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TLX3 (T-cell leukemia, homeobox protein 3)

Identity

Other namesRNX
HOX11L2
HGNC (Hugo) TLX3
LocusID (NCBI) 30012
Location 5q35.1
Location_base_pair Starts at 170736288 and ends at 170739138 bp from pter ( according to hg19-Feb_2009)  [Mapping]
 
  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.

Other Leukemias implicated (Data extracted from papers in the Atlas)

Leukemias 11q23ChildAMLID1615 11q23ID1030 11q23secondLeukID1131 t1119ELLID1029 t0812q24q22ID2057

External links

Nomenclature
HGNC (Hugo)TLX3   13532
Cards
AtlasTLX3ID398
Entrez_Gene (NCBI)TLX3  30012  T-cell leukemia homeobox 3
GeneCards (Weizmann)TLX3
Ensembl (Hinxton)ENSG00000164438 [Gene_View]  chr5:170736288-170739138 [Contig_View]  TLX3 [Vega]
ICGC DataPortalENSG00000164438
cBioPortalTLX3
AceView (NCBI)TLX3
Genatlas (Paris)TLX3
WikiGenes30012
SOURCE (Princeton)NM_021025
Genomic and cartography
GoldenPath (UCSC)TLX3  -  5q35.1   chr5:170736288-170739138 +  5q35.1   [Description]    (hg19-Feb_2009)
EnsemblTLX3 - 5q35.1 [CytoView]
Mapping of homologs : NCBITLX3 [Mapview]
OMIM604640   
Gene and transcription
Genbank (Entrez)BC017291 DQ892654 DQ895893 DQ896085
RefSeq transcript (Entrez)NM_021025
RefSeq genomic (Entrez)AC_000137 NC_000005 NC_018916 NT_023133 NW_001838954 NW_004929325
Consensus coding sequences : CCDS (NCBI)TLX3
Cluster EST : UnigeneHs.249125 [ NCBI ]
CGAP (NCI)Hs.249125
Alternative Splicing : Fast-db (Paris)GSHG0024461
Alternative Splicing GalleryENSG00000164438
Gene ExpressionTLX3 [ NCBI-GEO ]     TLX3 [ SEEK ]   TLX3 [ MEM ]
Protein : pattern, domain, 3D structure
UniProt/SwissProtO43711 (Uniprot)
NextProtO43711  [Medical]
With graphics : InterProO43711
Splice isoforms : SwissVarO43711 (Swissvar)
Domaine pattern : Prosite (Expaxy)HOMEOBOX_1 (PS00027)    HOMEOBOX_2 (PS50071)   
Domains : Interpro (EBI)Homeobox_CS [organisation]   Homeobox_dom [organisation]   Homeobox_metazoa [organisation]   Homeodomain-like [organisation]  
Related proteins : CluSTrO43711
Domain families : Pfam (Sanger)Homeobox (PF00046)   
Domain families : Pfam (NCBI)pfam00046   
Domain families : Smart (EMBL)HOX (SM00389)  
DMDM Disease mutations30012
Blocks (Seattle)O43711
Human Protein AtlasENSG00000164438 [gene] [tissue] [antibody] [cell] [cancer]
Peptide AtlasO43711
HPRD06868
IPIIPI00306869   
Protein Interaction databases
DIP (DOE-UCLA)O43711
IntAct (EBI)O43711
FunCoupENSG00000164438
BioGRIDTLX3
InParanoidO43711
Interologous Interaction database O43711
IntegromeDBTLX3
STRING (EMBL)TLX3
Ontologies - Pathways
Ontology : AmiGOneuron migration  regulation of respiratory gaseous exchange by neurological system process  sequence-specific DNA binding transcription factor activity  protein binding  nucleus  regulation of transcription, DNA-templated  central nervous system development  respiratory gaseous exchange  sequence-specific DNA binding  negative regulation of neuron differentiation  neuron fate specification  
Ontology : EGO-EBIneuron migration  regulation of respiratory gaseous exchange by neurological system process  sequence-specific DNA binding transcription factor activity  protein binding  nucleus  regulation of transcription, DNA-templated  central nervous system development  respiratory gaseous exchange  sequence-specific DNA binding  negative regulation of neuron differentiation  neuron fate specification  
Pathways : KEGGTranscriptional misregulation in cancer   
Protein Interaction DatabaseTLX3
Wikipedia pathwaysTLX3
Gene fusion - rearrangments
Polymorphisms : SNP, mutations, diseases
SNP Single Nucleotide Polymorphism (NCBI)TLX3
snp3D : Map Gene to Disease30012
SNP (GeneSNP Utah)TLX3
SNP : HGBaseTLX3
Genetic variants : HAPMAPTLX3
Exome VariantTLX3
1000_GenomesTLX3 
ICGC programENSG00000164438 
Cancer Gene: CensusTLX3 
Somatic Mutations in Cancer : COSMICTLX3 
CONAN: Copy Number AnalysisTLX3 
Mutations and Diseases : HGMDTLX3
Genomic VariantsTLX3  TLX3 [DGVbeta]
dbVarTLX3
ClinVarTLX3
Pred. of missensesPolyPhen-2  SIFT(SG)  SIFT(JCVI)  Align-GVGD  MutAssessor  Mutanalyser  
Pred. splicesGeneSplicer  Human Splicing Finder  MaxEntScan  
Diseases
OMIM604640   
MedgenTLX3
GENETestsTLX3
Disease Genetic AssociationTLX3
Huge Navigator TLX3 [HugePedia]  TLX3 [HugeCancerGEM]
General knowledge
Homologs : HomoloGeneTLX3
Homology/Alignments : Family Browser (UCSC)TLX3
Phylogenetic Trees/Animal Genes : TreeFamTLX3
Chemical/Protein Interactions : CTD30012
Chemical/Pharm GKB GenePA37797
Clinical trialTLX3
Cancer Resource (Charite)ENSG00000164438
Other databases
Probes
Litterature
PubMed29 Pubmed reference(s) in Entrez
CoreMineTLX3
iHOPTLX3
OncoSearchTLX3

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, Rˆsen-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. 2004;8(2):69-71.
Free online version   Free pdf version   [Bibliographic record ]
URL : http://AtlasGeneticsOncology.org/Genes/TLX3ID398.html

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indexed on : Fri Aug 8 11:02:07 CEST 2014

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