GENE REFERENCE / HGNC:11621

HNF1A

HNF1 homeobox A

protein-coding gene12q24.31Gene information

What does this gene do?

The HNF1A gene provides instructions for making a protein called hepatocyte nuclear factor-1 alpha (HNF-1α). The HNF-1α protein acts as a transcription factor, which means it attaches (binds) to specific regions of DNA and helps control the activity of certain genes. While this protein is found in several tissues and organs, it seems to be especially important in the pancreas and liver.

Regulation of gene activity by the HNF-1α protein is critical for the growth and development 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-1α protein also controls genes involved in liver development. By controlling genes that regulate cell growth and survival, the HNF-1α protein is thought to act as a tumor suppressor, which means that it helps prevent cells from growing and dividing too rapidly or in an uncontrolled way.

The structure of HNF-1α includes several important regions that help it carry out its functions. One of the regions, called the dimerization domain, is critical for protein interactions. This region allows HNF-1α proteins to interact with each other or with other proteins that have a similar structure, 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: 2023-07-19. 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 2018-10-05	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: 1,307
Submissions for variants in or overlapping this gene: 3,136
Submissions explicitly reporting this gene: 3,063
Alleles reported pathogenic / likely pathogenic: 407
VariationIDs with uncertain significance: 455
VariationIDs with conflicting classifications: 80

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 HNF1A?

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 407 alleles in HNF1A 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 HNF1A.

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

Buy BioDecode See a sample report →Check file compatibility →