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FLASH GENE
Symbol FRMD7 contributors: mct/shn - updated : 30-11-2017
HGNC name FERM domain containing 7
HGNC id 8079
Corresponding disease
NYS1A nystagmus 1A, congenital
Location Xq26.2      Physical location : 131.211.022 - 131.262.050
Synonym name
  • nystagmus 1, congenital
  • Synonym symbol(s) RP6-213H19.2, FLJ43346, NYS, NYS1
    DNA
    TYPE functioning gene
    STRUCTURE 51.04 kb     12 Exon(s)
    MAPPING cloned Y linked N status provisional
    Map cen - DXS8068 - DXS8072 - FRMD7 - DXS8071 - DXS8041 - qter
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    12 - 3227 - 714 mainly in the brainstem, limited level in the cortex 2011 21386928
    12 - 3166 - 699 - 2011 21386928
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveliver   highly
    Endocrinepancreas   highly
    Nervousbrain     Homo sapiens
    Urinarykidney   highly
    Visualeyeretina    Homo sapiens
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Visualamacrine cell Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period embryo
    Text brain, spinal cord and eye
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    HOMOLOGY
    interspecies ortholog to Frmd7, Mus musculus
    ortholog to Frmd7, Rattus norvegicus
    ortholog to FRMD7, Pan troglodytes
    intraspecies homolog to FARP1, FARP2
    Homologene
    FAMILY FERM family of proteins
    CATEGORY regulatory , storage
    SUBCELLULAR LOCALIZATION extracellular
        intracellular
    intracellular,cytoplasm,cytoskeleton
    text
  • subcellular localization is restricted primarily to the cell body of the neuronal cell and to the area of the primary dendrite extensions and distal tip of the growth cone in dendrites
  • basic FUNCTION
  • may be involved in neuronal parhway governing integration and coordination of eye movements
  • may be involved in synapse formation/function, and in axon growth/guidance
  • involved in multiple aspects of neuronal development, and have direct importance to further understanding the pathogenesis of idiopathic infantile nystagmus
  • plays an important role in the regulation of neurite outgrowth
  • may play an important role in the brainstem in the early stages of development of the human fetal brain and may be involved in influencing F-actin dynamics (
  • is a key regulator in establishing a neuronal circuit asymmetry, suggesting the involvement of a specific inhibitory neuron type in the pathophysiology of a neurological disease
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • CASK, is a FRMD7 interactor (CASK promotes FRMD7 co-localization at the plasma membrane, where it enhances CASK-induced neurite length)
  • neuronal CASK/P2RX3 interaction was up-regulate
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) NYS1A
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS