Atlas of Genetics and Cytogenetics in Oncology and Haematology

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TCF12 (transcription factor 12)

Identity

Other namesHTF4
HEB
HGNC (Hugo) TCF12
LocusID (NCBI) 6938
Location 15q21.3
Location_base_pair Starts at 57210833 and ends at 57580714 bp from pter ( according to hg19-Feb_2009)  [Mapping]

DNA/RNA

Description spans 370 kb; 21 exons.
Transcription two alternatively spliced transcripts of 4745 bp and 4077 bp.

Protein

Description 682 aa, 73 kDa; serine rich N-terminus containing a potential leuzine zipper domain; C-terminus containing a bHLH-domain as well as a class A-specific domain.
Expression ubiquitous
Localisation nuclear
Function basic helix-loop-helix (bHLH) transcription factor belonging to the class A family; acts as a general negative regulator of cell proliferation; binds specifically to oligomers of E-box motifs; forms heterodimers with other bHLH proteins of both class A and class B, e.g. E2A, TAL1, myogenin and MyoD; implicated in myogenesis, hematopoiesis and neurogenesis.
Homology TCF3 and TCF4

Implicated in

Entity Extraskeletal myxoid chondrosarcoma with t(9;15)(q22;q21).
Disease rare type of sarcoma (2.3% of all soft tissue sarcomas) characteristically involving the deep, soft tissues of the extremities; morphological resemblance to embryonic cartilage.
Hybrid/Mutated Gene TCF12-TEC
Abnormal Protein N-terminal domain of TCF12 fused to the entire TEC protein; the translocation separates the N-terminal of TCF12 from the bHLH domain as well as from a potential leucine zipper domain; the N-terminal of TCF12 shows no sequence homology to the N-terminals of EWSR1 or TAF2N.
  

