Atlas of Genetics and Cytogenetics in Oncology and Haematology


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TLX3 (T-cell leukemia, homeobox protein 3)

Identity

Other namesRNX
HOX11L2
HGNC TLX3
Location 5q35.1
 
  TLX3 (5q35.1): FISH with BAC clone ctb-45L16 (red) showing a breakpoint signal in the consensus breakpoint region split between der(5) and der(14) partners. Analysis was performed on the pediatric T-ALL cell line HPB-ALL (DSMZ ACC-483) which carries t(5;14)(q35.1;q32.2) as part of a complex 4-way rearrangement involving chromosomes 1 and 16. Normally (in the absence of secondary translocations) the breakpoints on both partners lie closely equidistant to the q-arm telomeres rendering the translocation cryptic and difficult to detect even with chromosome painting.

DNA/RNA

 
Description 3 exons on 2.23 kb
Transcription In a centromeric --> telomeric orientation; 876 bp mRNA (coding)

Protein

 
Description 291 amino acids, 31.8 kDa; contains one homeobox domain (residues 166-221)
Expression Narrowly restricted to brain.
Localisation Probably nuclear
Function Murine Tlx-3 and Tlx-1 together sustain expression of Drg-11, and control development of somatic and visceral relay sensory neurons.
Homology With homeobox genes, especially with those of the NK-like family.

Implicated in

Entity t(5;14)(q35;q32) in T-ALL-->TLX3 - BCL11B
Disease T-cell acute lymphocytic leukemia (T-ALL)
Prognosis TLX3 expression may denote poor prognosis.
Cytogenetics Cryptic translocation detectable by locus specific FISH. t(5;14) may exclude del(1)(p32) SIL-TAL1 fusion.
Hybrid/Mutated Gene 5' TLX3-3' BCL11B on der(14).
Oncogenesis Ectopic expression in T-cells
  
Entity t(5;14)(q35;q11) in T-ALL --> TLX3 - TCRD
Disease T-cell acute lymphocytic leukemia (T-ALL)
Cytogenetics Apparent variant of t(5;14)
Hybrid/Mutated Gene 5' TLX3-TCRD on der(14)
  

Breakpoints

 
 
Note Within the upstream region or within the neighboring gene RanBP17.

