AlphaFold predicted structure
HNF4A · P41235
Mean pLDDT
73.9/ 100
Confident
474 residues
Confidence breakdown
- Very high(≥ 90)55%
- Confident(70–90)8%
- Low(50–70)5%
- Very low(< 50)32%
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AlphaFold (Jumper et al., 2021) · CC BY 4.0
HNF4A
Chr 20q13.12hepatocyte nuclear factor 4 alpha
- Aliases:
- NR2A1, HNF4
- MANE:
- ENST00000316673.9
Annotations refreshed 1 month ago.
Predicted protein structure
Clinical relevance (Genomics England PanelApp)
Diagnostic Grade (Green)
Congenital hyperinsulinism
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownDDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownDiabetes with additional phenotypes suggestive of a monogenic aetiology
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedFamilial diabetes
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedFetal anomalies
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownMonogenic diabetes
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedNephrocalcinosis or nephrolithiasis
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownRenal tubulopathies
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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Disease associations (Open Targets)
MODY
0.82type 2 diabetes mellitus
0.76renal cysts and diabetes syndrome
0.74maturity-onset diabetes of the young
0.69monogenic diabetes
0.68diabetes mellitus
0.64cholelithiasis
0.52gallstones
0.48Intrahepatic cholestasis of pregnancy
0.47gastrointestinal disease
0.46
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein function (UniProt)
Hepatocyte nuclear factor 4-alpha
Transcriptional regulator which controls the expression of hepatic genes during the transition of endodermal cells to hepatic progenitor cells, facilitating the recruitment of RNA pol II to the promoters of target genes (PubMed:30597922). Activates the transcription of CYP2C38 (By similarity). Represses the CLOCK-BMAL1 transcriptional activity and is essential for circadian rhythm maintenance and period regulation in the liver and colon cells (PubMed:30530698)
Diseases associated with HNF4A
Curated MONDO disease pages that list HNF4A among their top associated genes.