frameshift; Positions=890, 908; Sequence=AAF29579.1; Type=Erroneous
initiation;
Secondary accessions: Q6IEE0 Q9P1P2
Alternative splicing: 2 isoforms:  O95347-1   O95347-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for SMC2: NX_O95347

Explore proteomics data for SMC2 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys12, Lys68, Lys114, Lys523, Lys580, Lys958, Lys1178
  • Modification sites at PhosphoSitePlus

  • See SMC2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (4 alternative transcripts): 
    NP_001036015.1  NP_001036016.1  NP_001252531.1  NP_006435.2  

    ENSEMBL proteins: 
     ENSP00000414999   ENSP00000363925   ENSP00000363919   ENSP00000431534   ENSP00000286398  
     ENSP00000306152  
    Reactome Protein details: O95347

    SMC2 Human Recombinant Protein Products:

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    Cloud-Clone Corp. Proteins for SMC2

    SMC2 Antibody Products:

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

    5 InterPro protein domains:
     IPR003395 RecF/RecN/SMC_N
     IPR027417 P-loop_NTPase
     IPR024704 SMC
     IPR010935 SMC_hinge
     IPR027120 Smc2

    Graphical View of Domain Structure for InterPro Entry O95347

    ProtoNet protein and cluster: O95347

    1 Blocks protein domain: IPB010935 SMCs flexible hinge

    UniProtKB/Swiss-Prot: SMC2_HUMAN, O95347
    Domain: The hinge domain, which separates the large intramolecular coiled coil regions, allows the
    heterodimerization with SMC4, forming a V-shaped heterodimer (By similarity)
    Similarity: Belongs to the SMC family. SMC2 subfamily


    SMC2 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,
    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, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: SMC2_HUMAN, O95347
    Function: Central component of the condensin complex, a complex required for conversion of interphase chromatin
    into mitotic-like condense chromosomes. The condensin complex probably introduces positive supercoils into
    relaxed DNA in the presence of type I topoisomerases and converts nicked DNA into positive knotted forms in the
    presence of type II topoisomerases

         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI12589063
    GO:0005524ATP binding IEA--
    GO:0046982protein heterodimerization activity IPI9789013
         
    SMC2 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for SMC2:
     Decreased viability 

         1 MGI phenotypic allele for Smc2 (no phenotypes)

    SMC2 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Smc2tm1Lex for SMC2

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for SMC2
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for SMC2

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for SMC2
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for SMC2

    miRNA
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    miRTarBase miRNAs that target SMC2:
    hsa-mir-192-5p (MIRT026232), hsa-mir-125b-5p (MIRT046008), hsa-mir-215-5p (MIRT024482)

    Block miRNA regulation of human, mouse, rat SMC2 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate SMC2 (see all 11):
    hsa-miR-3163 hsa-miR-7-2* hsa-miR-211 hsa-miR-570 hsa-miR-204 hsa-miR-7-1* hsa-miR-3151 hsa-miR-3143
    SwitchGear 3'UTR luciferase reporter plasmidSMC2 3' UTR sequence
    Inhib. RNA
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    OriGene RNAi products in human, mouse, rat for SMC2
    Predesigned siRNA for gene silencing in human, mouse, rat SMC2

    Gene Editing
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    GenScript: all cDNA clones in your preferred vector (see all 2): SMC2 (NM_001204453)
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SMC2

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SMC2


    (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
    SMC2_HUMAN, O95347: Nucleus. Cytoplasm. Chromosome. Note=In interphase cells, the majority of the condensin
    complex is found in the cytoplasm, while a minority of the complex is associated with chromatin. A subpopulation
    of the complex however remains associated with chromosome foci in interphase cells. During mitosis, most of the
    condensin complex is associated with the chromatin. At the onset of prophase, the regulatory subunits of the
    complex are phosphorylated by CDC2, leading to condensin's association with chromosome arms and to chromosome
    condensation. Dissociation from chromosomes is observed in late telophase
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    cytosol4
    mitochondrion2
    peroxisome1

    Gene Ontology (GO): Selected cellular component terms (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000228nuclear chromosome IDA10958694
    GO:0000793condensed chromosome IDA12589063
    GO:0000796condensin complex IDA10958694
    GO:0005634nucleus IDA12589063
    GO:0005654nucleoplasm TAS--

    SMC2 for ontologies           About GeneDecksing


    (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 SMC2 About   (see all 8)  
    See pathways by source

