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Aliases for TNFRSF11A Gene

Aliases for TNFRSF11A Gene

  • Tumor Necrosis Factor Receptor Superfamily Member 11a 2 3 5
  • Tumor Necrosis Factor Receptor Superfamily, Member 11a, NFKB Activator 2 3
  • Loss Of Heterozygosity, 18, Chromosomal Region 1 2 3
  • Osteoclast Differentiation Factor Receptor 3 4
  • Receptor Activator Of NF-KB 3 4
  • Paget Disease Of Bone 2 2 3
  • ODFR 3 4
  • RANK 3 4
  • Tumor Necrosis Factor Receptor Superfamily, Member 11a, Activator Of NFKB 2
  • Tumor Necrosis Factor Receptor Superfamily Member 11a, NFKB Activator 3
  • Receptor Activator Of Nuclear Factor-Kappa B 3
  • CD265 Antigen 4
  • LOH18CR1 3
  • TRANCER 3
  • CD265 3
  • OPTB7 3
  • OSTS 3
  • PDB2 3
  • FEO 3
  • OFE 3

External Ids for TNFRSF11A Gene

Previous HGNC Symbols for TNFRSF11A Gene

  • PDB2
  • LOH18CR1

Previous GeneCards Identifiers for TNFRSF11A Gene

  • GC18P059830
  • GC18P059965
  • GC18P058141
  • GC18P058143
  • GC18P056703
  • GC18P059992

Summaries for TNFRSF11A Gene

Entrez Gene Summary for TNFRSF11A Gene

  • The protein encoded by this gene is a member of the TNF-receptor superfamily. This receptors can interact with various TRAF family proteins, through which this receptor induces the activation of NF-kappa B and MAPK8/JNK. This receptor and its ligand are important regulators of the interaction between T cells and dendritic cells. This receptor is also an essential mediator for osteoclast and lymph node development. Mutations at this locus have been associated with familial expansile osteolysis, autosomal recessive osteopetrosis, and Paget disease of bone. Alternatively spliced transcript variants have been described for this locus. [provided by RefSeq, Aug 2012]

GeneCards Summary for TNFRSF11A Gene

TNFRSF11A (Tumor Necrosis Factor Receptor Superfamily Member 11a) is a Protein Coding gene. Diseases associated with TNFRSF11A include osteolysis, familial expansile and osteopetrosis, autosomal recessive 7. Among its related pathways are Immune System and Interleukin-3, 5 and GM-CSF signaling. GO annotations related to this gene include receptor activity and cytokine binding. An important paralog of this gene is TNFRSF14.

UniProtKB/Swiss-Prot for TNFRSF11A Gene

  • Receptor for TNFSF11/RANKL/TRANCE/OPGL; essential for RANKL-mediated osteoclastogenesis. Involved in the regulation of interactions between T-cells and dendritic cells.

Gene Wiki entry for TNFRSF11A Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TNFRSF11A Gene

Genomics for TNFRSF11A Gene

Regulatory Elements for TNFRSF11A Gene

Promoters for TNFRSF11A Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around TNFRSF11A on UCSC Golden Path with GeneCards custom track

Transcription factor binding sites by QIAGEN in the TNFRSF11A gene promoter:

Genomic Location for TNFRSF11A Gene

Chromosome:
18
Start:
62,325,287 bp from pter
End:
62,391,292 bp from pter
Size:
66,006 bases
Orientation:
Plus strand

Genomic View for TNFRSF11A Gene

Genes around TNFRSF11A on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TNFRSF11A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TNFRSF11A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TNFRSF11A Gene

Proteins for TNFRSF11A Gene

  • Protein details for TNFRSF11A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9Y6Q6-TNR11_HUMAN
    Recommended name:
    Tumor necrosis factor receptor superfamily member 11A
    Protein Accession:
    Q9Y6Q6
    Secondary Accessions:
    • I4EC36
    • I4EC38
    • I4EC39
    • I7JE63
    • N0GVH0
    • Q59EP9

