POMC Gene: Proopiomelanocortin – Function, Disease Associations, and Expression
Comprehensive biomedical overview of the POMC gene, including genomic context, protein function, associated diseases, tissue expression, and mutation landscape.
Gene Information Card
| Symbol | POMC |
|---|---|
| Full Name | Proopiomelanocortin |
| Gene Type | protein-coding |
| Chromosomal Location | 2p23.3 |
| NCBI Gene ID | 5443 ncbi.nlm.nih.gov/gene/5443 |
| Ensembl ID | ENSG00000115138 |
| UniProt ID | P01189 |
| OMIM ID | 176830 |
| HGNC ID | 9201 |
| Aliases | ACTH, MSH, LPH, POC, CLIP, NPP, POMC1 |
Description
The POMC gene encodes proopiomelanocortin, a precursor polypeptide that is cleaved by tissue-specific proteases to produce multiple bioactive peptides, including adrenocorticotropic hormone (ACTH), melanocyte-stimulating hormones (α-, β-, γ-MSH), and β-endorphin. These peptides regulate diverse physiological processes such as adrenal steroidogenesis, pigmentation, energy homeostasis, and pain modulation. Mutations in POMC lead to a rare syndrome characterized by early-onset obesity, adrenal insufficiency, and red hair pigmentation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Obesity, early-onset | Loss-of-function mutations in POMC impair production of α-MSH, leading to reduced melanocortin-4 receptor (MC4R) signaling in the hypothalamus, resulting in hyperphagia and severe obesity. | ClinVar, OMIM |
| Adrenal insufficiency (isolated glucocorticoid deficiency) | Deficiency of ACTH due to POMC mutations leads to impaired adrenal cortisol production, causing hypoglycemia, cholestasis, and increased susceptibility to infections. | OMIM, ClinVar |
| Red hair pigmentation (associated with POMC deficiency) | Lack of α-MSH signaling through MC1R in melanocytes results in red hair and fair skin. | OMIM, ClinVar |
| Proopiomelanocortin deficiency | Combined features of early-onset obesity, adrenal insufficiency, and red hair due to biallelic loss-of-function mutations in POMC. | OMIM, ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Pituitary | High | High |
| Hypothalamus | Moderate | Moderate |
| Skin | Low | Low |
| Adrenal gland | Low | Low |
| Placenta | Low | Low |
| Testis | Low | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | Low | Cervical carcinoma cell line; low expression |
| A549 | Low | Lung carcinoma; low expression |
| HepG2 | Low | Liver carcinoma; low expression |
| MCF7 | Low | Breast carcinoma; low expression |
| SH-SY5Y | Moderate | Neuroblastoma; moderate expression |
| SK-N-SH | Moderate | Neuroblastoma; moderate expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.706C>T (p.Arg236Cys) | Missense | Rare | Impairs POMC cleavage, leading to ACTH deficiency and obesity |
| c.713delC (p.Pro238LeufsTer5) | Frameshift | Rare | Premature truncation, loss of all POMC-derived peptides |
| c.433A>G (p.Lys145Glu) | Missense | Rare | Disrupts α-MSH production, associated with obesity |
| c.297_298delAG (p.Gly100AlafsTer) | Frameshift | Rare | Loss of function, causes POMC deficiency |
| c.1A>G (p.Met1Val) | Start codon loss | Rare | No protein translation, complete loss of function |
Mutation functional classification
Loss of Function (LOF)
Most POMC mutations are loss-of-function, leading to reduced or absent production of ACTH and α-MSH, causing adrenal insufficiency and obesity.
Gain of Function (GOF)
No gain-of-function mutations have been reported for POMC.
Dominant Negative (DN)
No dominant-negative effects have been described; POMC deficiency is typically autosomal recessive.
View complete mutation data：
Gene Ontology (GO)
| • GO:0005179 hormone activity | • GO:0005184 neuropeptide hormone activity |
| • GO:0005515 protein binding | • GO:0005576 extracellular region |
| • GO:0005615 extracellular space | • GO:0005886 plasma membrane |
| • GO:0007268 chemical synaptic transmission | • GO:0007218 neuropeptide signaling pathway |
| • GO:0007189 adenylate cyclase-activating G protein-coupled receptor signaling pathway | • GO:0032098 regulation of appetite |
| • GO:0042417 dopamine metabolic process | • GO:0045471 response to ethanol |
| • GO:0050890 cognition | • GO:0051384 response to glucocorticoid |
| • GO:0060079 excitatory postsynaptic potential | • GO:0071378 cellular response to corticotropin-releasing hormone stimulus |
Pathways
• Melanocortin system
• GPCR downstream signaling (MC4R
• MC1R)
• cAMP signaling pathway
• Regulation of energy homeostasis
• Proopiomelanocortin processing
• Corticotropin-releasing hormone signaling
Protein Summary
Proopiomelanocortin (POMC) is a 267-amino acid precursor protein primarily synthesized in the anterior pituitary, hypothalamus, and skin. It undergoes tissue-specific proteolytic cleavage by prohormone convertases (PC1/3 and PC2) to generate multiple bioactive peptides: ACTH, α-MSH, β-MSH, γ-MSH, β-endorphin, and β-lipotropin. These peptides act through melanocortin receptors (MC1R, MC2R, MC4R, MC5R) and opioid receptors to regulate pigmentation, adrenal steroidogenesis, energy balance, and pain perception. POMC is critical for the hypothalamic–pituitary–adrenal (HPA) axis and appetite regulation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| POMC Knockout HEK293 Cell Line | EDJ-KQ1109 | Human | 5443 | Details Get a Quote |
| POMC Knockout HeLa Cell Line | EDJ-KQ54173 | Human | 5443 | Details Get a Quote |
| POMC Knockout A-549 Cell Line | EDJ-KQ62670 | Human | 5443 | Details Get a Quote |
| POMC Knockout HCT 116 Cell Line | EDJ-KQ71137 | Human | 5443 | Details Get a Quote |
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