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

Gene ID: 8792, updated on 23-Nov-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
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Genomic context

See TNFRSF11A in Genome Data Viewer
Location:
18q21.33
Exon count:
12
Annotation release Status Assembly Chr Location
109.20211119 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)

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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 109.20211119

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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