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    NMBR neuromedin B receptor [ Homo sapiens (human) ]

    Gene ID: 4829, updated on 27-Nov-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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    See NMBR in Genome Data Viewer
    Location:
    6q24.1
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (142074484..142147122, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (143260409..143339214, complement)
    RS_2024_09 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. Identification and optimization of novel partial agonists of neuromedin B receptor using parallel synthesis. Shuttleworth SJ, et al. Bioorg Med Chem Lett, 2004 Jun 21. PMID 15149640
    2. [(111)In-1,4,7,10-Tetraazacyclododecane-N,N',N'',N'''-tetraacetic acid-Pro(1),Tyr(4)]Bombesin. Cheng KT. , 2004. PMID 20641605
    3. [(99m)Tc-N(4)(0-1)-bzlg(0),D-Phe(6),Leu-NHEt(13),des-Met(14)]Bombesin(6–14). Shan L. , 2004. PMID 20641508
    4. [(111)In-Diethylenetriaminepentaacetic acid-Pro(1),Tyr(4)]bombesin. Cheng KT. , 2004. PMID 20641503
    5. [(111)In-Diethylenetriamine pentaacetic acid-ACMpip(5),Tha(6),βAla(11),Tha(13),NIe(14)]bombesin(5-14). Cheng KT. , 2004. PMID 20641369

    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)

    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_2024_08

    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

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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