• Gene id: 8792

Gene Summary

• Gene Symbol: TNFRSF11A   Gene   UCSC   Ensembl
• Aliases: CD265, FEO, LOH18CR1, ODFR, OFE, OPTB7, OSTS, PDB2, RANK, TRANCER
• Gene name: TNF receptor superfamily member 11a
• Alternate names: tumor necrosis factor receptor superfamily member 11A, 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 necros,
• Gene location: 18q21.33 (62325286: 62391287)     Exons: 12     NC_000018.10
• Gene summary(Entrez): 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 i
• OMIM: 613420

Protein Summary

• Protein general information: Q9Y6Q6  
  • Name: Tumor necrosis factor receptor superfamily member 11A (Osteoclast differentiation factor receptor) (ODFR) (Receptor activator of NF KB) (CD antigen CD265)
  • Length: 616  
  • Mass: 66034
  • Tissue specificity: Ubiquitous expression with high levels in skeletal muscle, thymus, liver, colon, small intestine and adrenal gland.
• Sequence:

  MAPRARRRRPLFALLLLCALLARLQVALQIAPPCTSEKHYEHLGRCCNKCEPGKYMSSKCTTTSDSVCLPCGPDE
  YLDSWNEEDKCLLHKVCDTGKALVAVVAGNSTTPRRCACTAGYHWSQDCECCRRNTECAPGLGAQHPLQLNKDTV
  CKPCLAGYFSDAFSSTDKCRPWTNCTFLGKRVEHHGTEKSDAVCSSSLPARKPPNEPHVYLPGLIILLLFASVAL
  VAAIIFGVCYRKKGKALTANLWHWINEACGRLSGDKESSGDSCVSTHTANFGQQGACEGVLLLTLEEKTFPEDMC
  YPDQGGVCQGTCVGGGPYAQGEDARMLSLVSKTEIEEDSFRQMPTEDEYMDRPSQPTDQLLFLTEPGSKSTPPFS
  EPLEVGENDSLSQCFTGTQSTVGSESCNCTEPLCRTDWTPMSSENYLQKEVDSGHCPHWAASPSPNWADVCTGCR
  NPPGEDCEPLVGSPKRGPLPQCAYGMGLPPEEEASRTEARDQPEDGADGRLPSSARAGAGSGSSPGGQSPASGNV
  TGNSNSTFISSGQVMNFKGDIIVVYVSQTSQEGAAAAAEPMGRPVQEETLARRDSFAGNGPRFPDPCGGPEGLRE
  PEKASRPVQEQGGAKA

• Structural information:
  • Interpro: IPR041648  IPR001368  IPR022323  IPR022361  IPR034040  
  • Prosite: PS00652 PS50050
  • CDD: cd13411
  • PDB: 1LB5
  • PDBsum: 1LB5
  • STRING: ENSP00000465500
• Other Databases: GeneCards:  TNFRSF11A  Malacards:  TNFRSF11A

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0001503	ossification	IBA	biological process
GO:0005031	tumor necrosis factor-activated receptor activity	IBA	molecular function
GO:0019955	cytokine binding	IBA	molecular function
GO:0045780	positive regulation of bone resorption	IBA	biological process
GO:0051092	positive regulation of NF-kappaB transcription factor activity	IBA	biological process
GO:0070555	response to interleukin-1	IBA	biological process
GO:0071847	TNFSF11-mediated signaling pathway	IBA	biological process
GO:0072674	multinuclear osteoclast differentiation	IBA	biological process
GO:0009897	external side of plasma membrane	IBA	cellular component
GO:0048535	lymph node development	IBA	biological process
GO:0060749	mammary gland alveolus development	IBA	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0038023	signaling receptor activity	TAS	molecular function
GO:0007165	signal transduction	TAS	biological process
GO:0007267	cell-cell signaling	TAS	biological process
GO:0008284	positive regulation of cell population proliferation	TAS	biological process
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0033209	tumor necrosis factor-mediated signaling pathway	TAS	biological process
GO:0033209	tumor necrosis factor-mediated signaling pathway	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0072674	multinuclear osteoclast differentiation	IEA	biological process
GO:0071812	positive regulation of fever generation by positive regulation of prostaglandin secretion	IEA	biological process
GO:0070555	response to interleukin-1	IEA	biological process
GO:0045780	positive regulation of bone resorption	IEA	biological process
GO:0034612	response to tumor necrosis factor	IEA	biological process
GO:0033209	tumor necrosis factor-mediated signaling pathway	IEA	biological process
GO:0005031	tumor necrosis factor-activated receptor activity	IEA	molecular function
GO:0001503	ossification	IEA	biological process
GO:0060749	mammary gland alveolus development	IEA	biological process
GO:0060086	circadian temperature homeostasis	IEA	biological process
GO:0051091	positive regulation of DNA-binding transcription factor activity	IEA	biological process
GO:0048535	lymph node development	IEA	biological process
GO:0032496	response to lipopolysaccharide	IEA	biological process
GO:0009986	cell surface	IEA	cellular component
GO:0007275	multicellular organism development	IEA	biological process
GO:0009314	response to radiation	IEA	biological process
GO:0004888	transmembrane signaling receptor activity	IDA	molecular function
GO:0005031	tumor necrosis factor-activated receptor activity	ISS	molecular function
GO:0019955	cytokine binding	IPI	molecular function
GO:0051092	positive regulation of NF-kappaB transcription factor activity	IDA	biological process
GO:0009897	external side of plasma membrane	IDA	cellular component
GO:0051091	positive regulation of DNA-binding transcription factor activity	IDA	biological process
GO:0033209	tumor necrosis factor-mediated signaling pathway	ISS	biological process
GO:0034097	response to cytokine	IMP	biological process
GO:0034612	response to tumor necrosis factor	ISS	biological process
GO:0051092	positive regulation of NF-kappaB transcription factor activity	IMP	biological process
GO:0070555	response to interleukin-1	ISS	biological process
GO:0071812	positive regulation of fever generation by positive regulation of prostaglandin secretion	ISS	biological process
GO:0071847	TNFSF11-mediated signaling pathway	IMP	biological process
GO:0071848	positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling	IMP	biological process
GO:0002250	adaptive immune response	IMP	biological process
GO:0002548	monocyte chemotaxis	NAS	biological process
GO:0030316	osteoclast differentiation	IMP	biological process
GO:0032496	response to lipopolysaccharide	ISS	biological process
GO:0043507	positive regulation of JUN kinase activity	IMP	biological process
GO:0051091	positive regulation of DNA-binding transcription factor activity	ISS	biological process
GO:0060086	circadian temperature homeostasis	ISS	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function

KEGG pathways

Pathway id	Pathway name
hsa04060	Cytokine-cytokine receptor interaction
hsa04380	Osteoclast differentiation
hsa04064	NF-kappa B signaling pathway
hsa05323	Rheumatoid arthritis
hsa04917	Prolactin signaling pathway

Diseases

Associated diseases	References
Osteopetrosis	KEGG:H00436
Paget disease of bone	KEGG:H00437
Familial expansile osteolysis	KEGG:H02042
Osteopetrosis	KEGG:H00436
Paget disease of bone	KEGG:H00437
Familial expansile osteolysis	KEGG:H02042
Bone disease	PMID:10615125
Osteoporosis	PMID:17002564
Paget's disease of bone	PMID:10615125
Aberrant CpGs in Low Motility Sperm	MIK: 21674046

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881