TLX2: T-Cell Leukemia Homeobox 2
A key transcription factor in neural crest development and Hirschsprung disease
Gene Information Card
| Symbol | TLX2 |
|---|---|
| Full Name | T-cell leukemia homeobox 2 |
| Gene Type | protein-coding |
| Chromosomal Location | 6p21.1 |
| NCBI Gene ID | 3196 ncbi.nlm.nih.gov/gene/3196 |
| Ensembl ID | ENSG00000111817 |
| UniProt ID | O43711 |
| OMIM ID | 604240 |
| HGNC ID | 11842 |
| Aliases | HOX11L1, Ncx, Tlx-2 |
Description
TLX2 (T-cell leukemia homeobox 2) is a homeobox transcription factor essential for the development of neural crest-derived enteric neurons. It is expressed in the developing nervous system and plays a critical role in the formation of the enteric nervous system. Mutations in TLX2 are associated with Hirschsprung disease (HSCR), a congenital disorder characterized by the absence of enteric ganglia in the distal colon.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hirschsprung disease (HSCR) | Loss-of-function mutations impair enteric neuron development, leading to aganglionosis | PMID: 11532986, ClinVar |
| T-cell acute lymphoblastic leukemia (T-ALL) | Aberrant expression due to chromosomal rearrangements may contribute to leukemogenesis | PMID: 10477718 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 0.5 | Not detected |
| Colon | 0.2 | Not detected |
| Small intestine | 0.1 | Not detected |
| Testis | 0.3 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 0.1 | Low expression |
| K562 | 0.0 | Not expressed |
| SH-SY5Y | 0.0 | Not expressed |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.251C>T (p.Pro84Leu) | Missense | Rare | Loss of function; associated with HSCR |
| c.427C>T (p.Arg143*) | Nonsense | Rare | Loss of function; associated with HSCR |
Mutation functional classification
Loss of Function (LOF)
Missense and nonsense mutations in TLX2 reduce or abolish DNA-binding and transcriptional activity, leading to Hirschsprung disease.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Neural crest differentiation
• Enteric nervous system development
Protein Summary
TLX2 encodes a 283-amino acid homeodomain-containing transcription factor. The protein localizes to the nucleus and binds to DNA via its homeodomain to regulate target genes involved in neural crest cell migration and differentiation. It is highly expressed during embryonic development in the neural tube and neural crest derivatives.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TLX2 Knockout HEK293 Cell Line | EDJ-KQ4891 | Human | 3196 | Details Get a Quote |
| TLX2 Knockout HeLa Cell Line | EDJ-KQ53544 | Human | 3196 | Details Get a Quote |
| TLX2 Knockout A-549 Cell Line | EDJ-KQ62015 | Human | 3196 | Details Get a Quote |
| TLX2 Knockout HCT 116 Cell Line | EDJ-KQ70492 | Human | 3196 | Details Get a Quote |
