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    TNFRSF11A tumor necrosis factor receptor superfamily member 11a [ Homo sapiens (human) ]

    Gene ID: 8792, updated on 3-Apr-2016
    Official Symbol
    TNFRSF11Aprovided by HGNC
    Official Full Name
    tumor necrosis factor receptor superfamily member 11aprovided by HGNC
    Primary source
    HGNC:HGNC:11908
    See related
    Ensembl:ENSG00000141655 HPRD:04609; MIM:603499; Vega:OTTHUMG00000132779
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    FEO; OFE; ODFR; OSTS; PDB2; RANK; CD265; OPTB7; TRANCER; LOH18CR1
    Summary
    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]
    Orthologs
    Location:
    18q22.1
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    107 current GRCh38.p2 (GCF_000001405.28) 18 NC_000018.10 (62325287..62387710)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 18 NC_000018.9 (59992520..60054943)

    Chromosome 18 - NC_000018.10Genomic Context describing neighboring genes Neighboring gene phosphatidylinositol glycan anchor biosynthesis class N Neighboring gene KIAA1468 Neighboring gene ribosomal protein L17 pseudogene 44 Neighboring gene actin, beta pseudogene 9

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Associated conditions

    Description Tests
    Familial expansile osteolysis
    MedGen: C0432292 OMIM: 174810 GeneReviews: Not available
    Compare labs
    Osteitis deformans
    MedGen: C0029401 OMIM: 602080 GeneReviews: Not available
    Compare labs
    Osteopetrosis autosomal recessive 7
    MedGen: C2676766 OMIM: 612301 GeneReviews: Not available
    Compare labs

    NHGRI GWAS Catalog

    Description
    Discovery and fine mapping of serum protein loci through transethnic meta-analysis.
    NHGRI GWA Catalog
    Genome-wide association identifies three new susceptibility loci for Paget's disease of bone.
    NHGRI GWA Catalog
    Genome-wide association study identifies variants at CSF1, OPTN and TNFRSF11A as genetic risk factors for Paget's disease of bone.
    NHGRI GWA Catalog
    Genome-wide association study of patient-rated and clinician-rated global impression of severity during antipsychotic treatment.
    NHGRI GWA Catalog
    Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture.
    NHGRI GWA Catalog
    Multiple genetic loci for bone mineral density and fractures.
    NHGRI GWA Catalog
    Phenotypic dissection of bone mineral density reveals skeletal site specificity and facilitates the identification of novel loci in the genetic regulation of bone mass attainment.
    NHGRI GWA Catalog
    Twenty bone-mineral-density loci identified by large-scale meta-analysis of genome-wide association studies.
    NHGRI GWA Catalog
    • Cytokine Signaling in Immune system, organism-specific biosystem (from REACTOME)
      Cytokine Signaling in Immune system, organism-specific biosystemCytokines are small proteins that regulate and mediate immunity, inflammation, and hematopoiesis. They are secreted in response to immune stimuli, and usually act briefly, locally, at very low concen...
    • Cytokine-cytokine receptor interaction, organism-specific biosystem (from KEGG)
      Cytokine-cytokine receptor interaction, organism-specific biosystemCytokines are soluble extracellular proteins or glycoproteins that are crucial intercellular regulators and mobilizers of cells engaged in innate as well as adaptive inflammatory host defenses, cell ...
    • Cytokine-cytokine receptor interaction, conserved biosystem (from KEGG)
      Cytokine-cytokine receptor interaction, conserved biosystemCytokines are soluble extracellular proteins or glycoproteins that are crucial intercellular regulators and mobilizers of cells engaged in innate as well as adaptive inflammatory host defenses, cell ...
    • Immune System, organism-specific biosystem (from REACTOME)
      Immune System, organism-specific biosystemHumans are exposed to millions of potential pathogens daily, through contact, ingestion, and inhalation. Our ability to avoid infection depends on the adaptive immune system and during the first crit...
    • NF-kappa B signaling pathway, organism-specific biosystem (from KEGG)
      NF-kappa B signaling pathway, organism-specific biosystemNuclear factor-kappa B (NF-kappa B) is the generic name of a family of transcription factors that function as dimers and regulate genes involved in immunity, inflammation and cell survival. There are...
    • Osteoclast Signaling, organism-specific biosystem (from WikiPathways)
      Osteoclast Signaling, organism-specific biosystem
      Osteoclast Signaling
    • Osteoclast differentiation, organism-specific biosystem (from KEGG)
      Osteoclast differentiation, organism-specific biosystemThe osteoclasts, multinucleared cells originating from the hematopoietic monocyte-macrophage lineage, are responsible for bone resorption. Osteoclastogenesis is mainly regulated by signaling pathways...
    • Osteoclast differentiation, conserved biosystem (from KEGG)
      Osteoclast differentiation, conserved biosystemThe osteoclasts, multinucleared cells originating from the hematopoietic monocyte-macrophage lineage, are responsible for bone resorption. Osteoclastogenesis is mainly regulated by signaling pathways...
    • Prolactin signaling pathway, organism-specific biosystem (from KEGG)
      Prolactin signaling pathway, organism-specific biosystemProlactin (PRL) is a polypeptide hormone known to be involved in a wide range of biological functions including osmoregulation, lactation, reproduction, growth and development, endocrinology and meta...
    • Prolactin signaling pathway, conserved biosystem (from KEGG)
      Prolactin signaling pathway, conserved biosystemProlactin (PRL) is a polypeptide hormone known to be involved in a wide range of biological functions including osmoregulation, lactation, reproduction, growth and development, endocrinology and meta...
    • RANKL/RANK Signaling Pathway, organism-specific biosystem (from WikiPathways)
      RANKL/RANK Signaling Pathway, organism-specific biosystemRANKL (Receptor activator of nuclear factor-kappa B ligand), RANK (Receptor activator of nuclear factor-kappa B) and the natural decoy receptor of RANKL, OPG (Osteoprotegerin) are three important mol...
    • Rheumatoid arthritis, organism-specific biosystem (from KEGG)
      Rheumatoid arthritis, organism-specific biosystemRheumatoid arthritis (RA) is a chronic autoimmune joint disease where persistent inflammation affects bone remodeling leading to progressive bone destruction. In RA, abnormal activation of the immune...
    • Rheumatoid arthritis, conserved biosystem (from KEGG)
      Rheumatoid arthritis, conserved biosystemRheumatoid arthritis (RA) is a chronic autoimmune joint disease where persistent inflammation affects bone remodeling leading to progressive bone destruction. In RA, abnormal activation of the immune...
    • TNF receptor superfamily (TNFSF) members mediating non-canonical NF-kB pathway, organism-specific biosystem (from REACTOME)
      TNF receptor superfamily (TNFSF) members mediating non-canonical NF-kB pathway, organism-specific biosystemActivation of NF-kB is fundamental to signal transduction by members of the TNFRSF. Expression of NF-kB target genes is essential for mounting innate immune responses to infectious microorganisms but...
    • TNF-alpha/NF-kB Signaling Pathway, organism-specific biosystem (from WikiPathways)
      TNF-alpha/NF-kB Signaling Pathway, organism-specific biosystem"The Tumor Necrosis Factor alpha is a proinflammatory cytokine belonging to the TNF superfamily. It signals through 2 separate receptors - TNFRSF1A and TNFRSF1B, both members of the TNF receptor supe...
    • TNFR2 non-canonical NF-kB pathway, organism-specific biosystem (from REACTOME)
      TNFR2 non-canonical NF-kB pathway, organism-specific biosystemTumor necrosis factor-alpha (TNFA) exerts a wide range of biological effects through TNF receptor 1 (TNFR1) and TNF receptor 2 (TNFR2). Under normal physiological conditions TNFR2 exhibits more restr...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    cytokine binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    receptor activity TAS
    Traceable Author Statement
    more info
    PubMed 
    transmembrane signaling receptor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    tumor necrosis factor-activated receptor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    tumor necrosis factor-activated receptor activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    Process Evidence Code Pubs
    TNFSF11-mediated signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    adaptive immune response IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    apoptotic signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    cell-cell signaling TAS
    Traceable Author Statement
    more info
    PubMed 
    circadian temperature homeostasis ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    inflammatory response IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    lymph node development IEA
    Inferred from Electronic Annotation
    more info
     
