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

SMC4 Gene

protein-coding   GIFtS: 63
GCID: GC03P160117

Structural Maintenance Of Chromosomes 4

(Previous names: SMC4 (structural maintenance of chromosomes 4, yeast)-like...)
(Previous symbol: SMC4L1)
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 41 2     XCAP-C Homolog2 3
SMC4L11 2 3     SMC4 (Structural Maintenance Of Chromosomes 4, Yeast)-Like 11
CAPC2 3 5     SMC4 Structural Maintenance Of Chromosomes 4-Like 1 (Yeast)1
Chromosome-Associated Polypeptide C2 3     CAP-C2
SMC-42 3     SMC4 Structural Maintenance Of Chromosomes 4-Like 12
hCAP-C2 3     Structural Maintenance Of Chromosomes Protein 42
SMC Protein 42 3     

External Ids:    HGNC: 140131   Entrez Gene: 100512   Ensembl: ENSG000001138107   OMIM: 6055755   UniProtKB: Q9NTJ33   

Export aliases for SMC4 gene to outside databases

Previous GC identifers: GC03P161601 GC03P157516


(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 SMC4 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 SMC4 Gene: 
SMC4 (structural maintenance of chromosomes 4) is a protein-coding gene. Diseases associated with SMC4 include pneumonia, and schizophrenia, and among its related super-pathways are Mitotic M-M/G1 phases and Cell Cycle, Mitotic. GO annotations related to this gene include protein heterodimerization activity and ATP binding.

UniProtKB/Swiss-Prot: SMC4_HUMAN, Q9NTJ3
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 SMC4 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_000003.11  NT_005612.16  NC_018914.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the SMC4 gene promoter:
         E2F-4   E2F-3a   E2F-1   E2F   HTF   E2F-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): SMC4 promoter sequence
   Search SABiosciences Chromatin IP Primers for SMC4

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SMC4


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

Entrez Gene cytogenetic band: 3q26.1   Ensembl cytogenetic band:  3q25.33   HGNC cytogenetic band: 3q26.1

SMC4 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SMC4 gene location

GeneLoc information about chromosome 3         GeneLoc Exon Structure

GeneLoc location for GC03P160117:  view genomic region     (about GC identifiers)

Start:
160,117,062 bp from pter      End:
160,152,750 bp from pter
Size:
35,689 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: SMC4_HUMAN, Q9NTJ3 (See protein sequence)
Recommended Name: Structural maintenance of chromosomes protein 4  
Size: 1288 amino acids; 147182 Da
Subunit: Forms a heterodimer with SMC2. 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
Subcellular location: 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
Secondary accessions: A6NLT9 D3DNL8 O95752 Q8NDL4 Q9UNT9
Alternative splicing: 2 isoforms:  Q9NTJ3-1   Q9NTJ3-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for SMC4: NX_Q9NTJ3

Explore proteomics data for SMC4 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9NTJ3

  • SMC4 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    SMC4 Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_001002800.1  NP_005487.3  

    ENSEMBL proteins: 
     ENSP00000418820   ENSP00000349961   ENSP00000419247   ENSP00000420644   ENSP00000417999  
     ENSP00000419360   ENSP00000417964   ENSP00000418434   ENSP00000420121   ENSP00000420734  
     ENSP00000420817   ENSP00000417612   ENSP00000341382   ENSP00000353225  
    Reactome Protein details: Q9NTJ3
    Human Recombinant Protein Products for SMC4: 
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    Novus Biologicals SMC4 Protein
    Novus Biologicals SMC4 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for SMC4 

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000796condensin complex TAS11850403
    GO:0005634nucleus TAS11850403
    GO:0005694chromosome ----
    GO:0005730NOT nucleolus IDA--
    GO:0005737cytoplasm IDA--

    SMC4 for ontologies           About GeneDecksing



    SMC4 Antibody Products: 
    EMD Millipore Mono- and Polyclonal Antibodies for the study of SMC4
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    ThermoFisher Antibodies for SMC4
    LSBio Antibodies in human, mouse, rat for SMC4 

    Assay Products for SMC4: 
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    Cloud-Clone Corp. ELISAs for SMC4 
    Cloud-Clone Corp. CLIAs for SMC4


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

    4 InterPro protein domains:
     IPR027417 P-loop_NTPase
     IPR003395 RecF/RecN/SMC
     IPR024704 SMC
     IPR010935 SMC_hinge

    Graphical View of Domain Structure for InterPro Entry Q9NTJ3

    ProtoNet protein and cluster: Q9NTJ3

    1 Blocks protein domain: IPB010935 SMCs flexible hinge

    UniProtKB/Swiss-Prot: SMC4_HUMAN, Q9NTJ3
    Domain: The hinge domain, which separates the large intramolecular coiled coil regions, allows the
    heterodimerization with SMC2, forming a V-shaped heterodimer (By similarity)
    Similarity: Belongs to the SMC family. SMC4 subfamily


