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 ligand, both of which are key extracellular regulators of osteoclast development. Studies of the mouse counterpart also sugges... See more...

Aliases for TNFRSF11B Gene

Aliases for TNFRSF11B Gene

  • TNF Receptor Superfamily Member 11b 2 3 5
  • Osteoprotegerin 2 3 4
  • OCIF 2 3 4
  • Tumor Necrosis Factor Receptor Superfamily, Member 11b 2 3
  • Tumor Necrosis Factor Receptor Superfamily Member 11B 3 4
  • Osteoclastogenesis Inhibitory Factor 3 4
  • OPG 3 4
  • TR1 2 3
  • TNFRSF11B 5
  • PDB5 3

External Ids for TNFRSF11B Gene

Previous HGNC Symbols for TNFRSF11B Gene

  • OPG

Previous GeneCards Identifiers for TNFRSF11B Gene

  • GC08M119997
  • GC08M119604
  • GC08M119892
  • GC08M120004
  • GC08M119935
  • GC08M115263

Summaries for TNFRSF11B Gene

Entrez Gene Summary for TNFRSF11B 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 ligand, both of which are key extracellular regulators of osteoclast development. Studies of the mouse counterpart also suggest that this protein and its ligand play a role in lymph-node organogenesis and vascular calcification. Alternatively spliced transcript variants of this gene have been reported, but their full length nature has not been determined. [provided by RefSeq, Jul 2008]

GeneCards Summary for TNFRSF11B Gene

TNFRSF11B (TNF Receptor Superfamily Member 11b) is a Protein Coding gene. Diseases associated with TNFRSF11B include Paget Disease Of Bone 5, Juvenile-Onset and Bone Disease. Among its related pathways are Osteoclast Signaling and RANK Signaling in Osteoclasts. Gene Ontology (GO) annotations related to this gene include cytokine activity. An important paralog of this gene is TNFRSF6B.

UniProtKB/Swiss-Prot Summary for TNFRSF11B Gene

  • Acts as 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 TNFSF11 and TNFRSF11B. May also play a role in preventing arterial calcification. May act as decoy receptor for TNFSF10/TRAIL and protect against apoptosis. TNFSF10/TRAIL binding blocks the inhibition of osteoclastogenesis.

Gene Wiki entry for TNFRSF11B Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for TNFRSF11B Gene

Genomics for TNFRSF11B Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for TNFRSF11B Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH08J118948 Promoter/Enhancer 2 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas 250.7 +1.6 1595 5.4 ZNF207 POLR2A ZIC2 CTCF NR2C1 SIN3A ELF1 ZNF316 SMARCA5 BHLHE40 COLEC10 TNFRSF11B RNU6-12P ENSG00000254247 HSALNG0068018 SAMD12
GH08J118953 Promoter 0.3 Ensembl 250.7 -1.2 -1215 0.2 COLEC10 TNFRSF11B RF00026-1053 RNU6-12P MAL2
GH08J118876 Enhancer 1.1 Ensembl ENCODE dbSUPER 5.4 +72.3 72280 6.4 JUND BRCA1 ZNF217 CEBPB MAX EP300 HES1 MBD2 CTBP1 PRDM1 COLEC10 TNFRSF11B HSALNG0068018 HSALNG0068017 SAMD12 SAMD12-AS1
GH08J118743 Enhancer 0.8 Ensembl ENCODE 7.1 +206.8 206804 3.6 ZNF654 CEBPA CTCF REST CEBPB DEK TRIM22 ZNF217 RAD21 RFX5 TNFRSF11B lnc-SAMD12-1 RPS26P35 SAMD12 SAMD12-AS1
GH08J118908 Enhancer 0.9 FANTOM5 Ensembl ENCODE 6.4 +39.9 39863 6.2 PKNOX1 FOXA1 ZNF24 NR2F1 ATF2 POLR2A MTA2 ATF7 EP300 COLEC10 RNU6-12P ENSG00000254247 TNFRSF11B HSALNG0068018 SAMD12 SAMD12-AS1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around TNFRSF11B on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for TNFRSF11B

Top Transcription factor binding sites by QIAGEN in the TNFRSF11B gene promoter:
  • AML1a
  • FAC1
  • NF-kappaB
  • NF-kappaB1
  • Nkx2-5
  • POU2F1
  • POU2F1a
  • Roaz

Genomic Locations for TNFRSF11B Gene

Latest Assembly
chr8:118,923,557-118,951,885
(GRCh38/hg38)
Size:
28,329 bases
Orientation:
Minus strand

Previous Assembly
chr8:119,935,796-119,964,124
(GRCh37/hg19 by Entrez Gene)
Size:
28,329 bases
Orientation:
Minus strand

chr8:119,935,796-119,964,439
(GRCh37/hg19 by Ensembl)
Size:
28,644 bases
Orientation:
Minus strand

Genomic View for TNFRSF11B Gene

Genes around TNFRSF11B on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TNFRSF11B Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TNFRSF11B Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TNFRSF11B Gene

Proteins for TNFRSF11B Gene

  • Protein details for TNFRSF11B Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O00300-TR11B_HUMAN
    Recommended name:
    Tumor necrosis factor receptor superfamily member 11B
    Protein Accession:
    O00300
    Secondary Accessions:
    • B2R9A8
    • O60236
    • Q53FX6
    • Q9UHP4

    Protein attributes for TNFRSF11B Gene

    Size:
    401 amino acids
    Molecular mass:
    46026 Da
    Quaternary structure:
    • Homodimer. Interacts with TNFSF10 and TNFSF11.

    Three dimensional structures from OCA and Proteopedia for TNFRSF11B Gene

neXtProt entry for TNFRSF11B Gene

Post-translational modifications for TNFRSF11B Gene

Other Protein References for TNFRSF11B Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibodies for research

  • Boster Bio Antibodies for TNFRSF11B

No data available for DME Specific Peptides for TNFRSF11B Gene

Domains & Families for TNFRSF11B Gene

Gene Families for TNFRSF11B Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Candidate cardiovascular disease genes
  • Disease related genes
  • Plasma proteins
  • Predicted secreted proteins

Protein Domains for TNFRSF11B Gene

InterPro:
Blocks:
  • TNFR/CD27/30/40/95 cysteine-rich region
  • Death domain

Suggested Antigen Peptide Sequences for TNFRSF11B Gene

GenScript: Design optimal peptide antigens:
  • Osteoprotegerin (TR11B_HUMAN)
genes like me logo Genes that share domains with TNFRSF11B: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for TNFRSF11B Gene

Function for TNFRSF11B Gene

Molecular function for TNFRSF11B Gene

UniProtKB/Swiss-Prot Function:
Acts as 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 TNFSF11 and TNFRSF11B. May also play a role in preventing arterial calcification. May act as decoy receptor for TNFSF10/TRAIL and protect against apoptosis. TNFSF10/TRAIL binding blocks the inhibition of osteoclastogenesis.
UniProtKB/Swiss-Prot Induction:
Up-regulated by increasing calcium-concentration in the medium and estrogens. Down-regulated by glucocorticoids.
GENATLAS Biochemistry:
tumor necrosis factor receptor superfamily,member 11B,expressed in lymphoid cells and up-regulated by CD40 (TNFRSF5) stimulation,involved in osteoclastogenesis,secreted form down-regulating osteoclast differentiation by binding the osteoprotegerin ligand (TNFSF11)

Phenotypes From GWAS Catalog for TNFRSF11B Gene

Gene Ontology (GO) - Molecular Function for TNFRSF11B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005125 cytokine activity TAS 9168977
GO:0005515 protein binding IPI 22664871
GO:0038023 signaling receptor activity TAS 9108485
genes like me logo Genes that share ontologies with TNFRSF11B: view
genes like me logo Genes that share phenotypes with TNFRSF11B: view

Human Phenotype Ontology for TNFRSF11B Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for TNFRSF11B Gene

MGI Knock Outs for TNFRSF11B:

miRNA for TNFRSF11B Gene

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TNFRSF11B

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for TNFRSF11B Gene

Localization for TNFRSF11B Gene

Subcellular locations from UniProtKB/Swiss-Prot for TNFRSF11B Gene

Secreted.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for TNFRSF11B gene
Compartment Confidence
extracellular 5
plasma membrane 4
nucleus 2
cytoskeleton 1
mitochondrion 1
peroxisome 1
endoplasmic reticulum 1
endosome 1
cytosol 1
lysosome 1

Gene Ontology (GO) - Cellular Components for TNFRSF11B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS 9108485
GO:0005615 extracellular space IEA,IDA 15516325
GO:0005886 plasma membrane TAS --
GO:0031012 extracellular matrix IEA --
genes like me logo Genes that share ontologies with TNFRSF11B: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for TNFRSF11B Gene

Pathways & Interactions for TNFRSF11B Gene

genes like me logo Genes that share pathways with TNFRSF11B: view

Pathways by source for TNFRSF11B Gene

1 GeneGo (Thomson Reuters) pathway for TNFRSF11B Gene
  • Transcription_Role of VDR in regulation of genes involved in osteoporosis
2 Qiagen pathways for TNFRSF11B Gene
  • TNF Superfamily Pathway
  • TRAIL Pathway

SIGNOR curated interactions for TNFRSF11B Gene

Is activated by:
Is inactivated by:

