TCF12 (transcription factor 12)

Identity

Other names	HTF4
	HEB
Hugo	TCF12
Location	15q21

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
Hugo	TCF12
GDB	TCF12
Entrez_Gene	TCF12  6938  transcription factor 12 (HTF4, helix-loop-helix transcription factors 4)
	Cards
Atlas	TCF12ID406
GeneCards	TCF12
Ensembl	TCF12 [Search_View]   ENSG00000140262 [Gene_View]
Genatlas	TCF12
GeneLynx	TCF12
eGenome	TCF12
euGene	6938
	Genomic and cartography
GoldenPath	TCF12  -  15q21   chr15:54998125-55368004 +  15q21    (hg18-Mar_2006)
Ensembl	TCF12 - 15q21 [CytoView]
NCBI	Mapview
OMIM	Disease map [OMIM]
HomoloGene	TCF12
	Gene and transcription
Genbank	AK022018 [ ENTREZ ]
Genbank	AK056961 [ ENTREZ ]
Genbank	AL831981 [ ENTREZ ]
Genbank	AM393573 [ ENTREZ ]
Genbank	AM393720 [ ENTREZ ]
RefSeq	NM_003205 [ SRS ]    NM_003205 [ ENTREZ ]
RefSeq	NM_207036 [ SRS ]    NM_207036 [ ENTREZ ]
RefSeq	NM_207037 [ SRS ]    NM_207037 [ ENTREZ ]
RefSeq	NM_207038 [ SRS ]    NM_207038 [ ENTREZ ]
RefSeq	NM_207040 [ SRS ]    NM_207040 [ ENTREZ ]
RefSeq	AC_000058 [ SRS ]    AC_000058 [ ENTREZ ]
RefSeq	NC_000015 [ SRS ]    NC_000015 [ ENTREZ ]
RefSeq	NT_010194 [ SRS ]    NT_010194 [ ENTREZ ]
RefSeq	NW_925884 [ SRS ]    NW_925884 [ ENTREZ ]
AceView	TCF12 AceView - NCBI
Unigene	Hs.511504 [ SRS ]    Hs.511504 [ NCBI ]     HS511504 [ spliceNest ]
Fast-db	5807 (alternative variants)
	Protein : pattern, domain, 3D structure
SwissProt	Q99081 [ SRS]    Q99081 [ EXPASY ]     Q99081 [ INTERPRO ]
Prosite	PS50888 HLH [ SRS ]    PS50888 HLH [ Expasy ]
Interpro	IPR001092 HLH_basic [ SRS ]    IPR001092 HLH_basic [ EBI ]
Interpro	IPR011598 HLH_DNA_bd [ SRS ]    IPR011598 HLH_DNA_bd [ EBI ]
CluSTr	Q99081
Pfam	PF00010 HLH [ SRS ]    PF00010 HLH [ Sanger ]    pfam00010 [ NCBI-CDD ]
Smart	SM00353 HLH [EMBL]
Blocks	Q99081
HPRD	02725
	Protein Interaction databases
DIP	Q99081
IntAct	Q99081
	Polymorphism : SNP, mutations, diseases
OMIM	600480    [ map ]
GENECLINICS	600480
SNP	TCF12 [dbSNP-NCBI]
SNP	NM_003205 [SNP-NCI]
SNP	NM_207036 [SNP-NCI]
SNP	NM_207037 [SNP-NCI]
SNP	NM_207038 [SNP-NCI]
SNP	NM_207040 [SNP-NCI]
SNP	TCF12 [GeneSNPs - Utah]  TCF12] [HGBASE - SRS]
HAPMAP	TCF12 [HAPMAP]
COSMIC	TCF12 [Somatic mutation (COSMIC-CGP-Sanger)]
HGMD	TCF12
	General knowledge
Family Browser	TCF12 [UCSC Family Browser]
SOURCE	NM_003205
SOURCE	NM_207036
SOURCE	NM_207037
SOURCE	NM_207038
SOURCE	NM_207040
SMD	Hs.511504
SAGE	Hs.511504
GO	DNA binding [Amigo]  DNA binding
GO	RNA polymerase II transcription factor activity [Amigo]  RNA polymerase II transcription factor activity
GO	intracellular [Amigo]  intracellular
GO	nucleus [Amigo]  nucleus
GO	regulation of transcription from RNA polymerase II promoter [Amigo]  regulation of transcription from RNA polymerase II promoter
GO	immune response [Amigo]  immune response
GO	multicellular organismal development [Amigo]  multicellular organismal development
GO	muscle development [Amigo]  muscle development
GO	transcription regulator activity [Amigo]  transcription regulator activity
GO	regulation of transcription [Amigo]  regulation of transcription
PubGene	TCF12
TreeFam	TCF12
	Other databases
	Probes
Probe	TCF12 Related clones (RZPD - Berlin)
	PubMed
PubMed	28 Pubmed reference(s) in LocusLink

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

%5BTI%5D%20OR%20HEB%5BTI%5D%20)%20AND%20REVIEW%5BPT%5D%20AND%20ENGLISH%5BLA%5D&field=titl&dispmax=50>REVIEW articles	automatic search in PubMed
%5BTI%5D%20OR%20HEB%5BTI%5D%20)%20AND%20(2006%5BDP%5D%20OR%202007%20OR%202008%5BDP%5D)&field=titl&dispmax=50>Last year publications	automatic search in PubMed

Search in all EBI   NCBI

Contributor(s)

Written	07-2003	Goran 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

© Atlas of Genetics and Cytogenetics in Oncology and Haematology

indexed on : Mon May 12 18:09:35 2008