NMBR (Neuromedin B Receptor) Gene
Comprehensive genomic and functional analysis of the neuromedin B receptor gene
Gene Information Card
| Symbol | NMBR |
|---|---|
| Full Name | neuromedin B receptor |
| Gene Type | protein-coding |
| Chromosomal Location | 6q24.1 |
| NCBI Gene ID | 4829 ncbi.nlm.nih.gov/gene/4829 |
| Ensembl ID | ENSG00000135540 |
| UniProt ID | P28336 |
| OMIM ID | 162340 |
| HGNC ID | 7844 |
| Aliases | BB1, NMB-R, neuromedin B receptor |
Description
The NMBR gene encodes the neuromedin B receptor, a G protein-coupled receptor (GPCR) that binds neuromedin B, a bombesin-related peptide. This receptor is involved in various physiological processes including smooth muscle contraction, exocrine and endocrine secretion, cell growth, and neuroendocrine signaling. It is expressed in the central nervous system, gastrointestinal tract, and certain cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Lung cancer (small cell lung carcinoma) | Overexpression of NMBR may contribute to autocrine growth stimulation via neuromedin B signaling | PubMed: 8380234; COSMIC: NMBR overexpression in SCLC cell lines |
| Prostate cancer | NMBR activation promotes cell proliferation and migration through MAPK/ERK pathway | PubMed: 19137026 |
| Breast cancer | NMBR expression correlates with tumor grade and poor prognosis | PubMed: 21912537 |
| Gastrointestinal stromal tumors | NMBR expression detected in GIST samples, potential role in tumor growth | PubMed: 17334989 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 5.2 | Medium |
| Esophagus | 3.8 | Low |
| Stomach | 4.1 | Low |
| Small intestine | 6.7 | Medium |
| Colon | 5.9 | Medium |
| Pancreas | 2.3 | Low |
| Lung | 1.5 | Not detected |
| Prostate | 3.0 | Low |
| Breast | 1.2 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| NCI-H69 (SCLC) | 12.5 | High expression; COSMIC cell line |
| DMS 53 (SCLC) | 10.8 | High expression; COSMIC cell line |
| PC-3 (prostate cancer) | 8.3 | Moderate expression |
| MCF-7 (breast cancer) | 2.1 | Low expression |
| HEK293 | 0.5 | Very low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.548G>A (p.Arg183His) | Missense | 0.02% (gnomAD) | Unknown functional effect; located in transmembrane domain |
| c.100C>T (p.Arg34Trp) | Missense | 0.01% (gnomAD) | Potential loss of function; ligand binding domain |
| c.782_783insA (p.Asn262Lysfs*5) | Frameshift | Rare | Loss of function; premature truncation |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations (e.g., p.Asn262Lysfs*5) lead to truncated receptor, likely impairing signaling.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported in NMBR.
Dominant Negative (DN)
No evidence of dominant-negative effects for NMBR mutations.
View complete mutation data：
Gene Ontology (GO)
| • G protein-coupled receptor activity (GO:0004930) | • neuromedin B receptor activity (GO:0008528) |
| • G protein-coupled receptor signaling pathway (GO:0007186) | • plasma membrane (GO:0005886) |
| • integral component of membrane (GO:0016021) | • cell proliferation (GO:0008283) |
Pathways
• Bombesin receptor signaling pathway (Reactome: R-HSA-375276)
• GPCR downstream signaling (Reactome: R-HSA-388396)
• MAPK/ERK signaling pathway (KEGG: hsa04010)
Protein Summary
The neuromedin B receptor (NMBR) is a 390-amino acid G protein-coupled receptor with seven transmembrane domains. It binds neuromedin B with high affinity, activating phospholipase C and increasing intracellular calcium. The receptor is involved in cell growth, differentiation, and neuroendocrine regulation. NMBR is overexpressed in several cancers, particularly small cell lung carcinoma, making it a potential therapeutic target.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| NMBR Knockout HEK293 Cell Line | EDJ-KQ50480 | Human | 4829 | Details Get a Quote |
| NMBR Knockout HeLa Cell Line | EDJ-KQ53998 | Human | 4829 | Details Get a Quote |
| NMBR Knockout A-549 Cell Line | EDJ-KQ62491 | Human | 4829 | Details Get a Quote |
| NMBR Knockout HCT 116 Cell Line | EDJ-KQ70957 | Human | 4829 | Details Get a Quote |
