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FLASH GENE
Symbol FAT2 contributors: mct - updated : 11-04-2022
HGNC name FAT tumor suppressor homolog 2 (Drosophila)
HGNC id 3596
Corresponding disease
SCA45 spinocerebellar ataxia 45
Location 5q33.1      Physical location : 150.883.653 - 150.948.505
Synonym name
  • multiple epidermal growth factor-like motif 1
  • protocadherin FAT2
  • cadherin family member 8
  • Synonym symbol(s) MEGF1, CDHF8, HFAT2, KIAA0811, CDHR9, SCA45
    DNA
    TYPE functioning gene
    STRUCTURE 90.73 kb     24 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status confirmed
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    24 - 14710 479.2 4349 - 2020 33108146
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestivemouth   highly
     stomach   highly Homo sapiens
    Endocrineneuroendocrinepituitary  moderately
     parathyroid   predominantly
    Nervousbrain    
    Reproductivefemale systemovary  moderately
    Respiratoryrespiratory tractlarynx  moderately
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Epithelialabsorptive excretorydigestive epithelium (mucosa) highly Homo sapiens
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Digestivegastric Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a 18 aa signal peptide
  • thirty two cadherin motifs
  • a laminin G-like domain
  • two EGF-like motifs
  • conjugated GlycoP
    HOMOLOGY
    interspecies homolog to rattus Fat2 (81.8 pc)
    homolog to murine Fat2 (82 pc)
    Homologene
    FAMILY
  • cadherin superfamily
  • CATEGORY adhesion
    SUBCELLULAR LOCALIZATION     plasma membrane,junction,adherens
        intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,Golgi
    text
  • single-pass type I membrane protein
  • localized at immature adherens junctions
  • basic FUNCTION
  • controlling cell proliferation
  • playing an important role in cerebellum development
  • acts through the WAVE regulatory complex to drive collective cell migration during tissue rotation
  • may function as a key molecule that governs not only planar cell polarity (PCP), but also NF2-HIPPO signaling in arachnoid cells
  • FAT2 and the receptor tyrosine phosphatase PTPRF function in a planar signaling system that coordinates leading and trailing edge dynamics between neighboring cells
  • CELLULAR PROCESS cell life, proliferation/growth
    PHYSIOLOGICAL PROCESS development
    text
  • cerebellum development
  • PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule metal binding,
  • Ca2+
  • protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) SCA45
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --over  
    significantly associated with lymph node and distant metastases, and poor prognosis
    Susceptibility
    Variant & Polymorphism
    Candidate gene
  • FAT2 and DCHS2 are candidates underlying pituitary gland developmental defects such as ectopic pituitary gland and/or pituitary stalk interruption
  • Marker
    Therapy target
    ANIMAL & CELL MODELS