HNF4A hepatocyte nuclear factor 4 alpha
Gene ID: 3172, updated on 28-Oct-2024Gene type: protein coding
Also known as: TCF; HNF4; MODY; FRTS4; MODY1; NR2A1; TCF14; HNF4a7; HNF4a8; HNF4a9; NR2A21; TCF-14; HNF4alpha
- See all available tests in GTR for this gene
- Go to complete Gene record for HNF4A
- Go to Variation Viewer for HNF4A variants
Summary
The protein encoded by this gene is a nuclear transcription factor which binds DNA as a homodimer. The encoded protein controls the expression of several genes, including hepatocyte nuclear factor 1 alpha, a transcription factor which regulates the expression of several hepatic genes. This gene may play a role in development of the liver, kidney, and intestines. Mutations in this gene have been associated with monogenic autosomal dominant non-insulin-dependent diabetes mellitus type I. Alternative splicing of this gene results in multiple transcript variants encoding several different isoforms. [provided by RefSeq, Apr 2012]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Biological, clinical and population relevance of 95 loci for blood lipids. GeneReviews: Not available | |
| Common variants at 30 loci contribute to polygenic dyslipidemia. GeneReviews: Not available | |
| Discovery and refinement of loci associated with lipid levels. GeneReviews: Not available | |
| Familial hyperinsulinism MedGen: C3888018GeneReviews: Nonsyndromic Genetic Hyperinsulinism Overview | See labs |
| Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young | See labs |
| 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 in individuals of South Asian ancestry identifies six new type 2 diabetes susceptibility loci. GeneReviews: Not available | |
| Genome-wide association study of ulcerative colitis identifies three new susceptibility loci, including the HNF4A region. GeneReviews: Not available | |
| Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility. GeneReviews: Not available | |
| Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease. GeneReviews: Not available | |
| Maturity-onset diabetes of the young type 1 | See labs |
| Meta-analysis of genome-wide association studies identifies eight new loci for type 2 diabetes in east Asians. GeneReviews: Not available | |
| Meta-analysis of genome-wide association studies in >80 000 subjects identifies multiple loci for C-reactive protein levels. GeneReviews: Not available | |
| Type 2 diabetes mellitus | See labs |
Genomic context
- Location:
- 20q13.12
- Sequence:
- Chromosome: 20; NC_000020.11 (44355699..44434596)
- Total number of exons:
- 15
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for HNF4A variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- Hepatocyte Nuclear Factor 4, alpha (HNF4A) @ 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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