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FLASH GENE
Symbol NCAPD2 contributors: mct - updated : 25-06-2019
HGNC name non-SMC condensin I complex, subunit D2
HGNC id 24305
Corresponding disease
MCPH21 microcephaly 21, primary, autosomal recessive
Location 12p13.31      Physical location : 6.603.297 - 6.641.132
Synonym name
  • chromosome condensation-related SMC-associated protein 1
  • Synonym symbol(s) KIAA0159, CAP-D2, CNAP1, hCAP-D2, MCPH21
    DNA
    TYPE functioning gene
    STRUCTURE 37.85 kb     32 Exon(s)
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    32 - 4825 - 1401 - 2016 27737959
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveesophagus   highly
    Lymphoid/Immunelymph node    
     thymus   highly
    Reproductivefemale systemovary  highly
     male systemtestis   
    Urinarybladder    
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period embryo
    Text stem cells
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • two separate domains required for its stable incorporation into the complex
  • a functional bipartite nuclear localization signal
  • a histone-binding domain that is responsible for targeting NCAPD2, and possibly condensin, to mitotic chromosomes
  • a C-terminus mitotic chromosome-targeting domain that does not require the other condensin components, and defines a novel histone-binding domain that is responsible for targeting CNAP1, and possibly condensin, to mitotic chromosomes
  • HOMOLOGY
    Homologene
    FAMILY CND1 (condensin subunit 1) family
    CATEGORY regulatory
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytosolic
    intracellular,nucleus,nucleoplasm
    basic FUNCTION
  • required for mitotic chromosome condensation
  • important protein in chromosome condensation
  • CELLULAR PROCESS nucleotide, replication
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • essential component of the condensin complex required for mitotic chromosome condensation
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • PARP1 interacting with the chromosome-targeting domain of the NCAPD2 subunit of condensin I
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) MCPH21
    Susceptibility to late-onset Parkinson disease
    Variant & Polymorphism SNP
  • T allele of rs7311174 and the C allele of rs2072374 were significantly associated with late-onset Parkinson disease
  • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • hypomorphic Ncaph2 mice have significantly reduced brain size, with frequent anaphase chromatin bridge formation observed in apical neural progenitors during neurogenesis