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GeneE
50 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
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HNF4A
hepatocyte nuclear factor 4 alpha
Chromosome 20 Β· 20q13.12
NCBI Gene: 3172Ensembl: ENSG00000101076.20HGNC: HGNC:5024UniProt: B9VVT8
592PubMed Papers
23Diseases
1Drugs
157Pathogenic Variants
FUNCTIONAL ROLE
Hub GeneReceptorTranscription Factor
RESEARCH IMPACT
Highly StudiedTrendingVariant-Rich
CLINICAL
FDA Approved TargetOMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
negative regulation of DNA-templated transcriptionxenobiotic metabolic processblood coagulationlipid homeostasisMODYtype 2 diabetes mellitusrenal cysts and diabetes syndromematurity-onset diabetes of the young
✦AI Summary

HNF4A is a ligand-binding transcriptional regulator that controls hepatic gene expression and maintains metabolic homeostasis across multiple tissues 1. In hepatocytes, HNF4A recruits RNA polymerase II to target gene promoters and represses CLOCK-BMAL1 activity, essential for circadian rhythm regulation 12. HNF4A exhibits tissue-specific functions: in human proximal tubules, it directly regulates transport, endocytosis, and brush border genes critical for electrolyte reabsorption 3, while in pancreatic beta cells and hepatocytes, it binds and regulates distinct gene sets including metabolic regulators and HAAO 4. Loss-of-function HNF4A variants cause maturity-onset diabetes of the young (MODY1), characterized by reduced penetrance (32-98% depending on clinical setting) 56. Type 2 diabetes-associated variants like rs1800961 alter DNA-binding affinity and transcriptional outcomes 47. HNF4A also associates with neuroendocrine carcinomas, defining a distinct molecular subtype with gastrointestinal characteristics 8. Therapeutically, HNF4A mRNA delivery via lipid nanoparticles restores hepatocyte function and attenuates liver fibrosis through paraoxonase 1-mediated mechanisms 9. These findings establish HNF4A as a pleiotropic regulator with precision medicine implications for monogenic and metabolic diseases.

Sources cited
1
HNF4A recruits RNA polymerase II to hepatic gene promoters during hepatic cell development
PMID: 30597922
2
HNF4A represses CLOCK-BMAL1 activity and is essential for circadian rhythm maintenance in liver and colon
PMID: 30530698
3
HNF4A directly regulates transport, endocytosis, and brush border genes in human proximal tubules
PMID: 37488681
4
HNF4A exhibits tissue-specific binding and regulation of target genes in pancreatic beta cells and hepatocytes; rs1800961 variant alters DNA-binding affinity
PMID: 38909044
5
HNF4A pathogenic variants show reduced penetrance (32-98%) in clinically unselected populations compared to referred probands
PMID: 36257325
6
HNF4A mutations cause MODY with distinct treatment implications requiring genetic diagnosis
PMID: 33529164
7
HNF-1A regulates HNF4A expression through promoter-binding mechanisms; variants in HNF4A promoter cause MODY
PMID: 38855865
8
HNF4A mRNA delivery attenuates liver fibrosis via paraoxonase 1 modulation of liver macrophages and hepatic stellate cells
PMID: 34453962
9
HNF4A defines a molecular subtype of neuroendocrine carcinomas with gastrointestinal-like signature and poor chemotherapeutic response
PMID: 38788718
Disease Associationsβ“˜23
MODYOpen Targets
0.83Strong
type 2 diabetes mellitusOpen Targets
0.78Strong
renal cysts and diabetes syndromeOpen Targets
0.75Strong
maturity-onset diabetes of the youngOpen Targets
0.69Moderate
monogenic diabetesOpen Targets
0.68Moderate
diabetes mellitusOpen Targets
0.66Moderate
cholelithiasisOpen Targets
0.53Moderate
gallstonesOpen Targets
0.49Moderate
CholecystitisOpen Targets
0.47Moderate
Intrahepatic cholestasis of pregnancyOpen Targets
0.47Moderate
gastrointestinal diseaseOpen Targets
0.46Moderate
hyperinsulinism due to HNF4A deficiencyOpen Targets
0.45Moderate
metabolic syndromeOpen Targets
0.44Moderate
alcohol drinkingOpen Targets
0.42Moderate
hyperinsulinemic hypoglycemia, familial, 2Open Targets
0.42Moderate
HyperinsulinemiaOpen Targets
0.40Moderate
cervical carcinomaOpen Targets
0.40Weak
goutOpen Targets
0.38Weak
maturity-onset diabetes of the young type 3Open Targets
