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TNFRSF11A Gene

protein-coding   GIFtS: 68
GCID: GC18P059992

Tumor Necrosis Factor Receptor Superfamily, Member 11a,...

(Previous names: tumor necrosis factor receptor superfamily, member 11a,...)
(Previous symbols: PDB2, LOH18CR1)
  See TNFRSF11A-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Tumor Necrosis Factor Receptor Superfamily, Member 11a, NFKB
Activator1 2
     OPTB72 5
ODFR2 3 5     Tumor Necrosis Factor Receptor Superfamily, Member 11a, Activator Of NFKB1
RANK2 3 5     CD2652
LOH18CR11 2     FEO2
PDB21 2     OSTS2
Loss Of Heterozygosity, 18, Chromosomal Region 11 2     TRANCER2
Paget Disease Of Bone 21 2     Receptor Activator Of Nuclear Factor-Kappa B2
Osteoclast Differentiation Factor Receptor2 3     Tumor Necrosis Factor Receptor Superfamily Member 11A2
Receptor Activator Of NF-KB2 3     CD265 Antigen3
OFE2 5     

External Ids:    HGNC: 119081   Entrez Gene: 87922   Ensembl: ENSG000001416557   OMIM: 6034995   UniProtKB: Q9Y6Q63   

Export aliases for TNFRSF11A gene to outside databases

Previous GC identifers: GC18P059830 GC18P059965 GC18P058141 GC18P058143 GC18P056703


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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. GO annotations related to this gene include cytokine binding and receptor activity. An important paralog of this gene is TNFRSF21.

UniProtKB/Swiss-Prot: TNR11_HUMAN, Q9Y6Q6
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 Wiki entry for TNFRSF11A (RANK) Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000018.9  NT_010966.15  NC_018929.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the TNFRSF11A gene promoter:
         TBP   AML1a   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidTNFRSF11A promoter sequence
   Search Chromatin IP Primers for TNFRSF11A

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat TNFRSF11A


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 18q22.1   Ensembl cytogenetic band:  18q21.33   HGNC cytogenetic band: 18q22.1

TNFRSF11A Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
TNFRSF11A gene location

GeneLoc information about chromosome 18         GeneLoc Exon Structure

GeneLoc location for GC18P059992:  view genomic region     (about GC identifiers)

Start:
59,992,520 bp from pter      End:
60,058,516 bp from pter
Size:
65,997 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: TNR11_HUMAN, Q9Y6Q6 (See protein sequence)
Recommended Name: Tumor necrosis factor receptor superfamily member 11A precursor  
Size: 616 amino acids; 66034 Da
Subunit: 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
1 PDB 3D structure from and Proteopedia for TNFRSF11A:
1LB5 (3D)    
Secondary accessions: I4EC39
Alternative splicing: 2 isoforms:  Q9Y6Q6-1   Q9Y6Q6-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for TNFRSF11A: NX_Q9Y6Q6

Explore proteomics data for TNFRSF11A at MOPED

Post-translational modifications: 

  • Glycosylation2 at Asn105, Asn174
  • Modification sites at PhosphoSitePlus

  • See TNFRSF11A Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (5 alternative transcripts): 
    NP_001257878.1  NP_001257879.1  NP_001257880.1  NP_001265197.1  NP_003830.1  

    ENSEMBL proteins: 
     ENSP00000269485   ENSP00000465500  

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    CD: CD molecules
    TNFRSF: Tumor necrosis factor receptor superfamily

    IUPHAR Guide to PHARMACOLOGY protein family classification: receptor activator of NF-kappa B
    Tumour necrosis factor (TNF) receptor family

    3 InterPro protein domains:
     IPR001368 TNFR/NGFR_Cys_rich_reg
     IPR022323 TNFR_11
     IPR022361 TNFR_11A

    Graphical View of Domain Structure for InterPro Entry Q9Y6Q6

    ProtoNet protein and cluster: Q9Y6Q6

    1 Blocks protein domain: IPB001368 TNFR/CD27/30/40/95 cysteine-rich region

    UniProtKB/Swiss-Prot: TNR11_HUMAN, Q9Y6Q6
    Similarity: Contains 4 TNFR-Cys repeats


    Find genes that share domains with TNFRSF11A           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: TNR11_HUMAN, Q9Y6Q6
    Function: Receptor for TNFSF11/RANKL/TRANCE/OPGL; essential for RANKL-mediated osteoclastogenesis. Involved in the
    regulation of interactions between T-cells and dendritic cells

