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TAL2 (T-cell acute lymphoblastic leukemia 2)

Identity

HGNC TAL2
Location 9q31
Local_order from centromere to telomere: CSDUFD1, MGC45564, FCMD, TAL2, C9ort87, ZNF462

DNA/RNA

Description exons 1a, 2, 3, and 1b located 5-8 kb upstream of exon 4; coding region in exon 4 (326 bp)
Transcription various mRNA isoforms were found in SUP-T3 and in the mouse, which also encompass upstream exons; gene products, however, always corresponded to the TAL2 protein encoded by exon 4

Protein

Description 108 amino acids; basic Helix Loop Helix motif for protein dimerization and DNA-binding
Expression in adult testes; in developing midbrain, dorsal diencephalon, rostroventral diencaphalic/telencephalic boundary, and anterior pons; pivotal role in the development of the mature central nervous system; not expressed during normal hematopoietic development
Function transcription factor; TAL2 dimerizes with members of the class A subgroup of bHLH proteins (ie E47, E12, E2-2, HEB), as well as LIM-only proteins LMO1 and LMO2; heterodimers are formed intracellularly through stable interaction between bHLH domains of TAL2 and E47; TAL2/E47 heterodimers bind DNA in a sequence-specific manner that is dependent on the E-box element; TAL2/E12 heterodimers also have DNA-binding activity; TAL2 does not bind DNA in absence of E2A proteins; a significant fraction (60%) of TAL2 polypeptides from SUP-T3 exist in phosphorylated form, the rest is unphosphorylated; serine residue 100 of TAL2 is the potential site of phosphorylation by MAP kinases.
Homology TAL1 at 1p31, LYL1 at 19p13; TAL2, TAL1, and LYL1 share more than 85% amino acid identity in the bHLH domain and are thus more related to one other than to other bHLH proteins, for instance c-myc

Implicated in

Entity t(7;9)(q34;q32) -->TAL2-TCRB
Disease T cell acute lymphoblastic leukemia found in < 1% of ALL, in 1-2% of T-ALL, rare but recurrent
Hybrid/Mutated Gene Translocation of part of TCRB locus to a breakpoint 33 kb downstream of TAL2 mediated by the V(D)J recombinase via a fortuitous recombination signal sequence (YRSS) on chromosome 9; the translocation results in a signal joint fusion of TAL2 YRSS with the Db1 23-RSS; this gene product was detected in 6 of 10 thymus samples of healthy children with an estimated frequency of 1 in 10 million thymic cells; only upon secondary rearrangement of the TAL2/Db signal joint to the Jb2.6 segment, and deletion of the intervening sequence, the typical TAL2/Jb2.6 T-ALL junctions could be observed which presumably lead to overexpression of TAL2 and development of leukemia.
Abnormal Protein TAL2 placed under control of TCRB enhancer leading to overexpression of TAL2 in T-cells and development of leukemia
  

External links

Nomenclature
HGNCTAL2   11557
Entrez_GeneTAL2  6887  T-cell acute lymphocytic leukemia 2
Cards
AtlasTAL2ID28ch9q31
GeneCardsTAL2
EnsemblTAL2 [Search_View]   ENSG00000186051 [Gene_View]
GenatlasTAL2
GeneLynxTAL2
eGenomeTAL2
euGene6887
Genomic and cartography
GoldenPathTAL2  -  9q31   chr9:107464599-107464925 +  9q32   [Description]    (hg18-Mar_2006)
EnsemblTAL2 - 9q32 [CytoView]
NCBIMapview
OMIMDisease map [OMIM]
HomoloGeneTAL2
Gene and transcription
GenbankBC069422 [ ENTREZ ]
GenbankBC126373 [ ENTREZ ]
GenbankBC126375 [ ENTREZ ]
RefSeqNM_005421 [ SRS ]    NM_005421 [ ENTREZ ]
RefSeqAC_000052 [ SRS ]    AC_000052 [ ENTREZ ]
RefSeqAC_000141 [ SRS ]    AC_000141 [ ENTREZ ]
RefSeqNC_000009 [ SRS ]    NC_000009 [ ENTREZ ]
RefSeqNT_008470 [ SRS ]    NT_008470 [ ENTREZ ]
RefSeqNW_001839236 [ SRS ]    NW_001839236 [ ENTREZ ]
RefSeqNW_924539 [ SRS ]    NW_924539 [ ENTREZ ]
AceViewTAL2 AceView - NCBI
UnigeneHs.247978 [ SRS ]    Hs.247978 [ NCBI ]     HS247978 [ spliceNest ]
Fast-db12426 (alternative variants)
Protein : pattern, domain, 3D structure
SwissProtQ16559 [ SRS]    Q16559 [ EXPASY ]     Q16559 [ INTERPRO ]     Q16559 [ UNIPROT ]
PrositePS50888 HLH [ SRS ]    PS50888 HLH [ Expasy ]
InterproIPR001092 HLH_basic [ SRS ]    IPR001092 HLH_basic [ EBI ]
InterproIPR011598 HLH_DNA_bd [ SRS ]    IPR011598 HLH_DNA_bd [ EBI ]
CluSTrQ16559
PfamPF00010 HLH [ SRS ]    PF00010 HLH [ Sanger ]    pfam00010 [ NCBI-CDD ]
SmartSM00353 HLH [EMBL]
BlocksQ16559
HPRD01735
Protein Interaction databases
DIPQ16559
IntActQ16559
Polymorphism : SNP, mutations, diseases
OMIM186855    [ map ]   
GENECLINICS186855
SNPTAL2 [dbSNP-NCBI]  
SNPNM_005421 [SNP-NCI]  
SNPTAL2 [GeneSNPs - Utah]  TAL2] [HGBASE - SRS]
HAPMAPTAL2 [HAPMAP]  
COSMICTAL2 [Somatic mutation (COSMIC-CGP-Sanger)]  
HGMDTAL2
General knowledge
Family BrowserTAL2 [UCSC Family Browser]
SOURCENM_005421
SMDHs.247978
SAGEHs.247978
GODNA binding [Amigo]  DNA binding
GOprotein binding [Amigo]  protein binding
GOnucleus [Amigo]  nucleus
GOregulation of transcription, DNA-dependent [Amigo]  regulation of transcription, DNA-dependent
GOtranscription regulator activity [Amigo]  transcription regulator activity
PubGeneTAL2
TreeFamTAL2
CTD6887 [Comparative ToxicoGenomics Database]
Other databases
Probes
ProbeTAL2 Related clones (RZPD - Berlin)
PubMed
PubMed8 Pubmed reference(s) in LocusLink

