Format

Send to:

Choose Destination

NR1H2 nuclear receptor subfamily 1 group H member 2 [ Homo sapiens (human) ]

Gene ID: 7376, updated on 31-Dec-2018

Summary

Official Symbol
NR1H2provided by HGNC
Official Full Name
nuclear receptor subfamily 1 group H member 2provided by HGNC
Primary source
HGNC:HGNC:7965
See related
Ensembl:ENSG00000131408 MIM:600380
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
NER; UNR; LXRB; LXR-b; NER-I; RIP15
Summary
The liver X receptors, LXRA (NR1H3; MIM 602423) and LXRB, form a subfamily of the nuclear receptor superfamily and are key regulators of macrophage function, controlling transcriptional programs involved in lipid homeostasis and inflammation. The inducible LXRA is highly expressed in liver, adrenal gland, intestine, adipose tissue, macrophages, lung, and kidney, whereas LXRB is ubiquitously expressed. Ligand-activated LXRs form obligate heterodimers with retinoid X receptors (RXRs; see MIM 180245) and regulate expression of target genes containing LXR response elements (summary by Korf et al., 2009 [PubMed 19436111]).[supplied by OMIM, Jan 2010]
Expression
Ubiquitous expression in bone marrow (RPKM 38.7), spleen (RPKM 21.5) and 25 other tissues See more
Orthologs

Genomic context

See NR1H2 in Genome Data Viewer
Location:
19q13.33
Exon count:
10
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 19 NC_000019.10 (50376423..50383028)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (50879680..50886285)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105372437 Neighboring gene napsin B aspartic peptidase, pseudogene Neighboring gene napsin A aspartic peptidase Neighboring gene DNA polymerase delta 1, catalytic subunit Neighboring gene Spi-B transcription factor

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Pathways from BioSystems

  • Gene Expression, organism-specific biosystem (from REACTOME)
    Gene Expression, organism-specific biosystemGene Expression covers the pathways by which genomic DNA is transcribed to yield RNA, the regulation of these transcription processes, and the pathways by which newly-made RNA Transcripts are process...
  • Generic Transcription Pathway, organism-specific biosystem (from REACTOME)
    Generic Transcription Pathway, organism-specific biosystemOVERVIEW OF TRANSCRIPTION REGULATION: Detailed studies of gene transcription regulation in a wide variety of eukaryotic systems has revealed the general principles and mechanisms by which cell- or t...
  • Insulin resistance, organism-specific biosystem (from KEGG)
    Insulin resistance, organism-specific biosystemInsulin resistance is a condition where cells become resistant to the effects of insulin. It is often found in people with health disorders, including obesity, type 2 diabetes mellitus, non-alcoholic...
  • Lipid digestion, mobilization, and transport, organism-specific biosystem (from REACTOME)
    Lipid digestion, mobilization, and transport, organism-specific biosystemProcesses annotated here include the digestion of dietary lipids, sterol uptake, the formation and turnover of lipoproteins (chylomicrons, VLDL, LDL, and HDL), and the mobilization of fatty acids thr...
  • Lipoprotein metabolism, organism-specific biosystem (from REACTOME)
    Lipoprotein metabolism, organism-specific biosystemBecause of their hydrophobicity, lipids are found in the extracellular spaces of the human body primarily in the form of lipoprotein complexes. Chylomicrons form in the small intestine and transport ...
  • Metabolism, organism-specific biosystem (from REACTOME)
    Metabolism, organism-specific biosystemMetabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as th...
  • Metabolism of lipids and lipoproteins, organism-specific biosystem (from REACTOME)
    Metabolism of lipids and lipoproteins, organism-specific biosystemLipids are hydrophobic but otherwise chemically diverse molecules that play a wide variety of roles in human biology. They include ketone bodies, fatty acids, triacylglycerols, phospholipids and sphi...
  • Nuclear Receptor transcription pathway, organism-specific biosystem (from REACTOME)
    Nuclear Receptor transcription pathway, organism-specific biosystemA classic example of bifunctional transcription factors is the family of Nuclear Receptor (NR) proteins. These are DNA-binding transcription factors that bind certain hormones, vitamins, and other s...
  • Nuclear Receptors, organism-specific biosystem (from WikiPathways)
    Nuclear Receptors, organism-specific biosystemNuclear receptors are a class of proteins found within the interior of cells that are responsible for sensing the presence of steroid and thyroid hormones and certain other molecules. In response, th...
  • Sterol Regulatory Element-Binding Proteins (SREBP) signalling, organism-specific biosystem (from WikiPathways)
    Sterol Regulatory Element-Binding Proteins (SREBP) signalling, organism-specific biosystemSterol regulatory element-binding proteins (SREBPs) are membrane-bound proteins that act as transcription factors. They regulate lipid, especially cholesterol, biosynthesis and uptake at a transcript...
  • VLDL interactions, organism-specific biosystem (from REACTOME)
    VLDL interactions, organism-specific biosystemVery-low-density lipoprotein (VLDL) is a lipoprotein made by the liver (Gibbons et al. 2004) and is one of the five major groups of lipoproteins (chylomicrons, VLDL, LDL, IDL and HDL) that enable fat...
  • VLDLR internalisation and degradation, organism-specific biosystem (from REACTOME)
    VLDLR internalisation and degradation, organism-specific biosystemThe steps involved in proprotein convertase PCSK9-induced degradation of VLDLR are described here (Poirier et al. 2008).