         Genatlas biochemistry entry for TNFRSF11A:
    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

         Gene Ontology (GO): Selected molecular function terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004872receptor activity TAS9367155
    GO:0004888transmembrane signaling receptor activity IDA9367155
    GO:0005031tumor necrosis factor-activated receptor activity ISS19940926
    GO:0005515protein binding IPI15750601
    GO:0019955cytokine binding IPI9367155
         
    Find genes that share ontologies with TNFRSF11A           About GenesLikeMe


    Phenotypes:
         3 GenomeRNAi human phenotypes for TNFRSF11A:
     Decreased viability of wild-ty  Increased G2M DNA content  Increased number of mitotic ce 

         15 MGI mutant phenotypes (inferred from 6 alleles(MGI details for Tnfrsf11a):
     behavior/neurological  cellular  craniofacial  endocrine/exocrine gland  growth/size/body 
     hematopoietic system  homeostasis/metabolism  immune system  integument  limbs/digits/tail 
     liver/biliary system  mortality/aging  reproductive system  respiratory system  skeleton 

    Find genes that share phenotypes with TNFRSF11A           About GenesLikeMe

    Animal Models:
         MGI mouse knock-outs for TNFRSF11A: Tnfrsf11atm1.2Pngr Tnfrsf11atm1Imx Tnfrsf11atm1Wjb

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    hsa-miR-525-5p hsa-miR-520a-5p
    SwitchGear 3'UTR luciferase reporter plasmidTNFRSF11A 3' UTR sequence
    Inhib. RNA
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    TNR11_HUMAN, Q9Y6Q6: Membrane; Single-pass type I membrane protein (Potential)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane4
    extracellular2
    nucleus2
    cytosol1
    endoplasmic reticulum1
    golgi apparatus1
    mitochondrion1

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0009897external side of plasma membrane IDA9367155
    GO:0009986cell surface ----
    GO:0016021integral component of membrane IEA--

    Find genes that share ontologies with TNFRSF11A           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for TNFRSF11A About   (see all 18)  
    See pathways by source

    SuperPathContained pathways About
    1RANK Signaling in Osteoclasts
    RANK Signaling in Osteoclasts0.45
    RANKL/RANK Signaling Pathway0.31
    RANK Pathway0.38
    2PEDF Induced Signaling
    STAT3 Pathway0.47
    Cytokine-cytokine receptor interaction0.43
    3Akt Signaling
    Akt Signaling0.60
    Tec Kinases Signaling0.55
    p38 Signaling0.60
    4TRAF Pathway
    TRAF Pathway0.42
    TNF Superfamily Pathway0.42
    5PAK Pathway
    Antioxidant Action of Vitamin-C0.56


    Find genes that share SuperPaths with TNFRSF11A           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 R&D Systems Pathway for TNFRSF11A
        TNF Superfamily - Human Ligand-Receptor Interactions & their Associated Functions

    Selected Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for TNFRSF11A (see all 11)
        STAT3 Pathway
    TRAF Pathway
    Molecular Mechanisms of Cancer
    Antioxidant Action of Vitamin-C
    TRAIL Pathway

    2 Cell Signaling Technology (CST) Pathways for TNFRSF11A
        Apoptosis and Autophagy
    NF-kappaB Signaling

    2 GeneGo (Thomson Reuters) Pathways for TNFRSF11A
        Transcription Role of VDR in regulation of genes involved in osteoporosis
    Apoptosis and survival Anti-apoptotic TNFs/NF-kB/Bcl-2 pathway

    3 BioSystems Pathways for TNFRSF11A
        TNF-alpha/NF-kB Signaling Pathway
    RANKL/RANK Signaling Pathway
    Osteoclast Signaling



    5 Kegg Pathways  (Kegg details for TNFRSF11A):
        Cytokine-cytokine receptor interaction
    NF-kappa B signaling pathway
    Osteoclast differentiation
    Prolactin signaling pathway
    Rheumatoid arthritis

        Pathway & Disease-focused RT2 Profiler PCR Arrays including TNFRSF11A: 
              TNF Ligands & Receptors in human mouse rat
              Cancer Drug Resistance in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for TNFRSF11A

