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FLASH GENE
Symbol NR1H2 contributors: mct - updated : 22-10-2015
HGNC name nuclear receptor subfamily 1, group H, member 2
HGNC id 7965
EXPRESSION
Type ubiquitous
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Digestiveintestinesmall intestine  highly
Nervousbrain   highly
Skin/Tegumentskin   highly
Visualeye   highly
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Blood / Hematopoieticbone marrow   
Connectivebone   
Muscularstriatumskeletal  
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • a N terminal modulator domain
  • a central bipartite (class II C4) zinc finger DNA binding domain
  • C terminal ligand binding domain of hormone receptor
  • mono polymer heteromer , dimer
    HOMOLOGY
    Homologene
    FAMILY
  • nuclear hormone receptors family, NR1 subfamily
  • CATEGORY DNA associated , receptor
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm
    intracellular,nucleus,nucleoplasm
    basic FUNCTION
  • nuclear receptor, modulating gene activation by retinoic acid and thyroid hormone receptors
  • nuclear oxysterol receptors with established roles in cholesterol, lipid, and carbohydrate metabolism
  • required for the increase in adipocyte size that normally occurs with aging and diet-induced obesity, for adipocyte growth, glucose homeostasis, and beta cell function, and for expression of the cholesterol transporters, ABCA1 and ABCG1
  • NR1H2, NR1H3 are negative regulators of cardiac growth and inflammation via suppressing NF-kappaB signalling in cardiomyocytes
  • induces the transcription of genes that protect cells from cholesterol overload
  • potential role in glucose metabolism in skeletal muscle
  • possible role as a transcriptional regulator in preeclampsia
  • NR1H2 and NR1H3 play a crucial role in control of insulin production and secretion in pancreatic beta-cells (
  • potentially NR1H2 as well as NR1H3 could play a crucial role in the regulation of energy homeostasis
  • NR1H2, NR1H3 play central roles in the transcriptional control of lipid metabolism
  • can cause a post-translational response by binding directly to ABCA1, as well as a transcriptional response, to maintain cholesterol homeostasis
  • CELLULAR PROCESS nucleotide, transcription
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling hormonal
    a component LXR/RXR heterodimer
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • RXR to regulating ABCA1 and cholesterol efflux process
  • modulator of ALK1 signaling
  • CIDEA binds to liver X receptors (NR1H2, NR1H3) and regulates their activity (could therefore be of importance for the regulation of metabolic processes in human adipose tissue)
  • MID1IP1 is a mediator for stimulation of lipogenesis by NR1H2, NR1H3 activation in the liver
  • directly binds to the C-terminal region of ABCA1 to mediate its post-translational regulation
  • PIAS1 was able to interact with NR1H2 and repress its transcriptional activity upon ligand stimulation, which did not require PIAS1-promoted SUMO modification of NR1H2
  • suppressive action of PIAS1 on NR1H2, NR1H3-activated gene expression programs, particularly in lipogenesis
  • EEPD1 is a novel NR1H2, NR1H3-regulated gene in macrophages and likely it promotes cellular cholesterol efflux by controlling cellular levels and activity of ABCA1
  • cell & other
    REGULATION
    activated by endogenous oxysterols, oxidized derivatives of cholesterol
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Susceptibility
  • to type 2 diabetes
  • Variant & Polymorphism SNP
  • two single nucleotide polymorphisms, LB44732G>A and rs2695121, were associated with obesity phenotypes
  • common variation within the NR1H2 gene impaired insulin secretion, which may facilitate the development of type 2 diabetes
  • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • mice lacking Nr1h2, Nr1h3 manifested a breakdown in self-tolerance and developed autoantibodies and autoimmune glomerulonephritis