Human Gene NR1H2 (ENST00000253727.10_6) from GENCODE V47lift37
  Description: nuclear receptor subfamily 1 group H member 2, transcript variant 1 (from RefSeq NM_007121.7)
Gencode Transcript: ENST00000253727.10_6
Gencode Gene: ENSG00000131408.15_17
Transcript (Including UTRs)
   Position: hg19 chr19:50,879,714-50,886,645 Size: 6,932 Total Exon Count: 10 Strand: +
Coding Region
   Position: hg19 chr19:50,880,863-50,885,859 Size: 4,997 Coding Exon Count: 8 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr19:50,879,714-50,886,645)mRNA (may differ from genome)Protein (460 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGeneCardsHGNC
MalacardsMGIOMIMPubMedReactomeUniProtKB
WikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: NR1H2_HUMAN
DESCRIPTION: RecName: Full=Oxysterols receptor LXR-beta; AltName: Full=Liver X receptor beta; AltName: Full=Nuclear receptor NER; AltName: Full=Nuclear receptor subfamily 1 group H member 2; AltName: Full=Ubiquitously-expressed nuclear receptor;
FUNCTION: Orphan receptor. Binds preferentially to double-stranded oligonucleotide direct repeats having the consensus half-site sequence 5'-AGGTCA-3' and 4-nt spacing (DR-4). Regulates cholesterol uptake through MYLIP-dependent ubiquitination of LDLR, VLDLR and LRP8 (By similarity).
SUBUNIT: Forms a heterodimer with RXR.
INTERACTION: Q99750:MDFI; NbExp=3; IntAct=EBI-745354, EBI-724076;
SUBCELLULAR LOCATION: Nucleus (Potential).
TISSUE SPECIFICITY: Ubiquitous.
SIMILARITY: Belongs to the nuclear hormone receptor family. NR1 subfamily.
SIMILARITY: Contains 1 nuclear receptor DNA-binding domain.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: NR1H2
Diseases sorted by gene-association score: complete androgen insensitivity syndrome (17), thyroid hormone resistance (13), rickets, vitamin d-resistant, type iia (9), prostate disease (7), biliary tract disease (6), diabetes mellitus, noninsulin-dependent (1), leukemia, acute promyelocytic, somatic (1)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 45.30 RPKM in Artery - Tibial
Total median expression: 1420.15 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -89.60247-0.363 Picture PostScript Text
3' UTR -340.30786-0.433 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR023257 - Liver_X_rcpt
IPR008946 - Nucl_hormone_rcpt_ligand-bd
IPR000536 - Nucl_hrmn_rcpt_lig-bd_core
IPR001723 - Str_hrmn_rcpt
IPR001628 - Znf_hrmn_rcpt
IPR013088 - Znf_NHR/GATA

Pfam Domains:
PF00104 - Ligand-binding domain of nuclear hormone receptor
PF00105 - Zinc finger, C4 type (two domains)

SCOP Domains:
48508 - Nuclear receptor ligand-binding domain
57716 - Glucocorticoid receptor-like (DNA-binding domain)

Protein Data Bank (PDB) 3-D Structure
MuPIT help
1P8D - X-ray MuPIT 1PQ6 - X-ray 1PQ9 - X-ray 1PQC - X-ray 1UPV - X-ray 1UPW - X-ray 3KFC - X-ray 3L0E - X-ray MuPIT 4DK7 - X-ray MuPIT 4DK8 - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on P55055
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000978 RNA polymerase II core promoter proximal region sequence-specific DNA binding
GO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding
GO:0001077 transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding
GO:0003677 DNA binding
GO:0003700 transcription factor activity, sequence-specific DNA binding
GO:0003707 steroid hormone receptor activity
GO:0004879 RNA polymerase II transcription factor activity, ligand-activated sequence-specific DNA binding
GO:0005515 protein binding
GO:0008270 zinc ion binding
GO:0034191 apolipoprotein A-I receptor binding
GO:0043565 sequence-specific DNA binding
GO:0046872 metal ion binding
GO:0046965 retinoid X receptor binding
GO:0051117 ATPase binding

