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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.
  

Other Solid tumors implicated (Data extracted from papers in the Atlas)

Solid Tumors AmeloblastomID5945 MedulloblastomaID5065 rhab5004

External links

Nomenclature
HGNC (Hugo)TCF12   11623
Cards
AtlasTCF12ID406
Entrez_Gene (NCBI)TCF12  6938  transcription factor 12
GeneCards (Weizmann)TCF12
Ensembl (Hinxton)ENSG00000140262 [Gene_View]  chr15:57210833-57580714 [Contig_View]  TCF12 [Vega]
ICGC DataPortalENSG00000140262
cBioPortalTCF12
AceView (NCBI)TCF12
Genatlas (Paris)TCF12
WikiGenes6938
SOURCE (Princeton)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   615314   
Gene and transcription
Genbank (Entrez)AK022018 AK056961 AK294617 AK294991 AK302749
RefSeq transcript (Entrez)NM_003205 NM_207036 NM_207037 NM_207038 NM_207040
RefSeq genomic (Entrez)AC_000147 NC_000015 NC_018926 NG_033851 NT_010194 NW_001838218 NW_004929398
Consensus coding sequences : CCDS (NCBI)TCF12
Cluster EST : UnigeneHs.511504 [ NCBI ]
CGAP (NCI)Hs.511504
Alternative Splicing : Fast-db (Paris)GSHG0009884
Alternative Splicing GalleryENSG00000140262
Gene ExpressionTCF12 [ NCBI-GEO ]     TCF12 [ SEEK ]   TCF12 [ MEM ]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ99081 (Uniprot)
NextProtQ99081  [Medical]
With graphics : InterProQ99081
Splice isoforms : SwissVarQ99081 (Swissvar)
Domaine pattern : Prosite (Expaxy)BHLH (PS50888)   
Domains : Interpro (EBI)bHLH_dom [organisation]  
Related proteins : CluSTrQ99081
Domain families : Pfam (Sanger)HLH (PF00010)   
Domain families : Pfam (NCBI)pfam00010   
Domain families : Smart (EMBL)HLH (SM00353)  
DMDM Disease mutations6938
Blocks (Seattle)Q99081
PDB (SRS)2KNH    4JOL   
PDB (PDBSum)2KNH    4JOL   
PDB (IMB)2KNH    4JOL   
PDB (RSDB)2KNH    4JOL   
Human Protein AtlasENSG00000140262 [gene] [tissue] [antibody] [cell] [cancer]
Peptide AtlasQ99081
HPRD02725
IPIIPI00012966   IPI00384979   IPI00384333   IPI01010229   IPI01013422   IPI01018775   IPI00940466   IPI01009406   IPI00883875   
Protein Interaction databases
DIP (DOE-UCLA)Q99081
IntAct (EBI)Q99081
FunCoupENSG00000140262
BioGRIDTCF12
InParanoidQ99081
Interologous Interaction database Q99081
IntegromeDBTCF12
STRING (EMBL)TCF12
Ontologies - Pathways
Ontology : AmiGOnuclear chromatin  sequence-specific DNA binding transcription factor activity  protein binding  nucleus  transcription factor complex  cytoplasm  transcription, DNA-templated  regulation of transcription from RNA polymerase II promoter  immune response  muscle organ development  transcription factor binding  enhancer binding  bHLH transcription factor binding  transcription regulatory region DNA binding  positive regulation of neuron differentiation  positive regulation of transcription, DNA-templated  SMAD binding  protein heterodimerization activity  E-box binding  
Ontology : EGO-EBInuclear chromatin  sequence-specific DNA binding transcription factor activity  protein binding  nucleus  transcription factor complex  cytoplasm  transcription, DNA-templated  regulation of transcription from RNA polymerase II promoter  immune response  muscle organ development  transcription factor binding  enhancer binding  bHLH transcription factor binding  transcription regulatory region DNA binding  positive regulation of neuron differentiation  positive regulation of transcription, DNA-templated  SMAD binding  protein heterodimerization activity  E-box binding  
Protein Interaction DatabaseTCF12
Wikipedia pathwaysTCF12
Gene fusion - rearrangments
Rearrangement : COSMICTCF12 [15q21.3]  -  NR4A3 [9q22.33]  
  [COSF754] [COSF755] 
Polymorphisms : SNP, mutations, diseases
SNP Single Nucleotide Polymorphism (NCBI)TCF12
snp3D : Map Gene to Disease6938
SNP (GeneSNP Utah)TCF12
SNP : HGBaseTCF12
Genetic variants : HAPMAPTCF12
Exome VariantTCF12
1000_GenomesTCF12 
ICGC programENSG00000140262 
Cancer Gene: CensusTCF12 
Somatic Mutations in Cancer : COSMICTCF12 
CONAN: Copy Number AnalysisTCF12 
Mutations and Diseases : HGMDTCF12
Mutations and Diseases : intOGenTCF12
Genomic VariantsTCF12  TCF12 [DGVbeta]
dbVarTCF12
ClinVarTCF12
Pred. of missensesPolyPhen-2  SIFT(SG)  SIFT(JCVI)  Align-GVGD  MutAssessor  Mutanalyser  
Pred. splicesGeneSplicer  Human Splicing Finder  MaxEntScan  
Diseases
OMIM600480    615314   
MedgenTCF12
GENETestsTCF12
Disease Genetic AssociationTCF12
Huge Navigator TCF12 [HugePedia]  TCF12 [HugeCancerGEM]
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
Other databases
Probes
Litterature
PubMed56 Pubmed reference(s) in Entrez
CoreMineTCF12
iHOPTCF12
OncoSearchTCF12

