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    MTNR1B melatonin receptor 1B [ Homo sapiens (human) ]

    Gene ID: 4544, updated on 2-Nov-2024

    Summary

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    Official Symbol
    MTNR1Bprovided by HGNC
    Official Full Name
    melatonin receptor 1Bprovided by HGNC
    Primary source
    HGNC:HGNC:7464
    See related
    Ensembl:ENSG00000134640 MIM:600804; AllianceGenome:HGNC:7464
    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
    MT2; FGQTL2; MEL-1B-R
    Summary
    This gene encodes one of two high affinity forms of a receptor for melatonin, the primary hormone secreted by the pineal gland. This gene product is an integral membrane protein that is a G-protein coupled, 7-transmembrane receptor. It is found primarily in the retina and brain although this detection requires RT-PCR. It is thought to participate in light-dependent functions in the retina and may be involved in the neurobiological effects of melatonin. [provided by RefSeq, Jul 2008]
    Expression
    Low expression observed in reference dataset See more
    Orthologs
    mouse all
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    Genomic context

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    See MTNR1B in Genome Data Viewer
    Location:
    11q14.3
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (92969651..92984960)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (92898486..92915091)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (92702817..92715948)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene small nuclear ribonucleoprotein polypeptide G pseudogene 16 Neighboring gene uncharacterized LOC124902733 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:92703365-92703864 Neighboring gene Sharpr-MPRA regulatory region 15019 Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:92764815-92765672 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr11:92787513-92788712 Neighboring gene ribosomal protein L26 pseudogene 31 Neighboring gene NANOG hESC enhancer GRCh37_chr11:92806893-92807563 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:92850128-92850670 Neighboring gene Sharpr-MPRA regulatory region 7617 Neighboring gene solute carrier family 36 member 4 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3834

    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 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. A common variant in MTNR1B, encoding melatonin receptor 1B, is associated with type 2 diabetes and fasting plasma glucose in Han Chinese individuals. Rönn T, et al. Diabetologia, 2009 May. PMID 19241057
    2. The MTNR1B gene polymorphism rs10830963 is associated with gestational diabetes in a Brazilian population. Junior JP, et al. Gene, 2015 Aug 15. PMID 25982863
    3. Association between the rs4753426 polymorphism in MTNR1B with fasting plasma glucose level and pancreatic β-cell function in gestational diabetes mellitus. Zhan Y, et al. Genet Mol Res, 2015 Aug 3. PMID 26345809
    4. The Association of rs4753426 Polymorphism in the Melatonin Receptor 1B (MTNR1B) Gene and Susceptibility to Adolescent Idiopathic Scoliosis: A Systematic Review and Meta-analysis. Yang P, et al. Pain Physician, 2015 Sep-Oct. PMID 26431121
    5. Common type 2 diabetes risk variant in MTNR1B worsens the deleterious effect of melatonin on glucose tolerance in humans. Garaulet M, et al. Metabolism, 2015 Dec. PMID 26440713, Free PMC Article

    See all (215) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. KIBRA, MTNR1B, and FKBP5 genotypes are associated with decreased odds of incident delirium in elderly post-surgical patients.
      Title: KIBRA, MTNR1B, and FKBP5 genotypes are associated with decreased odds of incident delirium in elderly post-surgical patients.
    2. Evaluation of the effect of MTNR1B rs10830963 gene variant on the therapeutic efficacy of nateglinide in treating type 2 diabetes among Chinese Han patients.
      Title: Evaluation of the effect of MTNR1B rs10830963 gene variant on the therapeutic efficacy of nateglinide in treating type 2 diabetes among Chinese Han patients.
    3. MTNR 1B (rs10830963) Gene Polymorphism, but not MTNR 1A (rs2119882), Associated with Type 2 Diabetes Mellitus Risk in Saudi Arabia.
      Title: MTNR 1B (rs10830963) Gene Polymorphism, but not MTNR 1A (rs2119882), Associated with Type 2 Diabetes Mellitus Risk in Saudi Arabia.
    4. Melatonin ameliorates hepatic fibrosis via the melatonin receptor 2-mediated upregulation of BMAL1 and anti-oxidative enzymes.
      Title: Melatonin ameliorates hepatic fibrosis via the melatonin receptor 2-mediated upregulation of BMAL1 and anti-oxidative enzymes.
    5. MTNR1B genotype and effects of carbohydrate quantity and dietary glycaemic index on glycaemic response to an oral glucose load: the OmniCarb trial.
      Title: MTNR1B genotype and effects of carbohydrate quantity and dietary glycaemic index on glycaemic response to an oral glucose load: the OmniCarb trial.
    6. MTNR1B gene variations and high pre-pregnancy BMI increase gestational diabetes mellitus risk in Chinese women.
      Title: MTNR1B gene variations and high pre-pregnancy BMI increase gestational diabetes mellitus risk in Chinese women.
    7. MTNR1B rs1387153 Polymorphism and Risk of Gestational Diabetes Mellitus: Meta-Analysis and Trial Sequential Analysis.
      Title: MTNR1B rs1387153 Polymorphism and Risk of Gestational Diabetes Mellitus: Meta-Analysis and Trial Sequential Analysis.
    8. Relationship Between Genetic Variant Of OXTR (Rs53576) And MTNR1B (Rs1387153) And Symptoms Of Psychological Stress In Females With Gestational Diabetes Mellitus.
      Title: Relationship Between Genetic Variant Of OXTR (Rs53576) And MTNR1B (Rs1387153) And Symptoms Of Psychological Stress In Females With Gestational Diabetes Mellitus.
    9. Myocardial Infarction Susceptibility and the MTNR1B Polymorphisms.
      Title: Myocardial Infarction Susceptibility and the MTNR1B Polymorphisms.
    10. Melatonin Receptor 1B and Corticosteroid Receptor Polymorphisms in Infertile Women with Implantation Failure and Miscarriages.
      Title: Melatonin Receptor 1B and Corticosteroid Receptor Polymorphisms in Infertile Women with Implantation Failure and Miscarriages.
    Submit: New GeneRIF Correction See all GeneRIFs (173)

