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25 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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PDX1
pancreatic and duodenal homeobox 1
Chromosome 13 · 13q12.2
NCBI Gene: 3651Ensembl: ENSG00000139515.6HGNC: HGNC:6107UniProt: P52945
199PubMed Papers
23Diseases
0Drugs
14Pathogenic Variants
FUNCTIONAL ROLE
Transcription Factor
CLINICAL
OMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
positive regulation of transcription by RNA polymerase IIDNA-binding transcription factor activitynucleoplasminsulin secretionpancreatic agenesis 1maturity-onset diabetes of the young type 4MODYPartial pancreatic agenesis
✦AI Summary

PDX1 is a homeodomain-containing transcription factor that serves as a master regulator of pancreatic development and β-cell function 1. Functionally, PDX1 activates transcription of critical genes including insulin, somatostatin, glucokinase, and glucose transporter type 2 (GLUT2), with particular importance in glucose-dependent insulin gene regulation 1. During development, PDX1 specifies the early pancreatic epithelium and duodenal patterning, acting downstream of RFX6 in intestinal development 2. In mature β-cells, PDX1 maintains the hormone-producing phenotype required for glucose homeostasis 1. Mechanistically, PDX1 functions as a sequence-specific DNA-binding transcription factor recognizing the motif 5'-[CT]TAAT[TG]-3' 1. Its transcriptional activity is enhanced by TAZ, a Hippo pathway co-activator that physically interacts with PDX1's homeodomain, promoting insulin production even under low-glucose conditions 3. Additionally, m6A methylation of PDX1-pathway transcripts regulates β-cell biology, with decreased m6A levels impairing PDX1 protein levels and insulin secretion 4. Clinically, PDX1 mutations cause monogenic diabetes (MODY4) and pancreatic agenesis 1. In cancer, PDX1 exhibits context-dependent roles: functioning as a tumor suppressor in gastric cancer while promoting tumorigenesis in pancreatic ductal adenocarcinoma 5. PDX1-targeted therapies show promise for PDAC treatment 6.

Sources cited
1
PDX1 is a homeodomain transcription factor regulating insulin gene transcription, pancreatic development, and β-cell function; binds specific DNA motifs in insulin promoter
PMID: 25845046
2
PDX1 is a downstream transcriptional target of RFX6 required for duodenal development
PMID: 38587174
3
TAZ physically interacts with PDX1 through homeodomain, enhancing PDX1 DNA-binding and transcriptional activity to promote insulin production
PMID: 35279781
4
m6A methylation regulates PDX1 protein levels; decreased m6A in type 2 diabetes islets impairs PDX1 and insulin secretion
PMID: 31867565
5
PDX1 exhibits dual context-dependent roles in cancer: tumor suppressor in gastric cancer, pro-oncogenic in pancreatic, esophageal, colorectal, and prostate cancers
PMID: 41574674
6
PDX1-targeted therapies (RNAi, gene therapy, small inhibitor drugs) inhibit PDAC tumor growth and extend survival in preclinical models
PMID: 27386488
Disease Associationsⓘ23
pancreatic agenesis 1Open Targets
0.72Strong
maturity-onset diabetes of the young type 4Open Targets
0.71Strong
MODYOpen Targets
0.71Strong
Partial pancreatic agenesisOpen Targets
0.64Moderate
type 2 diabetes mellitusOpen Targets
0.56Moderate
permanent neonatal diabetes mellitusOpen Targets
0.50Moderate
maturity-onset diabetes of the youngOpen Targets
0.48Moderate
scoliosisOpen Targets
0.41Moderate
pancreatic carcinomaOpen Targets
0.34Weak
hypothyroidismOpen Targets
0.33Weak
duodenal ulcerOpen Targets
0.26Weak
peptic ulcer diseaseOpen Targets
0.26Weak
Increased total eosinophil countOpen Targets
0.23Weak
