Endometriosis Knowledgebase

Search Result

Gene id

4982

Gene Summary Protein Summary Gene ontology KEGG pathways Diseases PubMed references

Gene Summary

Gene Symbol

TNFRSF11B Gene UCSC Ensembl

Aliases

OCIF, OPG, PDB5, TR1

Gene name

TNF receptor superfamily member 11b

Alternate names

tumor necrosis factor receptor superfamily member 11B, osteoclastogenesis inhibitory factor, osteoprotegerin, tumor necrosis factor receptor superfamily, member 11b,

Gene location

8q24.12 (118952143: 118923556) Exons: 5 NC_000008.11

Gene summary(Entrez)

The protein encoded by this gene is a member of the TNF-receptor superfamily. This protein is an osteoblast-secreted decoy receptor that functions as a negative regulator of bone resorption. This protein specifically binds to its ligand, osteoprotegerin ligand, both of which are key extracellular regulators of osteoclast development. Studies of the mouse counterpart also suggest that this protein and its ligand play a role in lymph-node organogenesis and vascular calcification. Alternatively spliced transcript variants of this gene have been reported, but their full length nature has not been determined. [provided by RefSeq, Jul 2008]

OMIM

602643

Protein Summary

Protein general information

O00300

Name: Tumor necrosis factor receptor superfamily member 11B (Osteoclastogenesis inhibitory factor) (Osteoprotegerin)

Length: 401 Mass: 46,026

Tissue specificity: Highly expressed in adult lung, heart, kidney, liver, spleen, thymus, prostate, ovary, small intestine, thyroid, lymph node, trachea, adrenal gland, testis, and bone marrow. Detected at very low levels in brain, placenta and skeletal m

Sequence

MNNLLCCALVFLDISIKWTTQETFPPKYLHYDEETSHQLLCDKCPPGTYLKQHCTAKWKTVCAPCPDHYYTDSWH
TSDECLYCSPVCKELQYVKQECNRTHNRVCECKEGRYLEIEFCLKHRSCPPGFGVVQAGTPERNTVCKRCPDGFF
SNETSSKAPCRKHTNCSVFGLLLTQKGNATHDNICSGNSESTQKCGIDVTLCEEAFFRFAVPTKFTPNWLSVLVD
NLPGTKVNAESVERIKRQHSSQEQTFQLLKLWKHQNKDQDIVKKIIQDIDLCENSVQRHIGHANLTFEQLRSLME
SLPGKKVGAEDIEKTIKACKPSDQILKLLSLWRIKNGDQDTLKGLMHALKHSKTYHFPKTVTQSLKKTIRFLHSF
TMYKLYQKLFLEMIGNQVQSVKISCL

Structural information

Protein Domains	Death (198-269) Death (270-365)
Interpro:	IPR011029 IPR000488 IPR001368 IPR022323 IPR017371 IPR011641
Prosite:	PS00652 PS50050
Pfam:	PF00531 PF00020
PDB:	3URF
PDBsum:	3URF
STRING:	ENSP00000297350;

