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Aliases for TNFSF11 Gene

Aliases for TNFSF11 Gene

  • Tumor Necrosis Factor Superfamily Member 11 2 3 5
  • Tumor Necrosis Factor (Ligand) Superfamily, Member 11 2 3
  • Receptor Activator Of Nuclear Factor Kappa-B Ligand 3 4
  • TNF-Related Activation-Induced Cytokine 3 4
  • Osteoclast Differentiation Factor 3 4
  • Osteoprotegerin Ligand 3 4
  • TRANCE 3 4
  • RANKL 3 4
  • OPGL 3 4
  • ODF 3 4
  • Tumor Necrosis Factor (Ligand) Superfamily Member 11 3
  • Receptor Activator Of Nuclear Factor Kappa B Ligand 3
  • Tumor Necrosis Factor Ligand 6B 3
  • CD254 Antigen 4
  • HRANKL2 3
  • TNLG6B 3
  • CD254 3
  • OPTB2 3
  • SODF 3

External Ids for TNFSF11 Gene

Previous GeneCards Identifiers for TNFSF11 Gene

  • GC13P041146
  • GC13P037132
  • GC13P042073
  • GC13P040934
  • GC13P040943
  • GC13P042034
  • GC13P043136
  • GC13P023940

Summaries for TNFSF11 Gene

Entrez Gene Summary for TNFSF11 Gene

  • This gene encodes a member of the tumor necrosis factor (TNF) cytokine family which is a ligand for osteoprotegerin and functions as a key factor for osteoclast differentiation and activation. This protein was shown to be a dentritic cell survival factor and is involved in the regulation of T cell-dependent immune response. T cell activation was reported to induce expression of this gene and lead to an increase of osteoclastogenesis and bone loss. This protein was shown to activate antiapoptotic kinase AKT/PKB through a signaling complex involving SRC kinase and tumor necrosis factor receptor-associated factor (TRAF) 6, which indicated this protein may have a role in the regulation of cell apoptosis. Targeted disruption of the related gene in mice led to severe osteopetrosis and a lack of osteoclasts. The deficient mice exhibited defects in early differentiation of T and B lymphocytes, and failed to form lobulo-alveolar mammary structures during pregnancy. Two alternatively spliced transcript variants have been found. [provided by RefSeq, Jul 2008]

GeneCards Summary for TNFSF11 Gene

TNFSF11 (Tumor Necrosis Factor Superfamily Member 11) is a Protein Coding gene. Diseases associated with TNFSF11 include osteopetrosis, autosomal recessive 2 and autosomal recessive malignant osteopetrosis. Among its related pathways are IL6-mediated signaling events and Immune System. GO annotations related to this gene include cytokine activity and tumor necrosis factor receptor superfamily binding. An important paralog of this gene is TNFSF10.

UniProtKB/Swiss-Prot for TNFSF11 Gene

  • 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 (PubMed:22664871). Induces osteoclastogenesis by activating multiple signaling pathways in osteoclast precursor cells, chief among which is induction of long lasting oscillations in the intracellular concentration of Ca (2+) resulting in the activation of NFATC1, which translocates to the nucleus and induces osteoclast-specific gene transcription to allow differentiation of osteoclasts. During osteoclast differentiation, in a TMEM64 and ATP2A2-dependent manner induces activation of CREB1 and mitochondrial ROS generation necessary for proper osteoclast generation (By similarity).

Gene Wiki entry for TNFSF11 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TNFSF11 Gene

Genomics for TNFSF11 Gene

Regulatory Elements for TNFSF11 Gene

Genomic Location for TNFSF11 Gene

Chromosome:
13
Start:
42,562,736 bp from pter
End:
42,608,013 bp from pter
Size:
45,278 bases
Orientation:
Plus strand

Genomic View for TNFSF11 Gene

Genes around TNFSF11 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TNFSF11 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TNFSF11 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TNFSF11 Gene

Proteins for TNFSF11 Gene

  • Protein details for TNFSF11 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O14788-TNF11_HUMAN
    Recommended name:
    Tumor necrosis factor ligand superfamily member 11
    Protein Accession:
    O14788
    Secondary Accessions:
    • O14723
    • Q96Q17
    • Q9P2Q3

    Protein attributes for TNFSF11 Gene

    Size:
    317 amino acids
    Molecular mass:
    35478 Da
    Quaternary structure:
    • Homotrimer (Probable). Interacts with TNFRSF11B.

