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GeneE
26 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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MTNR1B
melatonin receptor 1B
Chromosome 11 · 11q14.3
NCBI Gene: 4544Ensembl: ENSG00000134640.3HGNC: HGNC:7464UniProt: P49286
215PubMed Papers
20Diseases
5Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Receptor
RESEARCH IMPACT
Trending
CLINICAL
FDA Approved Target
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingregulation of insulin secretionglucose homeostasisG protein-coupled receptor signaling pathwaydiabetes mellitusinsomniamajor depressive disordertype 2 diabetes mellitus
✦AI Summary

MTNR1B encodes melatonin receptor 1B, a G protein-coupled receptor mediating melatonin's reproductive and circadian actions through pertussis toxin-sensitive G proteins that inhibit adenylate cyclase activity. The receptor regulates glucose homeostasis and insulin secretion, functioning as a high-affinity melatonin binding protein at the plasma membrane. Genetically, multiple MTNR1B polymorphisms associate with metabolic disease risk. The rs1387153 variant significantly increases gestational diabetes mellitus (GDM) susceptibility across diverse populations 1, with similar associations for rs10830962, rs4753426, and rs10830963 variants 2. The rs10830963 G allele correlates with impaired early-phase insulin secretion and elevated fasting glucose even in healthy individuals, suggesting primary effects on beta cell function 3. GDM-associated variants show independent risk prediction, modified by gene-gene and gene-environmental interactions including pre-pregnancy BMI and protein intake 24. Regarding non-metabolic conditions, MTNR1B rs4753426 and rs10830963 polymorphisms show no significant association with adolescent idiopathic scoliosis (AIS) risk overall, though Asian subgroup analyses revealed associations with rs4753426 56. Clinically, MTNR1B genetic variants serve as biomarkers for GDM and type 2 diabetes susceptibility, though mechanistic understanding of how melatonin signaling disruption impairs glucose regulation remains incomplete 7.

Sources cited
1
MTNR1B rs1387153 polymorphism significantly increases GDM risk across all genetic models and ethnicities
PMID: 37980891
2
MTNR1B rs4753426 and rs10830963 polymorphisms show no significant association with AIS risk in Asian or Caucasian populations
PMID: 25898821
3
Multiple MTNR1B variants (rs1387153, rs10830962, rs4753426, rs10830963) are risk mutations for GDM; pre-pregnancy BMI ≥20.57 kg/m² significantly increases GDM risk
PMID: 38007162
4
MTNR1B rs10830963 G allele carriers have increased GDM risk independent of other factors
PMID: 28084098
5
MTNR1B rs4753426 C allele significantly associates with AIS risk, particularly in Asian populations
PMID: 26431121
6
MTNR1B rs10830963 polymorphism affects weight loss response to hypocaloric diet with gene-gene and gene-diet interactions
PMID: 25870980
7
MTNR1B rs10830963 GG genotype shows impaired early-phase insulin and C-peptide secretion with higher stimulated glucose levels during OGTT
PMID: 35733780
8
MTNR1B rs10830963 is a major GWAS-identified T2D risk variant; mechanistic understanding of MTNR1B's role in glucose regulation remains incomplete
PMID: 29063374
Disease Associationsⓘ20
diabetes mellitusOpen Targets
0.61Moderate
insomniaOpen Targets
0.60Moderate
major depressive disorderOpen Targets
0.58Moderate
type 2 diabetes mellitusOpen Targets
0.57Moderate
gestational diabetesOpen Targets
0.55Moderate
sleep-wake disorderOpen Targets
0.53Moderate
metabolic syndromeOpen Targets
0.47Moderate
circadian rhythm sleep disorderOpen Targets
0.47Moderate
glucose metabolism diseaseOpen Targets
0.47Moderate
Abnormal glucose homeostasisOpen Targets
0.41Moderate
pregnancy disorderOpen Targets
0.41Moderate
autismOpen Targets
0.39Weak
Sleep DisorderOpen Targets
0.38Weak
bipolar disorderOpen Targets
0.37Weak
deliriumOpen Targets
0.37Weak
Chromosomal anomalyOpen Targets
0.37Weak
AnxietyOpen Targets
0.36Weak
schizophreniaOpen Targets
0.35Weak
cancerOpen Targets
0.34Weak
intestinal disaccharide deficiency and disaccharide malabsorptionOpen Targets
0.33Weak
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Drug Targets5
AGOMELATINEApproved
Serotonin 2c (5-HT2c) receptor antagonist
major depressive disorder
MELATONINApproved
Melatonin receptor agonist
PIROMELATINEPhase II/III
Melatonin receptor agonist
Alzheimer disease
RAMELTEONApproved
Melatonin receptor agonist
insomnia
TASIMELTEONApproved
Melatonin receptor agonist
Chromosomal anomaly
Related Genes
GNG13Protein interaction100%GNG2Protein interaction100%GNG12Protein interaction100%GNAI2Protein interaction95%INSProtein interaction95%GNAI1Protein interaction94%
Tissue Expression6 tissues
Brain
100%
Liver
0%
Lung
0%
Heart
0%
Ovary
0%
Bone Marrow
0%
Gene Interaction Network
Click a node to explore
MTNR1BGNG13GNG2GNG12GNAI2INSGNAI1
PROTEIN STRUCTURE
Preparing viewer…
PDB6ME6 · 2.80 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
1.92LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF1.41 [0.82–1.92]
RankingsWhere MTNR1B stands among ~20K protein-coding genes
  • #1,930of 20,598
    Most Researched215 · top 10%
  • #397of 1,025
    FDA-Approved Drug Targets4
  • #17,375of 17,882
    Most Constrained (LOEUF)1.92
Genes detectedMTNR1B
Sources retrieved26 papers
Response time—
📄 Sources
26▼
1
MTNR1B rs1387153 Polymorphism and Risk of Gestational Diabetes Mellitus: Meta-Analysis and Trial Sequential Analysis.
PMID: 37980891
Public Health Genomics · 2023
1.00
2
The polymorphisms of melatonin receptor 1B gene (MTNR1B) (rs4753426 and rs10830963) and susceptibility to adolescent idiopathic scoliosis: a meta-analysis.
PMID: 25898821
J Orthop Sci · 2015
0.90
3
MTNR1B gene variations and high pre-pregnancy BMI increase gestational diabetes mellitus risk in Chinese women.
PMID: 38007162
Gene · 2024
0.80
4
MTNR1A and MTNR1B gene polymorphisms in women with gestational diabetes.
PMID: 28084098
Gynecol Endocrinol · 2017
0.70
5
PCOS and the Genome: Is the Genetic Puzzle Still Worth Solving?
PMID: 40868166
Biomedicines · 2025
0.68