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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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FOXA3
forkhead box A3
Chromosome 19 · 19q13.32
NCBI Gene: 3171Ensembl: ENSG00000170608.4HGNC: HGNC:5023UniProt: P55318
38PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Transcription Factor
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
positive regulation of transcription by RNA polymerase IInucleoplasmsequence-specific double-stranded DNA bindingDNA-binding transcription factor activityneurodegenerative diseasedementiahepatocellular carcinomaasthma
✦AI Summary

FOXA3 (forkhead box A3) is a transcription factor that functions as a 'pioneer' factor, opening compacted chr19 for other proteins by interacting with nucleosomal core histones 1. FOXA3 plays critical roles in metabolic homeostasis and liver development, with expression patterns defining pancreatic progenitor tumors that preferentially express early pancreatic developmental genes including FOXA3 2. The protein can be successfully used for direct reprogramming of human fibroblasts to functional hepatocytes when co-expressed with HNF1A and HNF4A 3. In disease contexts, FOXA3 contributes significantly to non-alcoholic fatty liver disease (NAFLD) progression through an XBP1s-FOXA3-PER1/SREBP1c transcriptional axis that enhances lipid synthesis under endoplasmic reticulum stress 4. FOXA3 also regulates cholesterol metabolism in metastatic lung adenocarcinoma by transcriptionally activating HMGCS1, promoting endogenous cholesterol biosynthesis essential for cancer cell migration 5. Additionally, FOXA3 serves as a key transcription factor for the iCMS3 colorectal cancer subtype 6. Genetic variants in FOXA3, particularly rs28666870, are associated with metabolic traits including body mass index and lean body mass in humans 7.

Sources cited
1
FOXA3 functions as a 'pioneer' transcription factor opening compacted chromatin
PMID: 15492844
2
FOXA3 expression defines pancreatic progenitor tumor subtype
PMID: 26909576
3
FOXA3 can reprogram human fibroblasts to hepatocytes with HNF1A and HNF4A
PMID: 24582927
4
FOXA3 contributes to NAFLD through XBP1s-FOXA3-PER1/SREBP1c transcriptional axis
PMID: 33548387
5
FOXA3 regulates cholesterol metabolism in lung adenocarcinoma metastasis
PMID: 38805565
6
FOXA3 is a key transcription factor for iCMS3 colorectal cancer subtype
PMID: 38445965
7
FOXA3 genetic variants are associated with metabolic traits in humans
PMID: 25672906
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.46Moderate
dementiaOpen Targets
0.10Suggestive
hepatocellular carcinomaOpen Targets
0.10Suggestive
asthmaOpen Targets
0.09Suggestive
esophageal squamous cell carcinomaOpen Targets
0.09Suggestive
Pallister-Hall syndromeOpen Targets
0.07Suggestive
cholangiocarcinomaOpen Targets
0.07Suggestive
Barrett's esophagusOpen Targets
0.07Suggestive
spinal stenosisOpen Targets
0.07Suggestive
myocardial infarctionOpen Targets
0.06Suggestive
COVID-19Open Targets
0.06Suggestive
cholelithiasisOpen Targets
0.06Suggestive
biliary atresiaOpen Targets
0.06Suggestive
obesityOpen Targets
0.06Suggestive
inflammatory bowel diseaseOpen Targets
0.06Suggestive
gallstonesOpen Targets
0.05Suggestive
ulcerative colitisOpen Targets
0.05Suggestive
gallbladder diseaseOpen Targets
0.05Suggestive
esophageal adenocarcinomaOpen Targets
0.05Suggestive
CIDEC-related familial partial lipodystrophyOpen Targets
0.04Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
HNF1AProtein interaction85%GATA4Protein interaction80%FOXA1Protein interaction80%FOXL3Shared pathway50%FOXD4L5Shared pathway50%FOXD4L6Shared pathway50%
Tissue Expression6 tissues
Liver
100%
Lung
0%
Ovary
0%
Brain
0%
Heart
0%
Bone Marrow
0%
Gene Interaction Network
Click a node to explore
FOXA3HNF1AGATA4FOXA1FOXL3FOXD4L5FOXD4L6
PROTEIN STRUCTURE
Preparing viewer…
PDB1VTN · 2.50 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
1.05LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.63 [0.40–1.05]
RankingsWhere FOXA3 stands among ~20K protein-coding genes
  • #10,481of 20,598
    Most Researched38
  • #10,474of 17,882
    Most Constrained (LOEUF)1.05
Genes detectedFOXA3
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Genomic analyses identify molecular subtypes of pancreatic cancer.
PMID: 26909576
Nature · 2016
1.00
2
Human FOX gene family (Review).
PMID: 15492844
Int J Oncol · 2004
0.90
3
FOXA3 induction under endoplasmic reticulum stress contributes to non-alcoholic fatty liver disease.
PMID: 33548387
J Hepatol · 2021
0.80
4
Direct reprogramming of human fibroblasts to functional and expandable hepatocytes.
PMID: 24582927
Cell Stem Cell · 2014
0.70
5
scLiverDB: a Database of Human and Mouse Liver Transcriptome Landscapes at Single-Cell Resolution.
PMID: 37259264
Small Methods · 2023
0.60