    Protein attributes for TNFRSF11A Gene

    Size:
    616 amino acids
    Molecular mass:
    66034 Da
    Quaternary structure:
    • Binds to the clefts between the subunits of the TNFSF11 ligand trimer to form a heterohexamer (By similarity). Interacts with TRAF1, TRAF2, TRAF3, TRAF5 and TRAF6. Interacts (via cytoplasmic domain) with GAB2.
    SequenceCaution:
    • Sequence=BAD92999.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for TNFRSF11A Gene

    Alternative splice isoforms for TNFRSF11A Gene

neXtProt entry for TNFRSF11A Gene

Proteomics data for TNFRSF11A Gene at MOPED

Post-translational modifications for TNFRSF11A Gene

  • Glycosylation at Asn 105 and Asn 174
  • Modification sites at PhosphoSitePlus

Other Protein References for TNFRSF11A Gene

Antibody Products

  • R&D Systems Antibodies for TNFRSF11A (RANK/TNFRSF11A)
  • Cell Signaling Technology (CST) Antibodies for TNFRSF11A (TNFRSF11A)

Protein Products

  • Enzo Life Sciences proteins for TNFRSF11A
  • Cloud-Clone Corp. Proteins for TNFRSF11A

No data available for DME Specific Peptides for TNFRSF11A Gene

Domains & Families for TNFRSF11A Gene

Protein Domains for TNFRSF11A Gene

Suggested Antigen Peptide Sequences for TNFRSF11A Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9Y6Q6

UniProtKB/Swiss-Prot:

TNR11_HUMAN :
  • Contains 4 TNFR-Cys repeats.
Similarity:
  • Contains 4 TNFR-Cys repeats.
genes like me logo Genes that share domains with TNFRSF11A: view

Function for TNFRSF11A Gene

Molecular function for TNFRSF11A Gene

GENATLAS Biochemistry:
tumor necrosis factor receptor superfamily,member 11A,intrinsic hematopoietic cell surface receptor,expressed in dentritic cells,osteoclast precursors,receptor activator of NFKB,stimulator of JUN kinase,adaptor of TRAFs TNFR-associated factors,mediating osteoprotegerin ligand (TNFSF11) ligand effects for osteoclastogenesis and regulating bone mass and calcium metabolism
UniProtKB/Swiss-Prot Function:
Receptor for TNFSF11/RANKL/TRANCE/OPGL; essential for RANKL-mediated osteoclastogenesis. Involved in the regulation of interactions between T-cells and dendritic cells.

Gene Ontology (GO) - Molecular Function for TNFRSF11A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005031 tumor necrosis factor-activated receptor activity ISS 19940926
GO:0005515 protein binding IEA,IPI 15750601
genes like me logo Genes that share ontologies with TNFRSF11A: view
genes like me logo Genes that share phenotypes with TNFRSF11A: view

Human Phenotype Ontology for TNFRSF11A Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for TNFRSF11A Gene

MGI Knock Outs for TNFRSF11A:

Animal Model Products

CRISPR Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for TNFRSF11A Gene

Localization for TNFRSF11A Gene

Subcellular locations from UniProtKB/Swiss-Prot for TNFRSF11A Gene

Isoform 1: Cell membrane; Single-pass type I membrane protein.
Isoform RANK-e5a: Cell membrane; Single-pass type I membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for TNFRSF11A Gene COMPARTMENTS Subcellular localization image for TNFRSF11A gene
Compartment Confidence
plasma membrane 5
cytosol 3
endoplasmic reticulum 2
extracellular 2
mitochondrion 2
nucleus 2
cytoskeleton 1
golgi apparatus 1
lysosome 1
vacuole 1

No data available for Gene Ontology (GO) - Cellular Components for TNFRSF11A Gene