    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

    Associated conditions

    Description Tests
    Type 2 diabetes mellitus
    MedGen: C0011860 OMIM: 125853 GeneReviews: WFS1 Spectrum Disorder
    		not available

    EBI GWAS Catalog

    Description
    A genome-wide approach accounting for body mass index identifies genetic variants influencing fasting glycemic traits and insulin resistance.
    EBI GWAS Catalog
    A genome-wide association study of caffeine-related sleep disturbance: confirmation of a role for a common variant in the adenosine receptor.
    EBI GWAS Catalog
    A genome-wide association study of gestational diabetes mellitus in Korean women.
    EBI GWAS Catalog
    A variant near MTNR1B is associated with increased fasting plasma glucose levels and type 2 diabetes risk.
    EBI GWAS Catalog
    Common genetic variation near melatonin receptor MTNR1B contributes to raised plasma glucose and increased risk of type 2 diabetes among Indian Asians and European Caucasians.
    EBI GWAS Catalog
    Common variants at 10 genomic loci influence hemoglobin A₁(C) levels via glycemic and nonglycemic pathways.
    EBI GWAS Catalog
    Fasting glucose GWAS candidate region analysis across ethnic groups in the Multiethnic Study of Atherosclerosis (MESA).
    EBI GWAS Catalog
    Genome-wide association analysis of metabolic traits in a birth cohort from a founder population.
    EBI GWAS Catalog
    Genome-wide association meta-analysis identifies novel variants associated with fasting plasma glucose in East Asians.
    EBI GWAS Catalog
    Genome-wide association study identifies a region on chromosome 11q14.3 associated with late rectal bleeding following radiation therapy for prostate cancer.
    EBI GWAS Catalog
    Genome-wide association study identifies multiple loci influencing human serum metabolite levels.
    EBI GWAS Catalog
    Genome-wide screen for metabolic syndrome susceptibility Loci reveals strong lipid gene contribution but no evidence for common genetic basis for clustering of metabolic syndrome traits.
    EBI GWAS Catalog
    Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility.
    EBI GWAS Catalog
    Identification of HKDC1 and BACE2 as genes influencing glycemic traits during pregnancy through genome-wide association studies.
    EBI GWAS Catalog
    Large-scale genome-wide association studies in East Asians identify new genetic loci influencing metabolic traits.
    EBI GWAS Catalog
    New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk.
    EBI GWAS Catalog
    New susceptibility loci in MYL2, C12orf51 and OAS1 associated with 1-h plasma glucose as predisposing risk factors for type 2 diabetes in the Korean population.
    EBI GWAS Catalog
    Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
    EBI GWAS Catalog
    Twelve type 2 diabetes susceptibility loci identified through large-scale association analysis.
    EBI GWAS Catalog
    Variants in MTNR1B influence fasting glucose levels.
    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 G protein-coupled receptor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables melatonin receptor activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in G protein-coupled receptor signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in G protein-coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in camera-type eye development IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in chemical synaptic transmission TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in glucose homeostasis IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in negative regulation of cGMP-mediated signaling IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in negative regulation of cytosolic calcium ion concentration IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in negative regulation of insulin secretion IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in negative regulation of neuron apoptotic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in negative regulation of transmission of nerve impulse IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in negative regulation of vasoconstriction IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of circadian sleep/wake cycle, non-REM sleep IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of transmission of nerve impulse IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in regulation of insulin secretion IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in regulation of neuronal action potential IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
    		  
    located_in synapse IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    melatonin receptor type 1B
    Names
    mel1b receptor
    melatonin receptor MEL1B

    NCBI Reference Sequences (RefSeq)

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    NEW Try the new Transcript table

    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.

    Genomic

    1. NG_028160.1 RefSeqGene

      Range
      5029..18160
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_005959.5 → NP_005950.1  melatonin receptor type 1B

      See identical proteins and their annotated locations for NP_005950.1

      Status: REVIEWED

      Source sequence(s)
      AP002371, AP003171
      Consensus CDS
      CCDS8290.1
      UniProtKB/Swiss-Prot
      P49286
      Related
      ENSP00000257068.2, ENST00000257068.3
      Conserved Domains (2) summary
      pfam00001
      Location:57 → 308
      7tm_1; 7 transmembrane receptor (rhodopsin family)
      cl21561
      Location:48 → 192
      7tm_4; Olfactory receptor

    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_000011.10 Reference GRCh38.p14 Primary Assembly

      Range
      92969651..92984960
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011542839.3 → XP_011541141.1  melatonin receptor type 1B isoform X2

      See identical proteins and their annotated locations for XP_011541141.1

      UniProtKB/Swiss-Prot
      P49286
      Conserved Domains (2) summary
      pfam00001
      Location:57 → 308
      7tm_1; 7 transmembrane receptor (rhodopsin family)
      cl21561
      Location:48 → 192
      7tm_4; Olfactory receptor

    2. XM_017017777.2 → XP_016873266.1  melatonin receptor type 1B isoform X1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      92898486..92915091
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054368849.1 → XP_054224824.1  melatonin receptor type 1B isoform X2

    2. XM_054368848.1 → XP_054224823.1  melatonin receptor type 1B isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P49286.1 GenPept UniProtKB/Swiss-Prot:P49286

    Gene LinkOut

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

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