InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: TNFRSF11A

Summary

InnateDB Protein

IDBP-4283.4

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

TNFRSF11A

Protein Name

tumor necrosis factor receptor superfamily, member 11a, NFKB activator

Synonyms

CD265; FEO; LOH18CR1; ODFR; OFE; OPTB7; OSTS; PDB2; RANK; TRANCER;

Species

Homo sapiens

Ensembl Protein

ENSP00000269485

InnateDB Gene

IDBG-4279 (TNFRSF11A)

Protein Structure

UniProt Annotation

Function

Receptor for TNFSF11/RANKL/TRANCE/OPGL; essential for RANKL-mediated osteoclastogenesis. Involved in the regulation of interactions between T-cells and dendritic cells. {ECO:0000269PubMed:9878548}.

Subcellular Localization

Isoform 1: Cell membrane {ECO:0000269PubMed:23664977}; Single-pass type I membrane protein {ECO:0000269PubMed:23664977}.Isoform RANK-e5a: Cell membrane {ECO:0000269PubMed:23664977}; Single-pass type I membrane protein {ECO:0000269PubMed:23664977}.

Disease Associations

Familial expansile osteolysis (FEO) [MIM:174810]: Rare autosomal dominant bone disorder characterized by focal areas of increased bone remodeling. The osteolytic lesions develop usually in the long bones during early adulthood. FEO is often associated with early-onset deafness and loss of dentition. {ECO:0000269PubMed:10615125}. Note=The disease is caused by mutations affecting the gene represented in this entry.Paget disease of bone 2 (PDB2) [MIM:602080]: Bone- remodeling disorder with clinical similarities to FEO. Unlike FEO, however, affected individuals have involvement of the axial skeleton with lesions in the spine, pelvis and skull. {ECO:0000269PubMed:10615125}. Note=The disease is caused by mutations affecting the gene represented in this entry.Osteopetrosis, autosomal recessive 7 (OPTB7) [MIM:612301]: A rare genetic disease characterized by abnormally dense bone, due to defective resorption of immature bone. Osteopetrosis occurs in two forms: a severe autosomal recessive form occurring in utero, infancy, or childhood, and a benign autosomal dominant form occurring in adolescence or adulthood. Recessive osteopetrosis commonly manifests in early infancy with macrocephaly, feeding difficulties, evolving blindness and deafness, bone marrow failure, severe anemia, and hepatosplenomegaly. Deafness and blindness are generally thought to represent effects of pressure on nerves. OPTB7 is characterized by paucity of osteoclasts, suggesting a molecular defect in osteoclast development. OPTB7 is associated with hypogammaglobulinemia. {ECO:0000269PubMed:18606301}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Ubiquitous expression with high levels in skeletal muscle, thymus, liver, colon, small intestine and adrenal gland.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 17 experimentally validated interaction(s) in this database.
They are also associated with 12 interaction(s) predicted by orthology.

Experimentally validated
Total	17 [view]
Protein-Protein	17 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	12 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0004872	receptor activity
GO:0004888	transmembrane signaling receptor activity
GO:0005031	tumor necrosis factor-activated receptor activity
GO:0005515	protein binding
GO:0019955	cytokine binding
GO:0046872	metal ion binding

Biological Process

GO:0002250	adaptive immune response
GO:0002548	monocyte chemotaxis
GO:0007165	signal transduction
GO:0007267	cell-cell signaling
GO:0008284	positive regulation of cell proliferation
GO:0030316	osteoclast differentiation
GO:0032496	response to lipopolysaccharide
GO:0033209	tumor necrosis factor-mediated signaling pathway
GO:0034097	response to cytokine
GO:0034612	response to tumor necrosis factor
GO:0043123	positive regulation of I-kappaB kinase/NF-kappaB signaling
GO:0043507	positive regulation of JUN kinase activity
GO:0051091	positive regulation of sequence-specific DNA binding transcription factor activity
GO:0051092	positive regulation of NF-kappaB transcription factor activity
GO:0060086	circadian temperature homeostasis
GO:0070555	response to interleukin-1
GO:0071812	positive regulation of fever generation by positive regulation of prostaglandin secretion
GO:0071847	TNFSF11-mediated signaling pathway
GO:0071848	positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling