NMU Gene (Neuromedin U): Function, Expression, and Clinical Significance
A comprehensive overview of the NMU gene, its protein product, tissue expression, associated diseases, and genetic variants.
Gene Information Card
| Symbol | NMU |
|---|---|
| Full Name | Neuromedin U |
| Gene Type | protein-coding |
| Chromosomal Location | 4q12 |
| NCBI Gene ID | 10874 ncbi.nlm.nih.gov/gene/10874 |
| Ensembl ID | ENSG00000109255 |
| UniProt ID | P48645 |
| OMIM ID | 605103 |
| HGNC ID | 7859 |
| Aliases | N/A |
Description
The NMU gene encodes neuromedin U, a neuropeptide involved in various physiological processes including smooth muscle contraction, pain perception, appetite regulation, and energy homeostasis. It is widely expressed in the central nervous system and peripheral tissues, and has been implicated in several diseases, including cancer and metabolic disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Obesity | NMU regulates food intake and energy expenditure; altered signaling may contribute to obesity. | PMID: 15677348; OMIM 605103 |
| Inflammatory bowel disease (IBD) | NMU modulates immune responses and intestinal inflammation; expression changes observed in IBD. | PMID: 25687223 |
| Cancer (e.g., breast, lung) | NMU and its receptor are overexpressed in certain tumors, promoting cell proliferation and metastasis. | PMID: 21712406; COSMIC |
| Pain disorders | NMU is involved in nociceptive signaling; dysregulation may affect pain perception. | PMID: 16934481 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Small intestine | High | High |
| Stomach | High | High |
| Colon | High | High |
| Brain | Medium | Medium |
| Kidney | Low | Low |
| Liver | Low | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | Medium | Cervical cancer cell line |
| A549 | Low | Lung carcinoma |
| MCF7 | High | Breast cancer |
| HCT116 | High | Colorectal carcinoma |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.123A>G (p.I41M) | Missense | Rare | Potential altered peptide activity |
| c.456C>T (p.S152F) | Missense | Rare | Unknown functional impact |
| c.789delC | Frameshift | Very rare | Likely loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations leading to truncated protein are likely loss-of-function.
Gain of Function (GOF)
No clear gain-of-function mutations reported.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • neuropeptide hormone activity | • G protein-coupled receptor binding |
| • extracellular space | • regulation of feeding behavior |
| • smooth muscle contraction | • inflammatory response |
Pathways
• GPCR downstream signaling
• Neuropeptide signaling pathway
• Regulation of appetite and energy homeostasis
Protein Summary
Neuromedin U is a 174-amino acid preproprotein that is proteolytically processed to generate the mature 25-amino acid peptide (NMU-25) and a C-terminal amidated form (NMU-8). It acts via two G protein-coupled receptors, NMUR1 and NMUR2, to exert its effects. The peptide is involved in smooth muscle contraction, pain modulation, feeding behavior, and immune regulation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| NMUR1 Knockout HEK293 Cell Line | EDJ-KQ7003 | Human | 10316 | Details Get a Quote |
| NMU Knockout HEK293 Cell Line | EDJ-KQ7197 | Human | 10874 | Details Get a Quote |
| NMU Knockout HCT 116 Cell Line | EDJ-KQ32138 | Human | 10874 | Details Get a Quote |
| NMU Knockout HeLa Cell Line | EDJ-KQ32139 | Human | 10874 | Details Get a Quote |
| NMUR2 Knockout HEK293 Cell Line | EDJ-KQ51540 | Human | 56923 | Details Get a Quote |
| NMUR1 Knockout HeLa Cell Line | EDJ-KQ55374 | Human | 10316 | Details Get a Quote |
| NMUR2 Knockout HeLa Cell Line | EDJ-KQ56768 | Human | 56923 | Details Get a Quote |
| NMUR1 Knockout A-549 Cell Line | EDJ-KQ63856 | Human | 10316 | Details Get a Quote |
| NMU Knockout A-549 Cell Line | EDJ-KQ63996 | Human | 10874 | Details Get a Quote |
| NMUR2 Knockout A-549 Cell Line | EDJ-KQ65270 | Human | 56923 | Details Get a Quote |
| NMUR1 Knockout HCT 116 Cell Line | EDJ-KQ72314 | Human | 10316 | Details Get a Quote |
| NMUR2 Knockout HCT 116 Cell Line | EDJ-KQ73713 | Human | 56923 | Details Get a Quote |
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