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FLASH GENE
Symbol SMC2 contributors: mct - updated : 27-06-2018
HGNC name structural maintenance of chromosomes 2
HGNC id 14011
Location 9q31.1      Physical location : 106.856.540 - 106.903.693
Synonym name
  • chromosome associated polypeptide-E
  • SMC2 structural maintenance of chromosomes 2-like 1 (yeast)
  • structural maintenance of chromosomes 2-like 1
  • condensin II
  • Synonym symbol(s) CAPE, HCAP-E, CAP-E, FLJ10093, SMC2L1, hCAP-E, SMC-2L1
    DNA
    TYPE functioning gene
    STRUCTURE 47.16 kb     23 Exon(s)
    regulatory sequence Promoter
    Binding site
    text structure
  • transcriptional regulation of SMC2 protein by direct binding of the CTNNB1·TCF4 transcription factor to the SMC2 promoter
  • MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    22 - 6054 - 1197 - 1998 9789013
    22 - 5992 - 1197 - 1998 9789013
    23 - 5983 - 1197 - 1998 9789013
    25 - 6008 - 1197 - 1998 9789013
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart    
    Nervousbrain    
    Reproductivemale systemprostate   
    Respiratorylung    
    Urinarykidney    
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Blood / Hematopoieticbone marrow   
    Connectivebone   
    Muscularstriatumskeletal  
    cell lineage
    cell lines a variety of cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • N-terminal NTP-binding site
  • a hinge domain with short coiled coils
  • a C-terminal helix-loop-helix (HLH) domain
  • mono polymer heteromer , dimer
    HOMOLOGY
    interspecies homolog to C.elegans mix-1
    homolog to Drosophila smc2
    ortholog to xenopus xcap-e
    Homologene
    FAMILY structural maintenance of chromosomes (SMC) family
    CATEGORY DNA associated
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytosolic
    intracellular,nucleus,nucleoplasm,nuclear bodies,nuclear speckles
    intracellular,nucleus,chromatin/chromosome
    intracellular,nucleus,nucleolus
    text nuclear speckles at interphase
    basic FUNCTION
  • invoved in mitotic chromosome segregation
  • condensin gene (SMC2, SMC4) alteration might play a role in genome instability, which accelerates the accumulation of other gene alterations in pyothorax-associated lymphoma
  • unique role for condensin complexes in interphase chromatin compaction in embryonic stem cells
  • SMC2 (CAP-E) and SMC4 (CAP-C), plays a critical role in the formation of higher order chromosome structures during mitosis
  • SMC2 also transcriptionally regulates DNA damage response genes in cooperation with MYCN
  • novel functions of SMC2 in DNA damage response
  • SMC2, SMC4 plays a central role in organizing and compacting chromosomes, which determines DNA-binding activity and gene expression
  • CELLULAR PROCESS nucleotide, chromatin organization, remodeling
    nucleotide, replication
    nucleotide, repair
    PHYSIOLOGICAL PROCESS
    text
  • mitotic chromosome condensation
  • PATHWAY
    metabolism
    signaling
    a component
  • heterodimer with SMC4, component of the 13S condensin complex, ortholog to the Xenopus (XCAP)-C/(XCAP)-E complex
  • component of the condensin complex, which contains the
  • SMC2 and SMC4 heterodimer
  • recruitment of condensin onto chromosomes requires cis elements and recruiters that physically interact with condensin
  • SMC2 and SMC4 subunits dimerize through the interaction of their hinge domains, forming a characteristic V-shaped heterodimer
  • is part of the condensin complex, which is responsible for tightly packaging replicated genomic DNA prior to segregation into daughter cells
  • INTERACTION
    DNA
  • binding
  • centromeric DNA has high affinity for SMC2-4 subunits of condensins and for CENPA, it is enriched for DNA repair factors and suppresses the ATR checkpoint to ensure its efficient replication
  • RNA
    small molecule nucleotide,
    ATP/GTP binding
    protein
  • both KIF4A and TOP2A depend on SMC2 for their localization on the chromatid axis and that SMC2 exhibits a reciprocal dependency on KIF4A for localization on the chromatid axes
  • condensin complex subunit SMC2 is transcriptionally regulated by MYCN
  • interaction with SYNE2 through a SMC domain (AA 1436-1766)that can interact with itself, and has the capacity to bind to SMC2 and SMC4, the core subunits of condensin
  • CDK phosphorylation-licensed chromosomal localization of KIF4A plays a critical role in regulating early mitotic functions of KIF4A that are important for early mitotic progression
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    cancerbrainglioma/neuroblstoma
    is a novel molecular target for the treatment of MYCN-amplified neuroblastoma
    cancer  
    represents a new target for oncological therapeutic intervention
    ANIMAL & CELL MODELS