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... See more...

Aliases for MTNR1B Gene

Aliases for MTNR1B Gene

  • Melatonin Receptor 1B 2 3 5
  • Melatonin Receptor Type 1B 3 4
  • Mel1b Receptor 3 4
  • Melatonin Receptor 1B Variant B 3
  • Melatonin Receptor MEL1B 3
  • MEL-1B-R 3
  • Mel-1B-R 4
  • FGQTL2 3
  • MTNR1B 5
  • MT2 3

External Ids for MTNR1B Gene

Previous GeneCards Identifiers for MTNR1B Gene

  • GC11P095033
  • GC11P094210
  • GC11P092887
  • GC11P092390
  • GC11P092342
  • GC11P092705
  • GC11P088793

Summaries for MTNR1B Gene

Entrez Gene Summary for MTNR1B 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 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]

GeneCards Summary for MTNR1B Gene

MTNR1B (Melatonin Receptor 1B) is a Protein Coding gene. Diseases associated with MTNR1B include Type 2 Diabetes Mellitus and Idiopathic Scoliosis. Among its related pathways are Peptide ligand-binding receptors and Signaling by GPCR. Gene Ontology (GO) annotations related to this gene include G protein-coupled receptor activity and melatonin receptor activity. An important paralog of this gene is MTNR1A.

UniProtKB/Swiss-Prot Summary for MTNR1B Gene

  • 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.

Tocris Summary for MTNR1B Gene

  • Melatonin receptors are a group of high affinity Gi/G0 protein-coupled receptors, which are split into two subtypes; MT1 and MT2. They are widely distributed with high concentrations found in the brain (especially in the suprachiasmatic nucleus) and in the retina.

Gene Wiki entry for MTNR1B Gene

No data available for CIViC Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for MTNR1B Gene

Genomics for MTNR1B Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for MTNR1B Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around MTNR1B on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for MTNR1B

Top Transcription factor binding sites by QIAGEN in the MTNR1B gene promoter:
  • AREB6
  • Brachyury
  • En-1
  • LCR-F1
  • MIF-1
  • NF-1
  • Pbx1a
  • POU2F1
  • POU2F1a

Genomic Locations for MTNR1B Gene

Latest Assembly
chr11:92,969,651-92,986,241
(GRCh38/hg38)
Size:
16,591 bases
Orientation:
Plus strand

Previous Assembly
chr11:92,702,817-92,715,948
(GRCh37/hg19 by Entrez Gene)
Size:
13,132 bases
Orientation:
Plus strand

chr11:92,702,886-92,718,232
(GRCh37/hg19 by Ensembl)
Size:
15,347 bases
Orientation:
Plus strand

Genomic View for MTNR1B Gene

Genes around MTNR1B on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MTNR1B Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MTNR1B Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MTNR1B Gene

Proteins for MTNR1B Gene

  • Protein details for MTNR1B Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P49286-MTR1B_HUMAN
    Recommended name:
    Melatonin receptor type 1B
    Protein Accession:
    P49286

    Protein attributes for MTNR1B Gene

    Size:
    362 amino acids
    Molecular mass:
    40188 Da
    Quaternary structure:
    • Interacts with GPR61, GPR62 and GPR135 (PubMed:28827538).

    Three dimensional structures from OCA and Proteopedia for MTNR1B Gene

neXtProt entry for MTNR1B Gene

Post-translational modifications for MTNR1B Gene

  • Glycosylation at Asn4

Other Protein References for MTNR1B Gene

No data available for DME Specific Peptides for MTNR1B Gene

Domains & Families for MTNR1B Gene

Gene Families for MTNR1B Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • FDA approved drug targets
  • G-protein coupled receptors
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for MTNR1B Gene

InterPro:
Blocks:
  • Melatonin receptor signature

Suggested Antigen Peptide Sequences for MTNR1B Gene

GenScript: Design optimal peptide antigens:
  • Melatonin receptor type 1B (MTR1B_HUMAN)
  • Melatonin receptor 1B variant b (Q7Z583_HUMAN)
  • Melatonin receptor MEL1B (Q8TEV7_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P49286

UniProtKB/Swiss-Prot:

MTR1B_HUMAN :
  • Belongs to the G-protein coupled receptor 1 family.
Family:
  • Belongs to the G-protein coupled receptor 1 family.
genes like me logo Genes that share domains with MTNR1B: view

Function for MTNR1B Gene

Molecular function for MTNR1B Gene

UniProtKB/Swiss-Prot 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.
GENATLAS Biochemistry:
melatonin receptor 1B,expressed in retina and brain,G protein coupled receptor superfamily

Phenotypes From GWAS Catalog for MTNR1B Gene

Gene Ontology (GO) - Molecular Function for MTNR1B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004930 G protein-coupled receptor activity TAS,IBA 21873635
GO:0005515 protein binding IPI 20859254
GO:0008502 melatonin receptor activity TAS,IEA --
genes like me logo Genes that share ontologies with MTNR1B: view
genes like me logo Genes that share phenotypes with MTNR1B: view

Human Phenotype Ontology for MTNR1B Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for MTNR1B Gene

MGI Knock Outs for MTNR1B:

Animal Models for research

  • Taconic Biosciences Mouse Models for MTNR1B

miRNA for MTNR1B Gene

miRTarBase miRNAs that target MTNR1B

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MTNR1B

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for MTNR1B Gene

Localization for MTNR1B Gene

Subcellular locations from UniProtKB/Swiss-Prot for MTNR1B Gene

Cell membrane. Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for MTNR1B gene
Compartment Confidence
plasma membrane 5
extracellular 2
nucleus 2
cytosol 2
cytoskeleton 1
mitochondrion 1
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for MTNR1B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane TAS 7568007
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0045202 synapse IEA --
genes like me logo Genes that share ontologies with MTNR1B: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for MTNR1B Gene

Pathways & Interactions for MTNR1B Gene

genes like me logo Genes that share pathways with MTNR1B: view

Pathways by source for MTNR1B Gene

SIGNOR curated interactions for MTNR1B Gene

Activates:

Gene Ontology (GO) - Biological Process for MTNR1B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007165 signal transduction IEA --
GO:0007186 G protein-coupled receptor signaling pathway TAS --
GO:0007187 G protein-coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger TAS 7568007
GO:0007268 chemical synaptic transmission TAS 7568007
GO:0010754 negative regulation of cGMP-mediated signaling IEA --
genes like me logo Genes that share ontologies with MTNR1B: view

Drugs & Compounds for MTNR1B Gene

(48) Drugs for MTNR1B Gene - From: DrugBank, ClinicalTrials, ApexBio, DGIdb, IUPHAR, HMDB, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Melatonin Approved, Vet_approved Nutra Agonist, Full agonist, Target, binder Melatonin receptors MT inhibitor, Endogenous hormone; agonist at MT1 and MT2 434
Ramelteon Approved, Investigational Pharma Agonist, Full agonist, Target, multitarget Agonist of melatonin receptor(M1-M2),highly selective 0
Agomelatine Approved, Investigational Pharma Agonist, Full agonist, Target MT1/MT2 / 5-HT2C agonist 0
Tasimelteon Approved, Investigational Pharma Target, agonist 0
Tepotinib Approved, Investigational Pharma Target, inhibitor 0

(1) Additional Compounds for MTNR1B Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs

(5) Tocris Compounds for MTNR1B Gene

Compound Action Cas Number
2-Iodomelatonin High affinity melatonin agonist 93515-00-5
2-Phenylmelatonin Potent melatonin agonist 151889-03-1
6-Chloromelatonin Melatonin agonist 63762-74-3
8-M-PDOT Melatonin agonist 134865-70-6
Melatonin Endogenous hormone; agonist at MT1 and MT2 73-31-4

(11) ApexBio Compounds for MTNR1B Gene

Compound Action Cas Number
2-Iodomelatonin 93515-00-5
2-Phenylmelatonin 151889-03-1
4-P-PDOT 134865-74-0
6-Chloromelatonin 63762-74-3
8-M-PDOT 134865-70-6
DH 97 220339-00-4
GR 135531 190277-13-5
Luzindole 117946-91-5
Melatonin Melatonin receptors MT inhibitor 73-31-4
N-Acetyltryptamine 1016-47-3
Ramelteon Agonist of melatonin receptor(M1-M2),highly selective 196597-26-9
genes like me logo Genes that share compounds with MTNR1B: view

Drug products for research

Transcripts for MTNR1B Gene

mRNA/cDNA for MTNR1B Gene

1 REFSEQ mRNAs :
5 NCBI additional mRNA sequence :
3 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MTNR1B

Alternative Splicing Database (ASD) splice patterns (SP) for MTNR1B Gene

No ASD Table

Relevant External Links for MTNR1B Gene

GeneLoc Exon Structure for
MTNR1B

Expression for MTNR1B Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for MTNR1B Gene

mRNA differential expression in normal tissues according to GTEx for MTNR1B Gene

This gene is overexpressed in Testis (x15.9), Brain - Nucleus accumbens (basal ganglia) (x12.2), and Brain - Hypothalamus (x4.5).

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for MTNR1B

SOURCE GeneReport for Unigene cluster for MTNR1B Gene:

Hs.569039

mRNA Expression by UniProt/SwissProt for MTNR1B Gene:

P49286-MTR1B_HUMAN
Tissue specificity: Expressed in retina and less in brain and hippocampus.

Evidence on tissue expression from TISSUES for MTNR1B Gene

  • Eye(4.3)
  • Pancreas(2.3)
genes like me logo Genes that share expression patterns with MTNR1B: view

Primer products for research

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for MTNR1B Gene

Orthologs for MTNR1B Gene

This gene was present in the common ancestor of animals.

Orthologs for MTNR1B Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia MTNR1B 29 30
  • 98.53 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia MTNR1B 29 30
  • 85.52 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia MTNR1B 29
  • 83.06 (n)
Mouse
(Mus musculus)
Mammalia Mtnr1b 29 16 30
  • 81.2 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Mtnr1b 29
  • 80.15 (n)
Oppossum
(Monodelphis domestica)
Mammalia MTNR1B 30
  • 66 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia MTNR1B 30
  • 58 (a)
OneToOne
Chicken
(Gallus gallus)
Aves MEL1B 30
  • 68 (a)
OneToOne
MTNR1B 29
  • 67.6 (n)
Lizard
(Anolis carolinensis)
Reptilia MTNR1B 30
  • 64 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia LOC100493509 29
  • 68.24 (n)
Zebrafish
(Danio rerio)
Actinopterygii mtnr1bb 29 30 30
  • 70.4 (n)
OneToMany
mtnr1ba 30
  • 57 (a)
OneToMany
mel1c 29
Fruit Fly
(Drosophila melanogaster)
Insecta CG30340 30
  • 17 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea npr-35 30
  • 20 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 30
  • 21 (a)
ManyToMany
CSA.5131 30
  • 20 (a)
ManyToMany
Species where no ortholog for MTNR1B was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for MTNR1B Gene

ENSEMBL:
Gene Tree for MTNR1B (if available)
TreeFam:
Gene Tree for MTNR1B (if available)
Aminode:
Evolutionary constrained regions (ECRs) for MTNR1B: view image
Alliance of Genome Resources:
Additional Orthologs for MTNR1B

Paralogs for MTNR1B Gene

(2) SIMAP similar genes for MTNR1B Gene using alignment to 5 proteins:

  • MTR1B_HUMAN
  • E9PR36_HUMAN
  • H0YDG4_HUMAN
  • Q7Z583_HUMAN
  • Q8TEV7_HUMAN
genes like me logo Genes that share paralogs with MTNR1B: view

Variants for MTNR1B Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for MTNR1B Gene

SNP ID Clinical significance and condition Chr 11 pos Variation AA Info Type
rs140984335 Likely Benign: not provided 92,981,727(+) C/T
NM_005959.3(MTNR1B):c.504C>T (p.Thr168=)
SYNONYMOUS
rs141804752 Risk Factor: Diabetes mellitus type 2, susceptibility to 92,969,904(+) T/G
NM_005959.3(MTNR1B):c.179T>G (p.Leu60Arg)
MISSENSE
rs144898464 Benign: not provided 92,981,601(+) C/T
NM_005959.3(MTNR1B):c.378C>T (p.Gly126=)
SYNONYMOUS
rs182349376 Risk Factor: Diabetes mellitus type 2, susceptibility to 92,981,507(+) C/T
NM_005959.3(MTNR1B):c.284C>T (p.Pro95Leu)
MISSENSE
rs184917682 Risk Factor: Diabetes mellitus type 2, susceptibility to 92,982,146(+) A/C
NM_005959.3(MTNR1B):c.923A>C (p.Tyr308Ser)
MISSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for MTNR1B Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for MTNR1B Gene

Variant ID Type Subtype PubMed ID
dgv2094n54 CNV loss 21841781
esv2744911 CNV deletion 23290073
esv2760202 CNV gain 21179565
esv28204 CNV gain 19812545
nsv442239 CNV gain 18776908

Variation tolerance for MTNR1B Gene

Residual Variation Intolerance Score: 70% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.83; 58.59% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for MTNR1B Gene

Human Gene Mutation Database (HGMD)
MTNR1B
SNPedia medical, phenotypic, and genealogical associations of SNPs for
MTNR1B
Leiden Open Variation Database (LOVD)
MTNR1B

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MTNR1B Gene

Disorders for MTNR1B Gene

MalaCards: The human disease database

(8) MalaCards diseases for MTNR1B Gene - From: OMI, CVR, GTR, COP, and GCD

Disorder Aliases PubMed IDs
type 2 diabetes mellitus
  • t2d
idiopathic scoliosis
  • scoliosis idiopathic
gestational diabetes
  • gdm
diabetes mellitus
  • diabetes
scoliosis
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for MTNR1B

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with MTNR1B: view

No data available for UniProtKB/Swiss-Prot and Genatlas for MTNR1B Gene

Publications for MTNR1B Gene

  1. MTNR1B G24E variant associates With BMI and fasting plasma glucose in the general population in studies of 22,142 Europeans. (PMID: 20200315) Andersson EA … Hansen T (Diabetes 2010) 3 22 40
  2. Variants in MTNR1B influence fasting glucose levels. (PMID: 19060907) Prokopenko I … Abecasis GR (Nature genetics 2009) 3 22 40
  3. Common variant in MTNR1B associated with increased risk of type 2 diabetes and impaired early insulin secretion. (PMID: 19060908) Lyssenko V … Groop L (Nature genetics 2009) 3 22 40
  4. A common variant in MTNR1B, encoding melatonin receptor 1B, is associated with type 2 diabetes and fasting plasma glucose in Han Chinese individuals. (PMID: 19241057) Rönn T … Ling C (Diabetologia 2009) 3 22 40
  5. Combined effects of single-nucleotide polymorphisms in GCK, GCKR, G6PC2 and MTNR1B on fasting plasma glucose and type 2 diabetes risk. (PMID: 19533084) Reiling E … 't Hart LM (Diabetologia 2009) 3 22 40

Products for MTNR1B Gene

Sources for MTNR1B Gene