Gene Ontology (GO) - Biological Process for TNFRSF11B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001501 skeletal system development TAS 9108485
GO:0006915 apoptotic process IEA --
GO:0007165 signal transduction TAS 9168977
GO:0007584 response to nutrient IEA --
GO:0010035 response to inorganic substance IEA --
genes like me logo Genes that share ontologies with TNFRSF11B: view

Drugs & Compounds for TNFRSF11B Gene

(72) Drugs for TNFRSF11B Gene - From: PharmGKB, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Anastrozole Approved, Investigational Pharma Aromatase inhibitor, Potent aromatase (CYP19) inhibitor, Aromatase Inhibitors, Hormone therapy 354
Letrozole Approved, Investigational Pharma Non-steroidal aromatase inhibitor, Aromatase Inhibitors 568
Calcium Nutra 6959

(37) Additional Compounds for TNFRSF11B Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with TNFRSF11B: view

Transcripts for TNFRSF11B Gene

mRNA/cDNA for TNFRSF11B Gene

1 REFSEQ mRNAs :
12 NCBI additional mRNA sequence :
3 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TNFRSF11B

Alternative Splicing Database (ASD) splice patterns (SP) for TNFRSF11B Gene

No ASD Table

Relevant External Links for TNFRSF11B Gene

GeneLoc Exon Structure for
TNFRSF11B

Expression for TNFRSF11B Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for TNFRSF11B Gene

mRNA differential expression in normal tissues according to GTEx for TNFRSF11B Gene

This gene is overexpressed in Artery - Aorta (x17.4) and Artery - Coronary (x14.9).

Protein differential expression in normal tissues from HIPED for TNFRSF11B Gene

This gene is overexpressed in Milk (40.9), Heart (12.3), and Pancreatic juice (7.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for TNFRSF11B Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for TNFRSF11B

SOURCE GeneReport for Unigene cluster for TNFRSF11B Gene:

Hs.81791

mRNA Expression by UniProt/SwissProt for TNFRSF11B Gene:

O00300-TR11B_HUMAN
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 muscle. Highly expressed in fetal kidney, liver and lung.

Evidence on tissue expression from TISSUES for TNFRSF11B Gene

  • Kidney(4.5)
  • Lung(4.3)
  • Eye(4.2)
  • Heart(2.6)
  • Bone(2.5)
  • Thyroid gland(2.5)
  • Skin(2.2)
  • Nervous system(2.2)
  • Bone marrow(2.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for TNFRSF11B Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • cardiovascular
  • nervous
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • cranial nerve
  • ear
  • eye
  • face
  • head
  • jaw
  • mandible
  • maxilla
  • mouth
  • neck
  • skull
  • tooth
Thorax:
  • chest wall
  • clavicle
  • heart
  • rib
  • rib cage
  • scapula
  • sternum
Abdomen:
  • kidney
Pelvis:
  • pelvis
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • blood vessel
  • peripheral nervous system
  • spinal column
  • vertebrae
genes like me logo Genes that share expression patterns with TNFRSF11B: view

Primer products for research

No data available for Protein tissue co-expression partners for TNFRSF11B Gene

Orthologs for TNFRSF11B Gene

This gene was present in the common ancestor of chordates.

Orthologs for TNFRSF11B Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia TNFRSF11B 29 30
  • 99.42 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia TNFRSF11B 29 30
  • 89.19 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia TNFRSF11B 29 30
  • 87.61 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Tnfrsf11b 29
  • 84 (n)
Mouse
(Mus musculus)
Mammalia Tnfrsf11b 29 16 30
  • 83.96 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia TNFRSF11B 30
  • 78 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia TNFRSF11B 30
  • 70 (a)
OneToOne
Chicken
(Gallus gallus)
Aves TNFRSF11B 29 30
  • 71.74 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia TNFRSF11B 30
  • 66 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia tnfrsf11b 29
  • 58.27 (n)
Zebrafish
(Danio rerio)
Actinopterygii CABZ01053483.1 30
  • 19 (a)
ManyToMany
Species where no ortholog for TNFRSF11B was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for TNFRSF11B Gene

ENSEMBL:
Gene Tree for TNFRSF11B (if available)
TreeFam:
Gene Tree for TNFRSF11B (if available)
Aminode:
Evolutionary constrained regions (ECRs) for TNFRSF11B: view image
Alliance of Genome Resources:
Additional Orthologs for TNFRSF11B

Paralogs for TNFRSF11B Gene

(1) SIMAP similar genes for TNFRSF11B Gene using alignment to 2 proteins:

  • TR11B_HUMAN
  • E5RFV7_HUMAN
genes like me logo Genes that share paralogs with TNFRSF11B: view

Variants for TNFRSF11B Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for TNFRSF11B Gene