Bibliography

Consistent breakage between consensus recombinase heptamers of chromosome 9 DNA in a recurrent chromosomal translocation of human T cell leukemia.
Tycko B, Reynolds TC, Smith SD, Sklar J
The Journal of experimental medicine. 1989 ; 169 (2) : 369-377.
PMID 2536065
 
TAL2, a helix-loop-helix gene activated by the (7;9)(q34;q32) translocation in human T-cell leukemia.
Xia Y, Brown L, Yang CY, Tsan JT, Siciliano MJ, Espinosa R III, Le Beau MM, Baer RJ
Proceedings of the National Academy of Sciences of the United States of America. 1991 ; 88 (24) : 11416-11420.
PMID 1763056
 
TAL1, TAL2 and LYL1: a family of basic helix-loop-helix proteins implicated in T cell acute leukaemia.
Baer R
Seminars in cancer biology. 1993 ; 4 (6) : 341-347.
PMID 8142619
 
Products of the TAL2 oncogene in leukemic T cells: bHLH phosphoproteins with DNA-binding activity.
Xia Y, Hwang LY, Cobb MH, Baer R
Oncogene. 1994 ; 9 (5) : 1437-1446.
PMID 8152805
 
The leukemic oncogene tal-2 is expressed in the developing mouse brain.
Mori S, Sugawara S, Kikuchi T, Tanji M, Narumi O, Stoykova A, Nishikawa SI, Yokota Y
Brain research. Molecular brain research. 1999 ; 64 (2) : 199-210.
PMID 9931488
 
The T cell oncogene Tal2 is necessary for normal development of the mouse brain.
Bucher K, Sofroniew MV, Pannell R, Impey H, Smith AJ, Torres EM, Dunnett SB, Jin Y, Baer R, Rabbitts TH
Developmental biology. 2000 ; 227 (2) : 533-544.
PMID 11071772
 
V(D)J-mediated translocations in lymphoid neoplasms: a functional assessment of genomic instability by cryptic sites.
Marculescu R, Le T, Simon P, Jaeger U, Nadel B
The Journal of experimental medicine. 2002 ; 195 (1) : 85-98.
PMID 11781368
 
Distinct t(7;9)(q34;q32) breakpoints in healthy individuals and individuals with T-ALL.
Marculescu R, Vanura K, Le T, Simon P, Jˆ§ger U, Nadel B
Nature genetics. 2003 ; 33 (3) : 342-344.
PMID 12567187
 
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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Contributor(s)

Written08-2005Katrina Vanura
Medical University of Vienna, Dept. of Medicine I, Div. of Hematology, Waehringer Guertel 18-20, A - 1090 Vienna, Austria

Citation

This paper should be referenced as such :
Vanura K . TAL2 (T-cell acute lymphoblastic leukemia 2). Atlas Genet Cytogenet Oncol Haematol. August 2005 .
URL : http://AtlasGeneticsOncology.org/Genes/TAL2ID28ch9q31.html

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Mon Aug 11 21:17:50 2008


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