InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: TNFSF11

Summary

InnateDB Protein

IDBP-294924.6

Last Modified

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

Gene Symbol

TNFSF11

Protein Name

tumor necrosis factor (ligand) superfamily, member 11

Synonyms

CD254; hRANKL2; ODF; OPGL; OPTB2; RANKL; sOdf; TRANCE;

Species

Homo sapiens

Ensembl Protein

ENSP00000384042

InnateDB Gene

IDBG-28393 (TNFSF11)

Protein Structure

UniProt Annotation

Function

Cytokine that binds to TNFRSF11B/OPG and to TNFRSF11A/RANK. Osteoclast differentiation and activation factor. Augments the ability of dendritic cells to stimulate naive T-cell proliferation. May be an important regulator of interactions between T-cells and dendritic cells and may play a role in the regulation of the T-cell-dependent immune response. May also play an important role in enhanced bone-resorption in humoral hypercalcemia of malignancy. {ECO:0000269PubMed:22664871}.

Subcellular Localization

Isoform 1: Cell membrane; Single-pass type II membrane protein.Isoform 3: Cell membrane; Single-pass type II membrane protein.Isoform 2: Cytoplasm {ECO:0000250}.Tumor necrosis factor ligand superfamily member 11, soluble form: Secreted {ECO:0000250}.

Disease Associations

Osteopetrosis, autosomal recessive 2 (OPTB2) [MIM:259710]: 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. OPTB2 is characterized by paucity of osteoclasts, suggesting a molecular defect in osteoclast development. {ECO:0000269PubMed:17632511}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Highest in the peripheral lymph nodes, weak in spleen, peripheral blood Leukocytes, bone marrow, heart, placenta, skeletal muscle, stomach and thyroid.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 38 experimentally validated interaction(s) in this database.
They are also associated with 4 interaction(s) predicted by orthology.

Experimentally validated
Total	38 [view]
Protein-Protein	36 [view]
Protein-DNA	1 [view]
Protein-RNA	0
DNA-DNA	1 [view]
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	4 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005125	cytokine activity
GO:0005164	tumor necrosis factor receptor binding
GO:0005515	protein binding
GO:0032813	tumor necrosis factor receptor superfamily binding

Biological Process

GO:0002548	monocyte chemotaxis
GO:0006955	immune response
GO:0019221	cytokine-mediated signaling pathway
GO:0030316	osteoclast differentiation
GO:0033209	tumor necrosis factor-mediated signaling pathway
GO:0034112	positive regulation of homotypic cell-cell adhesion
GO:0043406	positive regulation of MAP kinase activity
GO:0045087	innate immune response (InnateDB)
GO:0045672	positive regulation of osteoclast differentiation
GO:0045780	positive regulation of bone resorption
GO:0045944	positive regulation of transcription from RNA polymerase II promoter
GO:0050870	positive regulation of T cell activation
GO:0051091	positive regulation of sequence-specific DNA binding transcription factor activity
GO:0051092	positive regulation of NF-kappaB transcription factor activity
GO:0051466	positive regulation of corticotropin-releasing hormone secretion
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
GO:1902533	positive regulation of intracellular signal transduction