Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	8431
Gene name	Nuclear receptor subfamily 0 group B member 2
Gene symbol	NR0B2
Synonyms (NCBI Gene)	SHPSHP1
Chromosome	1
Chromosome location	1p36.11
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 factor

Show/Hide all (32)

miRTarBase ID	miRNA	Experiments	Reference
MIRT006718	hsa-miR-141-3p	Luciferase reporter assay	22314666
MIRT006718	hsa-miR-141-3p	Luciferase reporter assay	22314666
MIRT028990	hsa-miR-26b-5p	Microarray	19088304
MIRT030414	hsa-miR-24-3p	Microarray	19748357
MIRT1191981	hsa-miR-1207-3p	CLIP-seq
MIRT1191982	hsa-miR-141	CLIP-seq
MIRT1191983	hsa-miR-1915	CLIP-seq
MIRT1191984	hsa-miR-200a	CLIP-seq
MIRT1191985	hsa-miR-4514	CLIP-seq
MIRT1191986	hsa-miR-4645-5p	CLIP-seq
MIRT1191987	hsa-miR-4673	CLIP-seq
MIRT1191988	hsa-miR-4692	CLIP-seq
MIRT1191989	hsa-miR-4726-3p	CLIP-seq
MIRT1191981	hsa-miR-1207-3p	CLIP-seq
MIRT1191982	hsa-miR-141	CLIP-seq
MIRT1191983	hsa-miR-1915	CLIP-seq
MIRT1191984	hsa-miR-200a	CLIP-seq
MIRT1191985	hsa-miR-4514	CLIP-seq
MIRT1191986	hsa-miR-4645-5p	CLIP-seq
MIRT1191987	hsa-miR-4673	CLIP-seq
MIRT1191988	hsa-miR-4692	CLIP-seq
MIRT1191989	hsa-miR-4726-3p	CLIP-seq
MIRT2284513	hsa-miR-342-5p	CLIP-seq
MIRT2284514	hsa-miR-4435	CLIP-seq
MIRT2284515	hsa-miR-4455	CLIP-seq
MIRT2284516	hsa-miR-4474-3p	CLIP-seq
MIRT2284517	hsa-miR-4651	CLIP-seq
MIRT2284518	hsa-miR-4664-5p	CLIP-seq
MIRT2284519	hsa-miR-4709-3p	CLIP-seq
MIRT2284520	hsa-miR-4765	CLIP-seq
MIRT2284521	hsa-miR-608	CLIP-seq
MIRT2284522	hsa-miR-644	CLIP-seq

Show/Hide all (4)

Transcription factor	Regulation	Reference
ATF6	Activation	18450959
CLOCK	Activation	20674862
EP300	Activation	18842595
SREBF1	Activation	15123650

Show/Hide all (45)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IBA
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IEA
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	TAS	11030331
GO:0000785	Component	Chromatin	IDA	27471003
GO:0000785	Component	Chromatin	ISA
GO:0003714	Function	Transcription corepressor activity	IBA
GO:0003714	Function	Transcription corepressor activity	IDA	14752053, 22504882
GO:0003714	Function	Transcription corepressor activity	TAS	11030331
GO:0005515	Function	Protein binding	IPI	14752053, 15317749, 16709599, 17895379, 20375098, 22504882, 22575647, 28128295, 32296183, 32814053
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	14752053, 16709599, 28797635
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	IEA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IDA	14752053
GO:0005737	Component	Cytoplasm	IEA
GO:0007219	Process	Notch signaling pathway	IEA
GO:0007623	Process	Circadian rhythm	IDA	28797635
GO:0008203	Process	Cholesterol metabolic process	TAS	11030331
GO:0009749	Process	Response to glucose	IEA
GO:0010628	Process	Positive regulation of gene expression	IMP	19085950
GO:0010629	Process	Negative regulation of gene expression	IMP	19085950
GO:0016922	Function	Nuclear receptor binding	IBA
GO:0019904	Function	Protein domain specific binding	IPI	17686645
GO:0031100	Process	Animal organ regeneration	IEA
GO:0032024	Process	Positive regulation of insulin secretion	IEA
GO:0032922	Process	Circadian regulation of gene expression	IBA
GO:0032922	Process	Circadian regulation of gene expression	IEA
GO:0032922	Process	Circadian regulation of gene expression	ISS
GO:0032991	Component	Protein-containing complex	IEA
GO:0042803	Function	Protein homodimerization activity	IPI	16709599
GO:0042974	Function	Nuclear retinoic acid receptor binding	IEA
GO:0042975	Function	Peroxisome proliferator activated receptor binding	IEA
GO:0043433	Process	Negative regulation of DNA-binding transcription factor activity	IDA	14752053
GO:0044877	Function	Protein-containing complex binding	IEA
GO:0045471	Process	Response to ethanol	IEA
GO:0045892	Process	Negative regulation of DNA-templated transcription	IEA
GO:0045892	Process	Negative regulation of DNA-templated transcription	ISS
GO:0045893	Process	Positive regulation of DNA-templated transcription	IDA	27471003
GO:0046965	Function	Nuclear retinoid X receptor binding	IEA
GO:0046966	Function	Nuclear thyroid hormone receptor binding	IEA
GO:0048511	Process	Rhythmic process	IEA
GO:0140416	Function	Transcription regulator inhibitor activity	IDA	27471003