    SMC4 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: SMC4_HUMAN, Q9NTJ3
    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): 4 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004888transmembrane signaling receptor activity ----
    GO:0005515protein binding IPI17113138
    GO:0005524ATP binding TAS11136719
    GO:0046982protein heterodimerization activity IPI9789013
         
    SMC4 for ontologies           About GeneDecksing


    Phenotypes:
         5 GenomeRNAi human phenotypes for SMC4:
     Cell division defect  Increased G2M DNA content  Increased cell death in breast  Increased number of mitotic ce 
     Synthetic lethal with Ras 

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for SMC4 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for SMC4

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for SMC4 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for SMC4 

    miRNA
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    6 QIAGEN miScript miRNA Assays for microRNAs that regulate SMC4:
    hsa-miR-374c hsa-miR-520d-5p hsa-miR-655 hsa-miR-526b hsa-miR-524-5p hsa-miR-219-5p
    SwitchGear 3'UTR luciferase reporter plasmidSMC4 3' UTR sequence
    Inhib. RNA
    Products:
        
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                         Customized lentivirus expression plasmids for stable overexpression of SMC4 

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SMC4


    (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 SMC4 About   (see all 8)                                                                                              See pathways by source

    SuperPathContained pathways About
    1M Phase
    M Phase0.88
    Mitotic M-M/G1 phases0.88
    2Cell Cycle
    Cell Cycle, Mitotic0.84
    Cell Cycle0.84
    3Resolution of Sister Chromatid Cohesion
    Mitotic Prometaphase0.93
    4Cell cycle Chromosome condensation in prometaphase
    Cell cycle Chromosome condensation in prometaphase1.00
    5DNA Damage
    DNA Damage0.32

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 EMD Millipore Pathway for SMC4
        Cell cycle Chromosome condensation in prometaphase


    2 Cell Signaling Technology (CST) Pathways for SMC4
        Chromatin Regulation / Acetylation
    DNA Damage

    1 GeneGo (Thomson Reuters) Pathway for SMC4
        Cell cycle Chromosome condensation in prometaphase

    1 BioSystems Pathway for SMC4
        Aurora B signaling

    5/6        Reactome Pathways for SMC4 (see all 6)
        Mitotic Prometaphase
    Cell Cycle
    Condensation of Prometaphase Chromosomes
    M Phase
    Mitotic M-M/G1 phases



    SMC4 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for SMC4

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

    5/836 Interacting proteins for SMC4 (Q9NTJ32, 3 ENSP000003413824) via UniProtKB, MINT, STRING, and/or I2D (see all 836)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    NCAPD2Q150212, 3, ENSP000003250174MINT-7945693 MINT-7947479 I2D: score=7 STRING: ENSP00000325017
    SMC3Q9UQE72, 3, ENSP000003547204MINT-7945693 MINT-7947479 I2D: score=4 STRING: ENSP00000354720
    HDAC1Q135472, 3, ENSP000003626494MINT-7945693 MINT-7947479 I2D: score=1 STRING: ENSP00000362649
    POLR1CO151602, 3MINT-7945693 MINT-7947479 I2D: score=3 
    EIF2S3P410912, 3MINT-7945693 MINT-7947479 I2D: score=1 
    About this table

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000070mitotic sister chromatid segregation TAS11321372
    GO:0000278mitotic cell cycle TAS--
    GO:0006281DNA repair IEA--
    GO:0006310DNA recombination IEA--
    GO:0006935chemotaxis ----

    SMC4 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
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for SMC4

    Search CenterWatch for drugs/clinical trials and news about SMC4

    (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 SMC4 gene (3 alternative transcripts): 
    NM_001002799.1  NM_001002800.1  NM_005496.3  

    Unigene Cluster for SMC4:

    Structural maintenance of chromosomes 4
    Hs.58992  [show with all ESTs]
    Unigene Representative Sequence: NM_005496
    18/28 Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 28):
    ENST00000497311 ENST00000357388(uc003fdh.3 uc003fdi.3) ENST00000465903
    ENST00000485645 ENST00000472991 ENST00000472282 ENST00000467468 ENST00000468653(uc003fdf.1)
    ENST00000469762 ENST00000469858 ENST00000489573(uc003fdg.1) ENST00000462787
    ENST00000490207 ENST00000485867 ENST00000344722(uc003fdj.3 uc010hwd.3)
    ENST00000470240 ENST00000497984 ENST00000487747
    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

    miRNA
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    6 QIAGEN miScript miRNA Assays for microRNAs that regulate SMC4:
    hsa-miR-374c hsa-miR-520d-5p hsa-miR-655 hsa-miR-526b hsa-miR-524-5p hsa-miR-219-5p
    SwitchGear 3'UTR luciferase reporter plasmidSMC4 3' UTR sequence
    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
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    GenScript: all cDNA clones in your preferred vector (see all 2): SMC4 (NM_153001)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for SMC4
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SMC4
    Sirion Biotech Customized lentivirus for stable overexpression of SMC4 
                         Customized lentivirus expression plasmids for stable overexpression of SMC4 
    Primer
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      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat SMC4