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for TNFRSF11A (Q9Y6Q63 ENSP000002694854) via UniProtKB, MINT, STRING, and/or I2D (see all 34)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    TRAF5O004633, ENSP000002614644I2D: score=6 STRING: ENSP00000261464
    MAP3K7O433183, ENSP000003583354I2D: score=3 STRING: ENSP00000358335
    CBLBQ131913, ENSP000002641224I2D: score=1 STRING: ENSP00000264122
    TRAF2Q129333, ENSP000002476684I2D: score=6 STRING: ENSP00000247668
    TRAF3Q131143, ENSP000003324684I2D: score=4 STRING: ENSP00000332468
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 24):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001503ossification IEA--
    GO:0002250adaptive immune response IMP18606301
    GO:0002548monocyte chemotaxis NAS15248232
    GO:0007165signal transduction TAS9367155
    GO:0007267cell-cell signaling TAS9367155

    Find genes that share ontologies with TNFRSF11A           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
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    Browse Tocris compounds for TNFRSF11A (TNR11)

    1 IUPHAR Ligand for TNFRSF11A (receptor activator of NF-kappa B)    About this table
    LigandTypeActionAffinityPubmed IDs
    RANK ligand
    NoneNone--

    Selected Novoseek inferred chemical compound relationships for TNFRSF11A gene (see all 20)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    denosumab 89.4 2 20425591 (1), 19653867 (1)
    laccer 44.6 3 16538029 (2), 11592959 (1)
    1,25 dihydroxy vitamin d3 35.8 4 16519799 (1)
    estrogen 32.3 2 17115268 (1), 15688188 (1)
    raloxifene 29.7 1 18560259 (1)
    pge2 27.1 6 17306833 (1), 16831922 (1), 18033994 (1), 15618359 (1)
    gp 130 23.6 1 17138054 (1)
    calcitriol 20 4 12810169 (2), 12002510 (1), 18555623 (1)
    hydroxyapatite 15.2 3 15020113 (1), 19139991 (1)
    polyethylene 14.1 7 15260421 (4), 16806459 (3)



    Find genes that share compounds with TNFRSF11A           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for TNFRSF11A gene (5 alternative transcripts): 
    NM_001270949.1  NM_001270950.1  NM_001270951.1  NM_001278268.1  NM_003839.3  

    Unigene Clusters for TNFRSF11A:

    Tumor necrosis factor receptor superfamily, member 11a, NFKB activator
    Hs.204044  [show with all ESTs], Hs.621477
    Unigene Representative Sequences: NM_003839, AF086403
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000269485(uc002lin.3 uc010dpv.3) ENST00000586569 ENST00000592013
    ENST00000587697
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    Additional mRNA sequence: AF086403.1 

    2 DOTS entries:

    DT.100684514  DT.70100422 

    Selected AceView cDNA sequences (see all 32):

    CK904786 BM069857 AI888982 NM_003839 AK125052 AF086403 BQ954369 CB121771 
    AW026379 BE548822 BQ130846 AI086138 BQ575158 BM069608 CK905880 CK905881 
    BQ130591 AI888991 AF018253 BQ027399 AI732573 BE896495 BF355528 AI733866 

    GeneLoc Exon Structure

    2 Alternative Splicing Database (ASD) splice patterns (SP) for TNFRSF11A    About this scheme

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


    ECgene alternative splicing isoforms for TNFRSF11A

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

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    TNFRSF11A expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GGGCTCCTGG
    TNFRSF11A Expression
    About this image


    TNFRSF11A expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 4) fully expand
     
     Brain (Nervous System)    fully expand to see all 7 entries
             Endothelial Cells Blood Brain Barrier
             Cerebral Cortex
     
     Ovary (Reproductive System)
             Oviduct
     
     Testis (Reproductive System)
             Leydig Cells Testis Interstitium
     
     Endothelium (Cardiovascular System)    fully expand to see all 3 entries
             Endothelial Cells Blood Brain Barrier
    TNFRSF11A Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    TNFRSF11A Protein Expression

    SOURCE GeneReport for Unigene clusters: Hs.204044 Hs.621477

    UniProtKB/Swiss-Prot: TNR11_HUMAN, Q9Y6Q6
    Tissue specificity: Ubiquitous expression with high levels in skeletal muscle, thymus, liver, colon, small
    intestine and adrenal gland

        Pathway & Disease-focused RT2 Profiler PCR Arrays including TNFRSF11A: 
              TNF Ligands & Receptors in human mouse rat
              Cancer Drug Resistance in human mouse rat

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of chordates.

