Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
4982
Gene name Gene Name - the full gene name approved by the HGNC.
TNF receptor superfamily member 11b
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
TNFRSF11B
Synonyms (NCBI Gene) Gene synonyms aliases
OCIF, OPG, PDB5, TR1
Chromosome Chromosome number
8
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
8q24.12
Summary Summary of gene provided in NCBI Entrez Gene.
The protein encoded by this gene is a member of the TNF-receptor superfamily. This protein is an osteoblast-secreted decoy receptor that functions as a negative regulator of bone resorption. This protein specifically binds to its ligand, osteoprotegerin l
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs104894091 C>T Pathogenic Coding sequence variant, missense variant
rs104894092 A>G Pathogenic Coding sequence variant, missense variant
rs144654126 G>A Uncertain-significance, conflicting-interpretations-of-pathogenicity Coding sequence variant, synonymous variant
rs146450643 C>T Conflicting-interpretations-of-pathogenicity Coding sequence variant, synonymous variant
rs200071478 T>C,G Pathogenic Missense variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT023202 hsa-miR-124-3p Microarray 18668037
MIRT031067 hsa-miR-21-5p Microarray 20371350
MIRT053664 hsa-miR-181a-5p Microarray 22942087
MIRT1442877 hsa-miR-135a CLIP-seq
MIRT1442878 hsa-miR-135b CLIP-seq
Transcription factors
Transcription factor Regulation Reference
CREB5 Repression 21132541
HOXC8 Unknown 11139569
PPARG Unknown 12056809
SMAD1 Unknown 11139569
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0001501 Process Skeletal system development TAS 9108485
GO:0005125 Function Cytokine activity TAS 9168977
GO:0005515 Function Protein binding IPI 22664871, 32814053
GO:0005576 Component Extracellular region IEA
GO:0005576 Component Extracellular region NAS 22664871
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
602643 11909 ENSG00000164761
Protein
UniProt ID O00300
Protein name Tumor necrosis factor receptor superfamily member 11B (Osteoclastogenesis inhibitory factor) (Osteoprotegerin)
Protein function Acts as a decoy receptor for TNFSF11/RANKL and thereby neutralizes its function in osteoclastogenesis. Inhibits the activation of osteoclasts and promotes osteoclast apoptosis in vitro. Bone homeostasis seems to depend on the local ratio between
PDB 3URF
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00020 TNFR_c6 25 62 TNFR/NGFR cysteine-rich region Domain
PF00020 TNFR_c6 65 105 TNFR/NGFR cysteine-rich region Domain
PF00020 TNFR_c6 107 142 TNFR/NGFR cysteine-rich region Domain
PF00531 Death 278 365 Death domain Domain
Tissue specificity TISSUE SPECIFICITY: Highly expressed in adult lung, heart, kidney, liver, spleen, thymus, prostate, ovary, small intestine, thyroid, lymph node, trachea, adrenal gland, testis, and bone marrow. Detected at very low levels in brain, placenta and skeletal m
Sequence
MNNLLCCALVFLDISIKWTTQETFPPKYLHYDEETSHQLLCDKCPPGTYLKQHCTAKWKT
VC
APCPDHYYTDSWHTSDECLYCSPVCKELQYVKQECNRTHNRVCECKEGRYLEIEFCLK
HRSCPPGFGVVQAGTPERNTVC
KRCPDGFFSNETSSKAPCRKHTNCSVFGLLLTQKGNAT
HDNICSGNSESTQKCGIDVTLCEEAFFRFAVPTKFTPNWLSVLVDNLPGTKVNAESVERI
KRQHSSQEQTFQLLKLWKHQNKDQDIVKKIIQDIDLCENSVQRHIGHANLTFEQLRSLME
SLPGKKVGAEDIEKTIKACKPSDQILKLLSLWRIKNGDQDTLKGLMHALKHSKTYHFPKT
VTQSL
KKTIRFLHSFTMYKLYQKLFLEMIGNQVQSVKISCL
Sequence length 401
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  Cytokine-cytokine receptor interaction
Osteoclast differentiation
  TNFs bind their physiological receptors
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Hyperphosphatasemia With Bone Disease hyperphosphatasemia with bone disease rs2129878039, rs200071478, rs1307942060, rs796051868, rs104894091 N/A
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Asthma Asthma N/A N/A GWAS
Hypothyroidism Hypothyroidism N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Acidemia isovaleric Associate 20723612
Acro Osteolysis Associate 29680857
Acromegaly Associate 39741885
Acute Coronary Syndrome Stimulate 23788300
Addison Disease Stimulate 23388484
Aggressive Periodontitis Inhibit 32074214
Albuminuria Associate 21940840
Alveolar Bone Loss Associate 25814780
Alzheimer Disease Associate 39394418
Ameloblastoma Associate 21643971