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    TNFRSF11A TNF receptor superfamily member 11a [ Homo sapiens (human) ]

    Gene ID: 8792, updated on 19-Jul-2021

    Summary

    Official Symbol
    TNFRSF11Aprovided by HGNC
    Official Full Name
    TNF receptor superfamily member 11aprovided by HGNC
    Primary source
    HGNC:HGNC:11908
    See related
    Ensembl:ENSG00000141655 MIM:603499
    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; TRANCE-R
    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]
    Expression
    Biased expression in duodenum (RPKM 14.3), colon (RPKM 11.6) and 10 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See TNFRSF11A in Genome Data Viewer
    Location:
    18q21.33
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 18 NC_000018.10 (62325310..62391288)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 18 NC_000018.9 (59992543..60058521)

    Chromosome 18 - NC_000018.10Genomic Context describing neighboring genes Neighboring gene phosphatidylinositol glycan anchor biosynthesis class N Neighboring gene RAB11 binding and LisH domain, coiled-coil and HEAT repeat containing Neighboring gene ribosomal protein L17 pseudogene 44 Neighboring gene ACTB pseudogene 9

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Autosomal recessive osteopetrosis 7
    MedGen: C2676766 OMIM: 612301 GeneReviews: Not available
    Compare labs
    Discovery and fine mapping of serum protein loci through transethnic meta-analysis.
    GeneReviews: Not available
    Familial expansile osteolysis
    MedGen: C0432292 OMIM: 174810 GeneReviews: Not available
    Compare labs
    Genome-wide association identifies three new susceptibility loci for Paget's disease of bone.
    GeneReviews: Not available
    Genome-wide association study identifies variants at CSF1, OPTN and TNFRSF11A as genetic risk factors for Paget's disease of bone.
    GeneReviews: Not available
    Genome-wide association study of patient-rated and clinician-rated global impression of severity during antipsychotic treatment.
    GeneReviews: Not available
    Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture.
    GeneReviews: Not available
    Multiple genetic loci for bone mineral density and fractures.
    GeneReviews: Not available
    Paget disease of bone 2, early-onset
    MedGen: C4085251 OMIM: 602080 GeneReviews: Not available
    Compare labs
    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.
    GeneReviews: Not available
    Twenty bone-mineral-density loci identified by large-scale meta-analysis of genome-wide association studies.
    GeneReviews: Not available

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables cytokine binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables cytokine binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables signaling receptor activity TAS
    Traceable Author Statement
    more info
    PubMed 
    enables transmembrane signaling receptor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables tumor necrosis factor-activated receptor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables tumor necrosis factor-activated receptor activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in TNFSF11-mediated signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in TNFSF11-mediated signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in adaptive immune response IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in cell-cell signaling TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in circadian temperature homeostasis ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    involved_in lymph node development IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in mammary gland alveolus development IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in monocyte chemotaxis NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in multinuclear osteoclast differentiation IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in ossification IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in osteoclast differentiation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of DNA-binding transcription factor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of DNA-binding transcription factor activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    involved_in positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of JUN kinase activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of NF-kappaB transcription factor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in positive regulation of NF-kappaB transcription factor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of NF-kappaB transcription factor activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of bone resorption IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in positive regulation of cell population proliferation TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in positive regulation of fever generation by positive regulation of prostaglandin secretion ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    involved_in response to cytokine IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in response to interleukin-1 IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in response to interleukin-1 ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    involved_in response to lipopolysaccharide ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    involved_in response to radiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to tumor necrosis factor ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    involved_in signal transduction TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in tumor necrosis factor-mediated signaling pathway ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
     
    is_active_in external side of plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in external side of plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in integral component of membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
     
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
     

    General protein information

    Preferred Names
    tumor necrosis factor receptor superfamily member 11A
    Names
    Paget disease of bone 2
    TRANCE receptor
    familial expansile osteolysis
    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

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_001270949.2NP_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
      ENSP00000479567.1, ENST00000616710.4
      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)
    2. NM_001270950.2NP_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
      ENSP00000482466.1, ENST00000617039.4
      Conserved Domains (2) summary
      cd13411
      Location:33195
      TNFRSF11A; Tumor necrosis factor receptor superfamily member 11A (TNFRSF11A), also known as receptor activator of nuclear factor-kappaB (RANK)
      pfam05454
      Location:173258
      DAG1; Dystroglycan (Dystrophin-associated glycoprotein 1)
    3. NM_001270951.2NP_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
      ENSP00000269485.7, ENST00000269485.11
      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_001278268.2NP_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_003839.4NP_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
      ENSP00000465500.1, ENST00000586569.3
      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 Updated Annotation Release 109.20210514

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000018.10 Reference GRCh38.p13 Primary Assembly

      Range
      62325310..62391288
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011526245.2XP_011524547.1  tumor necrosis factor receptor superfamily member 11A isoform X2

      Conserved Domains (1) summary
      cl22855
      Location:109159
      TNFRSF; Tumor necrosis factor receptor superfamily (TNFRSF)
    2. XM_011526244.2XP_011524546.1  tumor necrosis factor receptor superfamily member 11A isoform X1

      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)
    3. XM_017026064.1XP_016881553.1  tumor necrosis factor receptor superfamily member 11A isoform X2

      Conserved Domains (1) summary
      cl22855
      Location:109159
      TNFRSF; Tumor necrosis factor receptor superfamily (TNFRSF)
    4. XM_017026065.1XP_016881554.1  tumor necrosis factor receptor superfamily member 11A isoform X3

    5. XM_017026066.1XP_016881555.1  tumor necrosis factor receptor superfamily member 11A isoform X4

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