AlphaFold predicted structure
HNF1B · P35680
Mean pLDDT
60.7/ 100
Low
557 residues
Confidence breakdown
- Very high(≥ 90)26%
- Confident(70–90)10%
- Low(50–70)7%
- Very low(< 50)57%
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AlphaFold (Jumper et al., 2021) · CC BY 4.0
HNF1B
Chr 17q12HNF1 homeobox B
- Aliases:
- LFB3, VHNF1, HNF1beta, MODY5, HNF1β
- MANE:
- ENST00000617811.5
Annotations refreshed 1 month ago.
Predicted protein structure
Clinical relevance (Genomics England PanelApp)
Diagnostic Grade (Green)
CAKUT
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedCholestasis
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedCystic kidney disease
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 imprinted
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Disease associations (Open Targets)
renal cysts and diabetes syndrome
0.85type 2 diabetes mellitus
0.77maturity-onset diabetes of the young
0.68nonpapillary renal cell carcinoma
0.68MODY
0.67diabetes mellitus
0.60prostate carcinoma
0.49neurodegenerative disease
0.49renal cell carcinoma
0.49hereditary clear cell renal cell carcinoma
0.49
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein function (UniProt)
Hepatocyte nuclear factor 1-beta
Transcription factor that binds to the inverted palindrome 5'-GTTAATNATTAAC-3' (PubMed:17924661, PubMed:7900999). Binds to the FPC element in the cAMP regulatory unit of the PLAU gene (By similarity). Transcriptional activity is increased by coactivator PCBD1 (PubMed:24204001)
Diseases associated with HNF1B
Curated MONDO disease pages that list HNF1B among their top associated genes.