    SuperPathContained pathways About
    1Cell Cycle, Mitotic
    Cell Cycle, Mitotic0.90
    M Phase0.62
    Cell Cycle0.90
    2Mitotic Prometaphase
    Mitotic Prometaphase0.92
    Condensation of Prometaphase Chromosomes0.00
    3RNA Polymerase I Promoter Opening
    Condensation of Prophase Chromosomes0.78
    Mitotic Prophase0.56
    4Cell Cycle / Checkpoint Control
    Cell Cycle / Checkpoint Control0.32
    DNA Damage0.32
    5RB in Cancer
    RB in Cancer

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 Downloadable PowerPoint Slide of GeneGlobe Pathway Central Maps for SMC2
        ATM Pathway

    3 Cell Signaling Technology (CST) Pathways for SMC2
        Chromatin Regulation / Acetylation
    Cell Cycle / Checkpoint Control
    DNA Damage

    1 GeneGo (Thomson Reuters) Pathway for SMC2
        Cell cycle Chromosome condensation in prometaphase

    2 BioSystems Pathways for SMC2
        RB in Cancer
    Aurora B signaling

    2 Reactome Pathways for SMC2
        Condensation of Prophase Chromosomes
    Condensation of Prometaphase Chromosomes



    SMC2 for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for SMC2
    Interactions:

        GeneGlobe Interaction Network for SMC2

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

    Selected Interacting proteins for SMC2 (O953471, 2, 3 ENSP000002863984) via UniProtKB, MINT, STRING, and/or I2D (see all 1006)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SMC4Q9NTJ31, 2, 3, ENSP000003413824EBI-355822,EBI-356173 MINT-7945693 MINT-4330025 MINT-4329866 MINT-7947479 I2D: score=9 STRING: ENSP00000341382
    NCAPH2Q6IBW41, 2, 3, ENSP000004100884EBI-355822,EBI-2548296 MINT-4330039 MINT-4330003 I2D: score=1 STRING: ENSP00000410088
    NCAPD2Q150212, 3, ENSP000003250174MINT-4330014 MINT-7945693 MINT-7947479 I2D: score=7 STRING: ENSP00000325017
    SMC3Q9UQE72, 3, ENSP000003547204MINT-7945693 MINT-7947479 MINT-8395092 I2D: score=4 STRING: ENSP00000354720
    NDC80O147772, 3, ENSP000002615974MINT-7945693 MINT-7947479 I2D: score=3 STRING: ENSP00000261597
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000278mitotic cell cycle TAS--
    GO:0006281DNA repair IEA--
    GO:0006310DNA recombination IEA--
    GO:0007076mitotic chromosome condensation IDA11136719
    GO:0010032meiotic chromosome condensation IEA--

    SMC2 for ontologies           About GeneDecksing



    (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 SMC2



    (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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for SMC2 gene (4 alternative transcripts): 
    NM_001042550.1  NM_001042551.1  NM_001265602.1  NM_006444.2  

    Unigene Cluster for SMC2:

    Structural maintenance of chromosomes 2
    Hs.119023  [show with all ESTs]
    Unigene Representative Sequence: NM_001042550
    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000440179 ENST00000374793(uc004bbx.3 uc004bby.3) ENST00000374787
    ENST00000493955 ENST00000286398(uc010mtg.1 uc010mth.1 uc004bbu.1 uc004bbv.3 uc004bbw.3 uc011lvl.2)
    ENST00000303219
    Congresses - knowledge worth sharing:
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

    miRNA
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    Block miRNA regulation of human, mouse, rat SMC2 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate SMC2 (see all 11):
    hsa-miR-3163 hsa-miR-7-2* hsa-miR-211 hsa-miR-570 hsa-miR-204 hsa-miR-7-1* hsa-miR-3151 hsa-miR-3143
    SwitchGear 3'UTR luciferase reporter plasmidSMC2 3' UTR sequence
    Inhib. RNA
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    GenScript: all cDNA clones in your preferred vector (see all 2): SMC2 (NM_001204453)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for SMC2
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SMC2
    Primer
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    OriGene qSTAR qPCR primer pairs in human, mouse for SMC2
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat SMC2
      QuantiTect SYBR Green Assays in human, mouse, rat SMC2
      QuantiFast Probe-based Assays in human, mouse, rat SMC2

    Additional mRNA sequence: 

    AF092563.1 AJ420415.1 AJ420453.1 AK000955.1 AK001485.1 AK124957.1 AK292599.1 AK307752.1 
    AL833191.1 AY739716.1 BC003396.1 BC017845.1 BC032705.1 BC055081.1 BC061906.1 BC071750.1 
    BC107891.1 BC130385.1 BC144163.1 U46075.1 

    12 DOTS entries:

    DT.91769211  DT.40123755  DT.91769208  DT.97858951  DT.121188688  DT.100786034  DT.99958410  DT.100786041 
    DT.100655211  DT.100725608  DT.95233620  DT.95374504 

