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FLASH GENE
Symbol ARHGAP4 contributors: mct - updated : 17-02-2010
HGNC name Rho GTPase activating protein 4
HGNC id 674
Location Xq28      Physical location : 153.172.829 - 153.191.714
Synonym name
  • DNA segment,single copy,probes p2-55,C1,12B2
  • Rho-GAP hematopoietic protein C1
    • Synonym symbol(s) DXS707, KIAA0131, RGC1, RHOGAP4, P115, RHG4, C1, SrGAP4
    DNA
    TYPE functioning gene
    STRUCTURE 18.87 kb     22 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status confirmed
    Physical map
    ATP2B3 Xq28 ATPase, Ca++ transporting, plasma membrane 3 MGC29729 Xq28 hypothetical protein MGC29729 LOC340598 Xq28 similar to Keratin, type I cytoskeletal 18 (Cytokeratin 18) (K18) (CK 18) DUSP9 Xq28 dual specificity phosphatase 9 LOC347544 Xq28 similar to ribosomal protein L18a; 60S ribosomal protein L18a MGC45419 Xq28 Similar to calcium/calmodulin-dependent protein kinase 1, beta SLC6A8 Xq28 solute carrier family 6 (neurotransmitter transporter, creatine), member 8 BCAP31 Xq28 solute carrier family 6 (neurotransmitter transporter, creatine), member 8 ABCD1 Xq28 ATP-binding cassette, sub-family D (ALD), member 1 PLXNB3 Xq28 plexin B3 STK23 Xq28 serine/threonine kinase 23 IDH3G Xq28 isocitrate dehydrogenase 3 (NAD+) gamma SSR4 Xq28 signal sequence receptor, delta (translocon-associated protein delta) KIAA1444 Xq28 LU1 protein HCP45 Xq28 cytochrome c, somatic pseudogene L1CAM Xq28 L1 cell adhesion molecule (hydrocephalus, stenosis of aqueduct of Sylvius 1, MASA (mental retardation, aphasia, shuffling gait and adducted thumbs) syndrome, spastic paraplegia 1) AVPR2 Xq28 arginine vasopressin receptor 2 (nephrogenic diabetes insipidus) ARHGAP4 Xq28 Rho GTPase activating protein 4 ARD1 Xq28 ARD1 homolog, N-acetyltransferase (S. cerevisiae) RENBP Xq28 renin binding protein HCFC1 Xq28 host cell factor C1 (VP16-accessory protein) CXorf12 Xq28 chromosome X open reading frame 12 IRAK1 Xq28 interleukin-1 receptor-associated kinase 1 MECP2 Xq28 methyl CpG binding protein 2 (Rett syndrome) OPN1LW Xq28 opsin 1 (cone pigments), long-wave-sensitive (color blindness, protan) OPN1MW Xq28 opsin 1 (cone pigments), medium-wave-sensitive (color blindness, deutan)
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    22 - 3285 - 946 - -
    - - 3405 - 986 - -
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    blood / hematopoieticspleen    
     thymus    
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Blood / hematopoieticplasma  highly
    Lymphoid    
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Blood/Hematopoieticleukocyte
    cell lineage hematopoietic cells
    cell lines
    fluid/secretion
    at STAGE
    physiological period fetal, pregnancy
    Text placenta, lung
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a N terminal Fes/CIP homology (FCH), important for spatially localizing ARHGAP4 to axon growth cones
  • a central RHO-GAP (GAP domain and C-terminus are necessary for ARHGAP4-mediated inhibition of cell and axon motility)
  • a FBH domain
  • a C terminal SH3 domains
    • HOMOLOGY
    interspecies homolog to C.elegans F12F6.5
    Homologene
    FAMILY
  • FNBP2 protein family
  • RhoGAP family
    • CATEGORY adaptor , regulatory , signaling
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytosolic
    intracellular,nucleus
    basic FUNCTION
  • inhibitory effect on stress fiber organization, may be down regulating Rho-like GTPase in hematopoietic cells
  • can act as a potent inhibitor of cell and axon motility when it is localized to the leading edge of motile cells and axons
  • may play some role in lymphocyte differentiation but partial loss of ARHGAP4 does not result in clinical immunodeficiency
    • CELLULAR PROCESS cell organization/biogenesis
    PHYSIOLOGICAL PROCESS
    text cytoskeletal regulation
    PATHWAY
    metabolism
    signaling signal transduction
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional   deletion    
    contiguous gene syndrome of severe combined immunodeficiency and nephrogenic diabetes insipidus in Xq28 deletion encompassing AVPR2 and ARD1A
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    bloodhemoglobin 
    may represent potential tools for the identification of new targets for sickle cell anaemia therapy
    ANIMAL & CELL MODELS