GENE REFERENCE / HGNC:1966

CHRNE

cholinergic receptor nicotinic epsilon subunit

protein-coding gene17p13.2Gene information

What does this gene do?

The CHRNE gene provides instructions for making the epsilon (ε) component (subunit) of the acetylcholine receptor (AChR) protein. The AChR protein consists of five subunits, each of which is produced from a different gene.

The AChR protein is found on the surface of skeletal muscle cells, which are used to move the body. The AChR protein plays a critical role in the neuromuscular junction, which is the area between nerve and muscle cells where cell signaling occurs. Signaling between nerve and muscle cells is necessary for movement.

The AChR protein subunits assemble into the protein in the endoplasmic reticulum, a cell structure involved in protein processing and transport. The AChR protein is then transported to the cell surface. There are two major forms of the AChR protein: a fetal type that is present before birth and an adult type. The ε subunit is found only in the adult AChR protein. At about the 33rd week of pregnancy, the ε subunit replaces the gamma (γ) subunit (which is found only in the fetal type of AChR) to form the adult AChR protein.

Source: MedlinePlus, National Library of Medicine. Source publication: 2026-02-13. Source review: 2026-02.

ClinGen reviews

We found no matching ClinGen review in the data used here. This does not rule out a link between the gene and a condition.

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: 1,535
Submissions for variants in or overlapping this gene: 2,669
Submissions explicitly reporting this gene: 2,618
Alleles reported pathogenic / likely pathogenic: 295
VariationIDs with uncertain significance: 466
VariationIDs with conflicting classifications: 71

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 CHRNE?

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 295 alleles in CHRNE 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 CHRNE.

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

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