    Selected AceView cDNA sequences (see all 206):

    Z44045 CR607728 AA430089 N63376 AK124957 BE881875 AI769894 AU133674 
    AK000955 AA135965 BP367128 BG576240 AL833029 BQ921497 BQ437322 BM453914 
    AI065097 CB158802 BU663246 BM785366 AF113673 AW504314 AI911543 CB139943 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for SMC2 (see all 16)    About this scheme

    ExUns: 1a · 1b · 1c · 1d · 1e · 1f ^ 2a · 2b · 2c ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7a · 7b ^ 8 ^ 9a · 9b ^ 10a · 10b ^ 11a · 11b ^ 12 ^ 13 ^ 14 ^
    SP1:                                                                                                                                                            
    SP2:                                                                                                                                                            
    SP3:                                                                                                                                                            
    SP4:                                      -     -     -                                                                                                         
    SP5:                                                                                                                                                            

    ExUns: 15a · 15b ^ 16 ^ 17 ^ 18 ^ 19a · 19b · 19c ^ 20a · 20b ^ 21 ^ 22a · 22b ^ 23 ^ 24a · 24b ^ 25a · 25b
    SP1:                                                                                                            
    SP2:                                                                                                            
    SP3:                                                                                                            
    SP4:                                                                                                            
    SP5:                                                                                                            


    ECgene alternative splicing isoforms for SMC2

    (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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    SMC2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    SMC2 Expression
    About this image


    SMC2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 13) fully expand
     
     Neural Tube (Nervous System)    fully expand to see all 7 entries
             Metencephalon
     
     Brain (Nervous System)    fully expand to see all 5 entries
             Cerebral Cortex
     
     Limb (Muscoskeletal System)    fully expand to see all 2 entries
             Prechondrocytic Mesenchymal Cells Zeugopod
             Limb Bud
     
     Thymus (Hematopoietic System)
             Thymus
     
     Gut Tube (Gastrointestinal Tract)
             Foregut
    SMC2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    SMC2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.119023
        Custom PCR Arrays for SMC2
    Primer
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    In Situ
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    (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 SMC2 gene from Selected species (see all 28)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Smc21 , 5 structural maintenance of chromosomes 21, 5 88.82(n)1
    92.18(a)1
      4 (28.31 cM)5
    142111  NM_008017.31  NP_032043.31 
     524392435 
    chicken
    (Gallus gallus)
    Aves SMC21 structural maintenance of chromosomes 2 71.27(n)
    67.6(a)
      396156  NM_205230.1  NP_990561.1 
    lizard
    (Anolis carolinensis)
    Reptilia SMC26
    structural maintenance of chromosomes 2
    77(a)
    1 ↔ 1
    GL343476.1(354934-393706)
    African clawed frog
    (Xenopus laevis)
    Amphibia XCAP-E2 (XCAP-E) 77.92(n)    U13674.1 
    zebrafish
    (Danio rerio)
    Actinopterygii hmzeh16282 hmzeh1628 75.45(n)   321452  BC044141.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta SMC21 SMC2 51.12(n)
    41.32(a)
      36653  NM_137151.3  NP_610995.1 
    worm
    (Caenorhabditis elegans)
    Secernentea mix-16
    Protein MIX-1 (mix-1) mRNA, complete cds
    31(a)
    1 ↔ 1
    II(10824295-10841823) WBGene00003367
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes SMC2(YFR031C)4
    SMC21
    Subunit of the condensin complex; essential SMC chromosomal more4
    SMC21
    48.75(n)1
    38.17(a)1
      6(220106-216594)4
    8505891, 4  NP_116687.11, 4 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons SMC21 SMC2 54.63(n)
    46.29(a)
      836362  NM_125635.2  NP_201047.1 
    rice
    (Oryza sativa)
    Liliopsida CA763560.12   -- 70.9(n)    CA763560.1 


    ENSEMBL Gene Tree for SMC2 (if available)
    TreeFam Gene Tree for SMC2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for SMC2 gene
    1 SIMAP similar gene for SMC2 using alignment to 10 protein entries:     SMC2_HUMAN (see all proteins):
    SMC3