Biological Process:
GO:0000122 negative regulation of transcription from RNA polymerase II promoter
GO:0006351 transcription, DNA-templated
GO:0006355 regulation of transcription, DNA-templated
GO:0006357 regulation of transcription from RNA polymerase II promoter
GO:0006367 transcription initiation from RNA polymerase II promoter
GO:0010628 positive regulation of gene expression
GO:0010629 negative regulation of gene expression
GO:0010745 negative regulation of macrophage derived foam cell differentiation
GO:0010867 positive regulation of triglyceride biosynthetic process
GO:0010875 positive regulation of cholesterol efflux
GO:0010884 positive regulation of lipid storage
GO:0010887 negative regulation of cholesterol storage
GO:0032270 positive regulation of cellular protein metabolic process
GO:0032369 negative regulation of lipid transport
GO:0032376 positive regulation of cholesterol transport
GO:0042632 cholesterol homeostasis
GO:0043401 steroid hormone mediated signaling pathway
GO:0044255 cellular lipid metabolic process
GO:0045723 positive regulation of fatty acid biosynthetic process
GO:0045861 negative regulation of proteolysis
GO:0045892 negative regulation of transcription, DNA-templated
GO:0045893 positive regulation of transcription, DNA-templated
GO:0045944 positive regulation of transcription from RNA polymerase II promoter
GO:0048384 retinoic acid receptor signaling pathway
GO:0048550 negative regulation of pinocytosis
GO:0051006 positive regulation of lipoprotein lipase activity
GO:0055088 lipid homeostasis
GO:0060336 negative regulation of interferon-gamma-mediated signaling pathway
GO:0090108 positive regulation of high-density lipoprotein particle assembly
GO:0090187 positive regulation of pancreatic juice secretion
GO:0090340 positive regulation of secretion of lysosomal enzymes

Cellular Component:
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005737 cytoplasm


