NR0B2
Nuclear receptor subfamily 0 group B member 2
Also known as: NR0B2_HUMAN, SHP
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q15466
- Gene
- NR0B2
- Ensembl
- ENSG00000131910
- Chromosome
- 1
- Canonical length
- 257 aa
- Protein class
- Disease related genes, Human disease related genes, Nuclear receptors, Predicted intracellular proteins, Transcription factors
- Subcellular location
- Nucleoplasm,Vesicles
- Quaternary structure
- Homodimer
OverviewNCBI Gene
The protein encoded by this gene is an unusual orphan receptor that contains a putative ligand-binding domain but lacks a conventional DNA-binding domain. The gene product is a member of the nuclear hormone receptor family, a group of transcription factors regulated by small hydrophobic hormones, a subset of which do not have known ligands and are referred to as orphan nuclear receptors. The protein has been shown to interact with retinoid and thyroid hormone receptors, inhibiting their ligand-dependent transcriptional activation. In addition, interaction with estrogen receptors has been demonstrated, leading to inhibition of function. Studies suggest that the protein represses nuclear hormone receptor-mediated transactivation via two separate steps: competition with coactivators and the direct effects of its transcriptional repressor function. [provided by RefSeq, Jul 2008]
Canonical amino-acid sequenceUniProt
257 residues, UniProt reviewed canonical sequence.
>Q15466|NR0B2
1 MSTSQPGACP CQGAASRPAI LYALLSSSLK AVPRPRSRCL CRQHRPVQLC APHRTCREAL
61 DVLAKTVAFL RNLPSFWQLP PQDQRRLLQG CWGPLFLLGL AQDAVTFEVA EAPVPSILKK
121 ILLEEPSSSG GSGQLPDRPQ PSLAAVQWLQ CCLESFWSLE LSPKEYACLK GTILFNPDVP
181 GLQAASHIGH LQQEAHWVLC EVLEPWCPAA QGRLTRVLLT ASTLKSIPTS LLGDLFFRPI
241 IGDVDIAGLL GDMLLLRLocalizationUniProt · AlphaFold · HPA
Whether an antibody against NR0B2 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Intracellular
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.36
- Highest tissue expression
- 140 nTPM
Expression across tissuesHPA
Tissue
- liver: 140 nTPM
- duodenum: 72 nTPM
- kidney: 30 nTPM
- pancreas: 29 nTPM
- stomach: 25 nTPM
- small intestine: 25 nTPM
Single-cell type
- hepatocytes: 164 nCPM
- cholangiocytes: 105 nCPM
- pancreatic duct cells: 86 nCPM
- parietal cells: 64 nCPM
- pancreatic acinar cells: 58 nCPM
- enterocytes: 50 nCPM
Immune cell
- basophil: 0 nTPM
- classical monocyte: 0 nTPM
- eosinophil: 0 nTPM
- gdT-cell: 0 nTPM
- intermediate monocyte: 0 nTPM
- MAIT T-cell: 0 nTPM
Brain region
- cerebellum: 0.4 nTPM
- cerebral cortex: 0.2 nTPM
- pons: 0.2 nTPM
- amygdala: 0.1 nTPM
- basal ganglia: 0.1 nTPM
- choroid plexus: 0.1 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about NR0B2.
Disease | AllUniProt
Conditions NR0B2 is implicated in, by any mechanism.
- Obesity (OBESITY) MIM:601665
Disease | GeneticClinVar
5 pathogenic / likely-pathogenic of 122 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- APC-mutation negative familial colorectal cancer
- Inherited obesity
- Obesity
- Obesity, mild, early-onset
- NR0B2-related disorder
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 1.64
- gnomAD pLI
- 0
- gnomAD missense Z
- 0.25
- DepMap mean gene effect
- -0.11
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- animal organ regeneration
- cholesterol metabolic process
- circadian regulation of gene expression
- circadian rhythm
- negative regulation of DNA-binding transcription factor activity
- negative regulation of DNA-templated transcription
- negative regulation of gene expression
- negative regulation of transcription by RNA polymerase II
- Notch signaling pathway
- positive regulation of DNA-templated transcription
- positive regulation of gene expression
- positive regulation of insulin secretion
- response to ethanol
- response to glucose
Molecular functions
- nuclear receptor binding
- nuclear retinoid X receptor binding
- nuclear thyroid hormone receptor binding
- peroxisome proliferator activated receptor binding
- protein domain specific binding
- protein homodimerization activity
- protein-containing complex binding
- transcription corepressor activity
- transcription regulator inhibitor activity
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of NR0B2 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads NR0B2 as an antibody target. Whether an autoantibody or antibody against NR0B2 could matter depends on whether native NR0B2 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
NR0B2 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label NR0B2 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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