    Additional mRNA sequence: 

    AB019987.1 AF092564.1 AK002200.1 AK026361.1 AK122939.1 AK128143.1 AK225437.1 AK307508.1 
    AK315070.1 AL136877.1 AL833949.1 BC001557.1 BC065259.1 BC070161.1 BC106033.1 

    24/34 DOTS entries (see all 34):

    DT.99955215  DT.100828674  DT.414134  DT.100828681  DT.102836850  DT.120858692  DT.95140820  DT.91769223 
    DT.91769218  DT.120858646  DT.70101144  DT.91895203  DT.100828669  DT.120858612  DT.95140864  DT.100828672 
    DT.95140873  DT.95282587  DT.97848386  DT.113472  DT.120858472  DT.120858504  DT.120858541  DT.120858560 

    24/412 AceView cDNA sequences (see all 412):

    AI561163 BU508914 CR600091 CB122418 AA928296 BQ230760 BG575547 BM806907 
    BQ575962 AK128143 AA283006 AA506497 BM782323 BF244486 BG682051 CB127133 
    AI871559 AW504211 AU139490 AI951071 AI625170 BU193679 BF115592 BX348472 

    GeneLoc Exon Structure

    5/21 Alternative Splicing Database (ASD) splice patterns (SP) for SMC4 (see all 21)    About this scheme

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

    ExUns: 12a · 12b · 12c ^ 13a · 13b ^ 14 ^ 15 ^ 16 ^ 17a · 17b ^ 18a · 18b ^ 19a · 19b ^ 20 ^ 21 ^ 22a · 22b ^ 23 ^ 24 ^ 25 ^ 26 ^ 27a · 27b ^ 28 ^ 29
    SP1:                                                  -                                                                 -                                       
    SP2:  -                                                                                                                                                         
    SP3:  -                                                                                                                                                         
    SP4:  -                                                                                                                                                         
    SP5:                                                  -                                                                                                         


    ECgene alternative splicing isoforms for SMC4

    (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

    SMC4 expression in normal human tissues (normalized intensities)      SMC4 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GACTTTTAAA
    SMC4 Expression
    About this image


    SMC4 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/21 selected tissues (see all 21) fully expand
     
     Brain (Nervous System)    fully expand to see all 7 entries
             Cerebral Cortex
             brain/midbrain   
     
     Bone (Muscoskeletal System)    fully expand to see all 3 entries
             Membranous Facial Bones
             sensory organ/ear/inner ear   
     
     Heart (Cardiovascular System)    fully expand to see all 3 entries
             heart/ventricle   
     
     Neural Tube (Nervous System)    fully expand to see all 3 entries
             Metencephalon
     
     Nose (Sensory Organs)    fully expand to see all 2 entries
             sensory organ/nose/nasal cavity   

    See SMC4 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for SMC4

    SOURCE GeneReport for Unigene cluster: Hs.58992

    UniProtKB/Swiss-Prot: SMC4_HUMAN, Q9NTJ3
    Tissue specificity: Widely expressed. Higher expression in testis, colon, thymus

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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)
    About This Section

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for SMC4 gene from 10/29 species (see all 29)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Smc41 , 5 structural maintenance of chromosomes 41, 5 87.64(n)1
    89.66(a)1
      3 (32.14 cM)5
    700991  NM_133786.31  NP_598547.11 
     690047385 
    chicken
    (Gallus gallus)
    Aves SMC41 structural maintenance of chromosomes 4 75.62(n)
    76.97(a)
      395189  NM_204518.1  NP_989849.1 
    lizard
    (Anolis carolinensis)
    Reptilia SMC46
    Structural maintenance of chromosomes protein
    75(a)
    1 ↔ 1
    3(12995253-13043223)
    African clawed frog
    (Xenopus laevis)
    Amphibia XCAP-C2 (XCAP-C) 75.81(n)    U13673.1 
    zebrafish
    (Danio rerio)
    Actinopterygii smc4l12 MC4 structural maintenance of chromosomes 4-like 1 more 69.52(n)   192332  AY099521.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta glu1 gluon 46.76(n)
    39.8(a)
      35001  NM_165180.1  NP_723996.1 
    worm
    (Caenorhabditis elegans)
    Secernentea smc-46
    dpy-276
    Chromosome condensation protein dpy-27
    26(a)
    26(a)
    many → 1
    many → 1
    III(4587506-4593123)
    III(3813553-3819679)
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes SMC4(YLR086W)4
    SMC41
    Subunit of the condensin complex; reorganizes chromosomes more4
    Smc4p1
    49.79(n)1
    39.12(a)1
      12(302243-306499)4
    8507751, 4  NP_013187.11, 4 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons SMC31 structural maintenance of chromosomes protein 4 51.44(n)
    43.51(a)
      834917  NM_001203563.1  NP_001190492.1 
    rice
    (Oryza sativa)
    Liliopsida Os.198622 Oryza sativa mRNA for SMC4 protein 74.45(n)    AJ488495.1 