Bibliography

HTF4: a new human helix-loop-helix protein.
Zhang Y, Babin J, Feldhaus AL, Singh H, Sharp PA, Bina M
Nucleic acids research. 1991 ; 19 (16) : page 4555.
PMID 1886779
 
HEB, a helix-loop-helix protein related to E2A and ITF2 that can modulate the DNA-binding ability of myogenic regulatory factors.
Hu JS, Olson EN, Kingston RE
Molecular and cellular biology. 1992 ; 12 (3) : 1031-1042.
PMID 1312219
 
The nucleotide sequence of the human transcription factor HTF4a cDNA.
Zhang Y, Bina M
DNA sequence : the journal of DNA sequencing and mapping. 1992 ; 2 (6) : 397-403.
PMID 1446075
 
A heterodimer of HEB and an E12-related protein interacts with the CD4 enhancer and regulates its activity in T-cell lines.
Sawada S, Littman DR
Molecular and cellular biology. 1993 ; 13 (9) : 5620-5628.
PMID 8355705
 
Distinguishable patterns of protein-DNA interactions involving complexes of basic helix-loop-helix proteins.
Doyle K, Zhang Y, Baer R, Bina M
The Journal of biological chemistry. 1994 ; 269 (16) : 12099-12105.
PMID 8163514
 
Oncogenic conversion of a novel orphan nuclear receptor by chromosome translocation.
Labelle Y, Zucman J, Stenman G, Kindblom LG, Knight J, Turc-Carel C, Dockhorn-Dworniczak B, Mandahl N, Desmaze C, Peter M
Human molecular genetics. 1995 ; 4 (12) : 2219-2226.
PMID 8634690
 
Localization of the human HTF4 transcription factors 4 gene (TCF12) to chromosome 15q21.
Zhang Y, Flejter WL, Barcroft CL, RiviˆŪre M, Szpirer J, Szpirer C, Bina M
Cytogenetics and cell genetics. 1995 ; 68 (3-4) : 235-238.
PMID 7842744
 
bHLH transcription factors and mammalian neuronal differentiation.
Kageyama R, Ishibashi M, Takebayashi K, Tomita K
The international journal of biochemistry & cell biology. 1997 ; 29 (12) : 1389-1399.
PMID 9570134
 
Muscle differentiation: more complexity to the network of myogenic regulators.
Arnold HH, Winter B
Current opinion in genetics & development. 1998 ; 8 (5) : 539-544.
PMID 9794824
 
Fusion of the EWS-related gene TAF2N to TEC in extraskeletal myxoid chondrosarcoma.
Sjˆgren H, Meis-Kindblom J, Kindblom LG, Aman P, Stenman G
Cancer research. 1999 ; 59 (20) : 5064-5067.
PMID 10537274
 
Class A helix-loop-helix proteins are positive regulators of several cyclin-dependent kinase inhibitors' promoter activity and negatively affect cell growth.
Pagliuca A, Gallo P, De Luca P, Lania L
Cancer research. 2000 ; 60 (5) : 1376-1382.
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.
Gan TI, Rowen L, Nesbitt R, Roe BA, Wu H, Hu P, Yao Z, Kim UJ, O'Sickey T, Bina M
Cytogenetic and genome research. 2002 ; 98 (4) : 245-248.
PMID 12826747
 
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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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. 2003;7(3):174-175.
Free online version   Free pdf version   [Bibliographic record ]
URL : http://AtlasGeneticsOncology.org/Genes/TCF12ID406.html

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indexed on : Mon Sep 22 18:27:10 CEST 2014

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