HNF1A HNF1 homeobox A
Gene ID: 6927, updated on 20-Apr-2024Gene type: protein coding
Also known as: HNF1; LFB1; TCF1; HNF4A; MODY3; TCF-1; HNF-1A; IDDM20; HNF1alpha; HNF-1-alpha
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- Go to complete Gene record for HNF1A
- Go to Variation Viewer for HNF1A variants
Summary
The protein encoded by this gene is a transcription factor required for the expression of several liver-specific genes. The encoded protein functions as a homodimer and binds to the inverted palindrome 5'-GTTAATNATTAAC-3'. Defects in this gene are a cause of maturity onset diabetes of the young type 3 (MODY3) and also can result in the appearance of hepatic adenomas. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Apr 2015]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Are C-reactive protein associated genetic variants associated with serum levels and retinal markers of microvascular pathology in Asian populations from Singapore? GeneReviews: Not available | |
| Biological, clinical and population relevance of 95 loci for blood lipids. GeneReviews: Not available | |
| Common genetic loci influencing plasma homocysteine concentrations and their effect on risk of coronary artery disease. GeneReviews: Not available | |
| Common variants at 30 loci contribute to polygenic dyslipidemia. GeneReviews: Not available | |
| Diabetes mellitus type 1 | See labs |
| Discovery and refinement of loci associated with lipid levels. GeneReviews: Not available | |
| Genetic associations with C-reactive protein level and white blood cell count in the KARE study. GeneReviews: Not available | |
| Genetic Loci associated with C-reactive protein levels and risk of coronary heart disease. GeneReviews: Not available | |
| Genetic Loci Associated with Circulating Levels of Very Long-Chain Saturated Fatty Acids. GeneReviews: Not available | |
| Genome-wide association analyses identify 18 new loci associated with serum urate concentrations. GeneReviews: Not available | |
| Genome-wide association analysis of blood biomarkers in chronic obstructive pulmonary disease. GeneReviews: Not available | |
| Genome-wide association and population genetic analysis of C-reactive protein in African American and Hispanic American women. GeneReviews: Not available | |
| Genome-wide association study for C-reactive protein levels identified pleiotropic associations in the IL6 locus. GeneReviews: Not available | |
| Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma. GeneReviews: Not available | |
| Genome-wide association study of type 2 diabetes in a sample from Mexico City and a meta-analysis of a Mexican-American sample from Starr County, Texas. GeneReviews: Not available | |
| Genome-wide association with C-reactive protein levels in CLHNS: evidence for the CRP and HNF1A loci and their interaction with exposure to a pathogenic environment. GeneReviews: Not available | |
| Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility. GeneReviews: Not available | |
| Genomics meets glycomics-the first GWAS study of human N-Glycome identifies HNF1α as a master regulator of plasma protein fucosylation. GeneReviews: Not available | |
| Hepatic adenomas, familial | See labs |
| Joint influence of small-effect genetic variants on human longevity. GeneReviews: Not available | |
| Large-scale genome-wide association studies in East Asians identify new genetic loci influencing metabolic traits. GeneReviews: Not available | |
| Loci affecting gamma-glutamyl transferase in adults and adolescents show age × SNP interaction and cardiometabolic disease associations. GeneReviews: Not available | |
| Loci related to metabolic-syndrome pathways including LEPR,HNF1A, IL6R, and GCKR associate with plasma C-reactive protein: the Women's Genome Health Study. GeneReviews: Not available | |
| Maturity-onset diabetes of the young type 3 | See labs |
| Meta-analysis of genome-wide association studies in >80 000 subjects identifies multiple loci for C-reactive protein levels. GeneReviews: Not available | |
| New susceptibility locus for coronary artery disease on chromosome 3q22.3. GeneReviews: Not available | |
| New variants including ARG1 polymorphisms associated with C-reactive protein levels identified by genome-wide association and pathway analysis. GeneReviews: Not available | |
| Nonpapillary renal cell carcinoma | See labs |
| Polymorphisms of the HNF1A gene encoding hepatocyte nuclear factor-1 alpha are associated with C-reactive protein. GeneReviews: Not available | |
| Population-based genome-wide association studies reveal six loci influencing plasma levels of liver enzymes. GeneReviews: Not available | |
| Twelve type 2 diabetes susceptibility loci identified through large-scale association analysis. GeneReviews: Not available | |
| Type 1 diabetes mellitus 20 | See labs |
| Type 2 diabetes mellitus | See labs |
Copy number response
| Description |
|---|
| Copy number response Triplosensitivity No evidence available (Last evaluated 2023-12-13) ClinGen Genome Curation PageHaploinsufficency Sufficient evidence for dosage pathogenicity (Last evaluated 2023-12-13) ClinGen Genome Curation PagePubMed |
Genomic context
- Location:
- 12q24.31
- Sequence:
- Chromosome: 12; NC_000012.12 (120978543..121002512)
- Total number of exons:
- 9
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for HNF1A variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- HNF1 homeobox A (HNF1A) @ LOVD
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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