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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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TLX3
T cell leukemia homeobox 3
Chromosome 5 · 5q35.1
NCBI Gene: 30012Ensembl: ENSG00000164438.6HGNC: HGNC:13532UniProt: O43711
43PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingnucleoplasmsequence-specific double-stranded DNA bindingDNA-binding transcription factor activity, RNA polymerase II-specificneurodegenerative diseasecolorectal adenocarcinomagastric carcinomahepatocellular carcinoma
✦AI Summary

TLX3 (T cell leukemia homeobox 3) is a homeobox transcription factor that plays a critical oncogenic role in T-cell acute lymphoblastic leukemia (T-ALL). TLX3 functions as a sequence-specific DNA-binding transcription factor that regulates gene expression in the nucleus and chr5 1. In normal development, TLX3 is involved in T-cell differentiation, but its ectopic expression in approximately 12-20% of T-ALL cases causes differentiation arrest at the cortical/postcortical stage of T-cell development 23. Mechanistically, TLX3 exerts its oncogenic effects through multiple pathways: it directly activates miR-125b expression by binding and transactivating LINC00478, which promotes T-cell transformation and blocks normal differentiation partly through repression of Ets1 and CBFβ 4. TLX3 also directly represses TLE4, a transcriptional repressor, which enhances its oncogenic function 5. TLX3-positive T-ALL frequently cooperates with FLT3-ITD mutations, particularly in pediatric cases, and this combination confers IL-7 independent growth 53. Despite its clear biological significance, TLX3 expression does not appear to be a significant prognostic indicator in pediatric T-ALL 6. TLX3 can also be activated through chr5 rearrangements like TLX3::BCL11B in rare mixed phenotype acute leukemias 7.

Sources cited
1
TLX3 is a transcription factor involved in cortical T-ALL and affects thymocyte development
PMID: 34440292
2
TLX3 high expression corresponds to cortical/postcortical stage of T-cell development in T-ALL subtypes
PMID: 35385357
3
TLX3 is found in 12% of T-ALL cases and is associated with CD135 expression
PMID: 26852660
4
TLX3 expression is not a significant prognostic indicator in pediatric T-ALL
PMID: 24997618
5
TLX3 directly activates miR-125b through LINC00478 binding and promotes T-cell transformation
PMID: 29296717
6
TLX3 cooperates with FLT3-ITD mutations and directly represses TLE4 expression
PMID: 39838044
7
TLX3 can be activated through TLX3::BCL11B rearrangements in mixed phenotype acute leukemia
PMID: 38385580
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.40Moderate
colorectal adenocarcinomaOpen Targets
0.37Weak
gastric carcinomaOpen Targets
0.37Weak
hepatocellular carcinomaOpen Targets
0.30Weak
T-cell acute lymphoblastic leukemiaOpen Targets
0.28Weak
urinary bladder carcinomaOpen Targets
0.28Weak
lung adenocarcinomaOpen Targets
0.28Weak
acute myeloid leukemiaOpen Targets
0.28Weak
bladder transitional cell carcinomaOpen Targets
0.28Weak
brain glioblastomaOpen Targets
0.28Weak
breast ductal adenocarcinomaOpen Targets
0.28Weak
carcinoma of liver and intrahepatic biliary tractOpen Targets
0.28Weak
colon adenocarcinomaOpen Targets
0.28Weak
Endometrial Endometrioid AdenocarcinomaOpen Targets
0.28Weak
gastric adenocarcinomaOpen Targets
0.28Weak
Hepatobiliary NeoplasmOpen Targets
0.28Weak
melanomaOpen Targets
0.28Weak
pancreatic ductal adenocarcinomaOpen Targets
0.28Weak
rectal adenocarcinomaOpen Targets
0.28Weak
skin basal cell carcinomaOpen Targets
0.28Weak
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
TLX2Shared pathway100%TIGD5Shared pathway100%PHF6Protein interaction90%LMO1Protein interaction85%NUP214Protein interaction85%RANBP17Protein interaction80%
Tissue Expression6 tissues
Brain
100%
Ovary
0%
Heart
0%
Lung
0%
Liver
0%
Bone Marrow
0%
Gene Interaction Network
Click a node to explore
TLX3TLX2TIGD5PHF6LMO1NUP214RANBP17
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt O43711
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.00LoF Tolerant
pLIⓘ
0.01Tolerant
Observed/Expected LoF0.61 [0.38–1.00]
RankingsWhere TLX3 stands among ~20K protein-coding genes
  • #9,807of 20,598
    Most Researched43
  • #9,731of 17,882
    Most Constrained (LOEUF)1.00
Genes detectedTLX3
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
T-Cell Acute Lymphoblastic Leukemia: Biomarkers and Their Clinical Usefulness.
PMID: 34440292
Genes (Basel) · 2021
1.00
2
TLE4 is a repressor of the oncogenic activity of TLX3 in T-cell acute lymphoblastic leukemia.
PMID: 39838044
Leukemia · 2025
0.90
3
Transcriptome-wide subtyping of pediatric and adult T cell acute lymphoblastic leukemia in an international study of 707 cases.
PMID: 35385357
Proc Natl Acad Sci U S A · 2022
0.80
4
Immunophenotyping with CD135 and CD117 predicts the FLT3, IL-7R and TLX3 gene mutations in childhood T-cell acute leukemia.
PMID: 26852660
Blood Cells Mol Dis · 2016
0.70
5
The effect of TLX3 expression on the prognosis of pediatric T cell acute lymphocytic leukemia--a systematic review.
PMID: 24997618
Tumour Biol · 2014
0.60