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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
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PBX3
PBX homeobox 3
Chromosome 9 Β· 9q33.3
NCBI Gene: 5090Ensembl: ENSG00000167081.18HGNC: HGNC:8634UniProt: P40426
85PubMed Papers
20Diseases
0Drugs
3Pathogenic Variants
FUNCTIONAL ROLE
Transcription Factor
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
animal organ morphogenesispositive regulation of transcription by RNA polymerase IIDNA-binding transcription activator activity, RNA polymerase II-specificchromatindentureschronic obstructive pulmonary diseasegastroesophageal reflux diseasedental caries
✦AI Summary

PBX3 is a homeobox transcription factor that functions as a DNA-binding transcriptional activator, recognizing the sequence 5'-ATCAATCAA-3'. It belongs to the pre-B-cell leukemia homeobox family and shares 94% amino acid identity with PBX1 over the homeodomain region 1. Unlike PBX1, PBX3 is widely expressed across fetal and adult tissues 1. In normal development, PBX3 plays roles in neurodevelopment and lineage specification. Chr9 glucocorticoid exposure during neural differentiation upregulates PBX3, which primes inhibitory neuron lineage specification in human neural organoids 2. This suggests PBX3 mediates developmental responses to environmental signals. In cancer pathogenesis, PBX3 is frequently dysregulated and promotes malignancy through multiple mechanisms. It enhances cell proliferation by modulating cell cycle progression and inhibits apoptotic pathways, promoting tumor cell survival 3. PBX3 also facilitates epithelial-mesenchymal transition and invasive potential 3. Elevated PBX3 expression correlates with poor prognosis in gliomas, particularly low-grade gliomas, and serves as an independent prognostic factor 4. MicroRNA-mediated PBX3 suppression inhibits proliferation and induces apoptosis in hepatocellular carcinoma and multiple myeloma 56. Additionally, PBX3 is transcriptionally regulated by ETV5 during neuroendocrine prostate cancer development, contributing to castration resistance and stemness 7. PBX3 represents a promising diagnostic biomarker and therapeutic target across multiple cancer types.

Sources cited
1
PBX3 is a homeobox gene with 94% identity to PBX1, widely expressed across tissues unlike PBX1, and subject to alternative splicing
PMID: 1682799
2
PBX3 primes inhibitory neuron lineage specification during chronic glucocorticoid exposure in human neural organoids
PMID: 39951527
3
PBX3 promotes cell proliferation, inhibits apoptosis, facilitates EMT, and interacts with other transcription factors to regulate target genes
PMID: 41662636
4
PBX3 is highly expressed in gliomas with increased expression correlating with malignancy; serves as independent prognostic factor for poor outcome in low-grade glioma
PMID: 38324550
5
miR-302a targets PBX3 to suppress hepatocellular carcinoma cell proliferation and promote apoptosis via MAPK pathway inhibition
PMID: 30765768
6
miR-497 directly targets PBX3 to suppress multiple myeloma cell proliferation and induce apoptosis
PMID: 28042507
7
ETV5 transcriptionally regulates PBX3 to promote castration resistance and stemness in neuroendocrine prostate cancer
PMID: 40117308
8
PBX3 motif is identified as a cancer-specific epigenetic driver in pan-cancer analysis of chromatin accessibility
PMID: 37914932
Disease Associationsβ“˜20
denturesOpen Targets
0.48Moderate
chronic obstructive pulmonary diseaseOpen Targets
0.46Moderate
gastroesophageal reflux diseaseOpen Targets
0.45Moderate
dental cariesOpen Targets
0.40Moderate
esophageal diseaseOpen Targets
0.39Weak
X-linked cone-rod dystrophyOpen Targets
0.36Weak
spondylosisOpen Targets
0.35Weak
smoking cessationOpen Targets
0.31Weak
asthmaOpen Targets
0.31Weak
lower respiratory tract diseaseOpen Targets
0.30Weak
respiratory system diseaseOpen Targets
0.30Weak
Chronic painOpen Targets
0.29Weak
obstructive sleep apneaOpen Targets
0.26Weak
PainOpen Targets
0.26Weak
mouth neoplasmOpen Targets
0.26Weak
tooth diseaseOpen Targets
0.23Weak
injuryOpen Targets
0.21Weak
chronic bronchitisOpen Targets
0.19Weak
peripheral nervous system diseaseOpen Targets
0.15Weak
upper respiratory tract disorderOpen Targets
0.12Weak
Pathogenic Variants3
NM_006195.6(PBX3):c.945dup (p.Ala316fs)Likely pathogenic
X-linked cone-rod dystrophy
β˜†β˜†β˜†β˜†2023β†’ Residue 316
NM_006195.6(PBX3):c.946_947insTA (p.Ala316fs)Likely pathogenic
X-linked cone-rod dystrophy
β˜†β˜†β˜†β˜†2023β†’ Residue 316
NM_006195.6(PBX3):c.273del (p.Gly92fs)Likely pathogenic
X-linked cone-rod dystrophy
β˜†β˜†β˜†β˜†2023β†’ Residue 92
View on ClinVar β†—
Related Genes
PBX2Shared pathway100%PBX4Shared pathway100%AGPAT1Protein interaction91%PBX1Shared pathway83%MAB21L2Protein interaction79%FAM222AProtein interaction78%
Tissue Expression6 tissues
Ovary
100%
Heart
73%
Liver
24%
Bone Marrow
22%
Lung
21%
Brain
16%
Gene Interaction Network
Click a node to explore
PBX3PBX2PBX4AGPAT1PBX1MAB21L2FAM222A
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt P40426
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
0.36Moderately Constrained
pLIβ“˜
1.00Intolerant
Observed/Expected LoF0.18 [0.10–0.36]
RankingsWhere PBX3 stands among ~20K protein-coding genes
  • #5,624of 20,598
    Most Researched85
  • #4,005of 5,498
    Most Pathogenic Variants3
  • #1,582of 17,882
    Most Constrained (LOEUF)0.36 Β· top 10%
Genes detectedPBX3
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Epigenetic regulation during cancer transitions across 11 tumour types.
PMID: 37914932
Nature Β· 2023
1.00
2
Chronic exposure to glucocorticoids amplifies inhibitory neuron cell fate during human neurodevelopment in organoids.
PMID: 39951527
Sci Adv Β· 2025
0.90
3
PBX2 and PBX3, new homeobox genes with extensive homology to the human proto-oncogene PBX1.
PMID: 1682799
Mol Cell Biol Β· 1991
0.80
4
miR-302a inhibits human HepG2 and SMMC-7721 cells proliferation and promotes apoptosis by targeting MAP3K2 and PBX3.
PMID: 30765768
Sci Rep Β· 2019
0.70
5
PBX3 as a biomarker for the early diagnosis and prediction of prognosis of glioma.
PMID: 38324550
PLoS One Β· 2024
0.60