FOXA3
Forkhead Box A3: A Key Transcriptional Regulator in Metabolic and Hepatic Function
Gene Information Card
| Symbol | FOXA3 |
|---|---|
| Full Name | Forkhead Box A3 |
| Gene Type | Protein coding |
| Chromosomal Location | 19q13.32 |
| NCBI Gene ID | 3171 ncbi.nlm.nih.gov/gene/3171 |
| Ensembl ID | ENSG00000170608 |
| UniProt ID | P55318 |
| OMIM ID | 602294 |
| HGNC ID | 5023 |
| Aliases | HNF3G, TCF3G |
Description
FOXA3 (Forkhead Box A3) is a member of the forkhead class of DNA-binding proteins. It functions as a transcription factor that plays a critical role in the development and function of the liver, pancreas, and other endoderm-derived tissues. FOXA3 binds to the promoters of target genes, regulating their expression in processes such as glucose metabolism, lipid homeostasis, and cell differentiation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Maturity-Onset Diabetes of the Young (MODY) | FOXA3 mutations may impair pancreatic beta-cell function and insulin secretion, contributing to MODY phenotype. | ClinVar, OMIM |
| Hepatic Steatosis | Altered FOXA3 expression disrupts lipid metabolism genes, leading to fat accumulation in the liver. | NCBI Gene, PubMed |
| Hepatocellular Carcinoma | FOXA3 dysregulation affects cell proliferation and differentiation pathways in liver cancer. | COSMIC, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 48.2 | High |
| Pancreas | 22.5 | Medium |
| Kidney | 10.1 | Low |
| Small Intestine | 8.3 | Low |
| Stomach | 6.7 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 35.4 | Hepatocellular carcinoma cell line |
| PANC-1 | 18.9 | Pancreatic ductal adenocarcinoma cell line |
| HEK293 | 2.1 | Embryonic kidney cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | Rare | Likely loss of function; associated with MODY |
| c.100C>T (p.Arg34Trp) | Missense | <0.01% | Reduced DNA binding affinity |
| c.250G>A (p.Gly84Ser) | Missense | <0.01% | Altered transcriptional activity |
Mutation functional classification
Loss of Function (LOF)
Mutations that disrupt DNA binding or nuclear localization, leading to reduced target gene activation.
Gain of Function (GOF)
Not well documented; rare variants may enhance transcriptional activity.
Dominant Negative (DN)
Some missense mutations may interfere with wild-type FOXA3 function in heterozygous state.
View complete mutation data：
Gene Ontology (GO)
| • DNA-binding transcription factor activity | • RNA polymerase II cis-regulatory region sequence-specific DNA binding |
| • chromatin binding | • nucleus |
| • regulation of transcription by RNA polymerase II | • liver development |
| • glucose homeostasis |
Pathways
• Hepatocyte differentiation
• Insulin signaling
• Lipid metabolism
• Endoderm development
Protein Summary
FOXA3 is a 48.5 kDa transcription factor containing a forkhead DNA-binding domain. It binds to the consensus sequence 5'-T[G/A]TTT[G/A]T-3' and acts as a pioneer factor, opening compacted chromatin to facilitate the binding of other transcription factors. FOXA3 is essential for the maintenance of hepatic and pancreatic gene expression programs.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| FOXA3 Knockout HEK293 Cell Line | EDJ-KQ4887 | Human | 3171 | Details Get a Quote |
| FOXA3 Knockout A-549 Cell Line | EDJ-KQ27697 | Human | 3171 | Details Get a Quote |
| FOXA3 Knockout HCT 116 Cell Line | EDJ-KQ27698 | Human | 3171 | Details Get a Quote |
| FOXA3 Knockout HeLa Cell Line | EDJ-KQ53537 | Human | 3171 | Details Get a Quote |
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