Endometriosis Knowledgebase


A repository for genes associated with endometriosis

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Gene id 8431
Gene Summary        Protein Summary    Gene ontology    KEGG pathways    Diseases    PubMed references    

Gene Summary

Gene Symbol NR0B2   Gene   UCSC   Ensembl
Aliases SHP, SHP1
Gene name nuclear receptor subfamily 0 group B member 2
Alternate names nuclear receptor subfamily 0 group B member 2, nuclear receptor SHP, orphan nuclear receptor SHP, small heterodimer partner,
Gene location 1p36.11 (26914075: 26911483)     Exons: 3     NC_000001.11
Gene summary(Entrez) 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]
OMIM 604630

Protein Summary

Protein general information Q15466  

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

Length: 257  Mass: 28,058

Tissue specificity: Liver. Low levels of expression were detected in heart and pancreas. {ECO

Sequence MSTSQPGACPCQGAASRPAILYALLSSSLKAVPRPRSRCLCRQHRPVQLCAPHRTCREALDVLAKTVAFLRNLPS
FWQLPPQDQRRLLQGCWGPLFLLGLAQDAVTFEVAEAPVPSILKKILLEEPSSSGGSGQLPDRPQPSLAAVQWLQ
CCLESFWSLELSPKEYACLKGTILFNPDVPGLQAASHIGHLQQEAHWVLCEVLEPWCPAAQGRLTRVLLTASTLK
SIPTSLLGDLFFRPIIGDVDIAGLLGDMLLLR
Structural information
Interpro:  IPR000536 IPR001723

Pfam:  
PF00104

PDB:  
1YUC 2Q3Y 2Z4J 4DOR 4ONI
PDBsum:   1YUC 2Q3Y 2Z4J 4DOR 4ONI

DIP:  
46313
MINT:   8150838
STRING:   ENSP00000254227;
Other Databases GeneCards:  NR0B2;  Malacards:  NR0B2

Gene ontology


GO accessionTerm nameEvidence codeGo category
GO:0000122 negative regulation of tr
anscription from RNA poly
merase II promoter
IEA biological_process
GO:0003677 DNA binding
IEA molecular_function
GO:0003707 steroid hormone receptor
activity
IEA molecular_function
GO:0003714 transcription corepressor
activity
IDA molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005634 nucleus
IDA cellular_component
GO:0005634 nucleus
IDA cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005737 cytoplasm
IDA cellular_component
GO:0006367 transcription initiation
from RNA polymerase II pr
omoter
TAS biological_process
GO:0007219 Notch signaling pathway
IEA biological_process
GO:0008134 transcription factor bind
ing
IBA molecular_function
GO:0008203 cholesterol metabolic pro
cess
TAS biological_process
GO:0009749 response to glucose
IEA biological_process
GO:0010628 positive regulation of ge
ne expression
IMP biological_process
GO:0010629 negative regulation of ge
ne expression
IMP biological_process
GO:0019904 protein domain specific b
inding
IPI molecular_function
GO:0031100 animal organ regeneration
IEA biological_process
GO:0032024 positive regulation of in
sulin secretion
IEA biological_process
GO:0032403 protein complex binding
IEA molecular_function
GO:0042803 protein homodimerization
activity
IPI molecular_function
GO:0042975 peroxisome proliferator a
ctivated receptor binding
IEA molecular_function
GO:0043234 protein complex
IEA cellular_component
GO:0043401 steroid hormone mediated
signaling pathway
IEA biological_process
GO:0043433 negative regulation of se
quence-specific DNA bindi
ng transcription factor a
ctivity
IDA biological_process
GO:0046965 retinoid X receptor bindi
ng
IEA molecular_function
GO:0046966 thyroid hormone receptor
binding
IEA molecular_function
GO:0000122 negative regulation of tr
anscription from RNA poly
merase II promoter
IEA biological_process
GO:0000122 negative regulation of tr
anscription from RNA poly
merase II promoter
TAS biological_process
GO:0003677 DNA binding
IEA molecular_function
GO:0003707 steroid hormone receptor
activity
IEA molecular_function
GO:0003714 transcription corepressor
activity
TAS molecular_function
GO:0003714 transcription corepressor
activity
IDA molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005634 nucleus
IEA cellular_component
GO:0005634 nucleus
IEA cellular_component
GO:0005634 nucleus
IEA cellular_component
GO:0005634 nucleus
IDA cellular_component
GO:0005634 nucleus
IDA cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005737 cytoplasm
IEA cellular_component
GO:0005737 cytoplasm
IEA cellular_component
GO:0005737 cytoplasm
IDA cellular_component
GO:0006351 transcription, DNA-templa
ted
IEA biological_process
GO:0006355 regulation of transcripti
on, DNA-templated
IEA biological_process
GO:0006355 regulation of transcripti
on, DNA-templated
IEA biological_process
GO:0006367 transcription initiation
from RNA polymerase II pr
omoter
TAS biological_process
GO:0007219 Notch signaling pathway
IEA biological_process
GO:0008134 transcription factor bind
ing
IEA molecular_function
GO:0008134 transcription factor bind
ing
IBA molecular_function
GO:0008203 cholesterol metabolic pro
cess
TAS biological_process
GO:0009749 response to glucose
IEA biological_process
GO:0010628 positive regulation of ge
ne expression
IMP biological_process
GO:0010629 negative regulation of ge
ne expression
IMP biological_process
GO:0019904 protein domain specific b
inding
IPI molecular_function
GO:0031100 animal organ regeneration
IEA biological_process
GO:0032024 positive regulation of in
sulin secretion
IEA biological_process
GO:0032403 protein complex binding
IEA molecular_function
GO:0042803 protein homodimerization
activity
IPI molecular_function
GO:0042974 retinoic acid receptor bi
nding
IEA molecular_function
GO:0042975 peroxisome proliferator a
ctivated receptor binding
IEA molecular_function
GO:0043234 protein complex
IEA cellular_component
GO:0043401 steroid hormone mediated
signaling pathway
IEA biological_process
GO:0043433 negative regulation of se
quence-specific DNA bindi
ng transcription factor a
ctivity
IDA biological_process
GO:0045892 negative regulation of tr
anscription, DNA-template
d
IEA biological_process
GO:0046965 retinoid X receptor bindi
ng
IEA molecular_function
GO:0046966 thyroid hormone receptor
binding
IEA molecular_function
GO:0000122 negative regulation of tr
anscription from RNA poly
merase II promoter
TAS biological_process
GO:0003714 transcription corepressor
activity
TAS molecular_function
GO:0003714 transcription corepressor
activity
IDA molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005634 nucleus
IDA cellular_component
GO:0005634 nucleus
IDA cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005737 cytoplasm
IDA cellular_component
GO:0006367 transcription initiation
from RNA polymerase II pr
omoter
TAS biological_process
GO:0008134 transcription factor bind
ing
IBA molecular_function
GO:0008203 cholesterol metabolic pro
cess
TAS biological_process
GO:0010628 positive regulation of ge
ne expression
IMP biological_process
GO:0010629 negative regulation of ge
ne expression
IMP biological_process
GO:0019904 protein domain specific b
inding
IPI molecular_function
GO:0042803 protein homodimerization
activity
IPI molecular_function
GO:0043433 negative regulation of se
quence-specific DNA bindi
ng transcription factor a
ctivity
IDA biological_process

KEGG pathways

hsa04976  Bile secretion

Diseases

Associated diseases References
Diabetes PMID: 18781616
Endometriosis PMID: 21613300
Obesity PMID: 11136233
Endometriosis INFBASE21613300

PubMed references


PMID Condition Mutation Ethnicity Population details Infertility_type Associated_genes Abstract
21613300 Endometrio
sis

20 (10 women wi
th endometriosi
s, 10 control w
omen)
COX-2
CDX1
SHP
HIF-1
Show abstract