NR0B2 nuclear receptor subfamily 0 group B member 2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: NR0B2provided by HGNC
Official Full Name: nuclear receptor subfamily 0 group B member 2provided by HGNC
Primary source: HGNC:HGNC:7961
See related: Ensembl:ENSG00000131910 MIM:604630; AllianceGenome:HGNC:7961
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: SHP; SHP1
Summary: 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]
Expression: Biased expression in duodenum (RPKM 26.3), liver (RPKM 15.9) and 8 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 1p36.11

Exon count:: 2

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (26911489..26913975, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (26749548..26752039, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (27237980..27240466, complement)

Chromosome 1 - NC_000001.11 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?

SHP-1 alleviates atrial fibrosis in atrial fibrillation by modulating STAT3 activation.
Title: SHP-1 alleviates atrial fibrosis in atrial fibrillation by modulating STAT3 activation.
The effectiveness of small heterodimer partner and FGF 19 levels in prediction of perinatal morbidity in intrahepatic cholestasis of pregnancy.
Title: The effectiveness of small heterodimer partner and FGF 19 levels in prediction of perinatal morbidity in intrahepatic cholestasis of pregnancy.
The orphan nuclear receptor NR0B2 could be a novel susceptibility locus associated with microsatellite-stable, APC mutation-negative early-onset colorectal carcinomas with metabolic manifestation.
Title: The orphan nuclear receptor NR0B2 could be a novel susceptibility locus associated with microsatellite-stable, APC mutation-negative early-onset colorectal carcinomas with metabolic manifestation.
The long and the small collide: LncRNAs and small heterodimer partner (SHP) in liver disease.
Title: The long and the small collide: LncRNAs and small heterodimer partner (SHP) in liver disease.
Nuclear receptor SHP dampens transcription function and abrogates mitotic chromatin association of PXR and ERalpha via intermolecular interactions.
Title: Nuclear receptor SHP dampens transcription function and abrogates mitotic chromatin association of PXR and ERα via intermolecular interactions.
Loss of SHP expression is associated with nonalcoholic steatohepatitis.
Title: Hepatocyte nuclear receptor SHP suppresses inflammation and fibrosis in a mouse model of nonalcoholic steatohepatitis.
results suggest that NR0B2 is a tumor suppressor gene in ccRCC, and that the hypermethylation of promoter region is the main mechanism of its downregulation.
Title: [Suppression of NR0B2 gene in Clear Cell Renal Cell Carcinoma Is Associated with Hypermethylation of Its Promoter].
DDX3 regulates MTP gene expression and lipid homeostasis through interplay with HNF4 and SHP.
Title: RNA helicase DDX3 maintains lipid homeostasis through upregulation of the microsomal triglyceride transfer protein by interacting with HNF4 and SHP.
The miR-141 was significantly up-regulated in the samples of metastatic tumors compared to localized tumor samples. Tumor samples showed lower SHP mRNA expression levels than BPH samples.
Title: Aberrant expression of miR-141 and nuclear receptor small heterodimer partner in clinical samples of prostate cancer.
The impact of these variants on transactivation of the NR0B2 promoter by NRs known to be regulators of SHP1 expression was assessed in a cell-based reporter gene assay, showing that transactivation by hepatocyte nuclear factor 4alpha and liver receptor homolog-1 was significantly decreased in the presence of the genetic variant NR0B2:c.-594T&gt
Title: Functional assessment of genetic variants located in the promoter of SHP1 (NR0B2).

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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

Associated conditions

Description	Tests
Inherited obesity MedGen: C4054476 OMIM: 601665 GeneReviews: Not available	Compare labs

EBI GWAS Catalog

Description
Discovery and refinement of loci associated with lipid levels. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Replication interactions

Interaction	Pubs
Knockdown of nuclear receptor subfamily 0, group B, member 2 (NR0B2) by siRNA inhibits HIV-1 replication in HeLa-derived TZM-bl cells	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH79895 (e-PCR)
- UniSTS:84995

RH93759 (e-PCR)
- UniSTS:87058

D1S1423 (e-PCR)
- UniSTS:149619

D1S3511 (e-PCR)
- UniSTS:1682

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables nuclear retinoid X receptor binding	IEA Inferred from Electronic Annotation more info
enables nuclear thyroid hormone receptor binding	IEA Inferred from Electronic Annotation more info
enables peroxisome proliferator activated receptor binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein domain specific binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein homodimerization activity	IPI Inferred from Physical Interaction more info	PubMed
enables protein-containing complex binding	IEA Inferred from Electronic Annotation more info
enables transcription corepressor activity	IBA Inferred from Biological aspect of Ancestor more info
enables transcription corepressor activity	IDA Inferred from Direct Assay more info	PubMed
enables transcription corepressor activity	TAS Traceable Author Statement more info	PubMed
enables transcription factor binding	IBA Inferred from Biological aspect of Ancestor more info
enables transcription regulator inhibitor activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in Notch signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in animal organ regeneration	IEA Inferred from Electronic Annotation more info
involved_in bile acid and bile salt transport	IEA Inferred from Electronic Annotation more info
involved_in cholesterol metabolic process	TAS Traceable Author Statement more info	PubMed
involved_in circadian regulation of gene expression	ISS Inferred from Sequence or Structural Similarity more info
involved_in circadian rhythm	IBA Inferred from Biological aspect of Ancestor more info
involved_in circadian rhythm	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of DNA-binding transcription factor activity	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of DNA-binding transcription factor activity	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of DNA-templated transcription	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of gene expression	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within positive regulation of DNA-templated transcription	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of gene expression	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of insulin secretion	IEA Inferred from Electronic Annotation more info
involved_in response to ethanol	IEA Inferred from Electronic Annotation more info
involved_in response to glucose	IEA Inferred from Electronic Annotation more info
involved_in response to organic cyclic compound	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
part_of chromatin	IDA Inferred from Direct Assay more info	PubMed
part_of chromatin	ISA Inferred from Sequence Alignment more info
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in intracellular membrane-bounded organelle	IDA Inferred from Direct Assay more info
located_in nucleoplasm	IDA Inferred from Direct Assay 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: nuclear receptor subfamily 0 group B member 2

Names: nuclear receptor SHP; orphan nuclear receptor SHP; small heterodimer partner

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.

Genomic

NG_012143.1 RefSeqGene

Range

5102..7588

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_021969.3 → NP_068804.1 nuclear receptor subfamily 0 group B member 2

See identical proteins and their annotated locations for NP_068804.1

Status: REVIEWED

Source sequence(s)

AI457167, BC030207

Consensus CDS

CCDS291.1

UniProtKB/Swiss-Prot

F1D8P5, Q15466, Q5QP36

Related

ENSP00000254227.3, ENST00000254227.4

Conserved Domains (1) summary

cd07349
Location:32 → 254

NR_LBD_SHP; The ligand binding domain of DAX1 protein, a nuclear receptor lacking DNA binding domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000001.11 Reference GRCh38.p14 Primary Assembly

Range

26911489..26913975 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011542297.4 → XP_011540599.1 nuclear receptor subfamily 0 group B member 2 isoform X1

Conserved Domains (1) summary

cl11397
Location:32 → 178

NR_LBD; The ligand binding domain of nuclear receptors, a family of ligand-activated transcription regulators