    Three dimensional structures from OCA and Proteopedia for TNFSF11 Gene

    Alternative splice isoforms for TNFSF11 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TNFSF11 Gene

Proteomics data for TNFSF11 Gene at MOPED

Post-translational modifications for TNFSF11 Gene

  • The soluble form of isoform 1 derives from the membrane form by proteolytic processing (By similarity). The cleavage may be catalyzed by ADAM17.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for TNFSF11 Gene

Antibody Products

  • R&D Systems Antibodies for TNFSF11 (TRANCE/TNFSF11/RANK L)
  • Cell Signaling Technology (CST) Antibodies for TNFSF11 (TNFSF11)

Protein Products

  • Enzo Life Sciences proteins for TNFSF11
  • Cloud-Clone Corp. Proteins for TNFSF11

Assay Products

  • Enzo Life Sciences assays for TNFSF11

No data available for DME Specific Peptides for TNFSF11 Gene

Domains & Families for TNFSF11 Gene

Gene Families for TNFSF11 Gene

Protein Domains for TNFSF11 Gene

Suggested Antigen Peptide Sequences for TNFSF11 Gene

Graphical View of Domain Structure for InterPro Entry

O14788

UniProtKB/Swiss-Prot:

TNF11_HUMAN :
  • Belongs to the tumor necrosis factor family.
Family:
  • Belongs to the tumor necrosis factor family.
genes like me logo Genes that share domains with TNFSF11: view

Function for TNFSF11 Gene

Molecular function for TNFSF11 Gene

GENATLAS Biochemistry:
tumor necrosis factor superfamily,member 11 TNFRSF11A (RANK) and OPG (osteprogerin ligand),localized in T cells bone marrow stromal cells,hypertrophic chondrocyte,stimulated by IL1B and TNFRSF11B,expressed in bone, brain,heart,kidney,skeletal muscle,skin,cooperating with prostaglandin,mediating osteoclastognesis and bone loss through systemic activation of T cells,regulating lymph node organogenesis lymphocyte development and interactions between T cells and dendritic cells,activating the antiapoptotic serine threonine kinase AKT/PKB through a signal complex involving TRAF6 and SRC
UniProtKB/Swiss-Prot 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 (PubMed:22664871). Induces osteoclastogenesis by activating multiple signaling pathways in osteoclast precursor cells, chief among which is induction of long lasting oscillations in the intracellular concentration of Ca (2+) resulting in the activation of NFATC1, which translocates to the nucleus and induces osteoclast-specific gene transcription to allow differentiation of osteoclasts. During osteoclast differentiation, in a TMEM64 and ATP2A2-dependent manner induces activation of CREB1 and mitochondrial ROS generation necessary for proper osteoclast generation (By similarity).
UniProtKB/Swiss-Prot Induction:
Up-regulated by T-cell receptor stimulation.
genes like me logo Genes that share phenotypes with TNFSF11: view

Human Phenotype Ontology for TNFSF11 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for TNFSF11 Gene

MGI Knock Outs for TNFSF11:

Animal Model Products

CRISPR Products

miRNA for TNFSF11 Gene

miRTarBase miRNAs that target TNFSF11

Inhibitory RNA Products

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Transcription Factor Targets and HOMER Transcription for TNFSF11 Gene

Localization for TNFSF11 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TNFSF11 Gene

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

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for TNFSF11 Gene COMPARTMENTS Subcellular localization image for TNFSF11 gene
Compartment Confidence
extracellular 5
plasma membrane 5
nucleus 3
cytoskeleton 2
cytosol 2
endoplasmic reticulum 2
mitochondrion 2
vacuole 2
lysosome 1