    Orthologs for TNFRSF11A gene from Selected species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Tnfrsf11a1 , 5 tumor necrosis factor receptor superfamily, member more1, 5 77.57(n)1
    69.38(a)1
      1 (49.70 cM)5
    219341  NM_009399.31  NP_033425.31 
     1057807235 
    chicken
    (Gallus gallus)
    Aves TNFRSF11A1 tumor necrosis factor receptor superfamily, member more 58.13(n)
    48.63(a)
      769909  XM_004939687.1  XP_004939744.1 
    lizard
    (Anolis carolinensis)
    Reptilia TNFRSF11A6
    tumor necrosis factor receptor superfamily, member...
    41(a)
    1 ↔ 1
    GL343265.1(448168-487389)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia tnfrsf11a1 tumor necrosis factor receptor superfamily, member more 58.79(n)
    52.73(a)
      100101765  NM_001100262.1  NP_001093732.1 
    zebrafish
    (Danio rerio)
    Actinopterygii CT573348.16
    Uncharacterized protein
    24(a)
    1 ↔ 1
    24(19036933-19059565) ENSDARG00000087804


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for TNFRSF11A gene
    TNFRSF212  TNFRSF6B2  LTBR2  TNFRSF11B2  TNFRSF142  CD402  TNFRSF1B2  
    1 SIMAP similar gene for TNFRSF11A using alignment to 5 protein entries:     TNR11_HUMAN (see all proteins):
    CD40

    Find genes that share paralogs with TNFRSF11A           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for TNFRSF11A (see all 1360)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 18 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0467884
    Osteopetrosis, autosomal recessive 7 (OPTB7)4--see VAR_0467882 G R mis40--------
    VAR_0467924
    Osteopetrosis, autosomal recessive 7 (OPTB7)4--see VAR_0467922 C R mis40--------
    VAR_0467894
    Osteopetrosis, autosomal recessive 7 (OPTB7)4--see VAR_0467892 R C mis40--------
    VAR_0467914
    Osteopetrosis, autosomal recessive 7 (OPTB7)4--see VAR_0467912 R G mis40--------
    VAR_0467934
    Osteopetrosis, autosomal recessive 7 (OPTB7)4--see VAR_0467932 A S mis40--------
    rs1411599711,2
    C--56740466(+) AAAAT-/AACAAA 4 -- int10--------
    rs572194851,2
    C--56740641(+) AAAAA-/A/GGAACC 4 -- int10--------
    rs677213711,2
    C--56745941(+) TTTTT-/T/TT  
            
    GAGAC
    4 -- int12NA 4
    rs783048071,2
    C,F--59845013(+) AACAGT/CTACCT 4 -- us2k12Minor allele frequency- C:0.02WA NA 238
    rs72294451,2
    C,F,A--59845070(+) tcccaC/Tgtgtt 4 -- us2k1 tfbs311Minor allele frequency- T:0.23NA WA CSA EA 374

    HapMap Linkage Disequilibrium report for TNFRSF11A (59992520 - 60058516 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for TNFRSF11A: --
    Human Gene Mutation Database (HGMD): TNFRSF11A
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing TNFRSF11A
    DNA2.0 Custom Variant and Variant Library Synthesis for TNFRSF11A

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 603499   
    OMIM disorders: 174810  602080  612301  
    UniProtKB/Swiss-Prot: TNR11_HUMAN, Q9Y6Q6
  • 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. 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. 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. Note=The disease is caused by mutations affecting the gene represented
    in this entry

  • 13 diseases for TNFRSF11A:    
    About MalaCards
    osteopetrosis autosomal recessive 7    periostitis    polyostotic osteolytic dysplasia, hereditary expansile    tnfrsf11a- related autosomal recessive osteopetrosis
    chronic recurrent multifocal osteomyelitis    paget disease, juvenile    hemophilic arthropathy    paget's disease of bone
    osteomyelitis    humoral hypercalcemia of malignancy    osteopetrosis    osteosarcoma
    osteoporosis

    1 disease from the University of Copenhagen DISEASES database for TNFRSF11A:
    Paget's disease of bone

