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FLASH GENE
Symbol ARHGEF4 contributors: mct - updated : 04-06-2012
HGNC name Rho guanine nucleotide exchange factor (GEF) 4
HGNC id 684
Location 2q22      Physical location : 131.674.223 - 131.804.836
Synonym name APC stimulated guanine nucleotide exchange factor
Synonym symbol(s) KIAA1112, ASEF, STM6, GEF4
DNA
TYPE functioning gene
STRUCTURE 130.00 kb     13 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked N status provisional
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
- - 3660 81.8 720 - Thiesen, Kuraguchi
- - 4258 - 670 - Thiesen, Kuraguchi
EXPRESSION
Type restricted
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Nervousbraindiencephalonhypothalamus   Homo sapiens
 brainhindbraincerebellum   Homo sapiens
 nervecranial nerve  highly
Olfactoryolfactory bulb    
Visualeye   highly
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Nervouscentral   
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • a rhoGEF/Dbl homology domain
  • a pleckstrin homology (PH) domain followed by an APC binding region (ABR)
  • Src homology 3 (SH3) domain
  • HOMOLOGY
    Homologene
    FAMILY
    CATEGORY adaptor , regulatory , signaling
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytoskeleton
    basic FUNCTION
  • potential regulator of the actin cytoskeletal network, cell morphology and migration and neuronal function
  • may be involved in the regulation of cell adhesion
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling signal transduction
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein interacting with APC (through APC-binding region, ABR); interaction activating the GEF activity and thereby promoting reorganization of the actin cytoskeletal network and affecting cell morphology and migration
    cell & other
    REGULATION
    induced by APC that stimulates the GEF activity of ARHGEF4 and SPATA13 and thereby regulates cell adhesion and migration
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional   deletion    
    with GPR148 in developmental delay (DD)/intellectual disability (ID),attention-deficit hyperactivity disorder
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS