Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	4544
Gene name Gene Name - the full gene name approved by the HGNC.	Melatonin receptor 1B
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	MTNR1B
Synonyms (NCBI Gene) Gene synonyms aliases	FGQTL2, MEL-1B-R, MT2
Chromosome Chromosome number	11
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	11q14.3
Summary Summary of gene provided in NCBI Entrez Gene.	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

Show/Hide all(4)

SNP ID	Visualize variation	Clinical significance	Consequence
rs141804752	T>A,G	Risk-factor	Coding sequence variant, genic upstream transcript variant, missense variant
rs182349376	C>A,T	Risk-factor	Missense variant, coding sequence variant
rs184917682	A>C,G	Risk-factor	Missense variant, coding sequence variant
rs387906779	G>C	Risk-factor	Missense variant, coding sequence variant, genic upstream transcript variant

Show/Hide all(30)

miRTarBase ID	miRNA	Experiments
MIRT2575265	hsa-miR-1254	CLIP-seq
MIRT2575266	hsa-miR-214	CLIP-seq
MIRT2575267	hsa-miR-3116	CLIP-seq
MIRT2575268	hsa-miR-3136-3p	CLIP-seq
MIRT2575269	hsa-miR-3619-5p	CLIP-seq
MIRT2575270	hsa-miR-3663-5p	CLIP-seq
MIRT2575271	hsa-miR-4530	CLIP-seq
MIRT2575272	hsa-miR-4690-5p	CLIP-seq
MIRT2575273	hsa-miR-644	CLIP-seq
MIRT2575274	hsa-miR-661	CLIP-seq
MIRT2575275	hsa-miR-663b	CLIP-seq
MIRT2575276	hsa-miR-761	CLIP-seq
MIRT2575265	hsa-miR-1254	CLIP-seq
MIRT2575266	hsa-miR-214	CLIP-seq
MIRT2575267	hsa-miR-3116	CLIP-seq
MIRT2575268	hsa-miR-3136-3p	CLIP-seq
MIRT2575269	hsa-miR-3619-5p	CLIP-seq
MIRT2685506	hsa-miR-362-5p	CLIP-seq
MIRT2575270	hsa-miR-3663-5p	CLIP-seq
MIRT2575271	hsa-miR-4530	CLIP-seq
MIRT2685507	hsa-miR-4639-5p	CLIP-seq
MIRT2575272	hsa-miR-4690-5p	CLIP-seq
MIRT2685508	hsa-miR-4753-3p	CLIP-seq
MIRT2685509	hsa-miR-4793-5p	CLIP-seq
MIRT2685510	hsa-miR-500b	CLIP-seq
MIRT2685511	hsa-miR-502-5p	CLIP-seq
MIRT2575273	hsa-miR-644	CLIP-seq
MIRT2575274	hsa-miR-661	CLIP-seq
MIRT2575275	hsa-miR-663b	CLIP-seq
MIRT2575276	hsa-miR-761	CLIP-seq

Show/Hide all(30)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004930	Function	G protein-coupled receptor activity	IBA
GO:0004930	Function	G protein-coupled receptor activity	IEA
GO:0004930	Function	G protein-coupled receptor activity	TAS	7568007
GO:0005515	Function	Protein binding	IPI	20859254, 25770211, 26514267, 28827538
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS	7568007
GO:0007165	Process	Signal transduction	IEA
GO:0007186	Process	G protein-coupled receptor signaling pathway	IBA
GO:0007186	Process	G protein-coupled receptor signaling pathway	IEA
GO:0007187	Process	G protein-coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger	IEA
GO:0007187	Process	G protein-coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger	TAS	7568007
GO:0007268	Process	Chemical synaptic transmission	TAS	7568007
GO:0008502	Function	Melatonin receptor activity	IEA
GO:0008502	Function	Melatonin receptor activity	TAS	7568007
GO:0010754	Process	Negative regulation of cGMP-mediated signaling	IEA
GO:0016020	Component	Membrane	IEA
GO:0042593	Process	Glucose homeostasis	IMP	20668700
GO:0042753	Process	Positive regulation of circadian rhythm	IEA
GO:0043010	Process	Camera-type eye development	IEA
GO:0043524	Process	Negative regulation of neuron apoptotic process	IEA
GO:0045202	Component	Synapse	IEA
GO:0045906	Process	Negative regulation of vasoconstriction	IEA
GO:0046010	Process	Positive regulation of circadian sleep/wake cycle, non-REM sleep	IEA
GO:0046676	Process	Negative regulation of insulin secretion	IEA
GO:0050796	Process	Regulation of insulin secretion	IMP	20668700
GO:0051481	Process	Negative regulation of cytosolic calcium ion concentration	IEA
GO:0051970	Process	Negative regulation of transmission of nerve impulse	IEA
GO:0051971	Process	Positive regulation of transmission of nerve impulse	IEA
GO:0098908	Process	Regulation of neuronal action potential	IEA

MIM	HGNC	e!Ensembl
600804	7464	ENSG00000134640

Protein

UniProt ID

P49286

Protein name

Melatonin receptor type 1B (Mel-1B-R) (Mel1b receptor)

Protein function

High affinity receptor for melatonin. Likely to mediate the reproductive and circadian actions of melatonin. The activity of this receptor is mediated by pertussis toxin sensitive G proteins that inhibit adenylate cyclase activity.

PDB

6ME6 , 6ME7 , 6ME8 , 6ME9 , 7VH0

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00001	7tm_1	57 → 308	7 transmembrane receptor (rhodopsin family)	Family

Tissue specificity

TISSUE SPECIFICITY: Expressed in retina and less in brain and hippocampus. {ECO:0000269|PubMed:7568007}.

Sequence

MSENGSFANCCEAGGWAVRPGWSGAGSARPSRTPRPPWVAPALSAVLIVTTAVDVVGNLL
VILSVLRNRKLRNAGNLFLVSLALADLVVAFYPYPLILVAIFYDGWALGEEHCKASAFVM
GLSVIGSVFNITAIAINRYCYICHSMAYHRIYRRWHTPLHICLIWLLTVVALLPNFFVGS
LEYDPRIYSCTFIQTASTQYTAAVVVIHFLLPIAVVSFCYLRIWVLVLQARRKAKPESRL
CLKPSDLRSFLTMFVVFVIFAICWAPLNCIGLAVAINPQEMAPQIPEGLFVTSYLLAYFN
SCLNAIVYGLLNQNFRREYKRILLALWNPRHCIQDASKGSHAEGLQSPAPPIIGVQHQAD
AL

Sequence length

362

Interactions

View interactions

	KEGG		Reactome
	Neuroactive ligand-receptor interaction Circadian entrainment		Class A/1 (Rhodopsin-like receptors) G alpha (i) signalling events

Show/Hide Unknown Diseases (5)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Diabetes	Diabetic kidney disease in type 2 diabetes, Type 2 diabetes (PheCode 250.2), Type 2 diabetes	N/A	N/A	GWAS
Diabetes Mellitus	Diabetes mellitus type 2, susceptibility to	N/A	N/A	ClinVar
Insomnia	Insomnia (caffeine-induced)	N/A	N/A	GWAS
Metabolic Syndrome	Metabolic syndrome (bivariate traits), Metabolic syndrome	N/A	N/A	GWAS
Neuroticism	Neuroticism	N/A	N/A	GWAS

Show/Hide Text Mining Associations (66)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Abortion Spontaneous	Associate	37395040
Arthritis	Associate	31815152
Atherosclerosis	Associate	36658621
beta Thalassemia	Associate	35733780
Breast Neoplasms	Inhibit	22138747
Breast Neoplasms	Associate	22138747, 30454048, 35467761, 36705562
Carcinoma Renal Cell	Associate	32788609
Cardiovascular Diseases	Associate	37511203
Cognitive Dysfunction	Associate	20398260
Colorectal Neoplasms	Associate	34608882, 34629798
Congenital adrenal hyperplasia due to 11 Beta hydroxylase deficiency	Associate	20398260
Constriction Pathologic	Associate	36658621
Conversion Disorder	Associate	20398260
Delirium	Associate	30481216, 35017578
Delirium	Inhibit	35017578
Depressive Disorder	Associate	29280852, 30718454, 38217063
Diabetes Complications	Associate	21658282
Diabetes Gestational	Associate	21658282, 22096510, 22233651, 22450346, 24728128, 26345809, 28072873, 28084098, 29590381, 29947923, 30477160, 31542245, 31580701, 31826236, 32022227 View all (8 more)
Diabetes Mellitus	Associate	19455304, 19833888, 24728128, 26868293, 28455106, 29194408, 30834760, 30907055, 32964052, 35733780, 36997916, 40064676
Diabetes Mellitus Type 2	Associate	19060907, 19088850, 19241057, 19324940, 19533084, 19651812, 19741166, 19833888, 20398260, 20628598, 20668700, 21445555, 21470412, 21558052, 21658282 View all (37 more)
Emergence Delirium	Associate	30481216
Feeding and Eating Disorders	Associate	34669935
Glaucoma Open Angle	Associate	26608880
Glucose Intolerance	Associate	22768333, 28455106, 35733780
Glucose Metabolism Disorders	Associate	36632752
Graves Disease	Associate	28961261
Heart Diseases	Associate	30481216
Hypercholesterolemia	Associate	29726288
Hyperglycemia	Associate	20185807, 20858683
Hyperinsulinism	Associate	20185807
Hypertension	Associate	26599349, 37816730
Hypoglycemia	Associate	19324940, 21701235, 25919927, 35733780
Inflammation	Associate	36658621
Insulin Resistance	Associate	19088850, 19241057, 19324940, 20628598, 21558052, 29726288, 30592226, 33119394, 34020621
Insulinoma	Associate	19324940
Islet cell tumor syndrome	Associate	31123324
Lipid Metabolism Disorders	Associate	30664204
Lupus Erythematosus Systemic	Associate	31815152
Metabolic Diseases	Associate	30664204
Metabolic Syndrome	Associate	26599349, 29726288, 30834760, 37816730, 38201907
Myocardial Infarction	Associate	32616615
Myotonic Dystrophy	Associate	30834760
Neoplasms	Associate	33371790, 35467761
Neoplasms Adipose Tissue	Associate	34020621
Obesity	Associate	19088850, 21558052, 25060389, 25919927, 29726288, 30664204, 30834760, 31826236, 34020621, 36997916, 37816730
Obesity Abdominal	Inhibit	26599349
Obesity Abdominal	Associate	26599349
Orthorexia Nervosa	Associate	34669935
Ovarian Hyperstimulation Syndrome	Associate	30979376
Overweight	Associate	31826236
Pancreatic Neoplasms	Associate	21445555
Parkinson Disease	Associate	34132705
Peritoneal Diseases	Associate	31211323
Polycystic Ovary Syndrome	Associate	20207350, 30664204, 38217063
Prediabetic State	Associate	19088850
Pregnancy Complications	Associate	37395040
Prostatic Neoplasms	Associate	23193118
Renal Insufficiency	Associate	37395040
Sleep Initiation and Maintenance Disorders	Associate	34020621
Sleep Wake Disorders	Associate	35321658
Smoke Inhalation Injury	Associate	36705562
Stroke	Associate	35411403
Uveal melanoma	Associate	39201396
Weight Gain	Associate	29590381, 31826236
Weight Loss	Associate	24335056, 33119394
Wolfram Like Syndrome Autosomal Dominant	Associate	40064676

MTNR1B (melatonin receptor 1B)