External links

Nomenclature
HGNCTLX3   13532
Entrez_GeneTLX3  30012  T-cell leukemia homeobox 3
Cards
AtlasTLX3ID398
GeneCardsTLX3
EnsemblTLX3 [Search_View]   ENSG00000164438 [Gene_View]
GenatlasTLX3
GeneLynxTLX3
eGenomeTLX3
euGene30012
Genomic and cartography
GoldenPathTLX3  -  5q35.1   chr5:170668893-170671743 +  5q35.1   [Description]    (hg18-Mar_2006)
EnsemblTLX3 - 5q35.1 [CytoView]
NCBIMapview
OMIMDisease map [OMIM]
HomoloGeneTLX3
Gene and transcription
GenbankBC017291 [ ENTREZ ]
GenbankDQ892654 [ ENTREZ ]
GenbankDQ895893 [ ENTREZ ]
GenbankDQ896085 [ ENTREZ ]
RefSeqNM_021025 [ SRS ]    NM_021025 [ ENTREZ ]
RefSeqAC_000048 [ SRS ]    AC_000048 [ ENTREZ ]
RefSeqAC_000137 [ SRS ]    AC_000137 [ ENTREZ ]
RefSeqNC_000005 [ SRS ]    NC_000005 [ ENTREZ ]
RefSeqNT_023133 [ SRS ]    NT_023133 [ ENTREZ ]
RefSeqNW_001838954 [ SRS ]    NW_001838954 [ ENTREZ ]
RefSeqNW_922784 [ SRS ]    NW_922784 [ ENTREZ ]
AceViewTLX3 AceView - NCBI
UnigeneHs.249125 [ SRS ]    Hs.249125 [ NCBI ]     HS249125 [ spliceNest ]
Fast-db12997 (alternative variants)
Protein : pattern, domain, 3D structure
SwissProtO43711 [ SRS]    O43711 [ EXPASY ]     O43711 [ INTERPRO ]     O43711 [ UNIPROT ]
PrositePS00027 HOMEOBOX_1 [ SRS ]    PS00027 HOMEOBOX_1 [ Expasy ]
PrositePS50071 HOMEOBOX_2 [ SRS ]    PS50071 HOMEOBOX_2 [ Expasy ]
InterproIPR001356 Homeobox [ SRS ]    IPR001356 Homeobox [ EBI ]
InterproIPR012287 Homeodomain-rel [ SRS ]    IPR012287 Homeodomain-rel [ EBI ]
CluSTrO43711
PfamPF00046 Homeobox [ SRS ]    PF00046 Homeobox [ Sanger ]    pfam00046 [ NCBI-CDD ]
SmartSM00389 HOX [EMBL]
ProdomPD000010 Homeobox[INRA-Toulouse]
ProdomO43711 TLX3_HUMAN [ Domain structure ]   O43711 TLX3_HUMAN  [ sequences sharing at least 1 domain ]
BlocksO43711
HPRD06868
Protein Interaction databases
DIPO43711
IntActO43711
Polymorphism : SNP, mutations, diseases
OMIM604640    [ map ]   
GENECLINICS604640
SNPTLX3 [dbSNP-NCBI]  
SNPNM_021025 [SNP-NCI]  
SNPTLX3 [GeneSNPs - Utah]  TLX3] [HGBASE - SRS]
HAPMAPTLX3 [HAPMAP]  
COSMICTLX3 [Somatic mutation (COSMIC-CGP-Sanger)]  
HGMDTLX3
General knowledge
Family BrowserTLX3 [UCSC Family Browser]
SOURCENM_021025
SMDHs.249125
SAGEHs.249125
GOneuron migration [Amigo]  neuron migration
GOtranscription factor activity [Amigo]  transcription factor activity
GOprotein binding [Amigo]  protein binding
GOnucleus [Amigo]  nucleus
GOregulation of transcription, DNA-dependent [Amigo]  regulation of transcription, DNA-dependent
GOmulticellular organismal development [Amigo]  multicellular organismal development
GOcentral nervous system development [Amigo]  central nervous system development
GOrespiratory gaseous exchange [Amigo]  respiratory gaseous exchange
GOsequence-specific DNA binding [Amigo]  sequence-specific DNA binding
GOnegative regulation of neuron differentiation [Amigo]  negative regulation of neuron differentiation
GOneuron fate specification [Amigo]  neuron fate specification
PubGeneTLX3
TreeFamTLX3
CTD30012 [Comparative ToxicoGenomics Database]
Other databases
Probes
ProbeTLX3 Related clones (RZPD - Berlin)
PubMed
PubMed19 Pubmed reference(s) in LocusLink

Bibliography

Assignment of the HOX11L2 gene to human chromosome band 5q35.1 and of its murine homolog to mouse chromosome bands 11A4-A5 by in situ hybridization.
Cinti R, Fava M, Sancandi M, Matera I, Ravazzolo R, Ceccherini I
Cytogenetics and cell genetics. 2001 ; 92 (3-4) : 354-355.
PMID 11435716
 
Assignment of the human homeobox 11-like 2 gene (HOX11L2) to chromosome 5q34-->q35 by radiation hybrid mapping.
Lee-Kirsch MA, Engel K, Paditz E, Rˆsen-Wolff A, Lee YA, Gahr M
Cytogenetics and cell genetics. 2001 ; 92 (3-4) : page 358.
PMID 11435718
 
A new recurrent and specific cryptic translocation, t(5;14)(q35;q32), is associated with expression of the Hox11L2 gene in T acute lymphoblastic leukemia.
Bernard OA, Busson-LeConiat M, Ballerini P, Mauchauffˆ© M, Della Valle V, Monni R, Nguyen Khac F, Mercher T, Penard-Lacronique V, Pasturaud P, Gressin L, Heilig R, Daniel MT, Lessard M, Berger R
Leukemia : official journal of the Leukemia Society of America, Leukemia Research Fund, U.K. 2001 ; 15 (10) : 1495-1504.
PMID 11587205
 
Gene expression signatures define novel oncogenic pathways in T cell acute lymphoblastic leukemia.
Ferrando AA, Neuberg DS, Staunton J, Loh ML, Huard C, Raimondi SC, Behm FG, Pui CH, Downing JR, Gilliland DG, Lander ES, Golub TR, Look AT
Cancer cell. 2002 ; 1 (1) : 75-87.
PMID 12086890
 
