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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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TLX1
T cell leukemia homeobox 1
Chromosome 10 · 10q24.31
NCBI Gene: 3195Ensembl: ENSG00000107807.13HGNC: HGNC:5056UniProt: P31314
50PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Oncogene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingDNA-binding transcription factor activity, RNA polymerase II-specificregulation of transcription by RNA polymerase IIanimal organ developmentneurodegenerative diseasecolorectal adenocarcinomagastric carcinomabile duct carcinoma
✦AI Summary

TLX1 (T cell leukemia homeobox 1) is a transcription factor that plays critical roles in both normal development and leukemogenesis. In normal development, TLX1 controls spleen genesis and is involved in placental trophoblast differentiation, where decreased expression during late gestation promotes proper placental function 1. As a DNA-binding transcription factor, TLX1 binds specific DNA sequences and regulates gene expression through cooperative enhancer activation 2. In T-cell acute lymphoblastic leukemia (T-ALL), TLX1 aberrant expression is associated with cortical T-ALL phenotype and represents a major oncogenic driver 3. TLX1 cooperates with STAT5 to co-bind poised enhancer regions and activate proto-oncogenes including MYC and BCL2, promoting leukemia development 2. The gene is frequently activated by chr10 translocations involving T-cell receptor loci at the 10q24 breakpoint cluster region 4. Transcriptomic analysis reveals TLX1-high expression defines specific T-ALL subtypes corresponding to cortical/postcortical T-cell development stages 5. Clinically, TLX1 expression correlates with specific mutation patterns including PTPN2 mutations in T-ALL 6, and genetic polymorphisms in TLX1 are associated with childhood ALL risk 7. Beyond hematologic malignancies, high TLX1 expression correlates with poor prognosis in lung adenocarcinoma 8.

Sources cited
1
TLX1 controls spleen genesis and is involved in placental trophoblast differentiation
PMID: 28674422
2
TLX1 cooperates with STAT5 to activate proto-oncogenes MYC and BCL2 through enhancer co-binding
PMID: 30107177
3
TLX1 aberrant expression is associated with cortical T-ALL phenotype
PMID: 34440292
4
TLX1 is activated by chromosomal translocations at 10q24 breakpoint cluster region
PMID: 17303350
5
TLX1-high expression defines T-ALL subtypes corresponding to cortical/postcortical development stages
PMID: 35385357
6
PTPN2 mutations are associated with TLX1 deregulated T-ALL
PMID: 28671688
7
TLX1 genetic polymorphisms are associated with childhood ALL risk
PMID: 32488880
8
High TLX1 expression correlates with poor prognosis in lung adenocarcinoma
PMID: 37340746
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.48Moderate
colorectal adenocarcinomaOpen Targets
0.38Weak
bile duct carcinomaOpen Targets
0.37Weak
gastric carcinomaOpen Targets
0.37Weak
esophageal adenocarcinomaOpen Targets
0.29Weak
urinary bladder carcinomaOpen Targets
0.29Weak
breast carcinomaOpen Targets
0.28Weak
lung adenocarcinomaOpen Targets
0.28Weak
prostate adenocarcinomaOpen Targets
0.28Weak
diffuse large B-cell lymphomaOpen Targets
0.28Weak
esophageal squamous cell carcinomaOpen Targets
0.28Weak
bladder transitional cell carcinomaOpen Targets
0.28Weak
colon adenocarcinomaOpen Targets
0.28Weak
Endometrial Endometrioid AdenocarcinomaOpen Targets
0.28Weak
squamous cell lung carcinomaOpen Targets
0.28Weak
pancreatic ductal adenocarcinomaOpen Targets
0.28Weak
breast ductal adenocarcinomaOpen Targets
0.28Weak
kidney neoplasmOpen Targets
0.28Weak
nodular melanomaOpen Targets
0.28Weak
rectal adenocarcinomaOpen Targets
0.28Weak
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
TIGD5Shared pathway100%TLX2Shared pathway100%TAL1Protein interaction100%LYL1Protein interaction100%PAX2Protein interaction95%EYA1Protein interaction95%
Tissue Expression6 tissues
Liver
100%
Heart
23%
Brain
3%
Bone Marrow
1%
Ovary
1%
Lung
0%
Gene Interaction Network
Click a node to explore
TLX1TIGD5TLX2TAL1LYL1PAX2EYA1
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt P31314
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.50Moderately Constrained
pLIⓘ
0.98Intolerant
Observed/Expected LoF0.26 [0.14–0.50]
RankingsWhere TLX1 stands among ~20K protein-coding genes
  • #8,887of 20,598
    Most Researched50
  • #3,049of 17,882
    Most Constrained (LOEUF)0.50 · top quartile
Genes detectedTLX1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
The genomic landscape of pediatric and young adult T-lineage acute lymphoblastic leukemia.
PMID: 28671688
Nat Genet · 2017
1.00
2
T-Cell Acute Lymphoblastic Leukemia: Biomarkers and Their Clinical Usefulness.
PMID: 34440292
Genes (Basel) · 2021
0.90
3
Association of TLX1 gene polymorphisms with the risk of acute lymphoblastic leukemia and B lineage acute lymphoblastic leukemia in Han Chinese children.
PMID: 32488880
J Clin Lab Anal · 2020
0.80
4
Cooperative Enhancer Activation by TLX1 and STAT5 Drives Development of NUP214-ABL1/TLX1-Positive T Cell Acute Lymphoblastic Leukemia.
PMID: 30107177
Cancer Cell · 2018
0.70
5
Increased methylation and decreased expression of homeobox genes TLX1, HOXA10 and DLX5 in human placenta are associated with trophoblast differentiation.
PMID: 28674422
Sci Rep · 2017
0.60