External links

Nomenclature
HGNC (Hugo)TCF12   11623
Entrez_Gene (NCBI)TCF12  6938  transcription factor 12
Cards
AtlasTCF12ID406
GeneCards (Weizmann)TCF12
Ensembl (Hinxton)ENSG00000140262 [Gene_View]  chr15:57210833-57580714 [Contig_View]  TCF12 [Vega]
AceView (NCBI)TCF12
Genatlas (Paris)TCF12
SOURCE (Stanford)NM_003205 NM_207036 NM_207037 NM_207038 NM_207040
Genomic and cartography
GoldenPath (UCSC)TCF12  -  15q21.3   chr15:57210833-57580714 +  15q21   [Description]    (hg19-Feb_2009)
EnsemblTCF12 - 15q21 [CytoView]
Mapping of homologs : NCBITCF12 [Mapview]
OMIM600480   
Gene and transcription
Genbank (Entrez)AK022018 AK056961 AK294617 AK294991 AK302749
RefSeq transcript (SRS)NM_003205 NM_207036 NM_207037 NM_207038 NM_207040
RefSeq transcript (Entrez)NM_003205 NM_207036 NM_207037 NM_207038 NM_207040
RefSeq genomic (SRS)AC_000147 NC_000015 NC_018926 NT_010194 NW_001838218 NW_004929398
RefSeq genomic (Entrez)AC_000147 NC_000015 NC_018926 NT_010194 NW_001838218 NW_004929398
Consensus coding sequences : CCDS (NCBI)TCF12
Cluster EST : UnigeneHs.511504 [ SRS ] Hs.511504 [ NCBI ]
CGAP (NCI)Hs.511504
Alternative Splicing : Fast-db (Paris)GSHG0009884
Alternative Splicing GalleryENSG00000140262
Gene ExpressionTCF12 [ NCBI-GEO ]   TCF12 [ EBI - ARRAY_EXPRESS ]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ99081 (SRS) Q99081 (Uniprot)
NextProtQ99081  [Medical]
With graphics : InterProQ99081
Splice isoforms : SwissVarQ99081(Swissvar)
Domaine pattern : Prosite (SRS)BHLH (PS50888)   
Domaine pattern : Prosite (Expaxy)BHLH (PS50888)   
Domains : Interpro (SRS)bHLH_dom   
Domains : Interpro (EBI)bHLH_dom   
Related proteins : CluSTrQ99081
Domain families : Pfam (SRS)HLH (PF00010)   
Domain families : Pfam (Sanger)HLH (PF00010)   
Domain families : Pfam (NCBI)pfam00010   
Domain families : Smart (EMBL)HLH (SM00353)  
DMDM6938
Blocks (Seattle)Q99081
PDB (SRS)2KNH    4JOL   
PDB (PDBSum)2KNH    4JOL   
PDB (IMB)2KNH    4JOL   
PDB (RSDB)2KNH    4JOL   
Human Protein AtlasENSG00000140262
HPRD02725
IPIIPI00012966   IPI00384979   IPI00384333   IPI01010229   IPI01013422   IPI01018775   IPI00940466   IPI01009406   IPI00883875   
Protein Interaction databases
DIP (DOE-UCLA)Q99081
IntAct (EBI)Q99081
FunCoupENSG00000140262
REACTOMETCF12
Protein Interaction Database6938
BioGRIDTCF12
InParanoidQ99081
Interologous Interaction database Q99081
IntegromeDBTCF12
Gene fusion - rearrangments
Rearrangement : COSMICTCF12 [15q21.3]  -  NR4A3 [9q22.33]
Translocation Breakpoints in Cancer : TICdbTCF12 
Polymorphism : SNP, mutations, diseases
SNP Single Nucleotide Polymorphism (NCBI)TCF12
SNP (GeneSNP Utah)TCF12
SNP : HGBaseTCF12
Genetic variants : HAPMAPTCF12
Somatic Mutations in Cancer : COSMICTCF12 
CONAN: Copy Number AnalysisTCF12 
Mutations and Diseases : HGMDTCF12
OMIM600480   
GENETests600480   
Disease Genetic AssociationTCF12
Huge Navigator TCF12 [HugePedia]  TCF12 [HugeCancerGEM]
Genomic VariantsTCF12  TCF12 [DGVbeta]
ClinVarTCF12
snp3D : Map Gene to Disease6938
General knowledge
Homologs : HomoloGeneTCF12
Homology/Alignments : Family Browser (UCSC)TCF12
Phylogenetic Trees/Animal Genes : TreeFamTCF12
Chemical/Protein Interactions : CTD6938
Chemical/Pharm GKB GenePA36381
Clinical trialTCF12
Cancer Resource (Charite)ENSG00000140262
Ontology : AmiGOsequence-specific DNA binding transcription factor activity  protein binding  nucleus  transcription factor complex  transcription, DNA-templated  regulation of transcription from RNA polymerase II promoter  immune response  muscle organ development  transcription regulatory region DNA binding  positive regulation of neuron differentiation  positive regulation of transcription, DNA-dependent  protein heterodimerization activity  E-box binding  
Ontology : EGO-EBIsequence-specific DNA binding transcription factor activity  protein binding  nucleus  transcription factor complex  transcription, DNA-templated  regulation of transcription from RNA polymerase II promoter  immune response  muscle organ development  transcription regulatory region DNA binding  positive regulation of neuron differentiation  positive regulation of transcription, DNA-dependent  protein heterodimerization activity  E-box binding  
Other databases
Probes
Litterature
PubMed54 Pubmed reference(s) in Entrez
PubGeneTCF12
iHOPTCF12

Bibliography

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Localization of the human HTF4 transcription factors 4 gene (TCF12) to chromosome 15q21.
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Fusion of the EWS-related gene TAF2N to TEC in extraskeletal myxoid chondrosarcoma.
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Class A helix-loop-helix proteins are positive regulators of several cyclin-dependent kinase inhibitors' promoter activity and negatively affect cell growth.
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PMID 10728702
 
Fusion of the NH2-terminal domain of the basic helix-loop-helix protein TCF12 to TEC in extraskeletal myxoid chondrosarcoma with translocation t(9;15)(q22;q21).
Sjˆgren H, Wedell B, Meis-Kindblom JM, Kindblom LG, Stenman G
Cancer research. 2000 ; 60 (24) : 6832-6835.
PMID 11156374
 
Genomic organization of human TCF12 gene and spliced mRNA variants producing isoforms of transcription factor HTF4.
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PMID 12826747
 
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Contributor(s)

Written07-2003Goran Stenman

Citation

This paper should be referenced as such :
Stenman G . TCF12 (transcription factor 12). Atlas Genet Cytogenet Oncol Haematol. July 2003 .
URL : http://AtlasGeneticsOncology.org/Genes/TCF12ID406.html

The various updated versions of this paper are referenced and archived by INIST as such :
http://documents.irevues.inist.fr/bitstream/2042/37986/1/07-2003-TCF12ID406.pdf   [ Bibliographic record ]

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