HLX Gene (H2.0-Like Homeobox)
Transcriptional regulator involved in hematopoiesis and immune development
Gene Information Card
| Symbol | HLX |
|---|---|
| Full Name | H2.0-Like Homeobox |
| Gene Type | Protein-coding |
| Chromosomal Location | 1q41 |
| NCBI Gene ID | 3142 ncbi.nlm.nih.gov/gene/3142 |
| Ensembl ID | ENSG00000143190 |
| UniProt ID | Q9H0J2 |
| OMIM ID | 142995 |
| HGNC ID | 4978 |
| Aliases | HB24, Hlx1, H2.0-like homeobox 1 |
Description
HLX (H2.0-like homeobox) is a homeobox-containing transcription factor gene located on chromosome 1q41. It plays a critical role in hematopoiesis, particularly in the development of B cells and T cells, as well as in placental and embryonic development. HLX is expressed in hematopoietic stem cells and is involved in regulating cell proliferation and differentiation. Dysregulation of HLX has been implicated in leukemogenesis and other hematological malignancies.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Acute Myeloid Leukemia (AML) | Overexpression of HLX may disrupt normal hematopoietic differentiation, promoting leukemic transformation. | PMID: 10477629; COSMIC |
| Acute Lymphoblastic Leukemia (ALL) | Altered HLX expression contributes to aberrant lymphoid development. | PMID: 14608356; COSMIC |
| Myelodysplastic Syndromes (MDS) | HLX mutations or expression changes may affect hematopoietic stem cell function. | COSMIC; ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Bone Marrow | 12.5 | Medium |
| Spleen | 8.2 | Low |
| Thymus | 6.9 | Low |
| Lymph Node | 5.4 | Low |
| Placenta | 4.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| K-562 (leukemia) | 15.3 | High expression |
| HL-60 (leukemia) | 11.8 | Moderate expression |
| Jurkat (T-cell leukemia) | 9.7 | Moderate expression |
| HEK 293 (embryonic kidney) | 2.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1Val) | Missense | <0.1% | Potential loss of start codon; uncertain significance |
| c.214C>T (p.Arg72Trp) | Missense | <0.1% | Unknown functional effect |
| c.487_489del (p.Lys163del) | In-frame deletion | <0.1% | May alter homeodomain structure |
Mutation functional classification
Loss of Function (LOF)
Rare missense or deletion variants in the homeodomain may impair DNA binding and transcriptional activity.
Gain of Function (GOF)
Overexpression in leukemia suggests potential gain-of-function in some contexts, but no specific activating mutations are well-characterized.
Dominant Negative (DN)
No dominant-negative mutations have been reported for HLX.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Hematopoietic stem cell differentiation
• Notch signaling pathway (indirect regulation)
• Wnt signaling pathway (crosstalk)
Protein Summary
The HLX protein (UniProt Q9H0J2) is a 371-amino acid homeobox transcription factor containing a conserved homeodomain that mediates sequence-specific DNA binding. It localizes to the nucleus and regulates target genes involved in hematopoietic stem cell maintenance, B-cell and T-cell development, and placental morphogenesis. HLX is expressed predominantly in hematopoietic tissues and is upregulated in certain leukemias, suggesting an oncogenic role.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| HLX Knockout HEK293 Cell Line | EDJ-KQ4879 | Human | 3142 | Details Get a Quote |
| HLX Knockout A-549 Cell Line | EDJ-KQ27674 | Human | 3142 | Details Get a Quote |
| HLX Knockout HCT 116 Cell Line | EDJ-KQ27675 | Human | 3142 | Details Get a Quote |
| HLX Knockout HeLa Cell Line | EDJ-KQ27676 | Human | 3142 | Details Get a Quote |
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