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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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PBX2
PBX homeobox 2
Chromosome 6 · 6p21.32
NCBI Gene: 5089Ensembl: ENSG00000204304.12HGNC: HGNC:8633UniProt: A0A024RCR3
62PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Transcription Factor
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
DNA-binding transcription factor bindingnucleusRNA polymerase II transcription regulatory region sequence-specific DNA bindingnucleoplasmneurodegenerative diseaselysosomal storage diseaseAlzheimer diseaseParkinson disease
✦AI Summary

PBX2 (PBX homeobox 2) is a transcriptional activator that belongs to the PBX family of homeodomain-containing proteins. PBX2 functions as a DNA-binding transcription factor that binds the sequence 5'-ATCAATCAA-3' and activates transcription of target genes such as PF4 in complex with MEIS1 1. The protein demonstrates cooperative DNA binding with HOX proteins, including HOXB-7 and HOXB-8, and forms heterodimeric and trimeric complexes with cofactors like Pbx2 and Meis1 to determine target gene specificity 21. PBX2 is widely expressed across tissues and cell types, unlike its family member PBX1 3. The gene is located on chromosome 6 within the major histocompatibility complex region 4. In disease contexts, PBX2 has been implicated in cancer progression, where it acts as an upstream transcriptional activator driving oncogenic pathways in head and neck squamous cell carcinoma 5, and cooperates with HOXA6 to promote metastasis in gastric cancer 6. Additionally, PBX2 has been identified as having diagnostic potential in inflammatory conditions like Crohn's disease 7. The protein's activity in chr6 remodeling and epigenetic regulation involves recruitment by factors like ASH1L to regulatory elements 8.

Sources cited
1
PBX2 forms complexes with MEIS1 and HOXA10, and demonstrates heterodimeric binding to target genes
PMID: 15494461
2
PBX2 binds cooperatively to DNA with HOX proteins including HOXB-7 and HOXB-8
PMID: 7577680
3
PBX2 is widely expressed across tissues unlike PBX1, and shares extensive homology with other PBX family members
PMID: 1682799
4
PBX2 gene is located on chromosome 6 within the major histocompatibility complex region
PMID: 7759099
5
PBX2 acts as upstream transcriptional activator in head and neck squamous cell carcinoma
PMID: 40270464
6
PBX2 cooperates with HOXA6 to promote metastasis in gastric cancer
PMID: 33535170
7
PBX2 has diagnostic potential in Crohn's disease
PMID: 39541897
8
PBX2 is implicated as a potential recruitment factor for ASH1L activity at regulatory elements
PMID: 39390582
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.30Weak
Alzheimer diseaseOpen Targets
0.28Weak
lysosomal storage diseaseOpen Targets
0.28Weak
multiple sclerosisOpen Targets
0.28Weak
Parkinson diseaseOpen Targets
0.28Weak
head and neck squamous cell carcinomaOpen Targets
0.05Suggestive
gastric cancerOpen Targets
0.05Suggestive
non-small cell lung carcinomaOpen Targets
0.04Suggestive
esophageal squamous cell carcinomaOpen Targets
0.03Suggestive
melanomaOpen Targets
0.02Suggestive
neoplasmOpen Targets
0.02Suggestive
breast cancerOpen Targets
0.02Suggestive
chronic obstructive pulmonary diseaseOpen Targets
0.02Suggestive
allergic rhinitisOpen Targets
0.02Suggestive
asthmaOpen Targets
0.02Suggestive
cancerOpen Targets
0.01Suggestive
gliomaOpen Targets
0.01Suggestive
metabolic syndromeOpen Targets
0.01Suggestive
NephroblastomaOpen Targets
0.01Suggestive
cervical cancerOpen Targets
0.01Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
PBX4Shared pathway100%PBX3Shared pathway100%PKNOX1Protein interaction97%SLC38A1Protein interaction91%PBX1Shared pathway83%AGPAT1Protein interaction81%
Tissue Expression6 tissues
Ovary
100%
Lung
89%
Bone Marrow
64%
Liver
52%
Heart
40%
Brain
35%
Gene Interaction Network
Click a node to explore
PBX2PBX4PBX3PKNOX1SLC38A1PBX1AGPAT1
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt P40425
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.40Moderately Constrained
pLIⓘ
1.00Intolerant
Observed/Expected LoF0.24 [0.14–0.40]
RankingsWhere PBX2 stands among ~20K protein-coding genes
  • #7,490of 20,598
    Most Researched62
  • #2,000of 17,882
    Most Constrained (LOEUF)0.40 · top quartile
Genes detectedPBX2
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Integrative multi-omics analysis of Crohn's disease and metabolic syndrome: Unveiling the underlying molecular mechanisms of comorbidity.
PMID: 39541897
Comput Biol Med · 2025
1.00
2
PBX2 and PBX3, new homeobox genes with extensive homology to the human proto-oncogene PBX1.
PMID: 1682799
Mol Cell Biol · 1991
0.90
3
HOXA10, Pbx2, and Meis1 protein expression in the human endometrium: formation of multimeric complexes on HOXA10 target genes.
PMID: 15494461
J Clin Endocrinol Metab · 2005
0.80
4
PRMT1-Mediated SWI/SNF Complex Recruitment via SMARCC1 Drives IGF2BP2 Transcription to Enhance Carboplatin Resistance in Head and Neck Squamous Cell Carcinoma.
PMID: 40270464
Adv Sci (Weinh) · 2025
0.70
5
The novel gene G17, located in the human major histocompatibility complex, encodes PBX2, a homeodomain-containing protein.
PMID: 7759099
Genomics · 1995
0.60