Other Databases

GeneCards: TNFRSF11B; Malacards: TNFRSF11B

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0001501	skeletal system developme nt	TAS	biological_process
GO:0004872	receptor activity	TAS	molecular_function
GO:0005031	tumor necrosis factor-act ivated receptor activity	IBA	molecular_function
GO:0005125	cytokine activity	TAS	molecular_function
GO:0005576	extracellular region	TAS	cellular_component
GO:0005578	proteinaceous extracellul ar matrix	IEA	cellular_component
GO:0005615	extracellular space	IDA	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005887	integral component of pla sma membrane	IBA	cellular_component
GO:0006954	inflammatory response	IBA	biological_process
GO:0006955	immune response	IBA	biological_process
GO:0007165	signal transduction	TAS	biological_process
GO:0007584	response to nutrient	IEA	biological_process
GO:0030198	extracellular matrix orga nization	IEA	biological_process
GO:0032026	response to magnesium ion	IEA	biological_process
GO:0032496	response to lipopolysacch aride	IBA	biological_process
GO:0033209	tumor necrosis factor-med iated signaling pathway	TAS	biological_process
GO:0042127	regulation of cell prolif eration	IBA	biological_process
GO:0042489	negative regulation of od ontogenesis of dentin-con taining tooth	IEA	biological_process
GO:0042493	response to drug	IEA	biological_process
GO:0042981	regulation of apoptotic p rocess	IBA	biological_process
GO:0043410	positive regulation of MA PK cascade	IBA	biological_process
GO:0043627	response to estrogen	IEA	biological_process
GO:0045779	negative regulation of bo ne resorption	IEA	biological_process
GO:0046685	response to arsenic-conta ining substance	IEA	biological_process
GO:0097190	apoptotic signaling pathw ay	IBA	biological_process
GO:0001501	skeletal system developme nt	TAS	biological_process
GO:0004872	receptor activity	TAS	molecular_function
GO:0005031	tumor necrosis factor-act ivated receptor activity	IBA	molecular_function
GO:0005125	cytokine activity	TAS	molecular_function
GO:0005576	extracellular region	IEA	cellular_component
GO:0005576	extracellular region	IEA	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005578	proteinaceous extracellul ar matrix	IEA	cellular_component
GO:0005615	extracellular space	IEA	cellular_component
GO:0005615	extracellular space	IDA	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005887	integral component of pla sma membrane	IBA	cellular_component
GO:0006915	apoptotic process	IEA	biological_process
GO:0006954	inflammatory response	IBA	biological_process
GO:0006955	immune response	IBA	biological_process
GO:0007165	signal transduction	IEA	biological_process
GO:0007165	signal transduction	TAS	biological_process
GO:0007584	response to nutrient	IEA	biological_process
GO:0010035	response to inorganic sub stance	IEA	biological_process
GO:0030198	extracellular matrix orga nization	IEA	biological_process
GO:0032026	response to magnesium ion	IEA	biological_process
GO:0032496	response to lipopolysacch aride	IBA	biological_process
GO:0033209	tumor necrosis factor-med iated signaling pathway	TAS	biological_process
GO:0042127	regulation of cell prolif eration	IBA	biological_process
GO:0042489	negative regulation of od ontogenesis of dentin-con taining tooth	IEA	biological_process
GO:0042493	response to drug	IEA	biological_process
GO:0042981	regulation of apoptotic p rocess	IBA	biological_process
GO:0043410	positive regulation of MA PK cascade	IBA	biological_process
GO:0043627	response to estrogen	IEA	biological_process
GO:0045779	negative regulation of bo ne resorption	IEA	biological_process
GO:0046685	response to arsenic-conta ining substance	IEA	biological_process
GO:0097190	apoptotic signaling pathw ay	IBA	biological_process
GO:0001501	skeletal system developme nt	TAS	biological_process
GO:0004872	receptor activity	TAS	molecular_function
GO:0005031	tumor necrosis factor-act ivated receptor activity	IBA	molecular_function
GO:0005125	cytokine activity	TAS	molecular_function
GO:0005576	extracellular region	TAS	cellular_component
GO:0005615	extracellular space	IDA	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005887	integral component of pla sma membrane	IBA	cellular_component
GO:0006954	inflammatory response	IBA	biological_process
GO:0006955	immune response	IBA	biological_process
GO:0007165	signal transduction	TAS	biological_process
GO:0032496	response to lipopolysacch aride	IBA	biological_process
GO:0033209	tumor necrosis factor-med iated signaling pathway	TAS	biological_process
GO:0042127	regulation of cell prolif eration	IBA	biological_process
GO:0042981	regulation of apoptotic p rocess	IBA	biological_process
GO:0043410	positive regulation of MA PK cascade	IBA	biological_process
GO:0097190	apoptotic signaling pathw ay	IBA	biological_process

KEGG pathways

hsa04060 Cytokine-cytokine receptor interaction
hsa04380 Osteoclast differentiation

Diseases

Associated diseases	References
Endometriosis	PMID: 22392486
Female infertility	PMID: 18490014
Gaucher disease	PMID: 16512834
Endometriosis	INFBASE15242994
Osteoarthritis	PMID: 16453284
Osteoporosis	PMID: 12181640
Paget's disease	KEGG: H00437, OMIM: 602643
Periodontitis	PMID: 16512757
Polycystic ovary syndrome (PCOS)	PMID: 20974706
Rheumatoid arthritis	PMID: 17876645
Systemic lupus erythematosus	PMID: 18174230

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Associated_genes	Abstract
15242994	Endometrio sis			64	OPG TRAIL	Show abstract
22392486	Endometrio sis	TRAIL (c.49G>A, c.592A>G, c.615A>G, and c.662T>C; DR4 c.626G>C and c.1322A>G; DR5 c.95C>T, c.200C>T, and c.72T>G), OPG -(245T>G, c.9C>G, c.788A>C, and c.9938G>T)	Korean	352 (138 women with endometrio sis, 214 women without endomet riosis)	TRAIL OPG	Show abstract
16635455	Endometrio sis			132 (77 women w ere diagnosed w ith endometrios is, 55 women we re free of the disease and ser ved as control subjects)	PAPPA glycodelin osteoprotegerin CD163	Show abstract