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FLASH GENE
Symbol FRMD3 contributors: mct/npt - updated : 15-05-2019
HGNC name FERM domain containing 3
HGNC id 24125
Location 9q21.32      Physical location : 85.862.306 - 86.153.348
Synonym name
  • nonerythroid protein 4.1, ovary type
  • protein 4.1O
  • band 4.1-like protein 4O
  • band 4.1-like protein 4
  • band 4.1-like protein 4
    Synonym symbol(s) 4.1O, P410, EPB41L4O, MGC20553, FERMD3
    DNA
    TYPE functioning gene
    STRUCTURE 291.05 kb     14 Exon(s)
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    14 - 2529 - 597 - Haase (2007)
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Nervousbrain   highly
    Respiratorylung   highly
    Urinarykidney   highly Homo sapiens
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Blood/Hematopoieticerythroid
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • one FERM domain
  • HOMOLOGY
    Homologene
    FAMILY
  • protein 4.1 superfamily
  • CATEGORY structural protein
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,organelle
    intracellular,cytoplasm,cytoskeleton
    basic FUNCTION
  • critical growth regulator in the pathogenesis of meningiomas
  • playing a key role in erythrocytes in regulating the physical properties of mechanical stability and deformability in membranes by stabilizing the spectrin-actin interaction
  • putative tumour suppressor gene suggesting an important role in the origin and progression of lung cancer (Haase 2007)
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral        
    in primary non-small cell lung carcinoma (Haase 2007)
    Susceptibility
  • susceptibility to diabetic nephropathy in type 1 diabetes
  • Variant & Polymorphism other
  • strong association was identified at the FRMD3 locus with susceptibility to diabetic nephropathy in type 1 diabetes
  • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS