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

Gene ID: 4544, updated on 8-Dec-2018

Summary

Official Symbol
MTNR1Bprovided by HGNC
Official Full Name
melatonin receptor 1Bprovided by HGNC
Primary source
HGNC:HGNC:7464
See related
Ensembl:ENSG00000134640 MIM:600804
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

Genomic context

See MTNR1B in Genome Data Viewer
Location:
11q14.3
Exon count:
4
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 11 NC_000011.10 (92969623..92986241)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (92702789..92715948)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105369431 Neighboring gene eukaryotic translation elongation factor 1 alpha 2 pseudogene Neighboring gene small nuclear ribonucleoprotein polypeptide G pseudogene 16 Neighboring gene ribosomal protein L26 pseudogene 31 Neighboring gene solute carrier family 36 member 4 Neighboring gene 6.8 kDa mitochondrial proteolipid-like

Genomic regions, transcripts, and products

Expression

  • 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 Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Diabetes mellitus type 2
MedGen: C0011860 OMIM: 125853 GeneReviews: Not available
not available

NHGRI GWAS Catalog

Description
A genome-wide approach accounting for body mass index identifies genetic variants influencing fasting glycemic traits and insulin resistance.
NHGRI GWA Catalog
A genome-wide association study of caffeine-related sleep disturbance: confirmation of a role for a common variant in the adenosine receptor.
NHGRI GWA Catalog
A genome-wide association study of gestational diabetes mellitus in Korean women.
NHGRI GWA Catalog
A variant near MTNR1B is associated with increased fasting plasma glucose levels and type 2 diabetes risk.
NHGRI GWA 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.
NHGRI GWA Catalog
Common variants at 10 genomic loci influence hemoglobin A₁(C) levels via glycemic and nonglycemic pathways.
NHGRI GWA Catalog
Fasting glucose GWAS candidate region analysis across ethnic groups in the Multiethnic Study of Atherosclerosis (MESA).
NHGRI GWA Catalog
Genome-wide association analysis of metabolic traits in a birth cohort from a founder population.
NHGRI GWA Catalog
Genome-wide association meta-analysis identifies novel variants associated with fasting plasma glucose in East Asians.
NHGRI GWA Catalog
Genome-wide association study identifies a region on chromosome 11q14.3 associated with late rectal bleeding following radiation therapy for prostate cancer.
NHGRI GWA Catalog
Genome-wide association study identifies multiple loci influencing human serum metabolite levels.
NHGRI GWA 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.
NHGRI GWA Catalog
Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility.
NHGRI GWA Catalog
Identification of HKDC1 and BACE2 as genes influencing glycemic traits during pregnancy through genome-wide association studies.
NHGRI GWA Catalog
Large-scale genome-wide association studies in East Asians identify new genetic loci influencing metabolic traits.
NHGRI GWA Catalog
New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk.
NHGRI GWA 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.
NHGRI GWA Catalog
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
NHGRI GWA Catalog
Twelve type 2 diabetes susceptibility loci identified through large-scale association analysis.
NHGRI GWA Catalog
Variants in MTNR1B influence fasting glucose levels.
NHGRI GWA Catalog

Pathways from BioSystems

  • Circadian entrainment, organism-specific biosystem (from KEGG)
    Circadian entrainment, organism-specific biosystemCircadian entrainment is a fundamental property by which the period of the internal biological clock is entrained by recurring exogenous signals, such that the organism's endocrine and behavioral rhy...
  • Circadian entrainment, conserved biosystem (from KEGG)
    Circadian entrainment, conserved biosystemCircadian entrainment is a fundamental property by which the period of the internal biological clock is entrained by recurring exogenous signals, such that the organism's endocrine and behavioral rhy...
  • Circadian rythm related genes, organism-specific biosystem (from WikiPathways)
    Circadian rythm related genes, organism-specific biosystemThis is currently not a pathway but a list of circadian rhythm related genes and proteins. The source for this information is the gene ontology. The genes and proteins were filtered for "circadian rh...
  • Class A/1 (Rhodopsin-like receptors), organism-specific biosystem (from REACTOME)
    Class A/1 (Rhodopsin-like receptors), organism-specific biosystemRhodopsin-like receptors (class A/1) are the largest group of GPCRs and are the best studied group from a functional and structural point of view. They show great diversity at the sequence level and ...
  • G alpha (i) signalling events, organism-specific biosystem (from REACTOME)
    G alpha (i) signalling events, organism-specific biosystemThe classical signalling mechanism for G alpha (i) is inhibition of the cAMP dependent pathway through inhibition of adenylate cyclase. Decreased production of cAMP from ATP results in decreased act...
  • GPCR downstream signaling, organism-specific biosystem (from REACTOME)
    GPCR downstream signaling, organism-specific biosystemG protein-coupled receptors (GPCRs) are classically defined as the receptor, G-protein and downstream effectors, the alpha subunit of the G-protein being the primary signaling molecule. However, it h...
  • GPCR ligand binding, organism-specific biosystem (from REACTOME)
    GPCR ligand binding, organism-specific biosystemThere are more than 800 G-protein coupled receptor (GPCRs) in the human genome, making it the largest receptor superfamily. GPCRs are also the largest class of drug targets, involved in virtually all...
  • GPCRs, Class A Rhodopsin-like, organism-specific biosystem (from WikiPathways)
    GPCRs, Class A Rhodopsin-like, organism-specific biosystemThis pathway was created using the GPCRDB (Horn et al., 1998), http://www.gpcr.org/7tm/ (originally at http://www.cmbi.kun.nl/7tm/). The groupings are based on the GPCR phylogenetic tree available fr...
  • Neuroactive ligand-receptor interaction, organism-specific biosystem (from KEGG)
    Neuroactive ligand-receptor interaction, organism-specific biosystem
    Neuroactive ligand-receptor interaction
  • Neuroactive ligand-receptor interaction, conserved biosystem (from KEGG)
    Neuroactive ligand-receptor interaction, conserved biosystem
    Neuroactive ligand-receptor interaction
  • Signal Transduction, organism-specific biosystem (from REACTOME)
    Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
  • Signaling by GPCR, organism-specific biosystem (from REACTOME)
    Signaling by GPCR, organism-specific biosystemG protein-coupled receptors (GPCRs; 7TM receptors; seven transmembrane domain receptors; heptahelical receptors; G protein-linked receptors [GPLR]) are the largest family of transmembrane receptors i...
  • Small Ligand GPCRs, organism-specific biosystem (from WikiPathways)
    Small Ligand GPCRs, organism-specific biosystem
    Small Ligand GPCRs

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
G protein-coupled receptor activity TAS
Traceable Author Statement
more info
PubMed 
melatonin receptor activity IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
G protein-coupled receptor signaling pathway TAS
Traceable Author Statement
more info
 
G protein-coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger TAS
Traceable Author Statement
more info
PubMed 
camera-type eye development IEA
Inferred from Electronic Annotation
more info
 
chemical synaptic transmission TAS
Traceable Author Statement
more info
PubMed 
glucose homeostasis IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of cGMP-mediated signaling IEA
Inferred from Electronic Annotation
more info
 
negative regulation of cytosolic calcium ion concentration IEA
Inferred from Electronic Annotation
more info
 
negative regulation of delayed rectifier potassium channel activity IEA
Inferred from Electronic Annotation
more info
 
negative regulation of insulin secretion IEA
Inferred from Electronic Annotation
more info
 
negative regulation of neuron apoptotic process IEA
Inferred from Electronic Annotation
more info
 
negative regulation of transmission of nerve impulse IEA
Inferred from Electronic Annotation
more info
 
positive regulation of blood vessel diameter IEA
Inferred from Electronic Annotation
more info
 
positive regulation of circadian sleep/wake cycle, non-REM sleep IEA
Inferred from Electronic Annotation
more info
 
positive regulation of transmission of nerve impulse IEA
Inferred from Electronic Annotation
more info
 
regulation of insulin secretion IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of neuronal action potential IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
integral component of plasma membrane TAS
Traceable Author Statement
more info
PubMed 
plasma membrane TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
melatonin receptor type 1B
Names
mel1b receptor
melatonin receptor 1B variant b
melatonin receptor MEL1B

NCBI Reference Sequences (RefSeq)

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
    5001..18160
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_005959.3NP_005950.1  melatonin receptor type 1B

    See identical proteins and their annotated locations for NP_005950.1

    Status: REVIEWED

    Source sequence(s)
    BC069163
    Consensus CDS
    CCDS8290.1
    UniProtKB/Swiss-Prot
    P49286
    Related
    ENSP00000257068.2, ENST00000257068.2
    Conserved Domains (2) summary
    pfam00001
    Location:57308
    7tm_1; 7 transmembrane receptor (rhodopsin family)
    cl21561
    Location:48192
    7tm_4; Olfactory receptor

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p12 Primary Assembly

    Range
    92969623..92986241
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011542839.2XP_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:57308
    7tm_1; 7 transmembrane receptor (rhodopsin family)
    cl21561
    Location:48192
    7tm_4; Olfactory receptor
  2. XM_017017777.1XP_016873266.1  melatonin receptor type 1B isoform X1

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