Pathways & Interactions for TNFRSF11A Gene

genes like me logo Genes that share pathways with TNFRSF11A: view

Gene Ontology (GO) - Biological Process for TNFRSF11A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001503 ossification IEA --
GO:0002250 adaptive immune response IMP 18606301
GO:0002548 monocyte chemotaxis NAS 15248232
GO:0006954 inflammatory response IBA --
GO:0007165 signal transduction TAS 9367155
genes like me logo Genes that share ontologies with TNFRSF11A: view

No data available for SIGNOR curated interactions for TNFRSF11A Gene

Drugs & Compounds for TNFRSF11A Gene

(15) Drugs for TNFRSF11A Gene - From: Novoseek, IUPHAR, DGIdb, and PharmGKB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Denosumab Approved Pharma antagonist, antibody RANKL antagonist, Osteoclast function modifiers (important in bone metastasis) 120
Acetaminophen Approved Pharma 864
Aspirin Approved Pharma Channel blocker 1029
Diclofenac Approved Pharma Channel blocker 273
RANK ligand Pharma 0

(11) Additional Compounds for TNFRSF11A Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with TNFRSF11A: view

Transcripts for TNFRSF11A Gene

Alternative Splicing Database (ASD) splice patterns (SP) for TNFRSF11A Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10a · 10b
SP1:
SP2: - - -

Relevant External Links for TNFRSF11A Gene

GeneLoc Exon Structure for
TNFRSF11A
ECgene alternative splicing isoforms for
TNFRSF11A

Expression for TNFRSF11A Gene

mRNA expression in normal human tissues for TNFRSF11A Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for TNFRSF11A Gene

This gene is overexpressed in Colon - Transverse (x7.3), Pituitary (x4.4), and Small Intestine - Terminal Ileum (x4.1).

SOURCE GeneReport for Unigene cluster for TNFRSF11A Gene Hs.204044

mRNA Expression by UniProt/SwissProt for TNFRSF11A Gene

Q9Y6Q6-TNR11_HUMAN
Tissue specificity: Ubiquitous expression with high levels in skeletal muscle, thymus, liver, colon, small intestine and adrenal gland.
genes like me logo Genes that share expression patterns with TNFRSF11A: 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 TNFRSF11A Gene

Orthologs for TNFRSF11A Gene

This gene was present in the common ancestor of chordates.

Orthologs for TNFRSF11A Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia TNFRSF11A 35
  • 75.83 (n)
  • 67.65 (a)
TNFRSF11A 36
  • 63 (a)
OneToOne
dog
(Canis familiaris)
Mammalia TNFRSF11A 35
  • 81.92 (n)
  • 74.27 (a)
TNFRSF11A 36
  • 71 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Tnfrsf11a 35
  • 77.57 (n)
  • 69.38 (a)
Tnfrsf11a 16
Tnfrsf11a 36
  • 67 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia TNFRSF11A 35
  • 98.7 (n)
  • 97.8 (a)
TNFRSF11A 36
  • 98 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Tnfrsf11a 35
  • 77.26 (n)
  • 69.57 (a)
oppossum
(Monodelphis domestica)
Mammalia TNFRSF11A 36
  • 50 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia TNFRSF11A 36
  • 51 (a)
OneToOne
chicken
(Gallus gallus)
Aves TNFRSF11A 35
  • 58.13 (n)
  • 48.63 (a)
TNFRSF11A 36
  • 42 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia TNFRSF11A 36
  • 41 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia tnfrsf11a 35
  • 58.79 (n)
  • 52.73 (a)
zebrafish
(Danio rerio)
Actinopterygii CT573348.1 36
  • 24 (a)
OneToOne
Species with no ortholog for TNFRSF11A:
  • 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 TNFRSF11A Gene

ENSEMBL:
Gene Tree for TNFRSF11A (if available)
TreeFam:
Gene Tree for TNFRSF11A (if available)

