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FLASH GENE
Symbol FRMPD2 contributors: mct - updated : 26-11-2020
HGNC name FERM and PDZ domain containing 2
HGNC id 28572
Location 10q11.22      Physical location : 49.364.601 - 49.482.941
Synonym name
  • PDZ domain containing 5C
  • PDZ domain-containing protein 4
  • Synonym symbol(s) PDZKC5, PDZD5C, PDZK5C, MGC90186, MGC87777, MGC87776, MGC35285, PDZK4
    DNA
    TYPE functioning gene
    STRUCTURE 118.81 kb     29 Exon(s)
    MAPPING cloned Y linked N status confirmed
    Map cen - D10S225 - FRMPD2 - D10S1754 - D10S1787 - qter
    Authors UCSC (2009)
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    29 splicing 5024 144.2 1309 - 2009 19706687
    27 - 4665 - 1248 - 2009 19706687
    26 - 1889 - 320 - 2009 19706687
    EXPRESSION
    Type restricted
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Respiratoryrespiratory tracttrachea   
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period fetal
    Text brain (Nagayama 2004)
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • an N-terminal KIND domain
  • a FERM domain
  • three PDZ domains (Stenzel 2009), and second PDZ (PDZ2) domain but not the first or third PDZ domain binds to the C-terminus of GRIN2A and GRIN2B, two subunits of NMDA receptors
  • HOMOLOGY
    interspecies homolog to murine Gm626 (72.6 pc)
    Homologene
    FAMILY
    CATEGORY structural protein
    SUBCELLULAR LOCALIZATION     plasma membrane,junction,tight
        intracellular
    intracellular,cytoplasm,cytoskeleton
    text
  • localized at the basolateral membranes of polarized epithelial cells and associated with tight junction formation
  • basic FUNCTION
  • may play a role in signal transduction pathways
  • scaffold protein FRMPD2 is probably involved in synaptic NMDA receptors-mediated neural excitatory and neurotoxicity in a PDZ2 domain-dependent manner
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling signal transduction
  • FRMPD2-LRIT1-GRM6 axis regulates selective synapse formation in cone photoreceptors and is essential for normal visual function
  • a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • FRMPD2 interacts with NOD2 via leucine-rich repeats and forms a complex with the membrane-associated protein ERBIN
  • LRIT1 interacts with FRMPD2, a photoreceptor scaffold protein, and with GRM6, an ON-bipolar cell-specific glutamate receptor
  • interact with postsynaptic excitatory N-methyl-d-aspartic acid (NMDA) receptors
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --low  
    in late stage of clear cell renal cell carcinoma (ccRCC)
    constitutional     --low  
    truncation of the NOD2 leucine-rich repeat domain, associated with Crohn disease, impairs the interaction with FRMPD2, and intestinal inflammation leads to down-regulation of FRMPD2
    Susceptibility
    Variant & Polymorphism
    Candidate gene for USH1K
    Marker
    Therapy target
    ANIMAL & CELL MODELS