Gene Gene information from NCBI Gene database.
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
miRNA miRNA information provided by mirtarbase database.
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
Transcription factors Transcription factors information provided by TRRUST V2 database.
4
Transcription factor Regulation Reference
ATF6 Activation 18450959
CLOCK Activation 20674862
EP300 Activation 18842595
SREBF1 Activation 15123650
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
604630 7961 ENSG00000131910
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Sequence length 257
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Bile secretion   Nuclear Receptor transcription pathway
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
17
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
APC-mutation negative familial colorectal cancer Likely pathogenic; Pathogenic rs1570714352, rs779783209 RCV000859984
RCV000859986
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Inherited obesity Likely pathogenic rs1307335604 RCV003131082
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Obesity Likely pathogenic; Pathogenic rs1570714352, rs779783209 RCV002468047
RCV002249487
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Obesity, mild, early-onset Pathogenic rs74315349 RCV000005759
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
CARCINOMA, HEPATOCELLULAR CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
COGNITION DISORDERS CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
COMPLICATIONS OF DIABETES MELLITUS Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
DELIRIUM, DEMENTIA, AMNESTIC, COGNITIVE DISORDERS Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acute leukemia Leukemia BEFREE 14762685, 28408843
★☆☆☆☆
Found in Text Mining only
Acute lymphocytic leukemia Lymphocytic Leukemia BEFREE 12438221, 14762685
★☆☆☆☆
Found in Text Mining only
Acute Promyelocytic Leukemia Promyelocytic Leukemia BEFREE 30764849
★☆☆☆☆
Found in Text Mining only
Adenomatous Polyposis Coli Multiple polyposis syndrome BEFREE 26609171
★☆☆☆☆
Found in Text Mining only
Adult Diffuse Large B-Cell Lymphoma B-cell Lymphoma BEFREE 14691303
★☆☆☆☆
Found in Text Mining only
Arteriosclerosis Arteriosclerosis BEFREE 28743735
★☆☆☆☆
Found in Text Mining only
Arthritis Arthritis BEFREE 28539269
★☆☆☆☆
Found in Text Mining only
Arthritis Psoriatic Psoriatic arthritis Pubtator 16622521 Associate
★☆☆☆☆
Found in Text Mining only
Asthma Asthma BEFREE 18441283, 22371396
★☆☆☆☆
Found in Text Mining only
Astrocytoma Astrocytoma BEFREE 14729615
★☆☆☆☆
Found in Text Mining only