GENE REFERENCE / HGNC:5024

HNF4A

hepatocyte nuclear factor 4 alpha

protein-coding gene20q13.12Gene information

What does this gene do?

The HNF4A gene provides instructions for making a protein called hepatocyte nuclear factor-4 alpha (HNF-4α). This protein plays an important role in the function of certain tissues and organs in the body. The HNF-4α protein acts as a transcription factor, which means it attaches (binds) to specific regions of DNA and helps control the activity of particular genes.

The HNF-4α protein controls genes that are especially important for development and function of beta cells in the pancreas. Beta cells produce and release (secrete) the hormone insulin. Insulin helps regulate blood sugar levels by controlling how much sugar (in the form of glucose) is passed from the bloodstream into cells to be used as energy. The HNF-4α protein also controls genes involved in normal liver functions.

The structure of the HNF-4α protein includes several important regions. One of the regions, called the dimerization domain, is critical for protein interactions. This region allows molecules of HNF-4α to interact with each other, creating a two-protein unit (dimer) that functions as a transcription factor. Another region, known as the DNA binding domain, binds to specific areas of DNA, allowing the dimer to control gene activity.

Source: MedlinePlus, National Library of Medicine. Source publication: 2020-08-18. Source review: 2020-07.

ClinGen reviews

ClinGen reviews the evidence linking a particular gene to a condition. Each rating below describes the strength of that link. It does not classify a variant in your DNA file.

Condition	Inheritance	Evidence
monogenic diabetesMONDO:0015967 · Evaluated 2019-02-27	Autosomal dominant	DefinitiveMonogenic Diabetes Gene Curation Expert Panel

ClinVar records

These numbers show what has been submitted to ClinVar. They cannot tell you how likely you are to have a condition.

Submitted alleles: 813
Submissions for variants in or overlapping this gene: 1,947
Submissions explicitly reporting this gene: 1,907
Alleles reported pathogenic / likely pathogenic: 178
VariationIDs with uncertain significance: 289
VariationIDs with conflicting classifications: 101

The rows count different things: alleles, submissions or VariationIDs. Their categories can overlap, so do not add them together. Pathogenic/likely pathogenic counts exclude structural variants that merely overlap a gene. A dash in the source means “not reported,” not zero.

NCBI produces the gene-summary file each week using counts recorded at the start of the month. The numbers may differ from those on the live ClinVar website. Read the field definitions ↗

View this gene in ClinVar ↗

YOUR DNA FILE

Can your DNA file tell you about HNF4A?

From a DNA test kit (such as 23andMe, AncestryDNA or MyHeritage). These kits check a fixed list of about 600,000 to 700,000 positions across your whole genome. ClinVar lists 178 alleles in HNF4A reported as pathogenic or likely pathogenic. A kit checks only some of these positions, and often none of them.

From whole genome sequencing (a VCF file). Sequencing reads most of your genome. Your file lists the places where your DNA differs from the reference genome. Some regions are hard to sequence, including parts of some genes that have near-identical copies elsewhere, and a VCF file does not record which positions were read well.

If a variant is not in your file, that does not mean you don’t have it.

What BioDecode checks

BioDecode compares every variant in your file with ClinVar, on your own computer. For each match, it shows the ClinVar classification, the review status and the condition it was reported for. Your file is not uploaded.

A ClinVar classification applies to one particular variant and the condition it was reported for. It does not tell you about other variants in HNF4A.

BioDecode cannot fill gaps in your test, diagnose a condition or replace clinical testing.

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