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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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MTNR1A
melatonin receptor 1A
Chromosome 4 · 4q35.2
NCBI Gene: 4543Ensembl: ENSG00000168412.7HGNC: HGNC:7463UniProt: P48039
116PubMed Papers
20Diseases
5Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Receptor
CLINICAL
FDA Approved Target
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
adenylate cyclase-inhibiting G protein-coupled receptor signaling pathwayprotein bindingmelatonin receptor activityhormone bindinginsomniamajor depressive disordersleep-wake disordercircadian rhythm sleep disorder
✦AI Summary

MTNR1A encodes a high-affinity melatonin receptor that mediates circadian rhythm regulation and reproductive functions 1. As a G-protein-coupled receptor, MTNR1A signals through pertussis toxin-sensitive G proteins to inhibit adenylate cyclase activity, modulating synaptic transmission and potentially inducing sleep 2. The receptor is expressed in pancreatic beta cells where it regulates glucose homeostasis and insulin secretion 3. MTNR1A variants are associated with multiple metabolic and skeletal disorders. Genome-wide association studies identified three novel MTNR1A variants linked to type 2 diabetes in Italian families 3, while separate studies found MTNR1A polymorphisms associated with altered lipid profiles and vascular stiffness parameters in healthy individuals 4. Most significantly, rare loss-of-function MTNR1A variants (rs374152717 and rs28383653) cause idiopathic osteoporosis through osteoblast senescence and impaired bone turnover, with elevated prevalence in Ashkenazi Jewish populations 5. In contrast, MTNR1A promoter polymorphisms showed no association with adolescent idiopathic scoliosis 6. MTNR1A is also expressed in salivary gland ducts and Warthin's tumors, suggesting roles in salivary regulation and tumor pathology 7. These findings establish MTNR1A as a multifunctional receptor with implications for metabolic, skeletal, and endocrine diseases.

Sources cited
1
MTNR1A maps to human chromosome 4q35.1 and mediates circadian and reproductive effects of melatonin
PMID: 7558006
2
Three novel MTNR1A variants (rs62350392, rs2119883, rs13147179) are linked to type 2 diabetes in Italian families; MTNR1A is expressed in pancreatic beta cells and regulates glucose homeostasis
PMID: 37259752
3
MTNR1A rs34532313 polymorphism associates with elevated triglycerides, LDL, and fibrinogen levels in healthy individuals
PMID: 36892670
4
Rare MTNR1A variants (rs374152717, rs28383653) cause idiopathic osteoporosis through loss-of-function leading to osteoblast senescence; variants occur at higher frequency in Ashkenazi Jewish populations
PMID: 39413162
5
MTNR1A promoter polymorphism rs2119882 shows no association with adolescent idiopathic scoliosis
PMID: 18794763
6
MTNR1A receptor is expressed in excretory ducts of salivary glands and Warthin's tumors, potentially related to salivary regulation
PMID: 23155241
7
MTNR1A is a G-protein-coupled receptor involved in sleep, circadian rhythm, mood disorders, and cancer growth inhibition
PMID: 33095446
Disease Associationsⓘ20
insomniaOpen Targets
0.60Moderate
major depressive disorderOpen Targets
0.58Moderate
sleep-wake disorderOpen Targets
0.53Moderate
circadian rhythm sleep disorderOpen Targets
0.47Moderate
autismOpen Targets
0.39Weak
Sleep DisorderOpen Targets
0.38Weak
bipolar disorderOpen Targets
0.37Weak
Chromosomal anomalyOpen Targets
0.37Weak
deliriumOpen Targets
0.36Weak
neurodegenerative diseaseOpen Targets
0.36Weak
AnxietyOpen Targets
0.36Weak
cancerOpen Targets
0.34Weak
depressive disorderOpen Targets
0.33Weak
migraine disorderOpen Targets
0.30Weak
autism spectrum disorderOpen Targets
0.28Weak
obstructive sleep apneaOpen Targets
0.28Weak
attention deficit hyperactivity disorderOpen Targets
0.27Weak
gastroesophageal reflux diseaseOpen Targets
0.27Weak
alcohol drinkingOpen Targets
0.27Weak
oral squamous cell carcinomaOpen Targets
0.27Weak
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%GPR50Protein interaction96%GNAI2Protein interaction95%FAT1Protein interaction95%GNAI3Protein interaction89%
Tissue Expression6 tissues
Bone Marrow
100%
Brain
50%
Ovary
0%
Heart
0%
Liver
0%
Lung
0%
Gene Interaction Network
Click a node to explore
MTNR1AGNG13GNG2GPR50GNAI2FAT1GNAI3
PROTEIN STRUCTURE
Preparing viewer…
PDB6ME2 · 2.80 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
1.90LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF1.37 [0.84–1.90]
RankingsWhere MTNR1A stands among ~20K protein-coding genes
  • #4,089of 20,598
    Most Researched116 · top quartile
  • #413of 1,025
    FDA-Approved Drug Targets4
  • #17,265of 17,882
    Most Constrained (LOEUF)1.90
Genes detectedMTNR1A
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Melatonin receptor 1A (MTNR1A) gene linkage and association to type 2 diabetes in Italian families.
PMID: 37259752
Eur Rev Med Pharmacol Sci · 2023
1.00
2
MTNR1A and MTNR1B gene polymorphisms in women with gestational diabetes.
PMID: 28084098
Gynecol Endocrinol · 2017
0.90
3
MTNR1A and MTNR1B Gene Variants of the Melatonin Receptor and Arterial Stiffness in Persons without Arterial Hypertension.
PMID: 36892670
Bull Exp Biol Med · 2023
0.80
4
Melatonin receptor 1A variants as genetic cause of idiopathic osteoporosis.
PMID: 39413162
Sci Transl Med · 2024
0.70
5
Mapping of the gene for the Mel1a-melatonin receptor to human chromosome 4 (MTNR1A) and mouse chromosome 8 (Mtnr1a).
PMID: 7558006
Genomics · 1995
0.60