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

Gene ID: 4544, updated on 13-Apr-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
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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_2023_10 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (92969651..92984960)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (92898486..92915091)
105.20220307 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
  • 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. The Association between Dietary Iron Intake, SNP of the MTNR1B rs10830963, and Glucose Metabolism in Chinese Population. Shen L, et al. Nutrients, 2023 Apr 20. PMID 37111205, Free PMC Article
  2. The melatonin receptor 1B gene links circadian rhythms and type 2 diabetes mellitus: an evolutionary story. Zhu H, et al. Ann Med, 2023 Dec. PMID 36974476, Free PMC Article
  3. Role of melatonin receptor 1B gene polymorphism and its effect on the regulation of glucose transport in gestational diabetes mellitus. Wei L, et al. J Zhejiang Univ Sci B, 2023 Jan 15. PMID 36632752, Free PMC Article
  4. Melatonin receptor gene polymorphisms as a risk factor in patients with diabetic peripheral neuropathy. Ocak Ö, et al. Diabetes Metab Res Rev, 2022 Nov. PMID 36018079
  5. The rs10830963 Polymorphism of the MTNR1B Gene: Association With Abnormal Glucose, Insulin and C-peptide Kinetics. Vejrazkova D, et al. Front Endocrinol (Lausanne), 2022. PMID 35733780, Free PMC Article

See all (206) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. 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.
  2. 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.
  3. 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.
  4. 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.
  5. 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.
  6. Myocardial Infarction Susceptibility and the MTNR1B Polymorphisms.
    Title: Myocardial Infarction Susceptibility and the MTNR1B Polymorphisms.
  7. 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.
  8. Association of rotating night shift work, CLOCK, MTNR1A, MTNR1B genes polymorphisms and their interactions with type 2 diabetes among steelworkers: a case-control study.
    Title: Association of rotating night shift work, CLOCK, MTNR1A, MTNR1B genes polymorphisms and their interactions with type 2 diabetes among steelworkers: a case-control study.
  9. The Association between Dietary Iron Intake, SNP of the MTNR1B rs10830963, and Glucose Metabolism in Chinese Population.
    Title: The Association between Dietary Iron Intake, SNP of the MTNR1B rs10830963, and Glucose Metabolism in Chinese Population.
  10. The melatonin receptor 1B gene links circadian rhythms and type 2 diabetes mellitus: an evolutionary story.
    Title: The melatonin receptor 1B gene links circadian rhythms and type 2 diabetes mellitus: an evolutionary story.
Submit: New GeneRIF Correction See all GeneRIFs (170)

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 II diabetes mellitus
MedGen: C0011860 OMIM: 125853 GeneReviews: WFS1 Spectrum Disorder
Compare labs

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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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_2023_10

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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