No data available for Gene Ontology (GO) - Cellular Components for TNFSF11 Gene

Pathways & Interactions for TNFSF11 Gene

genes like me logo Genes that share pathways with TNFSF11: view

SIGNOR curated interactions for TNFSF11 Gene

Activates:
Is activated by:

Gene Ontology (GO) - Biological Process for TNFSF11 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001503 ossification IEA --
GO:0002158 osteoclast proliferation IEA --
GO:0002548 monocyte chemotaxis IDA 15248232
GO:0006955 immune response IEA,NAS 9312132
GO:0007257 activation of JUN kinase activity IEA --
genes like me logo Genes that share ontologies with TNFSF11: view

Drugs & Compounds for TNFSF11 Gene

(60) Drugs for TNFSF11 Gene - From: Novoseek, DGIdb, DrugBank, FDA Approved Drugs, HMDB, and PharmGKB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Lenalidomide Approved Pharma Anti-angiogenic., inhibitor, Target Anti-angiogenic. 674
Denosumab Approved Pharma antagonist, antibody, Target RANKL antagonist, Osteoclast function modifiers (important in bone metastasis) 120
Anastrozole Approved, Investigational Pharma Aromatase inhibitor, Aromatase Inhibitors, Hormone therapy 262
Letrozole Approved, Investigational Pharma Non-steroidal aromatase inhibitor, Aromatase Inhibitors 358
Revlimid Approved June 2013 Pharma 0

(46) Additional Compounds for TNFSF11 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with TNFSF11: view

Transcripts for TNFSF11 Gene

Unigene Clusters for TNFSF11 Gene

Tumor necrosis factor (ligand) superfamily, member 11:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for TNFSF11 Gene

No ASD Table

Relevant External Links for TNFSF11 Gene

GeneLoc Exon Structure for
TNFSF11
ECgene alternative splicing isoforms for
TNFSF11

Expression for TNFSF11 Gene

mRNA expression in normal human tissues for TNFSF11 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for TNFSF11 Gene

This gene is overexpressed in Small Intestine - Terminal Ileum (x4.8).

SOURCE GeneReport for Unigene cluster for TNFSF11 Gene Hs.333791

mRNA Expression by UniProt/SwissProt for TNFSF11 Gene

O14788-TNF11_HUMAN
Tissue specificity: Highest in the peripheral lymph nodes, weak in spleen, peripheral blood Leukocytes, bone marrow, heart, placenta, skeletal muscle, stomach and thyroid.
genes like me logo Genes that share expression patterns with TNFSF11: view

Primer Products

In Situ Assay Products

No data available for Protein differential expression in normal tissues , Protein expression and Protein tissue co-expression partners for TNFSF11 Gene

Orthologs for TNFSF11 Gene

This gene was present in the common ancestor of chordates.

Orthologs for TNFSF11 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia TNFSF11 35
  • 87.55 (n)
  • 89.87 (a)
TNFSF11 36
  • 90 (a)
OneToOne
dog
(Canis familiaris)
Mammalia TNFSF11 35
  • 89.21 (n)
  • 88.89 (a)
TNFSF11 36
  • 89 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Tnfsf11 35
  • 83.07 (n)
  • 85.08 (a)
Tnfsf11 16
Tnfsf11 36
  • 84 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia TNFSF11 35
  • 99.26 (n)
  • 99.37 (a)
TNFSF11 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Tnfsf11 35
  • 82.33 (n)
  • 82.33 (a)
oppossum
(Monodelphis domestica)
Mammalia TNFSF11 36
  • 73 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia TNFSF11 36
  • 78 (a)
OneToOne
chicken
(Gallus gallus)
Aves TNFSF11 35
  • 68.41 (n)
  • 61.45 (a)
TNFSF11 36
  • 40 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia TNFSF11 36
  • 62 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia tnfsf11 35
  • 54.26 (n)
  • 45.04 (a)
zebrafish
(Danio rerio)
Actinopterygii tnfsf11 36
  • 23 (a)
OneToOne
Species with no ortholog for TNFSF11:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for TNFSF11 Gene

