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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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TLX2
T cell leukemia homeobox 2
Chromosome 2 · 2p13.1
NCBI Gene: 3196Ensembl: ENSG00000115297.11HGNC: HGNC:5057UniProt: O43763
21PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Transcription Factor
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
positive regulation of transcription by RNA polymerase IIDNA-binding transcription activator activity, RNA polymerase II-specificprotein bindingsequence-specific DNA bindingneoplasmHirschsprung diseasecancerlactose intolerance adult type
✦AI Summary

TLX2 (T cell leukemia homeobox 2) is a transcription factor that plays a critical role in neural crest-derived cell development, particularly in the enteric nervous system 1. As a homeodomain-containing protein, TLX2 functions as a transcriptional activator by binding to specific DNA consensus sequences 2. The gene is regulated by PHOX2A and PHOX2B transcription factors, which bind to its 5'-flanking region and enhance its expression in neural cell types 31. TLX2 is essential for proper enteric nervous system development and gastrointestinal motility, as demonstrated by mouse models showing intestinal hyperganglionosis and pseudo-obstruction when disrupted 3. In cancer contexts, TLX2 exhibits aberrant expression patterns across multiple tumor types and serves as a prognostic biomarker 45. Hypermethylation of TLX2 has been identified as a high-yield marker for colorectal cancer detection in stool samples, achieving 82.5-92.5% sensitivity with 88.0-96.4% specificity 5. The gene also appears in prognostic signatures for uterine sarcoma 6 and is differentially expressed in cervical cancer tissues 7. TLX2 remains tightly linked with LBX2 across vertebrate genomes, suggesting evolutionary conservation of this gene cluster 8.

Sources cited
1
TLX2 is a transcription factor crucial for neural crest-derived cell development and is regulated by PHOX2B
PMID: 16402914
2
TLX2 functions as a transcriptional activator with homeodomain DNA-binding capability
PMID: 20044949
3
PHOX2A and PHOX2B regulate TLX2 expression and are involved in enteric nervous system development
PMID: 17505528
4
TLX2 shows aberrant expression in pan-cancer and correlates with poor prognosis
PMID: 37758722
5
TLX2 hypermethylation serves as a high-yield biomarker for colorectal cancer detection in stool samples
PMID: 31720923
6
TLX2 is part of a prognostic gene signature for uterine sarcoma
PMID: 31662204
7
TLX2 is differentially expressed in cervical cancer tissues
PMID: 31456134
8
TLX2 remains tightly linked with LBX2 across vertebrate genomes showing evolutionary conservation
PMID: 20112453
Disease Associationsⓘ20
neoplasmOpen Targets
0.08Suggestive
Hirschsprung diseaseOpen Targets
0.08Suggestive
cancerOpen Targets
0.07Suggestive
lactose intolerance adult typeOpen Targets
0.07Suggestive
atresia of small intestineOpen Targets
0.07Suggestive
congenital sodium diarrheaOpen Targets
0.07Suggestive
microvillus inclusion diseaseOpen Targets
0.07Suggestive
chronic diarrhea due to glucoamylase deficiencyOpen Targets
0.07Suggestive
inflammatory bowel disease 30Open Targets
0.06Suggestive
Familial intestinal malrotation - facial anomaliesOpen Targets
0.06Suggestive
volvulus of midgutOpen Targets
0.06Suggestive
congenital short bowel syndromeOpen Targets
0.06Suggestive
Meckel's diverticulumOpen Targets
0.06Suggestive
congenital short bowel syndrome, autosomal recessiveOpen Targets
0.06Suggestive
diarrhea 12, with microvillus atrophyOpen Targets
0.05Suggestive
Diarrhea, InfantileOpen Targets
0.05Suggestive
Congenital malabsorptive diarrhea due to paucity of enteroendocrine cellsOpen Targets
0.05Suggestive
Genetic intractable diarrhea of infancyOpen Targets
0.05Suggestive
visceral neuropathy, familial, 1, autosomal recessiveOpen Targets
0.05Suggestive
diarrhea-vomiting due to trehalase deficiencyOpen Targets
0.05Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
TLX1Shared pathway100%TIGD5Shared pathway100%TLX3Shared pathway100%IVNS1ABPProtein interaction83%RANBP17Protein interaction76%SLC8A1Protein interaction71%
Tissue Expression6 tissues
Bone Marrow
100%
Brain
86%
Lung
5%
Heart
0%
Ovary
0%
Liver
0%
Gene Interaction Network
Click a node to explore
TLX2TLX1TIGD5TLX3IVNS1ABPRANBP17SLC8A1
PROTEIN STRUCTURE
Preparing viewer…
PDB3A03 · 1.54 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
1.28LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.83 [0.55–1.28]
RankingsWhere TLX2 stands among ~20K protein-coding genes
  • #14,037of 20,598
    Most Researched21
  • #13,468of 17,882
    Most Constrained (LOEUF)1.28
Genes detectedTLX2
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Functional characterization of a minimal sequence essential for the expression of human TLX2 gene.
PMID: 20044949
BMB Rep · 2009
1.00
2
Comprehensive analysis of TLX2 in pan cancer as a prognostic and immunologic biomarker and validation in ovarian cancer.
PMID: 37758722
Sci Rep · 2023
0.90
3
Transcriptional regulation of TLX2 and impaired intestinal innervation: possible role of the PHOX2A and PHOX2B genes.
PMID: 17505528
Eur J Hum Genet · 2007
0.80
4
The TLX2 homeobox gene is a transcriptional target of PHOX2B in neural-crest-derived cells.
PMID: 16402914
Biochem J · 2006
0.70
5
High-Yield Methylation Markers for Stool-Based Detection of Colorectal Cancer.
PMID: 31720923
Dig Dis Sci · 2020
0.60