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GeneE
26 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
PAX5
paired box 5
Chromosome 9 Β· 9p13.2
NCBI Gene: 5079Ensembl: ENSG00000196092.14HGNC: HGNC:8619UniProt: C0KTE5
212PubMed Papers
21Diseases
0Drugs
18Pathogenic Variants
FUNCTIONAL ROLE
OncogeneTranscription Factor
RESEARCH IMPACT
Trending
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
nucleoplasmprotein bindingRNA polymerase II cis-regulatory region sequence-specific DNA bindingDNA-binding transcription factor activity, RNA polymerase II-specificacute lymphoblastic leukemiaT-cell acute lymphoblastic leukemianeurodegenerative diseasemajor depressive disorder
✦AI Summary

PAX5 is a B-cell lineage-specific transcription factor essential for B lymphocyte development and differentiation 1. As a master regulator of B-cell commitment, PAX5 functions as a metabolic gatekeeper by transcriptionally repressing glucose uptake and ATP synthesis, maintaining energy deprivation that prevents malignant transformation 1. This metabolic restriction involves direct regulation of NR3C1, TXNIP, and CNR2, with PAX5 loss causing >25-fold increases in glucose uptake and ATP in pre-B cells 1. Clinically, PAX5 lesions occur in >80% of pre-B acute lymphoblastic leukemias, highlighting its tumor-suppressive role 1. In chr9 lymphocytic leukemia, enhancer mutations on chromosome 9 reduce PAX5 expression and correlate with aggressive disease 2. STAG2 deletion impairs PAX5 transcription, reducing B-cell lineage commitment 3. Beyond hematologic malignancies, PAX5 is aberrantly expressed in 65% of Merkel cell carcinomas, though full-length PAX5 alone cannot induce B-cell differentiation without cofactors 4. PAX5 promoter methylation in gastric cancer patients associates with reduced 3-year survival 5. Additionally, PAX5 activates LINE1 retrotransposons to promote cellular senescence through cGAS-STING signaling, with SIRT6 providing suppressive regulation 6. PAX5 thus functions across diverse biological contexts as both a developmental regulator and metabolic/senescence checkpoint controller.

Sources cited
1
PAX5 is a B-lymphoid transcription factor critical for early B-cell development; PAX5 lesions occur in >80% of pre-B-ALL; PAX5 functions as metabolic gatekeeper restricting glucose and ATP to prevent transformation; PAX5 regulates NR3C1, TXNIP, and CNR2
PMID: 28192788
2
Mutations in chromosome 9p13 enhancer reduce PAX5 expression in chronic lymphocytic leukemia and result in more aggressive disease
PMID: 26200345
3
STAG2 deletion decreases chromatin accessibility and transcription of PAX5, reducing B-cell lineage commitment
PMID: 31495782
4
PAX5 is expressed in 65% of Merkel cell carcinomas; full-length PAX5 cannot induce B-cell differentiation without cofactors like IRF4 and SPI1
PMID: 40034069
5
PAX5 promoter methylation in gastric cancer correlates with age and lower 3-year overall survival
PMID: 39097885
6
PAX5 directly activates LINE1 retrotransposons to induce cellular senescence and SASP through cGAS-STING pathway; SIRT6 suppresses PAX5 transcription
PMID: 38866979
Disease Associationsβ“˜21
acute lymphoblastic leukemiaOpen Targets
0.59Moderate
T-cell acute lymphoblastic leukemiaOpen Targets
0.52Moderate
neurodegenerative diseaseOpen Targets
0.51Moderate
major depressive disorderOpen Targets
0.50Moderate
precursor B-cell acute lymphoblastic leukemiaOpen Targets
0.49Moderate
Neurodevelopmental disorderOpen Targets
0.49Moderate
leukemia, acute lymphoblastic, susceptibility to, 3Open Targets
0.47Moderate
genetic disorderOpen Targets
0.45Moderate
insomniaOpen Targets
0.41Moderate
bipolar disorderOpen Targets
0.41Moderate
prostate adenocarcinomaOpen Targets
0.41Moderate
depressive disorderOpen Targets
0.39Weak
B-cell acute lymphoblastic leukemiaOpen Targets
0.37Weak
lymphoid neoplasmOpen Targets
0.37Weak
lung carcinomaOpen Targets
0.37Weak
hemangioblastomaOpen Targets
0.37Weak
