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FLASH GENE
Symbol TCF12 contributors: mct/shn - updated : 21-10-2012
HGNC name transcription factor 12
HGNC id 11623
Location 15q21.3      Physical location : 57.210.832 - 57.580.712
Synonym name
  • transcription factor 12 (HTF4, helix-loop-helix transcription factors 4)
  • helix-loop-helix transcription factors 4
  • DNA-binding protein HTF4
  • E-box-binding protein
  • class B basic helix-loop-helix protein 20
  • transcription factor HTF-4
  • Synonym symbol(s) HTF4, HEB, HsT17266, bHLHb20, TCF-12
    DNA
    TYPE functioning gene
    STRUCTURE 369.88 kb     21 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    Map cen - D15S121 - D15S962 - TCF12 - D15S998 - D15S1022 - qter
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    21 splicing 4806 - 706 - 2002 12826747
    20 splicing 4717 - 682 - 2002 12826747
    20 splicing 4734 - 682 - 2002 12826747
    21 splicing 4796 - 706 - 2004 15351717
    13 splicing 3995 - 512 - 2004 15351717
    EXPRESSION
    Rna function skeletal muscle, thymus and B cell
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestivestomach   moderately Mus musculus
    Lymphoid/Immunethymus   highly Mus musculus
    Reproductivefemale systemovary  moderately Mus musculus
    Respiratorylung   moderately Mus musculus
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Muscularstriatumskeletal moderately Homo sapiensNM_207040
    cell lineage HeLa, HPS-ALL T
    cell lines
    fluid/secretion
    at STAGE
    physiological period fetal
    Text eye
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a basic helix-loop-helix (bhlh) domain
  • HOMOLOGY
    interspecies ortholog to Tcf12, Mus musculus
    ortholog to Tcf12, Rattus norvegicus
    ortholog to tcf12, Danio rerio
    ortholog to TCF12, Pan troglodytes
    intraspecies paralog to TCF3, TCF4
    Homologene
    FAMILY
  • basic helix-loop-helix (BHLH) family of transcription factors
  • E protein family
  • CATEGORY transcription factor
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,nucleus
    basic FUNCTION
  • involved in differentiation of muscle cells and in regulation of gene expression during hematopoiesis
  • may be participating in regulating lineage-specific gene expression through the formation of heterodimers with other bHLH E-proteins
  • may play important roles during development of the nervous system as well as in other organ systems
  • playing a roles in thymocyte development
  • major role for the functional interaction of AML1/RUNX1T1 with AML1 and TCF12 in transcriptional regulation determined by the fusion protein
  • functioned in T-cell development and regulation by heterodimerizing with other class I HLH proteins
  • CELLULAR PROCESS nucleotide, transcription
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • dosage of TCF12-TWIST1 heterodimers is critical for normal coronal suture development
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • Id1, Id2, and Id3
  • pT alpha E2A
  • direct target of CBFA2T3-ZNF652-mediated transcriptional repression
  • SMAD complex-associated (SCA) motif of SMAD2/3 and FOXH1
  • TCF12 functioned as a transcriptional repressor of CDH1 and its overexpression was significantly correlated with the occurrence of CRC metastasis
  • transcriptionally repressed CDH1 expression via polycomb group-repressive complex1 and 2 participation
  • TCF12 expression is required for secreted HSP90AA1 to enhance colorectal cancer cell spreading
  • cell & other
    REGULATION
    Other regulated by CBFA2T3-ZNF652 (CBFA2T3-ZNF652-mediated TCF12 regulation may play an important role in hematopoiesis and myogenesis)
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral   translocation    
    translocated with NR4A3 t(9;15) (q22;q21) in myxoid chondrosarcoma
    tumoral     --over  
    level of TCF12 increased in both primary cells and cell lines expressing RUNX1/RUNX1T1 (major role for the functional interaction of RUNX1/RUNX1T1 with RUNX1 and TCF12 in transcriptional regulation determined by the fusion protein
    tumoral     --over  
    in colorectal cancer
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS