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FLASH GENE
Symbol MTNR1B contributors: mct - updated : 22-11-2012
HGNC name melatonin receptor 1B
HGNC id 7464
Location 11q14.3      Physical location : 92.702.788 - 92.715.948
Synonym name
  • melatonin receptor MEL1B
  • Mel1b melatonin receptor
    • Synonym symbol(s) MEL1B, MEL-1B-R, MT2, FGQTL2
    DNA
    TYPE functioning gene
    STRUCTURE 13.16 kb     2 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status confirmed
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    2 - 1662 - 362 - 2009 19340560
    EXPRESSION
    Rna function islets pancreatic
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Nervousbrain     Homo sapiens
    Visualeyeretina    Homo sapiens
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Visualbipolar cell
    Visualganglion cell
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • seven transmembrane segments (7TM) receptor
  • C-terminal domain involved in internalization processes
    • HOMOLOGY
    Homologene
    FAMILY
  • G-protein coupled receptor 1 family
    • CATEGORY receptor membrane G
    SUBCELLULAR LOCALIZATION     plasma membrane
    basic FUNCTION
  • involved in the modulation of circadian rhythms
  • may indeed be involved in transmitting melatonin's effects in the retina
  • implicated in the regulation of fasting glucose levels and predisposition to type 2 diabetes
  • role of melatonin receptors (MTNR1B) in pancreatic beta-cell function
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS circadian
    PATHWAY
    metabolism
    signaling hormonal
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --low  
    in Alzheimer disease
    Susceptibility
  • to type 2 diabetes (T2D)
  • to gestational diabetes mellitus (GDM)
  • to autism spectrum disorders
    • Variant & Polymorphism other
  • SNP that augment expression and/or activity of islet melatonin receptors, increasing risk of type 2 diabetes
  • mutations were found in upstream regulatory regions in autism spectrum disorders
  • association of GDM with the rs10830963 (C/G) variant i
    • Candidate gene
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    diabete  
    blocking the melatonin ligand-receptor system could be a therapeutic avenue in T2D
    ANIMAL & CELL MODELS