    mammary gland alveolus development IEA
    Inferred from Electronic Annotation
    more info
     
    monocyte chemotaxis NAS
    Non-traceable Author Statement
    more info
    PubMed 
    ossification IEA
    Inferred from Electronic Annotation
    more info
     
    osteoclast differentiation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of JUN kinase activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of NF-kappaB transcription factor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of NF-kappaB transcription factor activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of cell proliferation TAS
    Traceable Author Statement
    more info
    PubMed 
    positive regulation of fever generation by positive regulation of prostaglandin secretion ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    positive regulation of sequence-specific DNA binding transcription factor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of sequence-specific DNA binding transcription factor activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    regulation of apoptotic process IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    response to cytokine IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    response to interleukin-1 ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    response to lipopolysaccharide IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    response to lipopolysaccharide ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    response to radiation IEA
    Inferred from Electronic Annotation
    more info
     
    response to tumor necrosis factor ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    signal transduction TAS
    Traceable Author Statement
    more info
    PubMed 
    tumor necrosis factor-mediated signaling pathway ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    tumor necrosis factor-mediated signaling pathway TAS
    Traceable Author Statement
    more info
     
    Component Evidence Code Pubs
    external side of plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    integral component of plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    plasma membrane TAS
    Traceable Author Statement
    more info
     
    Preferred Names
    tumor necrosis factor receptor superfamily member 11A
    Names
    Paget disease of bone 2
    loss of heterozygosity, 18, chromosomal region 1
    osteoclast differentiation factor receptor
    receptor activator of NF-KB
    receptor activator of nuclear factor-kappa B
    tumor necrosis factor receptor superfamily member 11a, NFKB activator
    tumor necrosis factor receptor superfamily, member 11a, NFKB activator

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_008098.1 RefSeqGene

      Range
      4973..67396
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_194

    mRNA and Protein(s)

