NMBR (neuromedin B receptor)

Gene

• Entrez ID: 4829
• Gene name: Neuromedin B receptor
• Gene symbol: NMBR
• Synonyms (NCBI Gene): BB1, BB1R, BRS1, NMB-R
• Chromosome: 6
• Chromosome location: 6q24.1
• Summary: This gene encodes a 7-transmembrane G protein-coupled receptor that binds neuromedin B, which is a growth factor and mitogen for gastrointestinal epithelial tissue and for normal and neoplastic lung. This receptor may play a role in smooth muscle contract

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004930	Function	G protein-coupled receptor activity	IEA
GO:0004946	Function	Bombesin receptor activity	IEA
GO:0004946	Function	Bombesin receptor activity	TAS	7838118
GO:0005829	Component	Cytosol	IDA
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS	7838118, 8391296
GO:0007165	Process	Signal transduction	IEA
GO:0007186	Process	G protein-coupled receptor signaling pathway	IBA
GO:0007186	Process	G protein-coupled receptor signaling pathway	IEA
GO:0007186	Process	G protein-coupled receptor signaling pathway	TAS	1655761
GO:0007200	Process	Phospholipase C-activating G protein-coupled receptor signaling pathway	TAS	7838118
GO:0007218	Process	Neuropeptide signaling pathway	IEA
GO:0008188	Function	Neuropeptide receptor activity	IBA
GO:0008188	Function	Neuropeptide receptor activity	IEA
GO:0008528	Function	G protein-coupled peptide receptor activity	IEA
GO:0016020	Component	Membrane	IEA
GO:0031989	Process	Bombesin receptor signaling pathway	IEA
GO:0032715	Process	Negative regulation of interleukin-6 production	IEA
GO:0032715	Process	Negative regulation of interleukin-6 production	IMP	31601264
GO:0032727	Process	Positive regulation of interferon-alpha production	IMP	31601264
GO:0090290	Process	Positive regulation of osteoclast proliferation	IEA
GO:0090290	Process	Positive regulation of osteoclast proliferation	ISS
GO:0140374	Process	Antiviral innate immune response	IEA
GO:0140374	Process	Antiviral innate immune response	IMP	31601264
GO:0160023	Process	Sneeze reflex	IEA
GO:0160023	Process	Sneeze reflex	ISS
GO:1903942	Process	Positive regulation of respiratory gaseous exchange	IEA
GO:1903942	Process	Positive regulation of respiratory gaseous exchange	ISS

Other IDs

• MIM: 162341
• HGNC: 7843
• e!Ensembl: ENSG00000135577

Protein

• UniProt ID: P28336
• Protein name: Neuromedin-B receptor (NMB-R) (Epididymis tissue protein Li 185a) (Neuromedin-B-preferring bombesin receptor)
• Protein function: Receptor for neuromedin-B (PubMed:1655761). Contributes to the maintenance of basal sigh rate through signaling in the pre-Botzinger complex, a cluster of several thousand neurons in the ventrolateral medulla responsible for inspiration during r
• PDB: 8H0P
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00001	7tm_1	60 → 325	7 transmembrane receptor (rhodopsin family)	Family

• Tissue specificity: TISSUE SPECIFICITY: Expressed in epididymis (at protein level). {ECO:0000269|PubMed:20736409}.
• Sequence:

  MPSKSLSNLSVTTGANESGSVPEGWERDFLPASDGTTTELVIRCVIPSLYLLIITVGLLG
  NIMLVKIFITNSAMRSVPNIFISNLAAGDLLLLLTCVPVDASRYFFDEWMFGKVGCKLIP
  VIQLTSVGVSVFTLTALSADRYRAIVNPMDMQTSGALLRTCVKAMGIWVVSVLLAVPEAV
  FSEVARISSLDNSSFTACIPYPQTDELHPKIHSVLIFLVYFLIPLAIISIYYYHIAKTLI
  KSAHNLPGEYNEHTKKQMETRKRLAKIVLVFVGCFIFCWFPNHILYMYRSFNYNEIDPSL
  GHMIVTLVARVLSFGNSCVNPFALYLLSESFRRHFNSQLCCGRKSYQERGTSYLLSSSAV
  RMTSLKSNAKNMVTNSVLLNGHSMKQEMAL

• Sequence length: 390

Pathways

KEGG:

Neuroactive ligand-receptor interaction

Reactome:

Peptide ligand-binding receptors
G alpha (q) signalling events

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
BELL'S PALSY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLOR VISION DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PEPTIC ULCER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Bone Marrow Diseases	Bone marrow diseases	Pubtator	12569606	Associate	★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	24349381		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	CTD_human_DG	24349381		★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	1655761		★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	Pubtator	26333124	Associate	★☆☆☆☆ Found in Text Mining only
Cataract microcornea syndrome	Cataract-microcornea syndrome	Pubtator	21972112	Associate	★☆☆☆☆ Found in Text Mining only
Gastrinoma	Gastrinoma	BEFREE	8943970		★☆☆☆☆ Found in Text Mining only
Hemochromatosis	Hemochromatosis	BEFREE	31724192		★☆☆☆☆ Found in Text Mining only
HEMOCHROMATOSIS, TYPE 1	Hemochromatosis	BEFREE	31724192		★☆☆☆☆ Found in Text Mining only
Hereditary hemochromatosis	Hereditary Hemochromatosis	BEFREE	31724192		★☆☆☆☆ Found in Text Mining only
Iron Overload	Iron Overload	BEFREE	31724192		★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	16195335	Associate	★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	1655761	Associate	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	24349381		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	CTD_human_DG	24349381		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	1655761		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	10828496		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	29410320		★☆☆☆☆ Found in Text Mining only
Mammary Carcinoma, Human	Marfan Syndrome	CTD_human_DG	24349381		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	CTD_human_DG	24349381		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms, Human	Mammary Neoplasms	CTD_human_DG	24349381		★☆☆☆☆ Found in Text Mining only
Myoclonic Epilepsies, Progressive	Myoclonic epilepsy	BEFREE	27092952		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	10828496, 11485826, 29410320		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	10545285, 12569606, 8018339		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	31067509		★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	27092952		★☆☆☆☆ Found in Text Mining only
Small cell carcinoma of lung	Lung carcinoma	BEFREE	12569606		★☆☆☆☆ Found in Text Mining only
Small Cell Lung Carcinoma	Small cell lung carcinoma	Pubtator	12569606, 1655761	Associate	★☆☆☆☆ Found in Text Mining only