    SMC2 for paralogs           About GeneDecksing



    (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 SMC2 (see all 1323)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 9 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs105123261,2
    C,F,A,H--106854545(-) TCTAAC/TTACTC 3 -- us2k129Minor allele frequency- T:0.41NS EA NA CSA WA 2864
    rs109911031,2
    C,F,A,H--106854593(+) AACAAC/TAGTGC 3 -- us2k128Minor allele frequency- T:0.42NS EA NA CSA WA 3174
    rs109911041,2
    C,F,H--106854605(+) CTTGTG/ATATGT 3 -- us2k123Minor allele frequency- A:0.11NS EA NA WA 2732
    rs1132266871,2
    C,F--106854705(+) CACTTT/CATTTC 3 -- us2k12Minor allele frequency- C:0.03CSA WA 120
    rs13601761,2
    C,F,A,H--106854716(-) TGTCAA/CGTTGT 3 -- us2k1 tfbs330Minor allele frequency- C:0.10MN NS EA NA WA CSA 3642
    rs1429078521,2
    --106854779(+) TAAAAC/GGAAGG 3 -- us2k10--------
    rs1161239851,2
    C,F--106854940(+) GTGGAT/GAAGCA 4 -- us2k11Minor allele frequency- G:0.02WA 118
    rs14111031,2
    C,F,O,A,H--106854958(-) CCTTTA/GTTTAC 4 -- us2k128Minor allele frequency- G:0.11EA NA MN NS WA CSA 4087
    rs764612591,2
    C--106855005(+) TTACTA/CCCTTA 4 -- us2k10--------
    rs1451671251,2
    C--106855042(+) CCATTC/TCTGGT 4 -- us2k10--------

    HapMap Linkage Disequilibrium report for SMC2 (106856541 - 106903700 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 4 variations for SMC2:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2738869CNV Deletion23290073
    esv26670CNV Loss19812545
    nsv831676CNV Gain17160897
    nsv893668CNV Gain21882294

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing SMC2
    DNA2.0 Custom Variant and Variant Library Synthesis for SMC2

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 605576    OMIM disorders: --

    11 diseases for SMC2:    
    About MalaCards
    smith-mccort dysplasia 2    pleural empyema    cornelia de lange syndrome    cleft palate
    brain cancer    malaria    pneumonia    schizophrenia
    tuberculosis    hiv-1    cerebritis

    1 disease from the University of Copenhagen DISEASES database for SMC2:
    Cornelia de Lange syndrome

    SMC2 for disorders           About GeneDecksing

    Genetic Association Database (GAD): SMC2

    Export disorders for SMC2 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 SMC2 gene, integrated from 10 sources (see all 55):
    (articles sorted by number of sources associating them with SMC2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Identification of two distinct human SMC protein complexes involved in mitotic chromosome dynamics. (PubMed id 9789013)1, 2, 3 Schmiesing J.A....Yokomori K. (Proc. Natl. Acad. Sci. U.S.A. 1998)
    2. A human condensin complex containing hCAP-C-hCAP-E and CNAP1, a homolog of Xenopus XCAP-D2, colocalizes with phosphorylated histone H3 during the early stage of mitotic chromosome condensation. (PubMed id 10958694)1, 2, 9 Schmiesing J.A.... Yokomori K. (Mol. Cell. Biol. 2000)
    3. The evolution of SMC proteins: phylogenetic analysis and structural implications. (PubMed id 14660695)1, 2 Cobbe N. and Heck M.M.S. (Mol. Biol. Evol. 2004)
    4. Chromosome condensation by a human condensin complex in Xenopus egg extracts. (PubMed id 11136719)1, 2 Kimura K.... Hirano T. (J. Biol. Chem. 2001)
    5. Condensin mutations and abnormal chromosomal structures in pyothorax-associated lymphoma. (PubMed id 17488335)1, 9 Ham M.F....Aozasa K. (Cancer Sci. 2007)
    6. In vitro and in vivo interactions of DNA ligase IV with a subunit of the condensin complex. (PubMed id 12589063)1, 9 Przewloka M.R....Cary R.B. (Mol. Biol. Cell 2003)
    7. The SOX2-interactome in brain cancer cells identifies the requirement of MSI2 and USP9X for the growth of brain tumor cells. (PubMed id 23667531)1 Cox J.L....Rizzino A. (PLoS ONE 2013)
    8. Characterization of the EGFR interactome reveals associated protein complex networks and intracellular receptor dynamics. (PubMed id 23956138)1 Foerster S....Ritter C.A. (Proteomics 2013)
    9. The bromodomain protein Brd4 insulates chromatin from DNA damage signalling. (PubMed id 23728299)2 Floyd S.R.... Yaffe M.B. (Nature 2013)
    10. A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (Cell 2012)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    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)
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    Entrez Gene: 10592 HGNC: 14011 AceView: SMC2L1 Ensembl:ENSG00000136824 euGenes: HUgn10592
    ECgene: SMC2 H-InvDB: SMC2

    (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)
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    NameDescription
    PharmGKB entry for SMC2 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for SMC2 gene:
    Search GeneIP for patents involving SMC2

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



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