ENSEMBL:
Gene Tree for TNFSF11 (if available)
TreeFam:
Gene Tree for TNFSF11 (if available)

Paralogs for TNFSF11 Gene

Paralogs for TNFSF11 Gene

(1) SIMAP similar genes for TNFSF11 Gene using alignment to 2 proteins:

Pseudogenes.org Pseudogenes for TNFSF11 Gene

genes like me logo Genes that share paralogs with TNFSF11: view

Variants for TNFSF11 Gene

Sequence variations from dbSNP and Humsavar for TNFSF11 Gene

SNP ID Clin Chr 13 pos Sequence Context AA Info Type
VAR_037424 Osteopetrosis, autosomal recessive 2 (OPTB2)
rs189398 -- 42,592,810(-) tgaga(C/T)tcact intron-variant
rs346574 -- 42,606,367(-) ATTGG(C/T)ATTTC intron-variant
rs346575 -- 42,607,182(+) ACGGG(G/T)TGACC utr-variant-3-prime
rs346576 -- 42,608,330(+) AACTG(C/T)gcatg downstream-variant-500B

Structural Variations from Database of Genomic Variants (DGV) for TNFSF11 Gene

Variant ID Type Subtype PubMed ID
esv33319 CNV Loss 17666407
nsv832593 CNV Gain 17160897
esv2747320 CNV Deletion 23290073

Variation tolerance for TNFSF11 Gene

Residual Variation Intolerance Score: 57.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.78; 47.33% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for TNFSF11 Gene

HapMap Linkage Disequilibrium report
TNFSF11
Human Gene Mutation Database (HGMD)
TNFSF11

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TNFSF11 Gene

Disorders for TNFSF11 Gene

MalaCards: The human disease database

(66) MalaCards diseases for TNFSF11 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
osteopetrosis, autosomal recessive 2
  • osteopetrosis autosomal recessive 2
autosomal recessive malignant osteopetrosis
  • infantile malignant osteopetrosis
tnfsf11-related autosomal recessive osteopetrosis
bone cancer
  • bone neoplasm
periapical granuloma
  • apical granuloma
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

TNF11_HUMAN
  • 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:0000269 PubMed:17632511}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for TNFSF11

Genetic Association Database (GAD)
TNFSF11
Human Genome Epidemiology (HuGE) Navigator
TNFSF11
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
TNFSF11
genes like me logo Genes that share disorders with TNFSF11: view

No data available for Genatlas for TNFSF11 Gene

Publications for TNFSF11 Gene

  1. A homologue of the TNF receptor and its ligand enhance T-cell growth and dendritic-cell function. (PMID: 9367155) Anderson D.M. … Galibert L. (Nature 1997) 2 3 4 67
  2. Over-expression of receptor activator of nuclear factor-kappaB ligand (RANKL), inflammatory cytokines, and chemokines in periprosthetic osteolysis of loosened total hip arthroplasty. (PMID: 19781765) Wang C.T. … Hou S.M. (Biomaterials 2010) 3 23
  3. RANKL/OPG in primary cultures of osteoblasts from post-menopausal women. Differences between osteoporotic hip fractures and osteoarthritis. (PMID: 19073256) Giner M. … PAcrez-Cano R. (J. Steroid Biochem. Mol. Biol. 2009) 3 23
  4. Osteoprotegerin and RANKL differentially regulate angiogenesis and endothelial cell function. (PMID: 19105036) McGonigle J.S. … Scatena M. (Angiogenesis 2009) 3 23
  5. The combinations of polymorphisms in vitamin D receptor, osteoprotegerin and tumour necrosis factor superfamily member 11 genes are associated with bone mineral density. (PMID: 19131500) Mencej-Bedrac S. … Marc J. (J. Mol. Endocrinol. 2009) 3 23

Products for TNFSF11 Gene

Sources for TNFSF11 Gene

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