Ensembl ID:
Human Orthologues:
Human Descriptions:
hepatocyte nuclear factor 4, alpha [Source:HGNC Symbol;Acc:5024]
hepatocyte nuclear factor 4, gamma [Source:HGNC Symbol;Acc:5026]
Mouse Orthologues:
Hnf4a, Hnf4g
Mouse Descriptions:
hepatic nuclear factor 4, alpha Gene [Source:MGI Symbol;Acc:MGI:109128]
hepatocyte nuclear factor 4, gamma Gene [Source:MGI Symbol;Acc:MGI:1353604]


There is 1 allele of this gene:

Allele name Consequence Status Availability Estimate
sa21135 Nonsense Mutation detected in F1 DNA During 2015

Mutation Details

Allele Name:
Current Status:
Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs.
We currently estimate that this allele will be available during 2015.
C > T
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000024443 Nonsense 56 463 2 19
Genomic Location:
Chromosome 7 (position 70190827)
KASP Assay ID:
2259-9786.1 (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
Flanking Sequence:
Associated Phenotype:
Not determined


This gene's human homologue has been identified in the following GWAS studies:

  • Body mass index: Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index. (View Study)
  • C-reactive protein: Genome-wide association and population genetic analysis of C-reactive protein in African American and Hispanic American women. (View Study)
  • C-reactive protein: Meta-analysis of genome-wide association studies in >80 000 subjects identifies multiple loci for C-reactive protein levels. (View Study)
  • Triglycerides: Biological, clinical and population relevance of 95 loci for blood lipids. (View Study)
  • Triglycerides: Common variants at 30 loci contribute to polygenic dyslipidemia. (View Study)
  • Type 2 diabetes: Genome-wide association study in individuals of South Asian ancestry identifies six new type 2 diabetes susceptibility loci. (View Study)
  • Type 2 diabetes: Meta-analysis of genome-wide association studies identifies eight new loci for type 2 diabetes in east Asians. (View Study)
  • Ulcerative colitis: Genome-wide association study of ulcerative colitis identifies three new susceptibility loci, including the HNF4A region. (View Study)
  • Ulcerative colitis: Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease. (View Study)
  • Urate levels: Genome-wide association analyses identify 18 new loci associated with serum urate concentrations. (View Study)

(GWAS data comes from http://www.genome.gov/gwastudies/.)


If you would like to be informed when the status of this gene changes (for example, a new allele is generated or an allele is made available for distribution) then please enter your details below:

* quick link - http://q.sanger.ac.uk/fduyuhle