    ENSEMBL Gene Tree for SMC4 (if available)
    TreeFam Gene Tree for SMC4 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for SMC4 gene
    1 SIMAP similar gene for SMC4 using alignment to 13 protein entries:     SMC4_HUMAN (see all proteins):
    SMC1A

    SMC4 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for SMC4
    PGOHUM00000240962


    (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

    10/721 SNPs in SMC4 are shown (see all 721)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 3 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0524394
    ----see VAR_0524392 S R mis40--------
    rs609074641,2
    C--157525660(+) AAAAA-/A/AAA 
            
    GACTG
    2 -- int12NA 4
    rs749544721,2
    C,F--160119346(+) TAGGAT/ATTAAC 2 -- int11Minor allele frequency- A:0.05WA 118
    rs1860776771,2
    --160119452(+) ATAGAA/GTTTTG 2 -- int10--------
    rs1897336521,2
    C--160119520(+) AGTCAA/CCCCCG 2 -- int10--------
    rs412729471,2
    C,F--160119525(+) CCCCCA/GTGAGT 2 -- int112Minor allele frequency- G:0.47NA WA CSA EA 376
    rs589150281,2
    C,F--160119568(+) AGACTC/TCTAAG 2 -- int15Minor allele frequency- T:0.06NA WA EA 246
    rs586540321,2
    C,F--160119631(+) TTCTCC/GGAACT 2 -- int15Minor allele frequency- G:0.06NA WA EA 246
    rs766950241,2
    C,F--160119660(+) TTTTCC/TCCCGC 2 -- int11Minor allele frequency- T:0.03WA 118
    rs1813340501,2
    C--160119699(+) CTGACA/TTAGAG 2 -- int10--------

    HapMap Linkage Disequilibrium report for SMC4 (160117062 - 160152750 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for SMC4:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv822305CNV Gain20364138


    Human Gene Mutation Database (HGMD): SMC4
    SABiosciences Cancer Mutation PCR Assays
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    (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.)
    About This Section
    OMIM gene information: 605575    OMIM disorders: --

    3 diseases for SMC4:    About MalaCards
    pneumonia    schizophrenia    tuberculosis


    SMC4 for disorders           About GeneDecksing

    Genetic Association Database (GAD): SMC4
    Human Genome Epidemiology (HuGE) Navigator: SMC4 (1 document)

    Export disorders for SMC4 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 SMC4 gene, integrated from 9 sources (see all 60):
    (articles sorted by number of sources associating them with SMC4)
        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, 9 Schmiesing J.A....Yokomori K. (1998)
    2. Isolation and characterization of a human cDNA homologous to the Xenopus laevis XCAP-C gene belonging to the structural maintenance of chromosomes (SMC) family. (PubMed id 10319587)1, 2, 3 Nishiwaki T....Nakamura Y. (1999)
    3. 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. (2000)
    4. Investigation of genetic susceptibility factors for h uman longevity - A targeted nonsynonymous SNP study. (PubMed id 20800603)1, 4 Flachsbart F....Nebel A. (2010)
    5. Towards a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs. (PubMed id 11230166)1, 2 Wiemann S.... Poustka A. (2001)
    6. Chromosome condensation by a human condensin complex in Xenopus egg extracts. (PubMed id 11136719)1, 2 Kimura K....Hirano T. (2001)
    7. Condensin mutations and abnormal chromosomal structures in pyothorax-associated lymphoma. (PubMed id 17488335)1, 9 Ham M.F....Aozasa K. (2007)
    8. A Proteomics Strategy for the Identification of FAT10- Modified Sites by Mass Spectrometry. (PubMed id 23862649)1 Leng L....Wang J. (2013)
    9. The functional interactome landscape of the human hist one deacetylase family. (PubMed id 23752268)1 Joshi P....Cristea I.M. (2013)
    10. A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (2012)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    About This Section
    Entrez Gene: 10051 HGNC: 14013 AceView: SMC4L1 Ensembl:ENSG00000113810 euGenes: HUgn10051
    ECgene: SMC4 H-InvDB: SMC4

    (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 SMC4 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 SMC4 gene:
    Search GeneIP for patents involving SMC4

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



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