esophageal adenocarcinomaOpen Targets
0.37Weak
kidney neoplasmOpen Targets
0.37Weak
Ovarian Endometrioid Adenocarcinoma with Squamous DifferentiationOpen Targets
0.37Weak
superficial spreading melanomaOpen Targets
0.37Weak
Leukemia, acute lymphoblastic, 3UniProt
Pathogenic Variants18
NM_016734.3(PAX5):c.419G>A (p.Arg140Gln)Likely pathogenic
Neurodevelopmental disorder|Leukemia, acute lymphoblastic, susceptibility to, 3|Inborn genetic diseases
β˜…β˜…β˜†β˜†2024β†’ Residue 140
NM_016734.3(PAX5):c.445C>T (p.Gln149Ter)Pathogenic
Inborn genetic diseases
β˜…β˜†β˜†β˜†2025β†’ Residue 149
NM_016734.3(PAX5):c.963del (p.Ala322fs)Likely pathogenic
Acute lymphoid leukemia
β˜…β˜†β˜†β˜†2023β†’ Residue 322
NM_016734.3(PAX5):c.1074del (p.Ser357_Trp358insTer)Likely pathogenic
Acute lymphoid leukemia
β˜…β˜†β˜†β˜†2023β†’ Residue 357
NM_016734.3(PAX5):c.613G>T (p.Glu205Ter)Likely pathogenic
Acute lymphoid leukemia
β˜…β˜†β˜†β˜†2023β†’ Residue 205
NM_016734.3(PAX5):c.583_584insCGGGGGAGCAA (p.Asn195fs)Likely pathogenic
Acute lymphoid leukemia
β˜…β˜†β˜†β˜†2023β†’ Residue 195
NM_016734.3(PAX5):c.46+1G>ALikely pathogenic
Acute lymphoid leukemia
β˜…β˜†β˜†β˜†2023
NM_016734.3(PAX5):c.1073G>A (p.Trp358Ter)Likely pathogenic
Acute lymphoid leukemia
β˜…β˜†β˜†β˜†2023β†’ Residue 358
NM_016734.3(PAX5):c.239C>G (p.Pro80Arg)Likely pathogenic
Acute lymphoid leukemia
β˜…β˜†β˜†β˜†2023β†’ Residue 80
NM_016734.3(PAX5):c.967G>T (p.Gly323Ter)Likely pathogenic
Acute lymphoid leukemia
β˜…β˜†β˜†β˜†2023β†’ Residue 323
NM_016734.3(PAX5):c.134_147del (p.Ala45fs)Likely pathogenic
Acute lymphoid leukemia
β˜…β˜†β˜†β˜†2023β†’ Residue 45
NM_016734.3(PAX5):c.963dup (p.Ala322fs)Likely pathogenic
Acute lymphoid leukemia
β˜…β˜†β˜†β˜†2023β†’ Residue 322
NM_016734.3(PAX5):c.263dup (p.Val90fs)Likely pathogenic
Acute lymphoid leukemia
β˜…β˜†β˜†β˜†2023β†’ Residue 90
NM_016734.3(PAX5):c.388C>A (p.Pro130Thr)Likely pathogenic
Acute lymphoid leukemia
β˜…β˜†β˜†β˜†2023β†’ Residue 130
NM_016734.3(PAX5):c.77T>G (p.Val26Gly)Likely pathogenic
Acute lymphoid leukemia
β˜…β˜†β˜†β˜†2023β†’ Residue 26
NM_016734.3(PAX5):c.401C>G (p.Ser134Cys)Likely pathogenic
Acute lymphoid leukemia
β˜…β˜†β˜†β˜†2023β†’ Residue 134
NM_016734.3(PAX5):c.157G>C (p.Asp53His)Pathogenic
Neurodevelopmental disorder
β˜†β˜†β˜†β˜†2021β†’ Residue 53
NM_016734.3(PAX5):c.661C>T (p.Arg221Trp)Pathogenic
Neurodevelopmental disorder|Leukemia, acute lymphoblastic, susceptibility to, 3
β˜†β˜†β˜†β˜†2021β†’ Residue 221
View on ClinVar β†—
Related Genes
LOC102723407Protein interaction97%FLT3Protein interaction97%BCL6Protein interaction95%EBF1Protein interaction95%POU2AF1Protein interaction91%FOXO1Protein interaction89%
Tissue Expression6 tissues
Brain
100%
Bone Marrow
49%
Lung
2%
Liver
1%
Ovary
0%
Heart
0%
Gene Interaction Network
Click a node to explore
PAX5LOC102723407FLT3BCL6EBF1POU2AF1FOXO1
PROTEIN STRUCTURE
Preparing viewer…
PDB1K78 Β· 2.25 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.36Moderately Constrained
pLIβ“˜
1.00Intolerant
Observed/Expected LoF0.20 [0.12–0.36]
RankingsWhere PAX5 stands among ~20K protein-coding genes
  • #1,965of 20,598
    Most Researched212 Β· top 10%
  • #2,269of 5,498
    Most Pathogenic Variants18
  • #1,619of 17,882
    Most Constrained (LOEUF)0.36 Β· top 10%
Genes detectedPAX5
Sources retrieved26 papers
Response timeβ€”
πŸ“„ Sources
26β–Ό
1
Non-coding recurrent mutations in chronic lymphocytic leukaemia.
PMID: 26200345
Nature Β· 2015
1.00
2
Cohesin Members Stag1 and Stag2 Display Distinct Roles in Chromatin Accessibility and Topological Control of HSC Self-Renewal and Differentiation.
PMID: 31495782
Cell Stem Cell Β· 2019
0.90
3
Lymphoid precursors.
PMID: 10712944
Curr Opin Immunol Β· 2000
0.80
4
Understanding the function of Pax5 in development of docetaxel-resistant neuroendocrine-like prostate cancers.
PMID: 39183332
Cell Death Dis Β· 2024
0.76
5
Metabolic gatekeeper function of B-lymphoid transcription factors.
PMID: 28192788
Nature Β· 2017
0.70