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

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; AllianceGenome:HGNC:7965
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: mouse all
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Genomic context

Location:: 19q13.33

Exon count:: 10

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	19	NC_000019.10 (50376457..50383388)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	19	NC_060943.1 (53464005..53470940)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	19	NC_000019.9 (50879714..50886645)

Chromosome 19 - NC_000019.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Inhibition of LXR controls the polarization of human inflammatory macrophages through upregulation of MAFB.
Title: Inhibition of LXR controls the polarization of human inflammatory macrophages through upregulation of MAFB.
Insulin Downregulates the Expression of ATP-binding Cassette Transporter A-I in Human Hepatoma Cell Line HepG2 in a FOXO1 and LXR Dependent Manner.
Title: Insulin Downregulates the Expression of ATP-binding Cassette Transporter A-I in Human Hepatoma Cell Line HepG2 in a FOXO1 and LXR Dependent Manner.
Liver X receptor controls follicular helper T cell differentiation via repression of TCF-1.
Title: Liver X receptor controls follicular helper T cell differentiation via repression of TCF-1.
CYP27A1 inhibits proliferation and migration of clear cell renal cell carcinoma via activation of LXRs/ABCA1.
Title: CYP27A1 inhibits proliferation and migration of clear cell renal cell carcinoma via activation of LXRs/ABCA1.
MIG12 is involved in the LXR activation-mediated induction of the polymerization of mammalian acetyl-CoA carboxylase.
Title: MIG12 is involved in the LXR activation-mediated induction of the polymerization of mammalian acetyl-CoA carboxylase.
Liver X receptor inhibits the growth of hepatocellular carcinoma cells via regulating HULC/miR-134-5p/FOXM1 axis.
Title: Liver X receptor inhibits the growth of hepatocellular carcinoma cells via regulating HULC/miR-134-5p/FOXM1 axis.
Photoaffinity Labeling and Quantitative Chemical Proteomics Identify LXRbeta as the Functional Target of Enhancers of Astrocytic apoE.
Title: Photoaffinity Labeling and Quantitative Chemical Proteomics Identify LXRβ as the Functional Target of Enhancers of Astrocytic apoE.
Cytoplasmic LXR expression is an independent marker of poor prognosis for patients with early stage primary breast cancer.
Title: Cytoplasmic LXR expression is an independent marker of poor prognosis for patients with early stage primary breast cancer.
LXRbeta is involved in the control of platelet production from megakaryocytes.
Title: LXRβ is involved in the control of platelet production from megakaryocytes.
Liver X Receptor beta Related to Tumor Progression and Ribosome Gene Expression in Papillary Thyroid Cancer.
Title: Liver X Receptor β Related to Tumor Progression and Ribosome Gene Expression in Papillary Thyroid Cancer.

Submit: New GeneRIF Correction See all GeneRIFs (123)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D11S2921 (e-PCR)
- UniSTS:152074

L18426 (e-PCR)
- UniSTS:34648

D1S1423 (e-PCR)
- UniSTS:149619

RH70542 (e-PCR)
- UniSTS:85178

D5S1597E (e-PCR)
- UniSTS:151019

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ATPase binding	IPI Inferred from Physical Interaction more info	PubMed
enables DNA binding	TAS Traceable Author Statement more info	PubMed
enables DNA-binding transcription activator activity, RNA polymerase II-specific	IDA Inferred from Direct Assay more info	PubMed
enables DNA-binding transcription factor activity, RNA polymerase II-specific	ISA Inferred from Sequence Alignment more info
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables apolipoprotein A-I receptor binding	IPI Inferred from Physical Interaction more info	PubMed
enables chromatin DNA binding	IEA Inferred from Electronic Annotation more info
enables nuclear receptor activity	IBA Inferred from Biological aspect of Ancestor more info
enables nuclear retinoid X receptor binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables zinc ion binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in cell differentiation	IBA Inferred from Biological aspect of Ancestor more info
involved_in cholesterol homeostasis	ISS Inferred from Sequence or Structural Similarity more info
involved_in hormone-mediated signaling pathway	ISS Inferred from Sequence or Structural Similarity more info
involved_in intracellular receptor signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in mRNA transcription by RNA polymerase II	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of DNA-templated transcription	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of cholesterol storage	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of cold-induced thermogenesis	ISS Inferred from Sequence or Structural Similarity more info	PubMed
involved_in negative regulation of lipid transport	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of macrophage derived foam cell differentiation	IC Inferred by Curator more info	PubMed
involved_in negative regulation of pinocytosis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of proteolysis	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of response to endoplasmic reticulum stress	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of type II interferon-mediated signaling pathway	NAS Non-traceable Author Statement more info	PubMed
involved_in phosphatidylcholine acyl-chain remodeling	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of DNA-templated transcription	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of cholesterol efflux	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of cholesterol transport	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of fatty acid biosynthetic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of high-density lipoprotein particle assembly	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of lipid storage	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of lipoprotein lipase activity	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of miRNA transcription	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of pancreatic juice secretion	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of protein metabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of secretion of lysosomal enzymes	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of transcription by RNA polymerase II	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of transcription by RNA polymerase II	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of transcription by RNA polymerase II	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of triglyceride biosynthetic process	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
part_of RNA polymerase II transcription regulator complex	IBA Inferred from Biological aspect of Ancestor more info
part_of RNA polymerase II transcription regulator complex	IPI Inferred from Physical Interaction more info	PubMed
part_of RNA polymerase II transcription regulator complex	ISS Inferred from Sequence or Structural Similarity more info
located_in chromatin	ISA Inferred from Sequence Alignment more info
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	TAS Traceable Author Statement more info
located_in nucleoplasm	TAS Traceable Author Statement more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed

General protein information

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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)

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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)

NM_001256647.3 → NP_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)

AC008655, AI252503, AK297978, BC047750, DA053472

Consensus CDS

CCDS58673.1

Related

ENSP00000396151.2, ENST00000411902.6

Conserved Domains (2) summary

cd06954
Location:126 → 361

NR_LBD_LXR; The ligand binding domain of Liver X receptors, a family of nuclear receptors of ligand-activated transcription factors

pfam15822
Location:12 → 64

MISS; MAPK-interacting and spindle-stabilizing protein-like
NM_007121.7 → NP_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)

AC008655, AI252503, BC047750, DA053472

Consensus CDS

CCDS42593.1

UniProtKB/Swiss-Prot

A8K490, B4DNM6, E7EWA6, P55055, Q12970, Q5I0Y1

UniProtKB/TrEMBL

B6ZGS7, Q6IBU6

Related

ENSP00000253727.4, ENST00000253727.10

Conserved Domains (3) summary

cd06954
Location:223 → 458

NR_LBD_LXR; The ligand binding domain of Liver X receptors, a family of nuclear receptors of ligand-activated transcription factors

cd07160
Location:67 → 169

NR_DBD_LXR; DNA-binding domain of Liver X receptors (LXRs) family is composed of two C4-type zinc fingers

pfam07174
Location:4 → 71

FAP; Fibronectin-attachment protein (FAP)