HomeAboutRankingsData Sources
© 2026 GeneE
🧬
GeneE
10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
ⓘGeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
PBX4
PBX homeobox 4
Chromosome 19 · 19p13.11
NCBI Gene: 80714Ensembl: ENSG00000105717.15HGNC: HGNC:13403UniProt: Q9BYU1
33PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Transcription Factor
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingDNA-binding transcription factor activity, RNA polymerase II-specificDNA-binding transcription activator activity, RNA polymerase II-specificRNA polymerase II cis-regulatory region sequence-specific DNA bindingliver diseaseschizophreniaSplenomegalydiabetes mellitus
✦AI Summary

PBX4 (PBX homeobox 4) is a transcription factor belonging to the PBX family that functions as a transcriptional cofactor of HOX proteins, participating in various developmental and pathophysiological processes 1. As a DNA-binding transcription factor with RNA polymerase II-specific activity, PBX4 regulates gene expression in the nucleus and is involved in brain development, embryonic organ development, eye development, and neuron development based on its GO annotations. The gene shows significant clinical relevance in multiple disease contexts. In cancer, PBX4 is differentially expressed across 17 cancer types and is associated with pathological stage, tumor grade, and immune subtypes 1. Specifically in colorectal cancer, PBX4 upregulation is associated with increased proliferation, epithelial-mesenchymal transition marker expression, and worse overall survival 2. The protein also plays important roles in metabolic regulation, with genetic variants near PBX4 showing associations with serum lipid levels, including LDL cholesterol and triglycerides 34. Additionally, PBX4 has been identified as a pleiotropic gene linking nonalcoholic fatty liver disease and coronary artery disease 5, and variants are associated with plasma procalcitonin concentrations, suggesting involvement in calcium metabolism and immune function 6. In hematologic malignancies, low PBX4 expression is observed in acute lymphoblastic leukemia patients 7.

Sources cited
1
PBX4 belongs to the PBX transcription factor family, acts as HOX protein cofactor, is differentially expressed in 17 cancer types, and correlates with pathological stage and immune subtypes
PMID: 35740947
2
PBX4 upregulation in colorectal cancer increases cell proliferation, EMT marker expression, and is associated with worse overall survival
PMID: 35261789
3
Genetic variants near PBX4 are associated with LDL cholesterol and triglyceride levels
PMID: 18193044
4
PBX4 variants show sex-specific associations with serum lipid levels in Chinese populations
PMID: 22208664
5
PBX4 is identified as a pleiotropic gene linking nonalcoholic fatty liver disease and coronary artery disease
PMID: 39619635
6
PBX4 variants are associated with plasma procalcitonin concentrations and calcium metabolism pathways
PMID: 41406505
7
Low PBX4 expression is observed in acute lymphoblastic leukemia patients
PMID: 22185299
Disease Associationsⓘ20
liver diseaseOpen Targets
0.30Weak
schizophreniaOpen Targets
0.26Weak
SplenomegalyOpen Targets
0.23Weak
diabetes mellitusOpen Targets
0.22Weak
anorexia nervosaOpen Targets
0.17Weak
attention deficit hyperactivity disorderOpen Targets
0.17Weak
autism spectrum disorderOpen Targets
0.17Weak
major depressive disorderOpen Targets
0.17Weak
Tourette syndromeOpen Targets
0.17Weak
Liver abscessOpen Targets
0.14Weak
Alzheimer diseaseOpen Targets
0.13Weak
bipolar disorderOpen Targets
0.12Weak
obsessive-compulsive disorderOpen Targets
0.12Weak
cancerOpen Targets
0.08Suggestive
portal hypertensionOpen Targets
0.06Suggestive
Congenital dyserythropoietic anemia type IOpen Targets
0.04Suggestive
Metaphyseal chondrodysplasia, Schmid typeOpen Targets
0.04Suggestive
Schmid metaphyseal chondrodysplasiaOpen Targets
0.04Suggestive
fibular hemimeliaOpen Targets
0.04Suggestive
multiple epiphyseal dysplasia due to collagen 9 anomalyOpen Targets
0.04Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
PBX2Shared pathway100%PBX3Shared pathway100%PBX1Shared pathway83%CILP2Protein interaction83%PKNOX1Protein interaction82%PKNOX2Protein interaction73%
Tissue Expression6 tissues
Bone Marrow
100%
Ovary
33%
Lung
30%
Brain
12%
Liver
7%
Heart
3%
Gene Interaction Network
Click a node to explore
PBX4PBX2PBX3PBX1CILP2PKNOX1PKNOX2
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q9BYU1
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.08LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.78 [0.57–1.08]
RankingsWhere PBX4 stands among ~20K protein-coding genes
  • #11,381of 20,598
    Most Researched33
  • #10,950of 17,882
    Most Constrained (LOEUF)1.08
Genes detectedPBX4
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Association of the
PMID: 32568739
Aging (Albany NY) · 2020
1.00
2
Identifying the Potential Roles of PBX4 in Human Cancers Based on Integrative Analysis.
PMID: 35740947
Biomolecules · 2022
0.90
3
Shared Genetic Links Between Nonalcoholic Fatty Liver Disease and Coronary Artery Disease.
PMID: 39619635
Glob Heart · 2024
0.80
4
A genome- and phenome-wide association study of plasma procalcitonin concentrations in individuals of European ancestry.
PMID: 41406505
EBioMedicine · 2026
0.70
5
PMID: 35261789
Am J Cancer Res · 2022
0.60