Human Gene NR0B2 (ENST00000254227.4_7) from GENCODE V47lift37
  Description: nuclear receptor subfamily 0 group B member 2 (from RefSeq NM_021969.3)
Gencode Transcript: ENST00000254227.4_7
Gencode Gene: ENSG00000131910.5_9
Transcript (Including UTRs)
   Position: hg19 chr1:27,237,980-27,240,466 Size: 2,487 Total Exon Count: 2 Strand: -
Coding Region
   Position: hg19 chr1:27,238,336-27,240,431 Size: 2,096 Coding Exon Count: 2 

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 (chr1:27,237,980-27,240,466)mRNA (may differ from genome)Protein (257 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
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HGNCMalacardsMGIOMIMPubMedReactome
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: NR0B2_HUMAN
DESCRIPTION: RecName: Full=Nuclear receptor subfamily 0 group B member 2; AltName: Full=Orphan nuclear receptor SHP; AltName: Full=Small heterodimer partner;
FUNCTION: Acts as a transcriptional regulator. Acts as a negative regulator of receptor-dependent signaling pathways. Specifically inhibits transactivation of the nuclear receptor with whom it interacts. Inhibits transcriptional activity of NEUROD1 on E-box- containing promoter by interfering with the coactivation function of the p300/CBP-mediated trancription complex for NEUROD1.
SUBUNIT: Interacts with RARA, RXRA, THRB, NR5A1, NR5A2, NR1I3, PPARA, PPARG and EID1. May also interact with HNF4A (By similarity). Heterodimer; efficient DNA binding requires dimerization with another bHLH protein. Interacts (via N-terminus) with NEUROD1 (via N-terminus an C-terminus). Interacts with ID2.
INTERACTION: Q96EB6:SIRT1; NbExp=6; IntAct=EBI-3910729, EBI-1802965;
SUBCELLULAR LOCATION: Nucleus. Cytoplasm. Note=Colocalizes with NEUROD1 in the nucleus.
TISSUE SPECIFICITY: Liver. Low levels of expression were detected in heart and pancreas.
DISEASE: Defects in NR0B2 may be associated with obesity (OBESITY) [MIM:601665]. It is a condition characterized by an increase of body weight beyond the limitation of skeletal and physical requirements, as the result of excessive accumulation of body fat.
SIMILARITY: Belongs to the nuclear hormone receptor family. NR0 subfamily.

-  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: NR0B2
Diseases sorted by gene-association score: obesity* (533), obesity, nr0b2-related* (500), hemopneumothorax (18), fibrolamellar carcinoma (12), hepatopulmonary syndrome (8)
* = Manually curated disease association

-  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: 40.94 RPKM in Liver
Total median expression: 105.44 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 -4.5035-0.129 Picture PostScript Text
3' UTR -121.50356-0.341 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
IPR008946 - Nucl_hormone_rcpt_ligand-bd
IPR000536 - Nucl_hrmn_rcpt_lig-bd_core
IPR001723 - Str_hrmn_rcpt

Pfam Domains:
PF00104 - Ligand-binding domain of nuclear hormone receptor

SCOP Domains:
48508 - Nuclear receptor ligand-binding domain

Protein Data Bank (PDB) 3-D Structure
MuPIT help
1YUC - X-ray MuPIT 2Q3Y - X-ray 2Z4J - X-ray MuPIT 4DOR - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on Q15466
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:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding
GO:0003677 DNA binding
GO:0003707 steroid hormone receptor activity
GO:0003714 transcription corepressor activity
GO:0005515 protein binding
GO:0008134 transcription factor binding
GO:0019904 protein domain specific binding
GO:0042803 protein homodimerization activity
GO:0042974 retinoic acid receptor binding
GO:0042975 peroxisome proliferator activated receptor binding
GO:0044877 macromolecular complex binding
GO:0046965 retinoid X receptor binding
GO:0046966 thyroid hormone receptor 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:0006367 transcription initiation from RNA polymerase II promoter
GO:0007219 Notch signaling pathway
GO:0008203 cholesterol metabolic process
GO:0009749 response to glucose
GO:0010628 positive regulation of gene expression
GO:0010629 negative regulation of gene expression
GO:0031100 animal organ regeneration
GO:0032024 positive regulation of insulin secretion
GO:0043401 steroid hormone mediated signaling pathway
GO:0043433 negative regulation of sequence-specific DNA binding transcription factor activity
GO:0045892 negative regulation of transcription, DNA-templated

Cellular Component:
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005737 cytoplasm
GO:0032991 macromolecular complex


-  Descriptions from all associated GenBank mRNAs
  BC030207 - Homo sapiens nuclear receptor subfamily 0, group B, member 2, mRNA (cDNA clone MGC:34176 IMAGE:5222402), complete cds.
JD265792 - Sequence 246816 from Patent EP1572962.
JD073556 - Sequence 54580 from Patent EP1572962.
JD137337 - Sequence 118361 from Patent EP1572962.
JD272414 - Sequence 253438 from Patent EP1572962.
JD445225 - Sequence 426249 from Patent EP1572962.
JD275301 - Sequence 256325 from Patent EP1572962.
JD175697 - Sequence 156721 from Patent EP1572962.
JD103782 - Sequence 84806 from Patent EP1572962.
JD383408 - Sequence 364432 from Patent EP1572962.
JD537506 - Sequence 518530 from Patent EP1572962.
JD271509 - Sequence 252533 from Patent EP1572962.
HQ692833 - Homo sapiens nuclear receptor SHP (NR0B2) mRNA, complete cds.
KJ892533 - Synthetic construct Homo sapiens clone ccsbBroadEn_01927 NR0B2 gene, encodes complete protein.
KR710663 - Synthetic construct Homo sapiens clone CCSBHm_00015490 NR0B2 (NR0B2) mRNA, encodes complete protein.
KR710664 - Synthetic construct Homo sapiens clone CCSBHm_00015495 NR0B2 (NR0B2) mRNA, encodes complete protein.
KR710665 - Synthetic construct Homo sapiens clone CCSBHm_00015496 NR0B2 (NR0B2) mRNA, encodes complete protein.
CU688840 - Synthetic construct Homo sapiens gateway clone IMAGE:100016905 5' read NR0B2 mRNA.
AK310048 - Homo sapiens cDNA, FLJ17090.

-  Biochemical and Signaling Pathways
  BioCarta from NCI Cancer Genome Anatomy Project
h_pparaPathway - Mechanism of Gene Regulation by Peroxisome Proliferators via PPARa(alpha)
h_fxrPathway - FXR and LXR Regulation of Cholesterol Metabolism
h_nuclearRsPathway - Nuclear Receptors in Lipid Metabolism and Toxicity

Reactome (by CSHL, EBI, and GO)

Protein Q15466 (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: ENST00000254227.1, ENST00000254227.2, ENST00000254227.3, F1D8P5, NM_021969, NR0B2_HUMAN, Q15466, Q5QP36, SHP, uc317fno.1, uc317fno.2
UCSC ID: ENST00000254227.4_7
RefSeq Accession: NM_021969.3
Protein: Q15466 (aka NR0B2_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.