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FLASH GENE
Symbol MTNR1B contributors: mct - updated : 22-11-2012
HGNC name melatonin receptor 1B
HGNC id 7464
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