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FLASH GENE
Symbol MCF2 contributors: mct - updated : 03-12-2024
HGNC name MCF.2 cell line derived transforming sequence
HGNC id 6940
Corresponding disease
CBPS congenital bilateral perisylvian syndrome
Location Xq27.1      Physical location : 138.663.929 - 138.790.381
Synonym name
  • DBL protooncogene, 58kDa, diffuse B-cell lymphoma derived
  • RhoA (ARHA) GDP/GTP exchange factor (GEF)
    • Synonym symbol(s) DBL, KIAA0424, PEM2, ARHGEF21
    DNA
    TYPE functioning gene
    STRUCTURE 126.39 kb     26 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked   status confirmed
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    28 - 3765 - 985 - 2012 22984590
    29 - 3813 - 1001 - 2012 22984590
    25 - 3524 - 821 - 2012 22984590
    26 - 3641 - 860 - 2012 22984590
    25 - 3864 - 925 - 2012 22984590
    26 - 3912 - 941 - 2012 22984590
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Nervousbrain   highly
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Reproductivegerm cell
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES Hydrophilic
    STRUCTURE
    motifs/domains
  • a pleckstrin homology (PH)
  • a Dbl homology (DH) domain that is the signature of all Dbl family proteins and consists of around 200 residues
  • a SH3 domain
  • a RhoGEF domain
    • conjugated PhosphoP
    HOMOLOGY
    interspecies homolog to yeast Cdc24
    Homologene
    FAMILY DBL family of guanine nucleotide exchange factors
    CATEGORY regulatory , protooncogene
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,cytosolic
    intracellular,cytoplasm,cytoskeleton
    basic FUNCTION
  • GDP-GTP exchange factor for CDC42HS, specifically activating CDC42 and not RAC or RHOA
  • stimulate the activation of small GTP-binding proteins from the RHO family
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling signal transduction
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • MZF2 binds to the N-terminal region of ezrin, a member of the ERM (ezrin, radixin, moesin) proteins known to function as linkers between the plasma membrane and the actin cytoskeleton
    • cell & other
    REGULATION
    Other is regulated by hamartin through association with ezrin
    ASSOCIATED DISORDERS
    corresponding disease(s) CBPS
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
  • FGA, PSMC1 and MCF2 represent putative serological biomarkers for patients with multiple myeloma (MM)
    • Therapy target
    ANIMAL & CELL MODELS
  • mouse Mcf2 gene controls the embryonic migration of cortical projection neurons