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FLASH GENE
Symbol CHD7 contributors: mct - updated : 21-09-2015
HGNC name chromodomain helicase DNA binding protein 7
HGNC id 20626
Corresponding disease
CHARGE CHARGE syndrome
DUP8Q12 chromosome 8q12 duplication, including CHD7
HHI5 hypogonadotropic hypogonadism 5 with or without anosmia
Location 8q12.2      Physical location : 61.591.338 - 61.779.463
Synonym name
  • ATP-dependent helicase CHD7
  • chromodomain helicase DNA binding protein 7 isoform CRA_e
  • Synonym symbol(s) FLJ20357, FLJ20361, KIAA1416, KAL5, CHD-7, IS3
    EC.number 3.6.4.12
    DNA
    TYPE functioning gene
    STRUCTURE 188.12 kb     38 Exon(s)
    regulatory sequence
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    38 - 10469 - 2997 - 2010 20130577
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart    
    Lymphoid/Immunelymph node   highly
    Nervousbraindiencephalonamygdala  
     brainhindbraincerebellum  
     spinal cord    
    Respiratoryrespiratory tractlarynx  highly
    Urinarykidney    
    Visualeye    
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Epithelialsensoryolfactory  
    Muscularstriatumskeletal  
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period fetal
    Text ubiquitous
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • two N-terminal chromodomains, mediating chromatin interactions and interacting with DNA, RNA, and histone targets
  • a SNF2-like ATPase/helicase domain
  • a DNA-binding domain
  • three nuclear localization signals
  • three conserved region (CR) domains
  • a switching-defective protein 3, adaptor 2, nuclear receptor corepressor, transcription factor IIIB (SANT) domain
  • two BRK (Brahma and Kismet) domains
  • at the C terminus, a leucine-zipper domain
  • HOMOLOGY
    interspecies ortholog to murine Chd7
    Homologene
    FAMILY
  • SNF2/RAD54 helicase family
  • CATEGORY DNA associated , transcription factor
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,nucleus,nucleoplasm
    intracellular,nucleus,chromatin/chromosome
    intracellular,nucleus,nucleolus
    text
  • also constitutively localized to the nucleolus, the site of rRNA transcription
  • basic FUNCTION
  • chromatin-remodeling protein, having helicase activity
  • may be playing a pivotal role in early embryonic development
  • playing a role in the functional organisation of the nucleus
  • first identified chromatin-remodeling protein with a role in puberty
  • playing an important role in GNRH1 and olfactory neuron migration to their embryologic destination in the hypothalamus
  • essential for the formation of the multipotent migratory neural crest
  • critical roles in regulating neurogenesis
  • with PBRM1, during neural crest (NC) formation synergistically regulate activity of distal genomic elements that control the expression of critical NC transcription factors, in turn allowing for transcriptional reprogramming, acquisition of multipotency and migratory potential
  • may be playing a role in enhancer mediated transcription of key target genes
  • dually functions as a regulator of both nucleoplasmic and nucleolar genes
  • having a novel function in rRNA synthesis
  • functioning at enhancers as a transcriptional rheostat to modulate, or fine-tune the expression levels of ES-specific genes
  • can modulate genes in either the positive or negative direction
  • SOX2 and CHD7 were known to be involved in neural development, and create a SOX2-CHD7-regulated network
  • SOX2 and CHD7 physically interact, have overlapping genome-wide binding sites and regulate a set of common target genes including JAG1, GLI3 and MYCN
  • plays a role in transcription regulation by chromatin remodeling
  • is a central regulator of vertebrate development, and is an ATP-dependent nucleosome remodeling factor
  • plays an important role in cardiac development
  • critical, cooperative roles for retinoic acid and CHD7 in subventricular zone (SVZ) neural stem cell function and inner ear development
  • is essential for the formation of multipotent migratory neural crest cells, which migrate from the neural tube to many regions of the embryo, where they differentiate into various tissues including craniofacial and heart structures
  • regulates genes involved in neural crest cell guidance
  • has an important, dosage-dependent role in development of several different craniofacial tissues
  • importance of CHD7 in the cardiogenic mesoderm for multiple processes during cardiovascular development (pMID: 26102480)
  • CELLULAR PROCESS nucleotide, transcription, regulation
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA binding
    RNA
    small molecule
  • ATP binding
  • protein
  • interacting with PBRM1 (PBRM1 cooperate to promote neural crest gene expression and cell migration)
  • CHD7 and CHD8 proteins are interacting directly and indirectly via additional linker proteins (loss of the direct CHD7–CHD8 interaction might change the conformation of a possible CHD7–CHD8 containing complex, which might be a disease mechanism in CHARGE syndrome)
  • binds to gene-enhancer elements and functions as a transcriptional regulator in the nucleoplasm
  • coupled with SOX2 cooperatively regulate target genes that are essential during neural stem cell development
  • effects of ASH2L in controlling open chromatin structure are manifested further by regulation of MYC and CHD7 expression
  • molecular link between CHD7 and KMT2D function likely via their known interaction with members of the WAR complex (WDR5, ASH2L, RBBP5) which has been shown to be involved in histone methylation
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) CHARGE , DUP8Q12 , HHI5
    Susceptibility to idiopathic scoliosis
    Variant & Polymorphism SNP increasing the risk of idiopathic scoliosis
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • loss of Chd7 results in cell-autonomous proliferative, neurogenic and self-renewal defects in the perinatal and mature mouse subventricular zone (SVZ) stem cell niche