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FLASH GENE
Symbol NR1H2 contributors: mct - updated : 22-10-2011
HGNC name nuclear receptor subfamily 1, group H, member 2
HGNC id 7965
Location 19q13.33      Physical location : 50.879.684 - 50.886.266
Synonym name
  • ubiquitously-expressed nuclear receptor
  • LX receptor beta
  • liver X receptor beta
  • nuclear orphan receptor LXR-beta
  • oxysterols receptor LXR-beta
  • Synonym symbol(s) UNR, NER, LXRB, RIP15, LXR-b, NER-I
    DNA
    TYPE functioning gene
    STRUCTURE 6.58 kb     10 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    Physical map
    AP2A1 19q13.3 adaptor-related protein complex 2, alpha 1 subunit FLJ22688 19q13.33 hypothetical protein FLJ22688 TCBAP0758 19q13.3 hypothetical protein TCBAP0758 PTOV1 19q13.33 prostate tumor over expressed gene 1 PNKP 19q13.3-q13.4 polynucleotide kinase 3'-phosphatase MGC2865 19q13.33 hypothetical protein MGC2865 FLJ12168 IL4I1 19q13.3-q13.4 interleukin 4 induced 1 NUP62 19q13.33 nucleoporin 62kDa ATF5 19q13.3 activating transcription factor 5 SIGLEC11 19q13.33 sialic acid binding Ig-like lectin 11 VRK3 19q13 vaccinia related kinase 3 ZNF473 19q13.33 zinc finger protein 473 LOC342917 19q13.33 similar to kruppel-related zinc finger protein MGC33947 19q13.33 hypothetical protein MGC33947 MYH14 19q13.33 myosin, heavy polypeptide 14 KCNC3 19q13.3 potassium voltage-gated channel, Shaw-related subfamily, member 3 NAP1L 19q13.33 potassium voltage-gated channel, Shaw-related subfamily, member 3 NAP1 19q13.33 pronapsin A NR1H2 19q13.3 nuclear receptor subfamily 1, group H, member 2 POLD1 19q13.3 polymerase (DNA directed), delta 1, catalytic subunit 125kDa SPIB 19q13.3 Spi-B transcription factor (Spi-1/PU.1 related) MYBPC2 19q13.3 myosin binding protein C, fast type LOC284361 19q13.33-q13.41 hypothetical protein LOC284361 SBBI54 19q13.41 hypothetical transmembrane protein SBBI54 LOC284363 19q13.41 similar to RIKEN cDNA 0610012D14 DKFZp761A179 SYT3 19q13.4 synaptotagmin III LOC342918 19q13.41 hypothetical LOC342918 SHANK1 19q13.3 SH3 and multiple ankyrin repeat domains 1 SCGF 19q13.3 stem cell growth factor; lymphocyte secreted C-type lectin GPR32P 19q13.3 G protein-coupled receptor 32, pseudogene GPR32 19q13.3 G protein-coupled receptor 32 ACPT 19q13.4 acid phosphatase, testicular MGC13170 19q13.41 multidrug resistance-related protein MGC45922 19q13.41 hypothetical gene MGC45922 KLK1 19q13.4 kallikrein 1, renal/pancreas/salivary KLK15 19q13.4 kallikrein 1, renal/pancreas/salivary KLK3 19q13.3 kallikrein 3, (prostate specific antigen)
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    10 - 2087 - 461 - 2011 21507939
    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
  • 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)
  • directly binds to the C-terminal region of ABCA1 to mediate its post-translational regulation
  • 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