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ17564

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ATPase binding IPI
Inferred from Physical Interaction
more info
PubMed 
DNA binding TAS
Traceable Author Statement
more info
PubMed 
DNA-binding transcription activator activity, RNA polymerase II-specific IDA
Inferred from Direct Assay
more info
PubMed 
DNA-binding transcription factor activity, RNA polymerase II-specific IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
DNA-binding transcription factor activity, RNA polymerase II-specific ISA
Inferred from Sequence Alignment
more info
 
DNA-binding transcription factor activity, RNA polymerase II-specific ISM
Inferred from Sequence Model
more info
PubMed 
DNA-binding transcription factor activity, RNA polymerase II-specific NAS
Non-traceable Author Statement
more info
PubMed 
RNA polymerase II proximal promoter sequence-specific DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
RNA polymerase II regulatory region sequence-specific DNA binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
apolipoprotein A-I receptor binding IPI
Inferred from Physical Interaction
more info
PubMed 
nuclear receptor activity IEA
Inferred from Electronic Annotation
more info
 
nuclear receptor transcription coactivator activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
retinoid X receptor binding IEA
Inferred from Electronic Annotation
more info
 
signaling receptor activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
steroid hormone receptor activity IEA
Inferred from Electronic Annotation
more info
 
transcription factor binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
transcription regulatory region sequence-specific DNA binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
zinc ion binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
cell differentiation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cellular lipid metabolic process IEA
Inferred from Electronic Annotation
more info
 
cellular response to lipopolysaccharide IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cholesterol homeostasis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cholesterol homeostasis ISS
Inferred from Sequence or Structural Similarity
more info
 
lipid homeostasis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
lipid metabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
multicellular organism development IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
negative regulation of cholesterol storage IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of cold-induced thermogenesis ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
negative regulation of interferon-gamma-mediated signaling pathway NAS
Non-traceable Author Statement
more info
PubMed 
negative regulation of lipid transport IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of macrophage derived foam cell differentiation IC
Inferred by Curator
more info
PubMed 
negative regulation of pinocytosis IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of proteolysis IEA
Inferred from Electronic Annotation
more info
 
negative regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
negative regulation of transcription, DNA-templated IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of cellular protein metabolic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of cholesterol efflux IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of cholesterol transport IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of fatty acid biosynthetic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of high-density lipoprotein particle assembly IEA
Inferred from Electronic Annotation
more info
 
positive regulation of lipid storage IEA
Inferred from Electronic Annotation
more info
 
positive regulation of lipoprotein lipase activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of pancreatic juice secretion IEA
Inferred from Electronic Annotation
more info
 
positive regulation of secretion of lysosomal enzymes IEA
Inferred from Electronic Annotation
more info
 
positive regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
positive regulation of transcription by RNA polymerase II IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of transcription by RNA polymerase II IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of transcription, DNA-templated IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of triglyceride biosynthetic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
retinoic acid receptor signaling pathway IEA
Inferred from Electronic Annotation
more info
 
steroid hormone mediated signaling pathway IEA
Inferred from Electronic Annotation
more info
 
transcription initiation from RNA polymerase II promoter TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
RNA polymerase II transcription factor complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
nucleoplasm TAS
Traceable Author Statement
more info
 
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
oxysterols receptor LXR-beta
Names
LX receptor beta
liver X nuclear receptor beta
nuclear orphan receptor LXR-beta
nuclear receptor NER
steroid hormone-nuclear receptor NER
ubiquitously-expressed nuclear receptor

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001256647.2NP_001243576.2  oxysterols receptor LXR-beta isoform 2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) lacks an exon in the 5' coding region, but maintains the reading frame, compared to variant 1. The encoded isoform (2) is shorter than isoform 1.
    Source sequence(s)
    AI252503, AK297978, BC047750, DA053472
    Consensus CDS
    CCDS58673.1
    Related
    ENSP00000396151.2, ENST00000411902.6
    Conserved Domains (2) summary
    cd06954
    Location:126361
    NR_LBD_LXR; The ligand binding domain of Liver X receptors, a family of nuclear receptors of ligand-activated transcription factors
    pfam15822
    Location:1264
    MISS; MAPK-interacting and spindle-stabilizing protein-like
  2. NM_007121.6NP_009052.4  oxysterols receptor LXR-beta isoform 1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AI252503, BC047750, DA053472
    Consensus CDS
    CCDS42593.1
    Related
    ENSP00000253727.4, ENST00000253727.9
    Conserved Domains (3) summary
    cd06954
    Location:223458
    NR_LBD_LXR; The ligand binding domain of Liver X receptors, a family of nuclear receptors of ligand-activated transcription factors
    cd07160
    Location:67169
    NR_DBD_LXR; DNA-binding domain of Liver X receptors (LXRs) family is composed of two C4-type zinc fingers
    pfam07174
    Location:471
    FAP; Fibronectin-attachment protein (FAP)

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p12 Primary Assembly

    Range
    50376423..50383028
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Support Center