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