HOX11L2 expression defines a clinical subtype of pediatric T-ALL associated with poor prognosis.
Ballerini P, Blaise A, Busson-Le Coniat M, Su XY, Zucman-Rossi J, Adam M, van den Akker J, Perot C, Pellegrino B, Landman-Parker J, Douay L, Berger R, Bernard OA
Blood. 2002 ; 100 (3) : 991-997.
PMID 12130513
 
Disruption of the RanBP17/Hox11L2 region by recombination with the TCRdelta locus in acute lymphoblastic leukemias with t(5;14)(q34;q11).
Hansen-Hagge TE, Schˆ§fer M, Kiyoi H, Morris SW, Whitlock JA, Koch P, Bohlmann I, Mahotka C, Bartram CR, Janssen JW
Leukemia : official journal of the Leukemia Society of America, Leukemia Research Fund, U.K. 2002 ; 16 (11) : 2205-2212.
PMID 12399963
 
High incidence of Hox11L2 expression in children with T-ALL.
Mauvieux L, Leymarie V, Helias C, Perrusson N, Falkenrodt A, Lioure B, Lutz P, Lessard M
Leukemia : official journal of the Leukemia Society of America, Leukemia Research Fund, U.K. 2002 ; 16 (12) : 2417-2422.
PMID 12454747
 
Activation of HOX11L2 by juxtaposition with 3'-BCL11B in an acute lymphoblastic leukemia cell line (HPB-ALL) with t(5;14)(q35;q32.2).
MacLeod RA, Nagel S, Kaufmann M, Janssen JW, Drexler HG
Genes, chromosomes & cancer. 2003 ; 37 (1) : 84-91.
PMID 12661009
 
t(5;14)/HOX11L2-positive T-cell acute lymphoblastic leukemia. A collaborative study of the Groupe Franˆßais de Cytogˆ©nˆ©tique Hˆ©matologique (GFCH).
Berger R, Dastugue N, Busson M, Van Den Akker J, Pˆ©rot C, Ballerini P, Hagemeijer A, Michaux L, Charrin C, Pages MP, Mugneret F, Andrieux J, Talmant P, Hˆ©lias C, Mauvieux L, Lafage-Pochitaloff M, Mozziconacci MJ, Cornillet-Lefebvre P, Radford I, Asnafi V, Bilhou-Nabera C, Nguyen Khac F, Lˆ©onard C, Speleman F, Poppe B, Bastard C, Taviaux S, Quilichini B, Herens C, Grˆ©goire MJ, Cavˆ© H, Groupe Franˆßais de Cytogˆ©nˆ©tique Hˆ©matologique (GFCH), Bernard OA
Leukemia : official journal of the Leukemia Society of America, Leukemia Research Fund, U.K. 2003 ; 17 (9) : 1851-1857.
PMID 12970786
 
The cardiac homeobox gene NKX2-5 is deregulated by juxtaposition with BCL11B in pediatric T-ALL cell lines via a novel t(5;14)(q35.1;q32.2).
Nagel S, Kaufmann M, Drexler HG, MacLeod RA
Cancer research. 2003 ; 63 (17) : 5329-5334.
PMID 14500364
 
Clinical significance of HOX11L2 expression linked to t(5;14)(q35;q32), of HOX11 expression, and of SIL-TAL fusion in childhood T-cell malignancies: results of EORTC studies 58881 and 58951.
Cavˆ© H, Suciu S, Preudhomme C, Poppe B, Robert A, Uyttebroeck A, Malet M, Boutard P, Benoit Y, Mauvieux L, Lutz P, Mˆ©chinaud F, Grardel N, Mazingue F, Dupont M, Margueritte G, Pages MP, Bertrand Y, Plouvier E, Brunie G, Bastard C, Plantaz D, Vande Velde I, Hagemeijer A, Speleman F, Lessard M, Otten J, Vilmer E, EORTC-CLG, Dastugue N
Blood. 2004 ; 103 (2) : 442-450.
PMID 14504110
 
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Contributor(s)

Written03-2004Roderick AF MacLeod, Stefan Nagel

Citation

This paper should be referenced as such :
MacLeod RAF, Nagel S . TLX3 (T-cell leukemia, homeobox protein 3). Atlas Genet Cytogenet Oncol Haematol. March 2004 .
URL : http://AtlasGeneticsOncology.org/Genes/TLX3ID398.html

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Mon Aug 11 21:18:07 2008


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