0.35Weak
liver diseaseOpen Targets
0.35Weak
Fanconi renotubular syndrome 4 with maturity-onset diabetes of the youngUniProt
Maturity-onset diabetes of the young 1UniProt
Type 2 diabetes mellitusUniProt
Pathogenic Variants157
NM_175914.5(HNF4A):c.1310C>T (p.Pro437Leu)Likely pathogenic
Monogenic diabetes|not provided
β˜…β˜…β˜…β˜†2025β†’ Residue 437
NM_175914.5(HNF4A):c.224G>A (p.Arg75Lys)Likely pathogenic
Maturity-onset diabetes of the young type 1|Maturity-onset diabetes of the young|Monogenic diabetes
β˜…β˜…β˜…β˜†2025β†’ Residue 75
Single allelePathogenic
Monogenic diabetes
β˜…β˜…β˜…β˜†2025
NM_175914.5(HNF4A):c.-181G>APathogenic
Maturity-onset diabetes of the young type 1|Monogenic diabetes|HNF4A-related disorder
β˜…β˜…β˜…β˜†2025
Single alleleLikely pathogenic
Monogenic diabetes
β˜…β˜…β˜…β˜†2025
NM_175914.5(HNF4A):c.145C>T (p.His49Tyr)Pathogenic
not provided|Monogenic diabetes
β˜…β˜…β˜…β˜†2025β†’ Residue 49
Single allelePathogenic
Monogenic diabetes
β˜…β˜…β˜…β˜†2025
Single allelePathogenic
Monogenic diabetes
β˜…β˜…β˜…β˜†2025
NC_000020.11:g.44355659T>CLikely pathogenic
HNF4A-related disorder|Monogenic diabetes
β˜…β˜…β˜…β˜†2025
NM_175914.5(HNF4A):c.535T>C (p.Trp179Arg)Likely pathogenic
Monogenic diabetes
β˜…β˜…β˜…β˜†2025β†’ Residue 179
NM_175914.5(HNF4A):c.537G>C (p.Trp179Cys)Likely pathogenic
Maturity-onset diabetes of the young type 1|Monogenic diabetes
β˜…β˜…β˜…β˜†2025β†’ Residue 179
NM_175914.5(HNF4A):c.-12G>ALikely pathogenic
Monogenic diabetes
β˜…β˜…β˜…β˜†2025
NM_175914.5(HNF4A):c.1A>T (p.Met1Leu)Likely pathogenic
Monogenic diabetes
β˜…β˜…β˜…β˜†2025β†’ Residue 1
NM_175914.5(HNF4A):c.1033G>C (p.Asp345His)Likely pathogenic
Monogenic diabetes
β˜…β˜…β˜…β˜†2025β†’ Residue 345
NM_175914.5(HNF4A):c.734G>C (p.Arg245Pro)Likely pathogenic
Monogenic diabetes
β˜…β˜…β˜…β˜†2025β†’ Residue 245
NM_175914.5(HNF4A):c.1033G>T (p.Asp345Tyr)Likely pathogenic
Maturity-onset diabetes of the young type 1|Monogenic diabetes
β˜…β˜…β˜…β˜†2025β†’ Residue 345
NM_175914.5(HNF4A):c.1256C>G (p.Ser419Ter)Pathogenic
Monogenic diabetes
β˜…β˜…β˜…β˜†2024β†’ Residue 419
NM_175914.5(HNF4A):c.914dup (p.Tyr306fs)Pathogenic
Monogenic diabetes
β˜…β˜…β˜…β˜†2024β†’ Residue 306
NM_175914.5(HNF4A):c.994C>T (p.Gln332Ter)Likely pathogenic
Monogenic diabetes|not provided
β˜…β˜…β˜…β˜†2024β†’ Residue 332
NM_175914.5(HNF4A):c.1061del (p.Gly354fs)Likely pathogenic
Monogenic diabetes
β˜…β˜…β˜…β˜†2024β†’ Residue 354
View on ClinVar β†—
Drug Targets1
ALVERINEApproved
Hepatocyte nuclear factor 4-alpha activator
gastrointestinal disease
Related Genes
PYGO1Protein interaction100%PYGO2Protein interaction100%GSK3BProtein interaction100%AXIN1Protein interaction100%AXIN2Protein interaction100%NCOA1Protein interaction100%
Tissue Expression6 tissues
Liver
100%
Brain
0%
Ovary
0%
Lung
0%
Bone Marrow
0%
Heart
0%
Gene Interaction Network
Click a node to explore
HNF4APYGO1PYGO2GSK3BAXIN1AXIN2NCOA1
PROTEIN STRUCTURE
Preparing viewer…
PDB3CBB Β· 2.00 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.44Moderately Constrained
pLIβ“˜
1.00Intolerant
Observed/Expected LoF0.29 [0.19–0.44]
RankingsWhere HNF4A stands among ~20K protein-coding genes
  • #399of 20,598
    Most Researched592 Β· top 5%
  • #737of 1,025
    FDA-Approved Drug Targets1
  • #479of 5,498
    Most Pathogenic Variants157 Β· top 10%
  • #2,389of 17,882
    Most Constrained (LOEUF)0.44 Β· top quartile
Genes detectedHNF4A
Sources retrieved50 papers
Response timeβ€”
πŸ“„ Sources
50β–Ό
1
Elucidating the Proximal Tubule HNF4A Gene Regulatory Network in Human Kidney Organoids.
PMID: 37488681
J Am Soc Nephrol Β· 2023
1.00
2
Reduced penetrance of MODY-associated HNF1A/HNF4A variants but not GCK variants in clinically unselected cohorts.
PMID: 36257325
Am J Hum Genet Β· 2022
0.90
3
Decreased lncRNA HNF4A-AS1 facilitates resistance to sorafenib-induced ferroptosis of hepatocellular carcinoma by reprogramming lipid metabolism.
PMID: 39629121
Theranostics Β· 2024
0.84
4
Loss of colonic fidelity enables multilineage plasticity and metastasis.
PMID: 40468074
Nature Β· 2025
0.82
5
HNF4A and HNF1A exhibit tissue specific target gene regulation in pancreatic beta cells and hepatocytes.
PMID: 38909044
Nat Commun Β· 2024
0.80