GBX2: Gastrulation Brain Homeobox 2
A homeobox transcription factor critical for hindbrain development and implicated in cancer
Gene Information Card
| Symbol | GBX2 |
|---|---|
| Full Name | Gastrulation Brain Homeobox 2 |
| Gene Type | protein-coding |
| Chromosomal Location | 2q24.3 |
| NCBI Gene ID | 2637 ncbi.nlm.nih.gov/gene/2637 |
| Ensembl ID | ENSG00000115977 |
| UniProt ID | P52951 |
| OMIM ID | 601135 |
| HGNC ID | 4187 |
| Aliases | MGC138227, MGC138229 |
Description
GBX2 (gastrulation brain homeobox 2) is a homeobox-containing transcription factor that plays a key role in early embryonic development, particularly in the patterning of the hindbrain and the formation of the isthmic organizer. It is also involved in the regulation of cell proliferation and differentiation. Aberrant expression of GBX2 has been linked to several cancers, including prostate and breast cancer.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Prostate cancer | GBX2 overexpression promotes cell proliferation and invasion through activation of Wnt/β-catenin signaling | PMID: 25636840 |
| Breast cancer | GBX2 upregulation correlates with poor prognosis and may drive metastasis via epithelial-mesenchymal transition | PMID: 29187737 |
| Hindbrain malformation | Loss-of-function mutations in GBX2 disrupt rhombomere segmentation and isthmic organizer activity | PMID: 10804168 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Prostate | 8.3 | Low |
| Breast | 6.1 | Low |
| Testis | 4.7 | Low |
| Kidney | 3.2 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| PC-3 (prostate cancer) | 15.2 | Overexpressed |
| MCF-7 (breast cancer) | 9.8 | Moderate expression |
| HEK293 (embryonic kidney) | 2.1 | Low expression |
| SH-SY5Y (neuroblastoma) | 7.5 | Moderate expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | missense | <0.1% | Likely loss of start codon, predicted loss of function |
| c.457C>T (p.Arg153Trp) | missense | <0.1% | Unknown significance, located in homeodomain |
| c.632_633insA (p.Gln211fs) | frameshift | <0.1% | Frameshift, likely loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift and start-loss mutations are predicted to cause loss of GBX2 function, impairing hindbrain development.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported in GBX2.
Dominant Negative (DN)
No dominant-negative mutations described for GBX2.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Wnt signaling pathway (Reactome: R-HSA-195721)
• Developmental biology (Reactome: R-HSA-1266738)
Protein Summary
GBX2 is a 345-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 hindbrain patterning, cell proliferation, and differentiation. The protein is expressed in the developing central nervous system and in adult tissues including brain, prostate, and breast. Post-translational modifications and interaction partners remain to be fully characterized.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| GBX2 Knockout HEK293 Cell Line | EDJ-KQ50293 | Human | 2637 | Details Get a Quote |
| GBX2 Knockout HeLa Cell Line | EDJ-KQ53312 | Human | 2637 | Details Get a Quote |
| GBX2 Knockout A-549 Cell Line | EDJ-KQ61795 | Human | 2637 | Details Get a Quote |
| GBX2 Knockout HCT 116 Cell Line | EDJ-KQ70280 | Human | 2637 | Details Get a Quote |
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