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FLASH GENE
Symbol CHN1 contributors: mct - updated : 15-11-2016
HGNC name chimerin (chimaerin) 1
HGNC id 1943
Corresponding disease
DEL2Q31 chromosome 2q interstitial deletion, including 2q31.1
DURS2 Duane retraction syndrome 2
Location 2q31.1      Physical location : 175.664.041 - 175.870.170
Synonym name
  • GTPase-activating protein, rho, 2
  • alpha 2 chimaerin
  • A-chimerin
  • N-chimerin
    • Synonym symbol(s) RHOGAP2, CHN, ARHGAP2, n-chimerin
    DNA
    TYPE functioning gene
    STRUCTURE 206.07 kb     13 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    regulatory sequence Binding site
    MAPPING cloned Y linked N status confirmed
    RNA
    TRANSCRIPTS type messenger
    text alpha1-chimaerin promoter lies in intronic sequence upstream of alpha2-chimaerin exon 7
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    13 - 2712 - 459 - 2008 18653847
    identical C1 and RacGAP domains as alpha 2
    13 - 2446 - 433 - 2008 18653847
    7 - 2294 - 334 - 2008 18653847
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestivepharynx   highly
    Endocrineneuroendocrinepituitary  highly
    Nervousbrainhindbraincerebellum highly
    Urinarykidney   highly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Nervousperipherous   
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a N terminal SH2 domain
  • a C terminal GAP domain and the phospho ester-binding region
  • one zinc dependent phorbol-ester and DAG binding domain
    • HOMOLOGY
    interspecies homolog to c47d12.4
    Homologene
    FAMILY
    CATEGORY signaling neurotransmitter
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytosolic
    basic FUNCTION
  • GTPase-activating proteins that inactivate the GTP-hydrolase Rac1 in a diacylglycerol-dependent manner
  • brain GTPase activating protein for the ras-related p21rac
  • having a regulatory function in actin repolymerization
  • has a critical developmental function in ocular motor axon pathfinding
  • is implicated in axon guidance events downstream of ephrin receptor signaling
  • is a key regulator of cortical neuronal migration and function
  • may act as an intermediate to balance and interpret positive and negative guidance cues in the ocular motor system
  • is potentially a unique integrator of guidance cues in motor neuron pathfinding
  • a correct level of CHN1 signaling is required for key oculomotor axon guidance decisions
  • acts during development to establish normal cognitive ability in adulthood
  • is required for Eph receptor-class-specific spinal motor axon guidance and coordinate activation of antagonistic muscles
  • CHN1 signaling in developmental stages contributes to determination of the morphological features of adult spines and establishment of normal cognitive ability
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interacting with CDK5
  • CHN1 regulates bipolar transition and neuronal migration through modulating the activity of DPYSL2, a microtubule-associated protein
  • is critical in the pathfinding of oculomotor neurons as a downstream component of the SEMA3A/PLXNA repellent signaling pathway
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) DURS2 , DEL2Q31
    Susceptibility
    Variant & Polymorphism
    Candidate gene for the downmodulation of Rac1 in T-lymphocytes
    Marker
    Therapy target
    ANIMAL & CELL MODELS