-  Descriptions from all associated GenBank mRNAs
  AK091535 - Homo sapiens cDNA FLJ34216 fis, clone FCBBF3022005, highly similar to OXYSTEROLS RECEPTOR LXR-BETA.
AX747042 - Sequence 567 from Patent EP1308459.
HZ466391 - JP 2015532642-A/15: MicroRNAs that Suppress Human Melanoma.
HZ466392 - JP 2015532642-A/16: MicroRNAs that Suppress Human Melanoma.
LP722516 - Sequence 29 from Patent EP2882496.
LP722518 - Sequence 31 from Patent EP2882496.
LF207653 - JP 2014500723-A/15156: Polycomb-Associated Non-Coding RNAs.
AK297978 - Homo sapiens cDNA FLJ57542 complete cds, highly similar to Oxysterols receptor LXR-beta.
BC047750 - Homo sapiens nuclear receptor subfamily 1, group H, member 2, mRNA (cDNA clone MGC:54144 IMAGE:6469687), complete cds.
CR749648 - Homo sapiens mRNA; cDNA DKFZp686D1580 (from clone DKFZp686D1580).
U07132 - Human steroid hormone receptor Ner-I mRNA, complete cds.
BC074500 - Homo sapiens nuclear receptor subfamily 1, group H, member 2, mRNA (cDNA clone MGC:64976 IMAGE:5211737), complete cds.
AK290855 - Homo sapiens cDNA FLJ77417 complete cds, highly similar to Human steroid hormone receptor Ner-I mRNA.
E11456 - cDNA encoding a steroid hormone receptor-like protein,ECDN protein.
E11457 - cDNA encoding small ECDN protein.
BC033500 - Homo sapiens nuclear receptor subfamily 1, group H, member 2, mRNA (cDNA clone MGC:35318 IMAGE:5178510), complete cds.
JD077383 - Sequence 58407 from Patent EP1572962.
JD485003 - Sequence 466027 from Patent EP1572962.
JD217835 - Sequence 198859 from Patent EP1572962.
BC007790 - Homo sapiens nuclear receptor subfamily 1, group H, member 2, mRNA (cDNA clone MGC:14108 IMAGE:3636961), complete cds.
LF367735 - JP 2014500723-A/175238: Polycomb-Associated Non-Coding RNAs.
JD273682 - Sequence 254706 from Patent EP1572962.
JD175309 - Sequence 156333 from Patent EP1572962.
JD271707 - Sequence 252731 from Patent EP1572962.
DQ890654 - Synthetic construct clone IMAGE:100003284; FLH164812.01X; RZPDo839C03158D nuclear receptor subfamily 1, group H, member 2 (NR1H2) gene, encodes complete protein.
AB463941 - Synthetic construct DNA, clone: pF1KB8155, Homo sapiens NR1H2 gene for nuclear receptor subfamily 1, group H, member 2, without stop codon, in Flexi system.
CU675803 - Synthetic construct Homo sapiens gateway clone IMAGE:100019509 5' read NR1H2 mRNA.
KJ897727 - Synthetic construct Homo sapiens clone ccsbBroadEn_07121 NR1H2 gene, encodes complete protein.
CR456706 - Homo sapiens full open reading frame cDNA clone RZPDo834F053D for gene NR1H2, nuclear receptor subfamily 1, group H, member 2; complete cds, incl. stopcodon.
AB307697 - Homo sapiens NR1H2 mRNA for liver X receptor beta, complete cds.
HQ692835 - Homo sapiens liver X nuclear receptor beta (NR1H2) mRNA, complete cds.
U14534 - Human orphan receptor mRNA, partial cds.
JD139275 - Sequence 120299 from Patent EP1572962.
JD164073 - Sequence 145097 from Patent EP1572962.
LF367731 - JP 2014500723-A/175234: Polycomb-Associated Non-Coding RNAs.
LF367730 - JP 2014500723-A/175233: Polycomb-Associated Non-Coding RNAs.
MA622456 - JP 2018140982-A/15: MicroRNAs that Suppress Human Melanoma.
MA622457 - JP 2018140982-A/16: MicroRNAs that Suppress Human Melanoma.
MA603312 - JP 2018138019-A/175238: Polycomb-Associated Non-Coding RNAs.
MA603308 - JP 2018138019-A/175234: Polycomb-Associated Non-Coding RNAs.
MA603307 - JP 2018138019-A/175233: Polycomb-Associated Non-Coding RNAs.
MA443230 - JP 2018138019-A/15156: Polycomb-Associated Non-Coding RNAs.
MP557080 - Sequence 29 from Patent EP3626309.
MP557082 - Sequence 31 from Patent EP3626309.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein P55055 (Reactome details) participates in the following event(s):

R-HSA-376419 Formation of NR-MED1 Coactivator Complex
R-HSA-383280 Nuclear Receptor transcription pathway
R-HSA-212436 Generic Transcription Pathway
R-HSA-73857 RNA Polymerase II Transcription
R-HSA-74160 Gene expression (Transcription)

-  Other Names for This Gene
  Alternate Gene Symbols: A8K490, B4DNM6, E7EWA6, ENST00000253727.1, ENST00000253727.2, ENST00000253727.3, ENST00000253727.4, ENST00000253727.5, ENST00000253727.6, ENST00000253727.7, ENST00000253727.8, ENST00000253727.9, LXRB, NER, NM_007121, NR1H2_HUMAN, P55055, Q12970, Q5I0Y1, uc317fmc.1, uc317fmc.2, UNR
UCSC ID: ENST00000253727.10_6
RefSeq Accession: NM_007121.7
Protein: P55055 (aka NR1H2_HUMAN or NRH2_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.