    Find genes that share disorders with TNFRSF11A           About GenesLikeMe

    Selected Novoseek inferred disease relationships for TNFRSF11A gene (see all 40)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    familial expansile osteolysis 93.6 18 17284635 (2), 11555792 (1), 11771666 (1), 11973628 (1) (see all 12)
    paget disease, juvenile 82.3 5 17284635 (2), 17174136 (1)
    bone destruction 82.3 6 11481364 (2), 18979165 (1), 16322249 (1), 18685421 (1) (see all 5)
    osteolysis 81.6 14 15615495 (2), 11521937 (1), 16806459 (1), 14607494 (1) (see all 11)
    bone diseases 81.3 20 20128323 (2), 14510950 (1), 18632461 (1), 11486316 (1) (see all 15)
    osteolytic 79.5 7 15363860 (1), 15819451 (1), 16322249 (1), 16995812 (1) (see all 7)
    bone loss 75.1 20 16806459 (2), 18929692 (2), 12379618 (2), 14690142 (1) (see all 16)
    osteoporosis 72.3 15 19076348 (1), 14523602 (1), 16105967 (1), 16908001 (1) (see all 10)
    osteoporosis postmenopausal 68.8 4 18560259 (1), 16373338 (1), 11121682 (1)
    osteopetrosis 67.6 6 18606301 (2)

    Genetic Association Database (GAD): TNFRSF11A
    Human Genome Epidemiology (HuGE) Navigator: TNFRSF11A (34 documents)

    Export disorders for TNFRSF11A gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for TNFRSF11A gene, integrated from 10 sources (see all 429):
    (articles sorted by number of sources associating them with TNFRSF11A)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Mutations in TNFRSF11A, affecting the signal peptide of RANK, cause familial expansile osteolysis. (PubMed id 10615125)1, 2, 3, 9 Hughes A.E....Anderson D.M. (Nat. Genet. 2000)
    2. A homologue of the TNF receptor and its ligand enhance T-cell growth and dendritic-cell function. (PubMed id 9367155)1, 2, 3, 9 Anderson D.M....Galibert L. (Nature 1997)
    3. Gene-gene interactions in RANK/RANKL/OPG system influence bone mineral density in postmenopausal women. (PubMed id 19896533)1, 4, 9 Zupan J....Marc J. (J. Steroid Biochem. Mol. Biol. 2010)
    4. Human osteoclast-poor osteopetrosis with hypogammaglobulinemia due to TNFRSF11A (RANK) mutations. (PubMed id 18606301)1, 2, 9 Guerrini M.M....Frattini A. (Am. J. Hum. Genet. 2008)
    5. Identification of novel RANK polymorphisms and their putative association with low BMD among postmenopausal women. (PubMed id 17115234)1, 4, 9 Koh J.M....Shin H.D. (Osteoporos Int 2007)
    6. 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. (PubMed id 16960694)1, 4, 9 Zhao L.J....Deng H.W. (Hum. Genet. 2006)
    7. Genetic variations in genes encoding RANK, RANKL, and OPG in rheumatoid arthritis: a case-control study. (PubMed id 20231205)1, 4, 9 Assmann G....Wieczorek S. (J. Rheumatol. 2010)
    8. The TRAF family of signal transducers mediates NF-kappaB activation by the TRANCE receptor. (PubMed id 9774460)1, 2, 9 Wong B.R....Choi Y. (J. Biol. Chem. 1998)
    9. Variations in RANK gene are associated with adult height in Caucasians. (PubMed id 17546619)1, 4, 9 Chen Y....Deng H.W. (Am. J. Hum. Biol. 2007)
    10. Variation in genes involved in the RANKL/RANK/OPG bone remodeling pathway are associated with bone mineral density at different skeletal sites in men. (PubMed id 16249885)1, 4, 9 Hsu Y.H....Xu X. (Hum. Genet. 2006)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 8792 HGNC: 11908 AceView: TNFRSF11A Ensembl:ENSG00000141655 euGenes: HUgn8792
    ECgene: TNFRSF11A Kegg: 8792 H-InvDB: TNFRSF11A

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for TNFRSF11A Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for TNFRSF11A Genetics and Cytogenetics in Oncology and Haematology
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=TNFRSF11A[genesymbol]

    (Patent information from GeneIP,
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    IP news from LifeMap Sciences, Inc.)
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    Patent Information for TNFRSF11A gene:
    Search GeneIP for patents involving TNFRSF11A

    GeneCards and IP:
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