    1. NM_001270949.1NP_001257878.1  tumor necrosis factor receptor superfamily member 11A isoform 2 precursor

      See identical proteins and their annotated locations for NP_001257878.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2, also known as delta9) lacks an exon in the 3' coding region, which results in a frameshift, compared to variant 1. It encodes isoform 2, which has a shorter and distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      AB209762, AC100843, DA403964, HE647782
      Consensus CDS
      CCDS74227.1
      UniProtKB/Swiss-Prot
      Q9Y6Q6
      Related
      ENSP00000479567, ENST00000616710
      Conserved Domains (2) summary
      pfam05454
      Location:173240
      DAG1; Dystroglycan (Dystrophin-associated glycoprotein 1)
      cd13411
      Location:33195
      TNFRSF11A; Tumor necrosis factor receptor superfamily member 11A (TNFRSF11A), also known as receptor activator of nuclear factor-kappaB (RANK)
    2. NM_001270950.1NP_001257879.1  tumor necrosis factor receptor superfamily member 11A isoform 3 precursor

      See identical proteins and their annotated locations for NP_001257879.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3, also known as delta8,9) lacks two exons in the 3' coding region, compared to variant 1. This results in a shorter protein (isoform 3), compared to isoform 1.
      Source sequence(s)
      AB209762, AC100843, DA403964, HE649916
      Consensus CDS
      CCDS74228.1
      UniProtKB/Swiss-Prot
      Q9Y6Q6
      Related
      ENSP00000482466, ENST00000617039
      Conserved Domains (2) summary
      pfam05454
      Location:173258
      DAG1; Dystroglycan (Dystrophin-associated glycoprotein 1)
      cd13411
      Location:33195
      TNFRSF11A; Tumor necrosis factor receptor superfamily member 11A (TNFRSF11A), also known as receptor activator of nuclear factor-kappaB (RANK)
    3. NM_001270951.1NP_001257880.1  tumor necrosis factor receptor superfamily member 11A isoform 4 precursor

      See identical proteins and their annotated locations for NP_001257880.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4, also known as delta7,8,9) lacks three exons in the 3' coding region, compared to variant 1. This results in a shorter protein (isoform 4), compared to isoform 1.
      Source sequence(s)
      AB209762, AC100843, DA403964
      Consensus CDS
      CCDS59324.1
      UniProtKB/Swiss-Prot
      Q9Y6Q6
      Related
      ENSP00000269485, OTTHUMP00000263500, ENST00000269485, OTTHUMT00000450047
      Conserved Domains (1) summary
      cd13411
      Location:33195
      TNFRSF11A; Tumor necrosis factor receptor superfamily member 11A (TNFRSF11A), also known as receptor activator of nuclear factor-kappaB (RANK)
    4. NM_001278268.1NP_001265197.1  tumor necrosis factor receptor superfamily member 11A isoform 5 precursor

      See identical proteins and their annotated locations for NP_001265197.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5, also called RANK-e5a) uses an alternate in-frame splice junction at the 5' end of an exon compared to variant 1. The resulting isoform (5) has the same N- and C-termini but is shorter compared to isoform 1.
      Source sequence(s)
      AB209762, AC100843, DA403964, HF584702
      UniProtKB/Swiss-Prot
      Q9Y6Q6
      Conserved Domains (1) summary
      cd13411
      Location:33181
      TNFRSF11A; Tumor necrosis factor receptor superfamily member 11A (TNFRSF11A), also known as receptor activator of nuclear factor-kappaB (RANK)
    5. NM_003839.3NP_003830.1  tumor necrosis factor receptor superfamily member 11A isoform 1 precursor

      See identical proteins and their annotated locations for NP_003830.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AB209762, AC100843, AF018253, DA403964
      Consensus CDS
      CCDS11980.1
      UniProtKB/Swiss-Prot
      Q9Y6Q6
      Related
      ENSP00000465500, OTTHUMP00000163667, ENST00000586569, OTTHUMT00000256186
      Conserved Domains (1) summary
      cd13411
      Location:33195
      TNFRSF11A; Tumor necrosis factor receptor superfamily member 11A (TNFRSF11A), also known as receptor activator of nuclear factor-kappaB (RANK)

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107 details...

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p2 Primary Assembly

    Genomic

    1. NC_000018.10 Reference GRCh38.p2 Primary Assembly

      Range
      62325287..62387710
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011526245.1XP_011524547.1  

      Conserved Domains (1) summary
      cl22855
      Location:109159
      TNFRSF; Tumor necrosis factor receptor superfamily (TNFRSF)
    2. XM_011526244.1XP_011524546.1  

      Conserved Domains (1) summary
      cd13411
      Location:33200
      TNFRSF11A; Tumor necrosis factor receptor superfamily member 11A (TNFRSF11A), also known as receptor activator of nuclear factor-kappaB (RANK)

    RNA

    1. XR_935263.1 RNA Sequence

    Alternate CHM1_1.1

    Genomic

    1. NC_018929.2 Alternate CHM1_1.1

      Range
      59988087..60050490
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)