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FLASH GENE
Symbol CBFA2T3 contributors: mct/npt/pgu - updated : 31-03-2012
HGNC name core-binding factor, runt domain, alpha subunit 2; translocated to, 3
HGNC id 1537
Location 16q24.3      Physical location : 88.941.266 - 89.043.401
Synonym name
  • myeloid translocation gene, related 2
  • MTG8-related gene 2
  • myeloid translocation gene on chromosome 16
  • zinc finger MYND domain-containing protein 4
  • protein CBFA2T3
  • Synonym symbol(s) MTGR2, MTG16, EVI31, ETO2, ZMYND4
    DNA
    TYPE functioning gene
    STRUCTURE 102.14 kb     12 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    regulatory sequence alternative promoter
    MAPPING cloned Y linked N status confirmed
    Map cen - D16S516 - D16S422 - D16S520 - CBFA2T3 - qter
    Physical map
    BANP 16q24 dipeptidase 1 (renal) LOC388306 16 LOC388306 LOC390747 16 similar to proline rich protein ZNF469 16q24 zinc finger protein 469 ZFPM1 16q24.3 zinc finger protein, multitype 1 LOC124245 16q24.3 hypothetical protein BC001584 IL17C 16q24 interleukin 17C CYBA 16q24.2 cytochrome b-245, alpha polypeptide MVD 16q24.2 mevalonate (diphospho) decarboxylase SNAI3 16q24.3 snail homolog 3 (Drosophila) MGC2647 16q24.3 hypothetical zinc finger protein MGC2647 LOC388307 16 similar to LOC348180 protein LOC348180 16q24.3 hypothetical protein LOC348180 KIAA0233 16q24.3 hypothetical protein LOC348180 FLJ40448 16q24.3 hypothetical protein FLJ40448 CDT1 16q24.3 DNA replication factor APRT 16q24.3 adenine phosphoribosyltransferase GALNS 16q24.2 galactosamine (N-acetyl)-6-sulfate sulfatase (Morquio syndrome, mucopolysaccharidosis type IVA) LOC51693 16q24.3 unknown LOC390748 16 similar to putative polyA-binding protein PABPN2/ePABP2 CBFA2T3 16q24.3 core-binding factor, runt domain, alpha subunit 2; translocated to, 3 LOC390749 16 LOC390749 LOC197322 16q24.3 hypothetical protein LOC197322 FLJ36701 16q24.3 hypothetical protein FLJ36701 CDH15 16q24.3 cadherin 15, M-cadherin (myotubule) LOC388308 16 similar to Brain-type organic cation transporter FLJ31875 16q24.3 hypothetical protein FLJ31875 ANKRD11 16q24.3 ankyrin repeat domain 16 LOC390750 16 similar to Hypothetical protein CBG22662 LOC390751 16 LOC390751 SPG7 16q24.3 spastic paraplegia 7, paraplegin (pure and complicated autosomal recessive) RPL13 16q24.3 ribosomal protein L13 CPNE7 16q24.3 copine VII DPEP1 16q24.3 dipeptidase 1 (renal)
    RNA
    TRANSCRIPTS type messenger
    text several and minor transcript expressed in various tissues
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    12 - 4265 - 653 - 2008 18456661
    localized in the nucleolus
    11 - 4034 - 567 widely 2008 18456661
  • kinase anchoring protein in T lymphocytes
  • localized in the nucleoplasm
  • EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    blood / hematopoieticspleen   highly
     thymus   highly
    Digestiveliver   highly
    Endocrinepancreas   highly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Blood / Hematopoieticbone marrow   
    Epithelialsecretoryglandularendocrine 
    Lymphoid    
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Blood/Hematopoieticmonocyte
    Nervousoptic nerve
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period fetal
    Text
  • fetal liver, eyes, lens, eye anterior segment, optic nerve, retina, retina foveal and macula, RPE and choroid
  • expressed in distinct patterns in the developing nervous system
  • PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • four proline, serine/threonine rich regions
  • a zinc finger domain
  • four NERVY homology domains (NHR1, NHR2, NHR3, NHR4; NHR3 and NHR4 interact with a conserved proline-rich region located within the C terminus of ZNF652)
  • HOMOLOGY
    interspecies homolog to Drosophila nervy
    ortholog to murine Cbfa 2t3h
    Homologene
    FAMILY
  • myeloid translocation gene (MTG) family of transcriptional corepressors
  • CBFA2T family
  • CATEGORY transcription factor , tumor suppressor
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,Golgi
    intracellular,nucleus,nucleoplasm
    intracellular,nucleus,nucleolus
    basic FUNCTION
  • control of cell proliferation
  • functioning as a transcriptional repressor in normal breast epithelial cells
  • involved in the chromatin repression
  • interfaces with critical components of the Notch transcription complex to affect Notch-dependent lineage allocation in hematopoiesis
  • a key component of the Notch regulatory network implicated in Notch-dependent transcriptional activation
  • integrates the activities of signaling pathways and nuclear factors in the establishment of T-cell fate specification
  • CELLULAR PROCESS nucleotide, transcription
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • ZNF652 strongly interacts with CBFA2T3 and this interaction occurs through the C-terminal 109 amino acids of ZNF652
  • RUNX1T1 and CBFA2T3, are fused to the DNA-binding domain of AML1, a transcriptional activator crucial for hematopoiesis
  • interacts with each member of the Notch receptor family
  • NEUROG2 and ASCL1 are inhibited by CBFA2T2 and CBFA2T3, and less efficiently by RUNX1T1
  • cell & other
  • core binding
  • REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral   translocation    
    targeted by t(16;21) in acute myeloid leukemia, and is required for hematopoietic progenitor cell fate decisions and for early progenitor cell proliferation
    tumoral   translocation    
    CBFA2T3/ACSF3 locus is a novel recurrent oncogenic target of IGH translocations, which might contribute to the pathogenesis of pediatric germinal center-derived B-cell lymphoma
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • Mice with constitutive deletion of Mtg16 display defects in hematopoietic stem/progenitor cell functions