MIM	HGNC	e!Ensembl
604630	7961	ENSG00000131910

Q15466

Protein name

Nuclear receptor subfamily 0 group B member 2 (Orphan nuclear receptor SHP) (Small heterodimer partner)

Protein function

Transcriptional regulator that acts as a negative regulator of receptor-dependent signaling pathways (PubMed:22504882). Specifically inhibits transactivation of the nuclear receptor with which it interacts (PubMed:22504882). Inhibits transcripti

PDB

1YUC , 2Q3Y , 2Z4J , 4DOR , 4ONI , 5UFS , 6W9M , 7YXC , 7YXD , 7YXN , 7YXO , 7YXP , 7YXR

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00104	Hormone_recep	50 → 237	Ligand-binding domain of nuclear hormone receptor	Domain

Tissue specificity

TISSUE SPECIFICITY: Liver. Low levels of expression were detected in heart and pancreas. {ECO:0000269|PubMed:8650544}.

Sequence

MSTSQPGACPCQGAASRPAILYALLSSSLKAVPRPRSRCLCRQHRPVQLCAPHRTCREAL
DVLAKTVAFLRNLPSFWQLPPQDQRRLLQGCWGPLFLLGLAQDAVTFEVAEAPVPSILKK
ILLEEPSSSGGSGQLPDRPQPSLAAVQWLQCCLESFWSLELSPKEYACLKGTILFNPDVP
GLQAASHIGHLQQEAHWVLCEVLEPWCPAAQGRLTRVLLTASTLKSIPTSLLGDLFFRPI
IGDVDIAGLLGDMLLLR

Sequence length

257

Interactions

View interactions

	KEGG		Reactome
	Bile secretion		Nuclear Receptor transcription pathway

Show/Hide Causal Diseases (4)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
APC-mutation negative familial colorectal cancer	Likely pathogenic; Pathogenic	rs1570714352, rs779783209	RCV000859984 RCV000859986
Inherited obesity	Likely pathogenic	rs1307335604	RCV003131082
Obesity	Likely pathogenic; Pathogenic	rs1570714352, rs779783209	RCV002468047 RCV002249487
Obesity, mild, early-onset	Pathogenic	rs74315349	RCV000005759

Show/Hide Unknown Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
NR0B2-related disorder	Benign; Likely benign; Uncertain significance; Conflicting classifications of pathogenicity	rs143133224, rs777140276, rs370821222, rs201991593, rs765321141, rs199976415, rs375223621, rs778073494, rs1477959726, rs370959977, rs750666067, rs202150278, rs74315349, rs367827644, rs759817886 View all (33 more)	RCV003923325 RCV003892880 RCV003933396 RCV003977518 RCV003410248 RCV004747276 RCV003936747 RCV003946501 RCV003412028 RCV003416802 RCV003417070 RCV003427860 RCV003420894 RCV003414523 RCV003420689 RCV003399992 RCV003418884 RCV003410846 RCV003412211 RCV003397736 RCV003408432 RCV003427911 RCV003418812 RCV003393149 RCV003420933 RCV003402995 RCV003939045 RCV003966485 RCV004747316 RCV004747344 RCV003939202 RCV003981113 RCV003909425 RCV003893612 RCV003894404 RCV003906934 RCV003967386 RCV003901866 RCV003912071 RCV003914055 RCV003971937 RCV003934377 RCV003976766 RCV003982053 RCV003966954 RCV004745370 RCV003419905 RCV003965583 RCV003942897

