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NMBR neuromedin B receptor [ Homo sapiens (human) ]

Gene ID: 4829, updated on 11-Apr-2024

Summary

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Official Symbol
NMBRprovided by HGNC
Official Full Name
neuromedin B receptorprovided by HGNC
Primary source
HGNC:HGNC:7843
See related
Ensembl:ENSG00000135577 MIM:162341; AllianceGenome:HGNC:7843
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
BB1; BB1R; BRS1; NMB-R
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 contraction, neuronal responses, and the regulation of cell growth. Antagonists of this receptor have a potential therapeutic use in inhibiting tumor cell growth. Polymorphisms in this gene may be associated with a susceptibility for schizophrenia. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Apr 2016]
Expression
Low expression observed in reference dataset See more
Orthologs
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Genomic context

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Location:
6q24.1
Exon count:
5
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (142074484..142147122, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (143260409..143339214, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (142395621..142468259, complement)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105378031 Neighboring gene MPRA-validated peak6169 silencer Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr6:142335462-142336126 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr6:142336127-142336790 Neighboring gene uncharacterized LOC107986654 Neighboring gene MPRA-validated peak6171 silencer Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:142409105-142409658 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:142409659-142410210 Neighboring gene Sharpr-MPRA regulatory region 1984 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:142468581-142469101 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr6:142476776-142477403 Neighboring gene gap junction protein epsilon 1 Neighboring gene vesicle trafficking 1 Neighboring gene Sharpr-MPRA regulatory region 15423 Neighboring gene long intergenic non-protein coding RNA 2919

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Impact of natural neuromedin-B receptor variants on iron metabolism. Rametta R, et al. Am J Hematol, 2020 Feb. PMID 31724192
  2. Viability of D283 medulloblastoma cells treated with a histone deacetylase inhibitor combined with bombesin receptor antagonists. Jaeger M, et al. Childs Nerv Syst, 2016 Jan. PMID 26590027
  3. Monitoring β-arrestin recruitment via β-lactamase enzyme fragment complementation: purification of peptide E as a low-affinity ligand for mammalian bombesin receptors. Ikeda Y, et al. PLoS One, 2015. PMID 26030739, Free PMC Article
  4. Bombesin-like peptides and their receptors: recent findings in pharmacology and physiology. Guo M, et al. Curr Opin Endocrinol Diabetes Obes, 2015 Feb. PMID 25517020
  5. (99m)Tc-Hydrazinonicotinyl(tricine)(TPPTS)-Glu-c(RGDyK)-bombesin[7-14]NH(2). Leung K. , 2004. PMID 23166958

See all (60) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. NMBR natural variants were enriched in patients with iron overload, and associated with facilitated iron absorption, possibly related to a defect of iron-induced hepcidin release.
    Title: Impact of natural neuromedin-B receptor variants on iron metabolism.
  2. The rs2717 and rs6926279 within the NMBR gene were associated with schizophrenia liability.
    Title: PDE7B, NMBR and EPM2A Variants and Schizophrenia: A Case-Control and Pharmacogenetics Study.
  3. Hypoxia regulates the expression of the neuromedin B receptor through a mechanism dependent on hypoxia-inducible factor-1alpha.
    Title: Hypoxia regulates the expression of the neuromedin B receptor through a mechanism dependent on hypoxia-inducible factor-1α.
  4. Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
    Title: Four novel Loci (19q13, 6q24, 12q24, and 5q14) influence the microcirculation in vivo.
  5. NMB and its receptor are coexpressed by proliferating cells in which they act in an autocrine fashion with similar and modest potency in both normal and malignant colonic epithelial cells.
    Title: Neuromedin B and its receptor are mitogens in both normal and malignant epithelial cells lining the colon.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Four novel Loci (19q13, 6q24, 12q24, and 5q14) influence the microcirculation in vivo.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables bombesin receptor activity IEA
Inferred from Electronic Annotation
more info
  
enables neuropeptide receptor activity IBA
Inferred from Biological aspect of Ancestor
more info
  
Process Evidence Code Pubs
involved_in G protein-coupled receptor signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in antiviral innate immune response IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in bombesin receptor signaling pathway IEA
Inferred from Electronic Annotation
more info
  
involved_in negative regulation of interleukin-6 production IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in neuropeptide signaling pathway IEA
Inferred from Electronic Annotation
more info
  
involved_in phospholipase C-activating G protein-coupled receptor signaling pathway TAS
Traceable Author Statement
more info
 PubMed 
involved_in positive regulation of interferon-alpha production IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in positive regulation of osteoclast proliferation ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in positive regulation of respiratory gaseous exchange ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in sneeze reflex ISS
Inferred from Sequence or Structural Similarity
more info
  
Component Evidence Code Pubs
located_in cytosol IDA
Inferred from Direct Assay
more info
  
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in plasma membrane IDA
Inferred from Direct Assay
more info
  
located_in plasma membrane TAS
Traceable Author Statement
more info
  

General protein information

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Preferred Names
neuromedin-B receptor
Names
bombesin receptor 1
epididymis secretory sperm binding protein Li 185a
epididymis tissue protein Li 185a
neuromedin-B-preferring bombesin receptor

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001324307.2 → NP_001311236.1  neuromedin-B receptor isoform b precursor

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) contains alternate 5' exon structure, and it thus differs in the 5' UTR and initiates translation from a downstream in-frame start codon, compared to variant 1. The encoded isoform (b) is shorter at the N-terminus, compared to isoform a. Both variants 2 and 3 encode isoform b.
    Source sequence(s)
    AL033522, AL589674, BX111967, DB462076, M73482
    UniProtKB/Swiss-Prot
    P28336
    Conserved Domains (1) summary
    pfam00001
    Location:3 → 174
    7tm_1; 7 transmembrane receptor (rhodopsin family)

  2. NM_001324308.2 → NP_001311237.1  neuromedin-B receptor isoform b precursor

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) contains an alternate 5' terminal exon, and it thus differs in the 5' UTR and initiates translation from a downstream in-frame start codon, compared to variant 1. The encoded isoform (b) is shorter at the N-terminus, compared to isoform a. Both variants 2 and 3 encode isoform b.
    Source sequence(s)
    AL033522, AL589674, BX111967, DB462076, M73482
    UniProtKB/Swiss-Prot
    P28336
    Conserved Domains (1) summary
    pfam00001
    Location:3 → 174
    7tm_1; 7 transmembrane receptor (rhodopsin family)

  3. NM_002511.4 → NP_002502.2  neuromedin-B receptor isoform a

    See identical proteins and their annotated locations for NP_002502.2

    Status: REVIEWED

    Source sequence(s)
    AL033522, AL589674
    Consensus CDS
    CCDS5196.1
    UniProtKB/Swiss-Prot
    E9KL38, P28336, Q5VUK8
    UniProtKB/TrEMBL
    Q4VBL0
    Related
    ENSP00000258042.1, ENST00000258042.2
    Conserved Domains (1) summary
    pfam00001
    Location:60 → 322
    7tm_1; 7 transmembrane receptor (rhodopsin family)

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p14 Primary Assembly

    Range
    142074484..142147122 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060930.1 Alternate T2T-CHM13v2.0

    Range
    143260409..143339214 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P28336.2 GenPept UniProtKB/Swiss-Prot:P28336

Gene LinkOut

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