Paralogs for TNFRSF11A Gene

Paralogs for TNFRSF11A Gene

(1) SIMAP similar genes for TNFRSF11A Gene using alignment to 5 proteins:

genes like me logo Genes that share paralogs with TNFRSF11A: view

Variants for TNFRSF11A Gene

Sequence variations from dbSNP and Humsavar for TNFRSF11A Gene

SNP ID Clin Chr 18 pos Sequence Context AA Info Type
rs1805034 - 62,360,008(+) CGATG(C/T)GGTTT nc-transcript-variant, reference, missense
VAR_046788 Osteopetrosis, autosomal recessive 7 (OPTB7)
VAR_046789 Osteopetrosis, autosomal recessive 7 (OPTB7)
rs35211496 - 62,354,528(+) CCCAG(C/T)ACCCG nc-transcript-variant, reference, synonymous-codon, missense
VAR_046791 Osteopetrosis, autosomal recessive 7 (OPTB7)

Variation tolerance for TNFRSF11A Gene

Residual Variation Intolerance Score: 56.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.87; 67.43% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for TNFRSF11A Gene

HapMap Linkage Disequilibrium report
TNFRSF11A
Human Gene Mutation Database (HGMD)
TNFRSF11A

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for TNFRSF11A Gene

Disorders for TNFRSF11A Gene

MalaCards: The human disease database

(20) MalaCards diseases for TNFRSF11A Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
osteolysis, familial expansile
  • polyostotic osteolytic dysplasia, hereditary expansile
osteopetrosis, autosomal recessive 7
  • osteopetrosis autosomal recessive 7
paget disease of bone 2, early-onset
  • pdb2
osteopetrosis-hypogammaglobulinemia syndrome
  • autosomal recessive osteoclast-poor osteopetrosis with hypogammaglobulinemia
paget's disease of bone
  • familial paget's disease of bone
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

TNR11_HUMAN
  • 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:0000269 PubMed: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:0000269 PubMed:18606301}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Paget disease of bone 2, early-onset (PDB2) [MIM:602080]: A form of Paget disease, a disorder of bone remodeling characterized by increased bone turnover affecting one or more sites throughout the skeleton, primarily the axial skeleton. Osteoclastic overactivity followed by compensatory osteoblastic activity leads to a structurally disorganized mosaic of bone (woven bone), which is mechanically weaker, larger, less compact, more vascular, and more susceptible to fracture than normal adult lamellar bone. {ECO:0000269 PubMed:10615125}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for TNFRSF11A

Genetic Association Database (GAD)
TNFRSF11A
Human Genome Epidemiology (HuGE) Navigator
TNFRSF11A
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
TNFRSF11A
genes like me logo Genes that share disorders with TNFRSF11A: view

No data available for Genatlas for TNFRSF11A Gene

Publications for TNFRSF11A Gene

  1. Mutations in TNFRSF11A, affecting the signal peptide of RANK, cause familial expansile osteolysis. (PMID: 10615125) Hughes A.E. … Anderson D.M. (Nat. Genet. 2000) 2 3 4 23 67
  2. High expression levels of IKKalpha and IKKbeta are necessary for the malignant properties of liver cancer. (PMID: 19728335) Jiang R. … Sun B. (Int. J. Cancer 2010) 3 23
  3. Gene-gene interactions in RANK/RANKL/OPG system influence bone mineral density in postmenopausal women. (PMID: 19896533) Zupan J. … Marc J. (J. Steroid Biochem. Mol. Biol. 2010) 3 23
  4. Genetic variations in genes encoding RANK, RANKL, and OPG in rheumatoid arthritis: a case-control study. (PMID: 20231205) Assmann G. … Wieczorek S. (J. Rheumatol. 2010) 3 23
  5. Dysregulated RANK ligand/RANK axis in hyperhomocysteinemic subjects: effect of treatment with B-vitamins. (PMID: 19008470) Nenseter M.S. … Holven K.B. (Stroke 2009) 3 23

Products for TNFRSF11A Gene

Sources for TNFRSF11A Gene

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