Show/Hide Text Mining Associations (79)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
46 XX Testicular Disorders of Sex Development	Associate	17686645
Adenomatous Polyposis Coli	Associate	24073274
Arthritis Psoriatic	Associate	16622521
Atherosclerosis	Inhibit	36456996
Autoimmune Diseases	Associate	36104364
Burkitt Lymphoma	Inhibit	9348315
Buschke Lowenstein Tumor	Associate	18543080
CADASIL	Associate	20516075
Carcinoma Hepatocellular	Associate	19793803, 22292081, 32390601, 36232407, 39664573
Carcinoma Hepatocellular	Inhibit	20853064, 22575647
Carcinoma Non Small Cell Lung	Associate	21964525
Carcinoma Small Cell	Associate	20233523
Colorectal Neoplasms	Associate	20196786, 27644671
Crohn Disease	Inhibit	21887309
Diabetes Mellitus	Associate	11136233, 20233523
Diabetes Mellitus	Stimulate	36514736
Diabetes Mellitus Type 2	Associate	11136233, 20233523
Drug Related Side Effects and Adverse Reactions	Associate	33123602
Epilepsy	Associate	28797635
Esophageal Squamous Cell Carcinoma	Associate	32374927
Fatty Liver	Associate	22292081, 26019035, 27661118, 28797635
Fatty Liver Alcoholic	Stimulate	26019035
Fibrolamellar hepatocellular carcinoma	Inhibit	22292081
Gastritis	Stimulate	39336801
Heart Failure	Associate	27814644
Hepatitis C	Associate	27661118
HIV Infections	Associate	26492336
Hypoadrenocorticism Familial	Associate	17686645
Hypoxia	Associate	33123602
Inflammation	Associate	27814644
Inflammatory Bowel Diseases	Associate	22467146
Insulin Resistance	Associate	17686645
Kidney Diseases	Associate	36514736
Leukemia	Associate	10340405, 14691303, 19322021, 25824741
Leukemia Lymphoma Adult T Cell	Associate	10229324
Leukemia Myelogenous Chronic BCR ABL Positive	Associate	19543515, 20067557, 23754495, 36869331
Leukemia Myeloid Acute	Associate	10340405, 19543515, 26466521
Leukemia Myeloid Chronic Atypical BCR ABL Negative	Associate	24131863
Leukemia Prolymphocytic T Cell	Associate	20974048
Leukemia Promyelocytic Acute	Associate	20067557
Lymphoma	Associate	14691303
Lymphoma B Cell	Associate	14691303
Lymphoma B Cell Marginal Zone	Associate	14691303
Lymphoma Follicular	Associate	14691303
Lymphoma Large Cell Anaplastic	Associate	16825495
Lymphoma T Cell	Inhibit	11021818
Metabolic Diseases	Associate	11136233
Mitochondrial Diseases	Inhibit	36273174
Multiple Myeloma	Associate	14976049, 28369102
Multiple Myeloma	Inhibit	25824741
Myelodysplastic Syndromes	Associate	15801956, 33736531
Myocardial Ischemia	Associate	18765230
Nasopharyngeal Carcinoma	Associate	25109634, 26215037
Neoplasm Metastasis	Associate	27735939
Neoplasms	Inhibit	18617527, 20853064, 22575647, 29562494, 33736531, 38384018
Neoplasms	Associate	24131863, 25824741, 26215037, 31044775, 33488300, 35488273, 39336801
Nerve Degeneration	Inhibit	34941945
Nervous System Diseases	Associate	34941945
Neutropenia Severe Congenital Autosomal Recessive 3	Stimulate	10378893
Non alcoholic Fatty Liver Disease	Associate	26019035
Obesity	Associate	11136233, 11705994, 17686645, 20054173, 20233523
Obesity Abdominal	Associate	20054173
Oral Submucous Fibrosis	Associate	38384018
Osteosarcoma	Associate	27735939, 35752008
Overweight	Associate	20233523
Pancreatic Neoplasms	Associate	31044775
Papillomavirus Infections	Associate	18543080
Plasmacytoma	Associate	30572945
Polycythemia primary familial and congenital	Associate	9359528
Polycythemia Vera	Associate	10390187
Precursor Cell Lymphoblastic Leukemia Lymphoma	Associate	21592569
Precursor T Cell Lymphoblastic Leukemia Lymphoma	Associate	15801956, 16192589
Squamous Cell Carcinoma of Head and Neck	Associate	38384018
Stomach Diseases	Associate	39336801
Stomach Neoplasms	Inhibit	39336801
Stomach Ulcer	Associate	39336801
Tertiary Lymphoid Structures	Associate	27644671
Thoracic Injuries	Associate	30572945
Uterine Cervical Neoplasms	Associate	18543080, 9287352

NR0B2 (nuclear receptor subfamily 0 group B member 2)