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Aliases for TNFRSF11A Gene

Aliases for TNFRSF11A Gene

  • Tumor Necrosis Factor Receptor Superfamily, Member 11a, NFKB Activator 2 3
  • ODFR 3 4 6
  • RANK 3 4 6
  • 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
  • OPTB7 3 6
  • OFE 3 6
  • Tumor Necrosis Factor Receptor Superfamily, Member 11a, Activator Of NFKB 2
  • Tumor Necrosis Factor Receptor Superfamily Member 11A 3
  • Receptor Activator Of Nuclear Factor-Kappa B 3
  • CD265 Antigen 4
  • LOH18CR1 3
  • TRANCER 3
  • CD265 3
  • OSTS 3
  • PDB2 3
  • FEO 3

External Ids for TNFRSF11A Gene

Previous Symbols for TNFRSF11A Gene

  • PDB2
  • LOH18CR1

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, NFKB Activator) is a Protein Coding gene. Diseases associated with TNFRSF11A include osteopetrosis, autosomal recessive 7 and periostitis. Among its related pathways are Akt Signaling and Akt 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

Genomic Location for TNFRSF11A Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for TNFRSF11A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TNFRSF11A Gene

Regulatory Elements for TNFRSF11A Gene

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

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

  • Modification sites at PhosphoSitePlus
  • Glycosylation at Asn105 and Asn174

Other Protein References for TNFRSF11A Gene

No data available for DME Specific Peptides for TNFRSF11A Gene

Domains for TNFRSF11A Gene

Gene Families for TNFRSF11A Gene

HGNC:
  • CD :CD molecules
  • TNFRSF :Tumor necrosis factor receptor superfamily
IUPHAR :

Protein Domains for TNFRSF11A Gene

UniProtKB/Swiss-Prot:

TNR11_HUMAN
Similarity:
  • Contains 4 TNFR-Cys repeats.:
    • Q9Y6Q6
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:0004872 receptor activity TAS 9367155
GO:0004888 transmembrane signaling receptor activity IDA 9367155
GO:0005031 tumor necrosis factor-activated receptor activity ISS 19940926
GO:0005515 protein binding IPI 15750601
GO:0019955 cytokine binding IPI 9367155
genes like me logo Genes that share ontologies with TNFRSF11A: view
genes like me logo Genes that share phenotypes with TNFRSF11A: view

Animal Models for TNFRSF11A Gene

MGI Knock Outs for TNFRSF11A:

miRNA for TNFRSF11A Gene

miRTarBase miRNAs that target TNFRSF11A

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting 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 4
extracellular 2
nucleus 2
cytosol 1
endoplasmic reticulum 1
golgi apparatus 1
mitochondrion 1

Gene Ontology (GO) - Cellular Components for TNFRSF11A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0009897 external side of plasma membrane IDA 9367155
GO:0009986 cell surface --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with TNFRSF11A: view

Pathways 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:0007165 signal transduction TAS 9367155
GO:0007267 cell-cell signaling TAS 9367155
genes like me logo Genes that share ontologies with TNFRSF11A: view

Compounds for TNFRSF11A Gene

(1) IUPHAR Ligand for TNFRSF11A Gene

Ligand Type Action Affinity Pubmed IDs
RANK ligand None None

(20) Novoseek inferred chemical compound relationships for TNFRSF11A Gene

Compound -log(P) Hits PubMed IDs
denosumab 89.4 2
laccer 44.6 3
1,25 dihydroxy vitamin d3 35.8 1
estrogen 32.3 2
raloxifene 29.7 1
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 (7.3), Pituitary (4.4), and Small Intestine - Terminal Ileum (4.1).

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 expressions with TNFRSF11A: view

Orthologs for TNFRSF11A Gene

This gene was present in the common ancestor of chordates.

Orthologs for TNFRSF11A Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia TNFRSF11A 36
  • 98.7 (n)
  • 97.8 (a)
TNFRSF11A 37
  • 98 (a)
OneToOne
cow
(Bos Taurus)
Mammalia TNFRSF11A 36
  • 75.83 (n)
  • 67.65 (a)
TNFRSF11A 37
  • 63 (a)
OneToOne
dog
(Canis familiaris)
Mammalia TNFRSF11A 36
  • 81.92 (n)
  • 74.27 (a)
TNFRSF11A 37
  • 71 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Tnfrsf11a 36
  • 77.57 (n)
  • 69.38 (a)
Tnfrsf11a 16
Tnfrsf11a 37
  • 67 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia TNFRSF11A 37
  • 50 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia TNFRSF11A 37
  • 51 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Tnfrsf11a 36
  • 77.26 (n)
  • 69.57 (a)
chicken
(Gallus gallus)
Aves TNFRSF11A 36
  • 58.13 (n)
  • 48.63 (a)
TNFRSF11A 37
  • 42 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia TNFRSF11A 37
  • 41 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia tnfrsf11a 36
  • 58.79 (n)
  • 52.73 (a)
zebrafish
(Danio rerio)
Actinopterygii CT573348.1 37
  • 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

Selected 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 MAF
rs884205 -- 62,387,624(-) TTTAA(G/T)AAATT utr-variant-3-prime
rs1805033 -- 62,325,344(+) gcctg(C/T)cccgc utr-variant-5-prime
rs1805034 - 62,360,008(+) CGATG(C/T)GGTTT reference, missense
rs2980962 -- 62,384,080(+) acaca(A/C)ataca intron-variant
rs2980963 -- 62,385,500(+) ttttt(G/T)ggcaa utr-variant-3-prime

Relevant External Links for TNFRSF11A Gene

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

No data available for Structural Variations from Database of Genomic Variants (DGV) for TNFRSF11A Gene

Disorders for TNFRSF11A Gene

(3) OMIM Diseases for TNFRSF11A Gene (603499)

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.
  • 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: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.

(1) University of Copenhagen DISEASES for TNFRSF11A Gene

(40) Novoseek inferred disease relationships for TNFRSF11A Gene

Disease -log(P) Hits PubMed IDs
familial expansile osteolysis 93.6 13
paget disease, juvenile 82.3 3
bone destruction 82.3 6
osteolysis 81.6 12
bone diseases 81.3 16

Relevant External Links for TNFRSF11A

Genetic Association Database (GAD)
TNFRSF11A
Human Genome Epidemiology (HuGE) Navigator
TNFRSF11A
genes like me logo Genes that share disorders with TNFRSF11A: view

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
  2. The TRAF family of signal transducers mediates NF-kappaB activation by the TRANCE receptor. (PMID: 9774460) Wong B.R. … Choi Y. (J. Biol. Chem. 1998) 3 4 23
  3. The molecular scaffold Gab2 is a crucial component of RANK signaling and osteoclastogenesis. (PMID: 15750601) Wada T. … Penninger J.M. (Nat. Med. 2005) 3 4 23
  4. Is a gene important for bone resorption a candidate for obesity? An association and linkage study on the RANK (receptor activator of nuclear factor-kappaB) gene in a large Caucasian sample. (PMID: 16960694) Zhao L.J. … Deng H.W. (Hum. Genet. 2006) 3 23 49
  5. Identification of novel RANK polymorphisms and their putative association with low BMD among postmenopausal women. (PMID: 17115234) Koh J.M. … Shin H.D. (Osteoporos Int 2007) 3 23 49

Products for TNFRSF11A Gene

Sources for TNFRSF11A Gene

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