LBX2: A Homeobox Transcription Factor in Development and Disease
Comprehensive genomic and proteomic overview of LBX2, including expression, mutations, and clinical relevance.
Gene Information Card
| Symbol | LBX2 |
|---|---|
| Full Name | Ladybird homeobox 2 |
| Gene Type | protein-coding |
| Chromosomal Location | 2p13.1 |
| NCBI Gene ID | 26247 ncbi.nlm.nih.gov/gene/26247 |
| Ensembl ID | ENSG00000115970 |
| UniProt ID | Q9Y2E6 |
| OMIM ID | 604256 |
| HGNC ID | 6558 |
| Aliases | LBX2, ladybird homeobox 2 homolog (Drosophila) |
Description
LBX2 (ladybird homeobox 2) is a protein-coding gene that encodes a homeobox transcription factor involved in embryonic development, particularly in the specification of neural crest-derived cell lineages and muscle progenitor cells. It belongs to the ladybird homeobox family and is implicated in craniofacial and limb development. LBX2 expression is also observed in certain cancers, suggesting a potential role in tumorigenesis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Craniofacial abnormalities | LBX2 mutations may disrupt neural crest cell migration or differentiation, leading to developmental defects. | OMIM #604256; limited case reports |
| Rhabdomyosarcoma | Dysregulation of LBX2 expression in muscle progenitor cells may contribute to tumor formation. | COSMIC; expression studies |
| Breast cancer | Altered LBX2 expression has been linked to poor prognosis and metastatic potential. | NCBI Gene; literature review |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Skeletal muscle | 12.5 | Medium |
| Heart | 8.3 | Low |
| Brain | 5.1 | Low |
| Lung | 3.2 | Low |
| Liver | 1.8 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| A549 (lung carcinoma) | 2.1 | Low expression |
| MCF7 (breast cancer) | 4.5 | Moderate expression |
| RD (rhabdomyosarcoma) | 15.3 | High expression |
| HEK293 (embryonic kidney) | 1.0 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.101C>T (p.Pro34Leu) | Missense | <0.1% | Unknown functional impact |
| c.205G>A (p.Gly69Arg) | Missense | <0.1% | Predicted damaging (SIFT, PolyPhen) |
| c.302_303insA (p.Tyr101*) | Frameshift | <0.1% | Loss of function (nonsense-mediated decay) |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations (e.g., p.Tyr101*) are predicted to cause loss of function via truncated protein or nonsense-mediated decay.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported in LBX2.
Dominant Negative (DN)
No evidence for dominant-negative effects in LBX2.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Developmental Biology (Reactome: R-HSA-1266738)
• Transcriptional regulation by homeobox proteins (KEGG: hsa04350)
Protein Summary
LBX2 encodes a 210-amino acid homeobox transcription factor containing a conserved DNA-binding homeodomain. The protein localizes to the nucleus and regulates target genes involved in cell fate determination, particularly in muscle and neural crest development. Structural analysis reveals a typical three-helix homeodomain fold. Post-translational modifications include phosphorylation, which may modulate its transcriptional activity.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| LBX2 Knockout HEK293 Cell Line | EDJ-KQ9639 | Human | 85474 | Details Get a Quote |
| LBX2 Knockout A-549 Cell Line | EDJ-KQ37722 | Human | 85474 | Details Get a Quote |
| LBX2 Knockout HCT 116 Cell Line | EDJ-KQ37723 | Human | 85474 | Details Get a Quote |
| LBX2 Knockout HeLa Cell Line | EDJ-KQ57723 | Human | 85474 | Details Get a Quote |
