GENE REFERENCE / HGNC:9201

POMC

proopiomelanocortin

protein-coding gene2p23.3Gene information

What does this gene do?

The POMC gene provides instructions for making a protein called proopiomelanocortin (POMC), which is cut (cleaved) into smaller pieces called peptides that have different functions in the body. The peptides attach (bind) to one of several proteins in different regions of the body, and this binding triggers signaling pathways that control many important functions.

One peptide produced from the POMC protein is called adrenocorticotropic hormone (ACTH). ACTH binds to melanocortin 2 receptor (MC2R), stimulating the release of a hormone called cortisol. This hormone helps maintain blood sugar (glucose) levels, protects the body from stress, and stops (suppresses) inflammation.

Three similar peptides called alpha-, beta-, and gamma-melanocyte stimulating hormones (α-, β-, and γ-MSH) are also cut from the POMC protein. The primary role of α-MSH is in the pigment-producing cells of the skin and hair (melanocytes), where it binds to melanocortin 1 receptor (MC1R). This attachment stimulates the production and release of a pigment called melanin, which is the substance that gives skin and hair their color.

The β-MSH peptide plays a role in weight regulation by binding to melanocortin 4 receptor (MC4R). Signaling through this receptor in the brain helps maintain the balance between energy from food taken into the body and energy spent by the body. The correct balance is important to control eating and weight. The α-MSH peptide can also bind to MC4R and help maintain the correct energy balance.

Studies show that γ-MSH binds to melanocortin 3 receptor (MC3R). Signaling stimulated by this interaction appears to be involved in regulating the amount of sodium in the body and controlling blood pressure, although the mechanism is unclear.

Another peptide produced from POMC is β-endorphin. Attachment of β-endorphin to proteins in the brain called opioid receptors stimulates signaling for pain relief.

Source: MedlinePlus, National Library of Medicine. Source publication: 2023-07-25. Source review: 2014-02.

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: 252
Submissions for variants in or overlapping this gene: 422
Submissions explicitly reporting this gene: 383
Alleles reported pathogenic / likely pathogenic: 29
VariationIDs with uncertain significance: 138
VariationIDs with conflicting classifications: 12

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 POMC?

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 29 alleles in POMC 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 POMC.

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

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