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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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GBX2
gastrulation brain homeobox 2
Chromosome 2 · 2q37.2
NCBI Gene: 2637Ensembl: ENSG00000168505.7HGNC: HGNC:4186UniProt: F8VY47
24PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Transcription Factor
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
sequence-specific double-stranded DNA bindingRNA polymerase II transcription regulatory region sequence-specific DNA bindingDNA-binding transcription factor activity, RNA polymerase II-specificregulation of transcription by RNA polymerase IIsmoking initiationPhenotypic abnormalitymathematical abilityneurodegenerative disease
✦AI Summary

GBX2 (gastrulation brain homeobox 2) is a homeobox-containing transcription factor that functions as a DNA-binding protein with roles in both normal development and cancer pathogenesis. During embryonic development, GBX2 acts as a candidate control gene for cell pluripotency and differentiation 1, with expression detected in undifferentiated embryonic stem cells and the inner cell mass of preimplantation embryos before being downregulated upon differentiation. The gene encodes a 347-amino acid protein with a conserved homeodomain 2 and is expressed in the developing central nervous system 2. In cancer contexts, GBX2 is consistently overexpressed in prostate and breast cancer cell lines compared to normal tissues 34. GBX2 promotes cancer cell growth through multiple mechanisms: it transcriptionally upregulates interleukin-6 (IL-6) via ATTA motif binding in the IL-6 promoter 5, and activates the Wnt/β-catenin signaling pathway to promote proliferation, invasion, and angiogenesis 6. GBX2 downregulation reduces clonogenic ability by ~50% and tumorigenicity by >70% in xenograft models 4. Additionally, GBX2 expression is regulated post-transcriptionally through the circRERE/miR-1299 axis and N6-methyladenosine modifications in hepatocellular carcinoma 7. Early-life stress induces differential methylation near GBX2, potentially affecting offspring central nervous system development 8.

Sources cited
1
GBX2 protein structure: 347 amino acids with conserved homeodomain; expressed in developing human CNS
PMID: 8838315
2
GBX2 is a candidate control gene for cell pluripotency and differentiation; expressed in undifferentiated embryonic stem cells and preimplantation embryo inner cell mass
PMID: 9417909
3
GBX2 is overexpressed in multiple prostate cancer cell lines (TSU-PR1, LNCaP, PC-3, DU145) compared to normal prostate
PMID: 8977637
4
GBX2 downregulation reduces clonogenic ability by ~50% and tumorigenicity by >70% in xenograft models of prostate cancer
PMID: 9537237
5
GBX2 protein binds ATTA motif in IL-6 promoter; transcriptionally upregulates IL-6 to stimulate prostate cancer cell growth
PMID: 10690529
6
GBX2 silencing inhibits breast cancer cell proliferation, invasion, and angiogenesis by suppressing Wnt/β-catenin signaling and downstream targets VEGF, MMP-2, MMP-9
PMID: 30223390
7
GBX2 expression is regulated through circRERE/miR-1299 axis and N6-methyladenosine modifications by ZC3H13 in hepatocellular carcinoma
PMID: 36222159
8
Childhood maltreatment exposure causes differential methylation near GBX2 gene in sperm, potentially affecting offspring brain development
PMID: 39753887
Disease Associationsⓘ20
smoking initiationOpen Targets
0.41Moderate
Phenotypic abnormalityOpen Targets
0.32Weak
mathematical abilityOpen Targets
0.31Weak
neurodegenerative diseaseOpen Targets
0.28Weak
schizophreniaOpen Targets
0.21Weak
nicotine dependenceOpen Targets
0.21Weak
Alzheimer diseaseOpen Targets
0.20Weak
intelligenceOpen Targets
0.17Weak
protozoa infectious diseaseOpen Targets
0.13Weak
Abnormality of the skeletal systemOpen Targets
0.11Weak
placenta praeviaOpen Targets
0.10Suggestive
Abruptio PlacentaeOpen Targets
0.09Suggestive
alcohol drinkingOpen Targets
0.09Suggestive
autosomal dominant nonsyndromic hearing lossOpen Targets
0.06Suggestive
deafnessOpen Targets
0.06Suggestive
hearing loss, autosomal recessiveOpen Targets
0.06Suggestive
Autosomal recessive cerebellar ataxia - blindness - deafnessOpen Targets
0.05Suggestive
peroxisome biogenesis disorder 4BOpen Targets
0.05Suggestive
hearing loss, autosomal dominant 87Open Targets
0.05Suggestive
hearing loss, autosomal dominant 86Open Targets
0.05Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
FGF8Protein interaction89%WNT1Protein interaction89%PAX2Protein interaction83%SHHProtein interaction81%OTX2Protein interaction75%CNTNAP3BShared pathway50%
Tissue Expression6 tissues
Brain
100%
Bone Marrow
50%
Heart
0%
Lung
0%
Ovary
0%
Liver
0%
Gene Interaction Network
Click a node to explore
GBX2FGF8WNT1PAX2SHHOTX2CNTNAP3B
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt P52951
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.60Moderately Constrained
pLIⓘ
0.88Intermediate
Observed/Expected LoF0.28 [0.15–0.60]
RankingsWhere GBX2 stands among ~20K protein-coding genes
  • #13,195of 20,598
    Most Researched24
  • #4,072of 17,882
    Most Constrained (LOEUF)0.60 · top quartile
Genes detectedGBX2
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Downregulated GBX2 gene suppresses proliferation, invasion and angiogenesis of breast cancer cells through inhibiting the Wnt/β-catenin signaling pathway.
PMID: 30223390
Cancer Biomark · 2018
1.00
2
Characterization and sequence analysis of the human homeobox-containing gene GBX2.
PMID: 8838315
Genomics · 1996
0.90
3
Down-regulation of homeobox gene GBX2 expression inhibits human prostate cancer clonogenic ability and tumorigenicity.
PMID: 9537237
Cancer Res · 1998
0.80
4
The mouse homeobox gene, Gbx2: genomic organization and expression in pluripotent cells in vitro and in vivo.
PMID: 9417909
Genomics · 1997
0.70
5
circRERE regulates the expression of GBX2 through miR-1299 and ZC3H13/N
PMID: 36222159
J Biosci · 2022
0.60