SNP ID Clinical significance and condition Chr 08 pos Variation AA Info Type
908146 Uncertain Significance: Hyperphosphatasemia with bone disease 118,923,575(-) C/T
NM_002546.4(TNFRSF11B):c.*799G>A
THREE_PRIME_UTR
908220 Uncertain Significance: Hyperphosphatasemia with bone disease 118,926,690(-) G/A
NM_002546.4(TNFRSF11B):c.621C>T (p.Phe207=)
SYNONYMOUS
910101 Uncertain Significance: Hyperphosphatasemia with bone disease 118,923,765(-) C/T
NM_002546.4(TNFRSF11B):c.*609G>A
THREE_PRIME_UTR
910102 Uncertain Significance: Hyperphosphatasemia with bone disease 118,923,869(-) T/C
NM_002546.4(TNFRSF11B):c.*505A>G
THREE_PRIME_UTR
910103 Uncertain Significance: Hyperphosphatasemia with bone disease 118,923,887(-) A/G
NM_002546.4(TNFRSF11B):c.*487T>C
THREE_PRIME_UTR

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for TNFRSF11B Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for TNFRSF11B Gene

Variant ID Type Subtype PubMed ID
esv2005767 CNV deletion 18987734
esv2737483 CNV deletion 23290073
esv2737484 CNV deletion 23290073
esv2737486 CNV deletion 23290073
esv2737487 CNV deletion 23290073
esv2759639 CNV gain 17122850

Variation tolerance for TNFRSF11B Gene

Residual Variation Intolerance Score: 52.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.03; 37.33% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for TNFRSF11B Gene

Human Gene Mutation Database (HGMD)
TNFRSF11B
SNPedia medical, phenotypic, and genealogical associations of SNPs for
TNFRSF11B
Leiden Open Variation Database (LOVD)
TNFRSF11B

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TNFRSF11B Gene

Disorders for TNFRSF11B Gene

MalaCards: The human disease database

(51) MalaCards diseases for TNFRSF11B Gene - From: OMI, CVR, GTR, ORP, COP, and GCD

Disorder Aliases PubMed IDs
paget disease of bone 5, juvenile-onset
  • pdb5
bone disease
  • skeletal disease
endosteal hyperostosis, autosomal dominant
  • hyperostosis corticalis generalisata, benign form of worth, with torus palatinus
multicentric carpotarsal osteolysis syndrome
  • mcto
familial calcium pyrophosphate deposition
  • calcium pyrophosphate dihydrate crystal deposition disease
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

TR11B_HUMAN
  • Paget disease of bone 5, juvenile-onset (PDB5) [MIM:239000]: An autosomal recessive, juvenile-onset form of Paget disease, a disorder of bone remodeling characterized by increased bone turnover affecting one or more sites throughout the skeleton, primarily the axial skeleton. Osteoclastic overactivity followed by compensatory osteoblastic activity leads to a structurally disorganized mosaic of bone (woven bone), which is mechanically weaker, larger, less compact, more vascular, and more susceptible to fracture than normal adult lamellar bone. PDB5 clinical manifestations include short stature, progressive long bone deformities, fractures, vertebral collapse, skull enlargement, and hyperostosis with progressive deafness. {ECO:0000269 PubMed:12189164}. Note=The disease is caused by variants affecting the gene represented in this entry.

Additional Disease Information for TNFRSF11B

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with TNFRSF11B: view

No data available for Genatlas for TNFRSF11B Gene

Publications for TNFRSF11B Gene

  1. A mutation in the gene TNFRSF11B encoding osteoprotegerin causes an idiopathic hyperphosphatasia phenotype. (PMID: 12189164) Cundy T … Cornish J (Human molecular genetics 2002) 3 4 22 72
  2. Genetic variations in genes encoding RANK, RANKL, and OPG in rheumatoid arthritis: a case-control study. (PMID: 20231205) Assmann G … Wieczorek S (The Journal of rheumatology 2010) 3 22 40
  3. Gene-gene interactions in RANK/RANKL/OPG system influence bone mineral density in postmenopausal women. (PMID: 19896533) Zupan J … Marc J (The Journal of steroid biochemistry and molecular biology 2010) 3 22 40
  4. [Osteoprotegerin gene polymorphism and therapeutic response to alendronate in postmenopausal women with osteoporosis]. (PMID: 20137703) Wang C … Zhang ZL (Zhonghua yi xue za zhi 2009) 3 22 40
  5. The combinations of polymorphisms in vitamin D receptor, osteoprotegerin and tumour necrosis factor superfamily member 11 genes are associated with bone mineral density. (PMID: 19131500) Mencej-Bedrac S … Marc J (Journal of molecular endocrinology 2009) 3 22 40

Products for TNFRSF11B Gene

Sources for TNFRSF11B Gene