Gene Gene information from NCBI Gene database.
Entrez ID 8792
Gene name TNF receptor superfamily member 11a
Gene symbol TNFRSF11A
Synonyms (NCBI Gene)
CD265FEOLOH18CR1ODFROFEOPTB7OSTSPDB2RANKTRANCE-RTRANCER
Chromosome 18
Chromosome location 18q21.33
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 i
SNPs SNP information provided by dbSNP.
14
SNP ID Visualize variation Clinical significance Consequence
rs34966542 T>G Conflicting-interpretations-of-pathogenicity Coding sequence variant, intron variant, synonymous variant
rs121908655 A>G Pathogenic Missense variant, coding sequence variant
rs121908656 T>C Pathogenic Missense variant, coding sequence variant
rs121908657 C>T Uncertain-significance, pathogenic Missense variant, synonymous variant, coding sequence variant
rs121908658 G>T Pathogenic Missense variant, intron variant, stop gained, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
153
miRTarBase ID miRNA Experiments Reference
MIRT029973 hsa-miR-26b-5p Microarray 19088304
MIRT054780 hsa-miR-503-5p Luciferase reporter assayMicroarrayNorthern blotqRT-PCRWestern blot 23821519
MIRT553480 hsa-miR-3150a-5p PAR-CLIP 21572407
MIRT553479 hsa-miR-3150b-5p PAR-CLIP 21572407
MIRT543104 hsa-miR-590-3p PAR-CLIP 21572407
Transcription factors Transcription factors information provided by TRRUST V2 database.
1
Transcription factor Regulation Reference
SPI1 Unknown 16083856
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
62
GO ID Ontology Definition Evidence Reference
GO:0001503 Process Ossification IBA
GO:0001503 Process Ossification IEA
GO:0002250 Process Adaptive immune response IMP 18606301
GO:0002376 Process Immune system process IEA
GO:0002548 Process Monocyte chemotaxis NAS 15248232
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
603499 11908 ENSG00000141655
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9Y6Q6
Protein name Tumor necrosis factor receptor superfamily member 11A (Osteoclast differentiation factor receptor) (ODFR) (Receptor activator of NF-KB) (CD antigen CD265)
Protein function Receptor for TNFSF11/RANKL/TRANCE/OPGL; essential for RANKL-mediated osteoclastogenesis (PubMed:9878548). Its interaction with EEIG1 promotes osteoclastogenesis via facilitating the transcription of NFATC1 and activation of PLCG2 (By similarity)
PDB 1LB5
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF18278 RANK_CRD_2 89 129 Receptor activator of the NF-KB cysteine-rich repeat domain 2 Domain
PF00020 TNFR_c6 154 194 TNFR/NGFR cysteine-rich region Domain
Tissue specificity TISSUE SPECIFICITY: Ubiquitous expression with high levels in skeletal muscle, thymus, liver, colon, small intestine and adrenal gland.
Sequence
MAPRARRRRPLFALLLLCALLARLQVALQIAPPCTSEKHYEHLGRCCNKCEPGKYMSSKC
TTTSDSVCLPCGPDEYLDSWNEEDKCLLHKVCDTGKALVAVVAGNSTTPRRCACTAGYHW
SQDCECCRR
NTECAPGLGAQHPLQLNKDTVCKPCLAGYFSDAFSSTDKCRPWTNCTFLGK
RVEHHGTEKSDAVC
SSSLPARKPPNEPHVYLPGLIILLLFASVALVAAIIFGVCYRKKGK
ALTANLWHWINEACGRLSGDKESSGDSCVSTHTANFGQQGACEGVLLLTLEEKTFPEDMC
YPDQGGVCQGTCVGGGPYAQGEDARMLSLVSKTEIEEDSFRQMPTEDEYMDRPSQPTDQL
LFLTEPGSKSTPPFSEPLEVGENDSLSQCFTGTQSTVGSESCNCTEPLCRTDWTPMSSEN
YLQKEVDSGHCPHWAASPSPNWADVCTGCRNPPGEDCEPLVGSPKRGPLPQCAYGMGLPP
EEEASRTEARDQPEDGADGRLPSSARAGAGSGSSPGGQSPASGNVTGNSNSTFISSGQVM
NFKGDIIVVYVSQTSQEGAAAAAEPMGRPVQEETLARRDSFAGNGPRFPDPCGGPEGLRE
PEKASRPVQEQGGAKA
Sequence length 616
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Cytokine-cytokine receptor interaction
NF-kappa B signaling pathway
Osteoclast differentiation
Prolactin signaling pathway
Rheumatoid arthritis
  TNFR2 non-canonical NF-kB pathway
TNF receptor superfamily (TNFSF) members mediating non-canonical NF-kB pathway
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
298
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Autosomal recessive osteopetrosis 7 Likely pathogenic; Pathogenic rs2145289462, rs2145309285, rs2145357936, rs121908655, rs121908656, rs121908658, rs121908659, rs2145223302, rs2145308907, rs2046440702, rs2511566983 RCV002247761
RCV002247762
RCV002247763
RCV000006681
RCV000006682
RCV000006684
RCV000006685
RCV003152983
RCV003225712
RCV003318520
RCV003313733
Familial expansile osteolysis Pathogenic; Likely pathogenic rs886037749, rs879253796 RCV000190351
RCV000006679
Paget disease of bone 2, early-onset Pathogenic rs886037749, rs1555767678, rs796051862 RCV000660386
RCV000190352
RCV000006680
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Bone Paget disease Benign; Likely benign; Conflicting classifications of pathogenicity; Uncertain significance rs146553439, rs1805033, rs7238731, rs1805034, rs8092336, rs148185533, rs886054081, rs886054088, rs886054099, rs150401931, rs552069161, rs142942284, rs35211496, rs61751992, rs886054089
View all (2 more)
RCV000372728
RCV000276795
RCV000370833
RCV000338163
RCV000344991
RCV000350950
RCV000356202
RCV000297001
RCV000357519
RCV000259433
RCV000348145
RCV000291400
RCV000269060
RCV000261260
RCV000342238
RCV000354253
RCV000326341
RCV000342996
Disorder of bone Benign; Likely benign; Uncertain significance rs1805034, rs117028614, rs35211496 RCV006268698
RCV006268738
RCV006268737
Familial cancer of breast Conflicting classifications of pathogenicity rs201402594 RCV005904495
Lung cancer Uncertain significance rs761595131 RCV005932027
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Acro Osteolysis Associate 36740137
Adenocarcinoma Associate 34724890
Adenocarcinoma of Lung Associate 35437508, 37543671
Adenocarcinoma of Lung Stimulate 39273449
Agammaglobulinemia Associate 18606301, 22271396
Ameloblastoma Associate 21643971
Amyotrophic Lateral Sclerosis Associate 21659498
Aortic Valve Calcification of Associate 28246602
Aortic Valve Stenosis Associate 28246602
Aphasia Broca Associate 36818472