Selected-GenAtlas references SOURCE GeneCards NCBI Gene Swiss-Prot Orphanet Ensembl
HGNC UniGene Nucleotide OMIM UCSC
Home Page
FLASH GENE
Symbol IQSEC2 contributors: mct/ - updated : 04-10-2017
HGNC name IQ motif and Sec7 domain 2
HGNC id 29059
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