monogenic diabetesOpen Targets
0.23Weak
frozen shoulderOpen Targets
0.23Weak
Pancreatic hypoplasiaOpen Targets
0.21Weak
neonatal diabetes mellitusOpen Targets
0.13Weak
type 1 diabetes mellitusOpen Targets
0.12Weak
maturity-onset diabetes of the young type 6Open Targets
0.10Weak
maturity-onset diabetes of the young type 2Open Targets
0.10Weak
Maturity-onset diabetes of the young 4UniProt
Pancreatic agenesis 1UniProt
Type 2 diabetes mellitusUniProt
Pathogenic Variants14
NM_000209.4(PDX1):c.671_672dup (p.Gln225fs)Likely pathogenic
Maturity-onset diabetes of the young|Type 2 diabetes mellitus;Maturity-onset diabetes of the young type 4;Pancreatic agenesis 1
★★☆☆2024→ Residue 225
NM_000209.4(PDX1):c.533A>C (p.Glu178Ala)Likely pathogenic
Maturity-onset diabetes of the young type 4
★☆☆☆2025→ Residue 178
NM_000209.4(PDX1):c.532G>A (p.Glu178Lys)Pathogenic
Pancreatic agenesis 1
★☆☆☆2025→ Residue 178
NM_000209.4(PDX1):c.494_497delinsAC (p.Phe165fs)Pathogenic
Familial Monogenic Diabetes (Maturity Onset Diabetes Of The Young 4)/Neonatal Diabetes Mellitus
★☆☆☆2025→ Residue 165
NM_000209.4(PDX1):c.54C>A (p.Cys18Ter)Likely pathogenic
not provided
★☆☆☆2024→ Residue 18
NM_000209.4(PDX1):c.735dup (p.Gly246fs)Likely pathogenic
Maturity-onset diabetes of the young type 4
★☆☆☆2023→ Residue 246
NM_000209.4(PDX1):c.488A>G (p.Lys163Arg)Likely pathogenic
PDX1-related disorder
★☆☆☆2023→ Residue 163
NM_000209.4(PDX1):c.653del (p.Gly218fs)Likely pathogenic
PDX1-related disorder
★☆☆☆2023→ Residue 218
NM_000209.4(PDX1):c.683_699del (p.Ala228fs)Likely pathogenic
not provided
★☆☆☆2019→ Residue 228
NM_000209.4(PDX1):c.502A>C (p.Asn168His)Likely pathogenic
Maturity-onset diabetes of the young type 4;Pancreatic agenesis 1
★☆☆☆2016→ Residue 168
NM_000209.4(PDX1):c.533A>G (p.Glu178Gly)Pathogenic
Pancreatic agenesis 1|Permanent neonatal diabetes mellitus|Pancreatic agenesis 1;Maturity-onset diabetes of the young type 4
★☆☆☆2016→ Residue 178
NM_000209.4(PDX1):c.442C>G (p.Arg148Gly)Likely pathogenic
Maturity-onset diabetes of the young type 4
★☆☆☆2011→ Residue 148
NM_000209.4(PDX1):c.571A>C (p.Lys191Gln)Likely pathogenic
Maturity-onset diabetes of the young type 4
★☆☆☆2011→ Residue 191
NM_000209.4(PDX1):c.492G>T (p.Glu164Asp)Pathogenic
Pancreatic agenesis 1|Diabetes mellitus type 2, susceptibility to
☆☆☆☆2003→ Residue 164
View on ClinVar ↗
Related Genes
PRKACBProtein interaction99%SPOPProtein interaction97%GCKProtein interaction97%INSProtein interaction97%PRKACGProtein interaction97%SLC2A2Protein interaction96%
Tissue Expression6 tissues
Liver
100%
Brain
3%
Ovary
0%
Heart
0%
Lung
0%
Bone Marrow
0%
Gene Interaction Network
Click a node to explore
PDX1PRKACBSPOPGCKINSPRKACGSLC2A2
PROTEIN STRUCTURE
Preparing viewer…
PDB7KPK · 1.71 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
1.64LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.91 [0.51–1.64]
RankingsWhere PDX1 stands among ~20K protein-coding genes
  • #2,127of 20,598
    Most Researched199 · top quartile
  • #2,496of 5,498
    Most Pathogenic Variants14
  • #15,854of 17,882
    Most Constrained (LOEUF)1.64
Genes detectedPDX1
Sources retrieved25 papers
Response time—
📄 Sources
25▼
1
RFX6 regulates human intestinal patterning and function upstream of PDX1.
PMID: 38587174
Development · 2024
1.00
2
TAZ promotes PDX1-mediated insulinogenesis.
PMID: 35279781
Cell Mol Life Sci · 2022
0.90
3
PDX1+ cell budding morphogenesis in a stem cell-derived islet spheroid system.
PMID: 39003281
Nat Commun · 2024
0.84
4
m
PMID: 31867565
Nat Metab · 2019
0.80
5
Soluble expression, purification, and secondary structure determination of human PDX1 transcription factor.
PMID: 33309974
Protein Expr Purif · 2021
0.70