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FLASH GENE
Symbol IQSEC2 contributors: mct/ - updated : 04-10-2017
HGNC name IQ motif and Sec7 domain 2
HGNC id 29059
Corresponding disease
MRX1 mental retardation, 1
Location Xp11.22      Physical location : 53.262.058 - 53.350.522
Synonym name
  • KIAA0522 protein
  • brefeldin A resistant Arf-guanine nucleotide exchange factor 1b
  • brefeldin A resistant Arf-guanine nucleotide exchange factor 1c
  • brefeldin A resistant Arf-guanine nucleotide exchange factor 1
  • Synonym symbol(s) KIAA0522, RP11-258C19.1, BRAG1, IQ-ARFGEF
    DNA
    TYPE functioning gene
    STRUCTURE 95.57 kb     15 Exon(s)
    text structure escaping X inactivation
    MAPPING cloned Y linked N status provisional
    regionally located between the JARID1C and SMC1L1 genes
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    15 - 6021 162.6 1488 - 2006 17045249
    14 - 5248 105 949 - 2006 17045249
    3 - 971 - 73 - 2006 17045249
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveintestinesmall intestine  highly
     salivary gland   highly
    Endocrinepancreas    
    Nervousbrain   highly
    Reproductivefemale systemovary   
     male systemprostate   
    Urinarykidney   highly
    Visualeyeretina    Mus musculus
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • an IQ-like motif lacking the G and second basic residue of the complete motif
  • one SEC7 domain, 200-AA domain responsible for catalyzing nucleotide exchange onto ARF substrates (Shoubridges 2010)
  • one PH domain
  • HOMOLOGY
    interspecies homolog to murine Iqsec2 (99.2pc)
    Homologene
    FAMILY
  • BRAG family
  • CATEGORY regulatory
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm
    basic FUNCTION
  • may be involved in th regulation of ARF protein signal transduction
  • IQSEC1, IQSEC2 control activity-dependent removal of AMPA receptors from glutamatergic synapses, a process that is required for long-term synaptic depression
  • may modulate the functions of ARF at synaptic sites
  • guanine nucleotide exchange factor for the ARF family of GTP-binding proteins
  • IQSEC1, IQSEC2, IQSEC3 have key roles in the function and organization of distinct excitatory and inhibitory synapses in the retina
  • dual role of IQSEC2 in synaptic function
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling signal transduction
    a component
  • component of the postsynaptic density of excitatory synapses
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • may play roles downstream of NMDA receptors through the interaction with multivalent PSD proteins such as BAIAP2 and DLG4
  • both ARF6 activation through GRIN2B-IQSEC2 during early development and the transition from IQSEC2- to IQSEC1-dependent ARF6 signaling induced by the GRIN2B subunit switch are critical for the development of mature glutamatergic synapses
  • IQSEC2 functions as a regulator of AMPA receptor trafficking at excitatory synapses
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) MRX1
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional germinal mutation      
    in nonsyndromic intellectual disability
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS