TLX3 (T-cell leukemia, homeobox protein 3)

2004-03-01   Roderick AF MacLeod  , Stefan Nagel  

DSMZ-Deutsche Sammlung von, Mikroorganismen und Zellkulturen, Inhoffenstr. 7B, D-38124 Braunschweig, Germany

Identity

HGNC
LOCATION
5q35.1
IMAGE
Atlas Image
LEGEND
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.
LOCUSID
ALIAS
HOX11L2,RNX
FUSION GENES

DNA/RNA

Atlas Image

Description

3 exons on 2.23 kb

Transcription

In a centromeric --> telomeric orientation; 876 bp mRNA (coding)

Proteins

Atlas Image

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 name
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 gene
5 TLX3-3 BCL11B on der(14).
Oncogenesis
Ectopic expression in T-cells
Entity name
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 gene
5 TLX3-TCRD on der(14)

Breakpoints

Atlas Image
Atlas Image

Note

Within the upstream region or within the neighboring gene RanBP17.

Article Bibliography

Pubmed IDLast YearTitleAuthors
121305132002HOX11L2 expression defines a clinical subtype of pediatric T-ALL associated with poor prognosis.Ballerini P et al
129707862003t(5;14)/HOX11L2-positive T-cell acute lymphoblastic leukemia. A collaborative study of the Groupe Français de Cytogénétique Hématologique (GFCH).Berger R et al
115872052001A 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 et al
145041102004Clinical 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.Cavé H et al
114357162001Assignment 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 et al
120868902002Gene expression signatures define novel oncogenic pathways in T cell acute lymphoblastic leukemia.Ferrando AA et al
123999632002Disruption of the RanBP17/Hox11L2 region by recombination with the TCRdelta locus in acute lymphoblastic leukemias with t(5;14)(q34;q11).Hansen-Hagge TE et al
114357182001Assignment of the human homeobox 11-like 2 gene (HOX11L2) to chromosome 5q34-->q35 by radiation hybrid mapping.Lee-Kirsch MA et al
126610092003Activation 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 et al
124547472002High incidence of Hox11L2 expression in children with T-ALL.Mauvieux L et al
145003642003The 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 et al

Other Information

Locus ID:

NCBI: 30012
MIM: 604640
HGNC: 13532
Ensembl: ENSG00000164438

Variants:

dbSNP: 30012
ClinVar: 30012
TCGA: ENSG00000164438
COSMIC: TLX3

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000164438ENST00000296921O43711

Expression (GTEx)

0
5
10
15
20
25
30
35
40
45
50

Pathways

PathwaySourceExternal ID
Transcriptional misregulation in cancerKEGGko05202
Transcriptional misregulation in cancerKEGGhsa05202

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
245711182016NKX2-5, SIL/TAL and TLX3/HOX11L2 expression in Egyptian pediatric T-cell acute lymphoblastic leukemia.2
268526602016Immunophenotyping with CD135 and CD117 predicts the FLT3, IL-7R and TLX3 gene mutations in childhood T-cell acute leukemia.3
245711182016NKX2-5, SIL/TAL and TLX3/HOX11L2 expression in Egyptian pediatric T-cell acute lymphoblastic leukemia.2
268526602016Immunophenotyping with CD135 and CD117 predicts the FLT3, IL-7R and TLX3 gene mutations in childhood T-cell acute leukemia.3
249976182015AMBRA1 and BECLIN 1 interplay in the crosstalk between autophagy and cell proliferation.0
249976182015AMBRA1 and BECLIN 1 interplay in the crosstalk between autophagy and cell proliferation.0
223669492012Reverse engineering of TLX oncogenic transcriptional networks identifies RUNX1 as tumor suppressor in T-ALL.80
225162632012TLX homeodomain oncogenes mediate T cell maturation arrest in T-ALL via interaction with ETS1 and suppression of TCRα gene expression.50
223669492012Reverse engineering of TLX oncogenic transcriptional networks identifies RUNX1 as tumor suppressor in T-ALL.80
225162632012TLX homeodomain oncogenes mediate T cell maturation arrest in T-ALL via interaction with ETS1 and suppression of TCRα gene expression.50
212259302011Successful treatment of a child with T/myeloid acute bilineal leukemia associated with TLX3/BCL11B fusion and 9q deletion.9
213747612011Wnt signaling promotes neuronal differentiation from mesenchymal stem cells through activation of Tlx3.44
216178532011Aberrant DNA methylation of T-cell leukemia, homeobox 3 modulates cisplatin sensitivity in bladder cancer.12
212259302011Successful treatment of a child with T/myeloid acute bilineal leukemia associated with TLX3/BCL11B fusion and 9q deletion.9
213747612011Wnt signaling promotes neuronal differentiation from mesenchymal stem cells through activation of Tlx3.44

Citation

Roderick AF MacLeod ; Stefan Nagel

TLX3 (T-cell leukemia, homeobox protein 3)

Atlas Genet Cytogenet Oncol Haematol. 2004-03-01

Online version: http://atlasgeneticsoncology.org/gene/398/tlx3-(t-cell-leukemia-homeobox-protein-3)