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FLASH GENE
Symbol FRMD7 contributors: mct/shn - updated : 30-11-2017
HGNC name FERM domain containing 7
HGNC id 8079
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