Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
8792
Gene name Gene Name - the full gene name approved by the HGNC.
TNF receptor superfamily member 11a
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
TNFRSF11A
Synonyms (NCBI Gene) Gene synonyms aliases
CD265, FEO, LOH18CR1, ODFR, OFE, OPTB7, OSTS, PDB2, RANK, TRANCE-R, TRANCER
Disease Acronyms (UniProt) Disease acronyms from UniProt database
FEO, OPTB7, PDB2
Chromosome Chromosome number
18
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
18q21.33
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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.
miRTarBase ID miRNA Experiments Reference
MIRT029973 hsa-miR-26b-5p Microarray 19088304
MIRT054780 hsa-miR-503-5p Luciferase reporter assay, Microarray, Northern blot, qRT-PCR, Western 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 factor Regulation Reference
SPI1 Unknown 16083856
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0001503 Process Ossification IBA 21873635
GO:0002250 Process Adaptive immune response IMP 18606301
GO:0002548 Process Monocyte chemotaxis NAS 15248232
GO:0004888 Function Transmembrane signaling receptor activity IDA 9367155
GO:0005031 Function Tumor necrosis factor-activated receptor activity IBA 21873635
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
603499 11908 ENSG00000141655
Protein
UniProt ID 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 information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Anemia Anemia rs118204044, rs118204045, rs118204046, rs121918330, rs869320719, rs869312029, rs121918332, rs869320724, rs767094129, rs786205058, rs786205059, rs137853119, rs137853120, rs137853121, rs1384933966
View all (89 more)
Developmental delay Global developmental delay rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291
View all (32 more)
Expansile osteolysis Familial expansile osteolysis rs879253796, rs886037749 10615125
Hearing loss Conductive hearing loss rs267607135, rs267606855, rs779841884, rs267606854, rs28942097, rs121908073, rs121908076, rs74315289, rs121908144, rs111033313, rs74315437, rs121908348, rs121908349, rs121908350, rs397515359
View all (184 more)
Unknown
Disease term Disease name Evidence References Source
Asthma Asthma, Childhood asthma 31036433, 30929738 ClinVar, GWAS
Vitiligo Vitiligo GWAS
Eczema Eczema GWAS
Myasthenia Gravis Myasthenia Gravis GWAS
Associations from Text Mining
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