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    TNFRSF11B TNF receptor superfamily member 11b [ Homo sapiens (human) ]

    Gene ID: 4982, updated on 22-Aug-2016
    Official Symbol
    TNFRSF11Bprovided by HGNC
    Official Full Name
    TNF receptor superfamily member 11bprovided by HGNC
    Primary source
    HGNC:HGNC:11909
    See related
    Ensembl:ENSG00000164761 HPRD:04032; MIM:602643; Vega:OTTHUMG00000164969
    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
    OPG; TR1; OCIF; PDB5
    Summary
    The protein encoded by this gene is a member of the TNF-receptor superfamily. This protein is an osteoblast-secreted decoy receptor that functions as a negative regulator of bone resorption. This protein specifically binds to its ligand, osteoprotegerin ligand, both of which are key extracellular regulators of osteoclast development. Studies of the mouse counterpart also suggest that this protein and its ligand play a role in lymph-node organogenesis and vascular calcification. Alternatively spliced transcript variants of this gene have been reported, but their full length nature has not been determined. [provided by RefSeq, Jul 2008]
    Orthologs
    Location:
    8q24
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 8 NC_000008.11 (118923557..118952144, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (119935796..119964383, complement)

    Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene ribosomal protein S26 pseudogene 35 Neighboring gene uncharacterized LOC105375723 Neighboring gene collectin subfamily member 10 Neighboring gene GABA type A receptor associated protein like 2 pseudogene Neighboring gene RNA, U6 small nuclear 12, pseudogene

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Associated conditions

    Description Tests
    Hyperphosphatasemia with bone disease
    MedGen: C0268414 OMIM: 239000 GeneReviews: Not available
    Compare labs

    NHGRI GWAS Catalog

    Description
    A genome-wide meta-analysis of six type 1 diabetes cohorts identifies multiple associated loci.
    NHGRI GWA Catalog
    An integration of genome-wide association study and gene expression profiling to prioritize the discovery of novel susceptibility Loci for osteoporosis-related traits.
    NHGRI GWA Catalog
    Bone mineral density, osteoporosis, and osteoporotic fractures: a genome-wide association study.
    NHGRI GWA Catalog
    Genetic determinants of trabecular and cortical volumetric bone mineral densities and bone microstructure.
    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
    Meta-analysis of genome-wide association studies identifies two loci associated with circulating osteoprotegerin levels.
    NHGRI GWA Catalog
    Multiple genetic loci for bone mineral density and fractures.
    NHGRI GWA Catalog
    Multistage genome-wide association meta-analyses identified two new loci for bone mineral density.
    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
    • Apoptosis Modulation and Signaling, organism-specific biosystem (from WikiPathways)
      Apoptosis Modulation and Signaling, organism-specific biosystemApoptosis, or cell death program, can be activated by various mechanisms within the extrinsic and the intrinsic pathway. While activation of cell death receptors leads to the engagement of the extrin...
    • 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...
    • Monoamine Transport, organism-specific biosystem (from WikiPathways)
      Monoamine Transport, organism-specific biosystem
      Monoamine Transport
    • Osteoblast Signaling, organism-specific biosystem (from WikiPathways)
      Osteoblast Signaling, organism-specific biosystem
      Osteoblast Signaling
    • 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...
    • 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...
    • 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...
    • TNFs bind their physiological receptors, organism-specific biosystem (from REACTOME)
      TNFs bind their physiological receptors, organism-specific biosystemMembers of the tumour necrosis factor superfamily (TNFSF) and TNF receptor superfamily (TNFRSF) have crucial roles in both innate and adaptive immunity. These members are implicated in various acquir...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • MGC29565

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    cytokine activity TAS
    Traceable Author Statement
    more info
    PubMed 
    receptor activity TAS
    Traceable Author Statement
    more info
    PubMed 
    tumor necrosis factor-activated receptor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Process Evidence Code Pubs
    apoptotic signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    extracellular matrix organization IEA
    Inferred from Electronic Annotation
    more info
     
    immune response IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    inflammatory response IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    negative regulation of bone resorption IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of odontogenesis of dentin-containing tooth IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of MAPK cascade IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    regulation of apoptotic process IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    regulation of cell proliferation IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    response to arsenic-containing substance IEA
    Inferred from Electronic Annotation
    more info
     
    response to drug IEA
    Inferred from Electronic Annotation
    more info
     
    response to estrogen IEA
    Inferred from Electronic Annotation
    more info
     
    response to lipopolysaccharide IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    response to magnesium ion IEA
    Inferred from Electronic Annotation
    more info
     
    response to nutrient IEA
    Inferred from Electronic Annotation
    more info
     
    signal transduction TAS
    Traceable Author Statement
    more info
    PubMed 
    skeletal system development TAS
    Traceable Author Statement
    more info
    PubMed 
    tumor necrosis factor-mediated signaling pathway TAS
    Traceable Author Statement
    more info
     
    Component Evidence Code Pubs
    extracellular region TAS
    Traceable Author Statement
    more info
    PubMed 
    extracellular space 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
     
    proteinaceous extracellular matrix IEA
    Inferred from Electronic Annotation
    more info
     
    Preferred Names
    tumor necrosis factor receptor superfamily member 11B
    Names
    osteoclastogenesis inhibitory factor
    osteoprotegerin
    tumor necrosis factor receptor superfamily, member 11b

    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_012202.1 RefSeqGene

      Range
      5001..33588
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_002546.3NP_002537.3  tumor necrosis factor receptor superfamily member 11B precursor

      See identical proteins and their annotated locations for NP_002537.3

      Status: REVIEWED

      Source sequence(s)
      AK223155, CK903484, DA477521
      Consensus CDS
      CCDS6326.1
      UniProtKB/Swiss-Prot
      O00300
      Related
      ENSP00000297350, OTTHUMP00000228056, ENST00000297350, OTTHUMT00000381220
      Conserved Domains (5) summary
      cd00185
      Location:145186
      TNFRSF; CRD2 [structural motif]
      cd10581
      Location:6152
      TNFRSF11B; Tumor necrosis factor receptor superfamily member 11B (TNFRSF11B), also known as Osteoprotegerin (OPG)
      pfam00531
      Location:288365
      Death; Death domain
      cl14633
      Location:220278
      DD; Death Domain Superfamily of protein-protein interaction domains
      cl22855
      Location:124187
      TNFRSF; Tumor necrosis factor receptor superfamily (TNFRSF)

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000008.11 Reference GRCh38.p7 Primary Assembly

      Range
      118923557..118952144 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.1

    Genomic

    1. NC_018919.2 Alternate CHM1_1.1

      Range
      119976820..120005398 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)