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Symbol CHD2 contributors: mct - updated : 07-11-2013
HGNC name chromodomain helicase DNA binding protein 2
HGNC id 1917
Corresponding disease
EEOC epileptic encephalopathy, childhood onset
Location 15q26.1      Physical location : 93.443.550 - 93.571.236
Synonym name
  • ATP-dependent helicase CHD2
  • Synonym symbol(s) EEOC
    EC.number 3.6.4.12
    DNA
    TYPE functioning gene
    STRUCTURE 128.95 kb     38 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked   status provisional
    Map cen - CHD2 - D15S157 - qter
    Authors Woodage (97)
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    39 - 9374 - 1826 - Hiller
    13 - 2248 - 501 - Hiller
    EXPRESSION
    Type ubiquitous
    constitutive of
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveliver   highly
     pharynx   highly
    Respiratoryrespiratory tractlarynx  highly
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • two chromodomains toward the N terminal
  • a central helicase
  • an ATPase related SNF2 domain and a region with similarity to the Myb-DNA binding domain
  • an helicase C-terminal domain
  • HOMOLOGY
    interspecies homolog to C.elegans h06001.2
    Homologene
    FAMILY
  • CHD family, snf2/rad54 helicase family
  • SNF2 chromatin remodelling enzyme family
  • CATEGORY regulatory , DNA associated , transcription factor
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,nucleus,chromatin/chromosome
    basic FUNCTION
  • alter gene expression possibly by modification of chromatin structure thus altering access of the transcriptional apparatus to its chromosomal DNA template
  • direct role in DNA damage signaling and genome stability maintenance
  • potential role in the maintenance of kidney function
  • is potentially involved in regulating the DNA damage responses at the chromatin level
  • CELLULAR PROCESS nucleotide, chromatin organization, remodeling
    nucleotide, transcription, regulation
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component component of a chromatin remodeling complex
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • MYOD1 determines cell fate and facilitates differentiation-dependent gene expression through CHD2-dependent deposition of H3F3A at myogenic loci prior to differentiation
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) EEOC
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional   deletion    
    in patient with scoliosis, hirsutism, learning problems, and developmental delay
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • Chd2 mutant mice are highly susceptible to spontaneous lymphoid tumor formation
  • Chd2-deficient mouse model show spinal abnormalities, renal dysfunction, growth retardation, and susceptibility to tumors, but not epileptic seizures