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FLASH GENE
Symbol MCF2L contributors: mct - updated : 22-01-2019
HGNC name MCF.2 cell line derived transforming sequence-like
HGNC id 14576
Location 13q34      Physical location : 113.622.756 - 113.752.862
Synonym name
  • guanine nucleotide exchange factor DBS
  • DBL's big sister
  • cDNA sequence,expressed in brain, >100kDa, related to rat ost oncogene
  • Synonym symbol(s) DBS, OST, KIAA0362, ARHGEF14
    DNA
    TYPE functioning gene
    STRUCTURE 205.36 kb     27 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked   status provisional
    Physical map
    LOC387947 13 LOC387947 LOC390426 13 similar to mKIAA0324 protein SOX1 13q34 SRY (sex determining region Y)-box 1 LOC387948 13 LOC387948 LOC122258 13q34 LOC122258 TUBGCP3 13q34 tubulin, gamma complex associated protein 3 LOC387949 13 LOC387949 ATP11A 13q34 ATPase, Class VI, type 11A LOC387950 13 LOC387950 MCF2L 13q34 MCF.2 cell line derived transforming sequence-like F7 13q34 coagulation factor VII (serum prothrombin conversion accelerator) F10 13q34 coagulation factor X PROZ 13q34 protein Z, vitamin K-dependent plasma glycoprotein FLJ11305 13q34 hypothetical protein FLJ11305 CUL4A 13q34-qter cullin 4A LAMP1 13q34 lysosomal-associated membrane protein 1 GRTP1 4q14 growth hormone regulated TBC protein 1 LOC387951 13 LOC387951 ADPRHL1 13q34 ADP-ribosylhydrolase like 1 C13orf17 13q34 chromosome 13 open reading frame 17 C13orf11 13q34 chromosome 13 open reading frame 11 TFDP1 13q34 transcription factor Dp-1 ATP4B 13q34 ATPase, H+/K+ exchanging, beta polypeptide RHOK 13q34 rhodopsin kinase LOC387952 13 hypothetical gene supported by AK126042; BC034570 GAS6 13q34 growth arrest-specific 6 MGC20579 13q34 hypothetical protein MGC20579 RASA3 13q34 RAS p21 protein activator 3 LOC390427 13 LOC390427 CDC16 13q34 CDC16 cell division cycle 16 homolog (S. cerevisiae) UPF3A 13q34 UPF3 regulator of nonsense transcripts homolog A (yeast) C13orf8 13q34 chromosome 13 open reading frame 8
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    30 - 6424 - 1125 - 2014 25483302
    30 - 6633 - 1129 - 2014 25483302
    30 - 6456 - 1123 - 2014 25483302
    31 - 6531 - 1148 - 2014 25483302
    27 - 3466 - 984 - 2014 25483302
    30 - 6820 - 1096 - 2014 25483302
    29 - 6298 - 1112 - 2014 25483302
    28 - 6223 - 1087 - 2014 25483302
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveintestinelarge intestinecolon highly
     pancreas exocrine   moderately
    Nervousbrain   predominantly
    Reproductivefemale systembreastmammary gland moderately
    Respiratorylung   moderately
    Visualeye   highly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Connectiveadipose  highly
    Connectivebone  moderately
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • N-terminal Sec14 domain
  • a CRAL-TRIO domain
  • a DH (DBL-homology) domain
  • a PH domain
  • and the C-terminal SH3 domain
  • HOMOLOGY
    interspecies homolog to rattus Mcf2l (87.9 pc)
    homolog to murine Mcf2l (90.3 pc)
    Homologene
    FAMILY
    CATEGORY regulatory , protooncogene , signaling
    SUBCELLULAR LOCALIZATION extracellular
        plasma membrane
        intracellular
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    intracellular,cytoplasm,organelle,Golgi
    intracellular,cytoplasm,cytosolic
    basic FUNCTION
  • acting as a guanine nucleotide exchange factor that potentially links pathways that signal through RAC1, RHOA and CDC42
  • catalyzing guanine nucleotide exchange on RHOA and CDC42
  • functioning as an effector of RAC1
  • may also participate in axonal transport in the brain
  • guanine nucleotide exchange factor that has been shown to regulate both normal and tumor cell motility
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling signal transduction
  • regulation of Rho protein signal transduction
  • a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interacts specifically with the GTP-bound form of RAC1
  • role in negative regulation of receptor endocytosis by the small GTPase RAC1
  • MCF2L is a guanine exchange factor that potentially links pathways that signal through RAC1 and RHOA
  • cell & other
    REGULATION
    Other activated and highly tumorigenic by truncation of the N-terminus
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Susceptibility
  • to Osteoarthritis (OA)
  • to premature atherosclerosis
  • Variant & Polymorphism SNP
  • rs11842874 is positioned within a small linkage disequilibrium (LD) block within intron 4 of MCF2L and is associated with Osteoarthritis (OA)
  • rare variant in MCF2L identified in a pedigree with premature atherosclerosis
  • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS