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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

TNFRSF11B Gene

protein-coding GIFtS: 69
GCID: GC08M119935

tumor necrosis factor receptor superfamily, member 11b

(Previous name: osteoprotegerin )
(Previous symbol: OPG)

Explore 180 diseases affiliated with
TNFRSF11B via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Tumor Necrosis Factor Receptor Superfamily, Member 11b¹ ²		Osteoprotegerin³
OCIF¹ ² ³ ⁵		Osteoclastogenesis Inhibitory Factor² ³
OPG¹ ² ³ ⁵		Tumor Necrosis Factor Receptor Superfamily Member 11B²
TR1¹ ²		Osteoprotegerin³

External Ids:	HGNC: 11909¹	Entrez Gene: 4982²	Ensembl: ENSG00000164761⁷	OMIM: 602643⁵	UniProtKB: O00300³

Export aliases for TNFRSF11B gene to outside databases

Previous GC identifers: GC08M118923 GC08M119997 GC08M119604 GC08M119892 GC08M120004 GC08M115263

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for TNFRSF11B:

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)

UniProtKB/Swiss-Prot: TR11B_HUMAN, O00300

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

Gene Wiki entry for TNFRSF11B (Osteoprotegerin)

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000008.10 NC_018919.1 NT_008046.16

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the TNFRSF11B gene promoter:
AML1a Nkx2-5 NF-kappaB Roaz FAC1 POU2F1 POU2F1a NF-kappaB1
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: TNFRSF11B promoter sequence

Search SABiosciences Chromatin IP Primers for TNFRSF11B

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat TNFRSF11B

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 8q24 Ensembl cytogenetic band: 8q24.12 HGNC cytogenetic band: 8q24

TNFRSF11B Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
TNFRSF11B gene location

GeneLoc information about chromosome 8 GeneLoc Exon Structure

GeneLoc location for GC08M119935: view genomic region (about GC identifiers)

Start:	119,935,796 bp from pter	End:	119,964,439 bp from pter
Size:	28,644 bases	Orientation:	minus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: TR11B_HUMAN, O00300 (See protein sequence)

Recommended Name: Tumor necrosis factor receptor superfamily member 11B precursor

Size: 401 amino acids; 46026 Da

Subunit: Homodimer. Interacts with TNFSF10 and TNFSF11

Subcellular location: Secreted

1 PDB 3D structure from and Proteopedia for TNFRSF11B:

3URF (3D)

Secondary accessions: B2R9A8 O60236 Q53FX6 Q9UHP4

Explore the universe of human proteins at neXtProt for TNFRSF11B: NX_O00300

Post-translational modifications:

N-glycosylated. Contains sialic acid residues¹

The N-terminus is blocked¹

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_O00300

TNFRSF11B Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_002537.3

ENSEMBL proteins:

ENSP00000297350 ENSP00000427924

Human Recombinant Protein Products:

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	ProSpec Recombinant Protein for TNFRSF11B
	Uscn Proteins for TNFRSF11B

Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005576	extracellular region	TAS	9108485
GO:0005578	proteinaceous extracellular matrix	IEA	--
GO:0005615	extracellular space	IDA	15516325

TNFRSF11B for ontologies About GeneDecksing

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	Uscn ELISAs and CLIAs for TNFRSF11B

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

TNFRSF11B for domains About GeneDecksing

5 InterPro domains/families:

IPR001368 TNFR/NGFR_Cys_rich_reg

IPR017371 TNFR_11B

IPR011029 DEATH-like_dom

IPR000488 Death_domain

IPR022323 TNFR_11

Graphical View of Domain Structure for InterPro Entry O00300

ProtoNet protein and cluster: O00300

2 Blocks protein families:

IPB000488 Death domain

IPB001368 TNFR/CD27/30/40/95 cysteine-rich region

UniProtKB/Swiss-Prot: TR11B_HUMAN, O00300

Similarity: Contains 2 death domains

Similarity: Contains 4 TNFR-Cys repeats

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

UniProtKB/Swiss-Prot: TR11B_HUMAN, O00300

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

Induction: Up-regulated by increasing calcium-concentration in the medium and estrogens. Down-regulated by

glucocorticoids

Genatlas biochemistry entry for TNFRSF11B:

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)

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In Situ Assay
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Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TNFRSF11B

Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0004872	receptor activity	TAS	9108485
GO:0005125	cytokine activity	TAS	9168977

TNFRSF11B for ontologies           About GeneDecksing

Animal Models:
     Mouse knock-outs for TNFRSF11B: Tnfrsf11b^tm1Khs Tnfrsf11b^tm1Eac Tnfrsf11b^tm1Wss
     10 MGI mutant phenotypes (inferred from 3 alleles) (MGI details for Tnfrsf11b):

cardiovascular system	cellular	craniofacial	growth/size	hearing/vestibular/ear
hematopoietic system	immune system	limbs/digits/tail	mortality/aging	skeleton

TNFRSF11B for phenotypes About GeneDecksing

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways - 5/10 super-pathways (see all 10) About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Transcription_Role of VDR in regulation of genes involved in osteoporosis

Transcription_Role of VDR in regulation of genes involved in osteoporosis

1.00

Transcription Role of VDR in regulation of genes involved in osteoporosis

0.80

TRAF Pathway

TNF Superfamily Pathway

0.42

TNF Superfamily - Human Ligand-Receptor Interactions & their Associated Functions

0.08

Monoamine Transport

Monoamine Transport

1.00

Osteoblast Signaling

Osteoblast Signaling

1.00

Apoptosis Modulation and Signaling

Apoptosis Modulation and Signaling

1.00

Pathway sources
See GeneCards unified pathways
Show all pathways

1 EMD Millipore Pathway for TNFRSF11B

Transcription Role of VDR in regulation of genes involved in osteoporosis

1 R&D Systems Pathway for TNFRSF11B

TNF Superfamily - Human Ligand-Receptor Interactions & their Associated Functions

2 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for TNFRSF11B

	TRAIL Pathway
	TNF Superfamily Pathway

1 GeneGo (Thomson Reuters) Pathway for TNFRSF11B

Transcription Role of VDR in regulation of genes involved in osteoporosis

5 BioSystems Pathways for TNFRSF11B

	Apoptosis Modulation and Signaling
	Monoamine Transport
	RANKL/RANK Signaling Pathway
	Osteoclast Signaling
	Osteoblast Signaling

2 Kegg Pathways (Kegg details for TNFRSF11B):

	Cytokine-cytokine receptor interaction
	Osteoclast differentiation

TNFRSF11B for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for TNFRSF11B

STRING Interaction Network Preview (showing 5 interactants - click image to see 7)

5/7 Interacting proteins for TNFRSF11B (O00300³ ENSP00000297350⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 7)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
TNFSF13	O75888³, ENSP00000343505⁴	I2D: score=2 STRING: ENSP00000343505
FN1	P02751³, ENSP00000346839⁴	I2D: score=1 STRING: ENSP00000346839
TNFSF10	P50591³, ENSP00000241261⁴	I2D: score=1 STRING: ENSP00000241261
VWF	P04275³, ENSP00000261405⁴	I2D: score=1 STRING: ENSP00000261405
TNFSF11	O14788³, ENSP00000239849⁴	I2D: score=2 STRING: ENSP00000239849

About this table

Gene Ontology (GO): 5/12 biological process terms (GO ID links to tree view) (see all 12): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0001501	skeletal system development	TAS	9108485
GO:0006915	apoptotic process	IEA	--
GO:0007165	signal transduction	IEA	--
GO:0007584	response to nutrient	IEA	--
GO:0010035	response to inorganic substance	--	--

TNFRSF11B for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

TNFRSF11B for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for TNFRSF11B

1 HMDB Compound for TNFRSF11B About this table

Compound	Synonyms	CAS #	PubMed Ids
Calcium	Ca (see all 2)	7440-70-2	--

10/107 Novoseek chemical compound relationships for TNFRSF11B gene (see all 107) About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
denosumab	84.1	7	16370384 (1), 17211092 (1), 18377337 (1), 16188502 (1) (see all 7)
zoledronic acid	66.8	45	16715352 (5), 19670154 (4), 11855844 (3), 17013645 (2) (see all 16)
deoxypyridinoline	66.1	26	16404967 (1), 19484355 (1), 11204435 (1), 16899502 (1) (see all 15)
hcc-1	61.2	4	12773123 (2), 16418778 (1)
1,25 dihydroxy vitamin d3	59.4	13	9784422 (2), 11182380 (2), 17541498 (1), 19464673 (1) (see all 6)
vitamin d	56.9	36	20041365 (3), 19134349 (2), 19131500 (2), 19473634 (2) (see all 21)
calcitriol	52.7	22	14693199 (2), 17654323 (1), 19134349 (1), 19073256 (1) (see all 13)
pamidronate	52.4	15	11855844 (3), 16979395 (3), 12845688 (2), 14616979 (1) (see all 8)
25-hydroxyvitamin d	52.3	22	20350696 (2), 17654323 (1), 14529897 (1), 17541498 (1) (see all 11)
calcium	50.7	135	14525906 (4), 15631342 (3), 17712108 (2), 18421566 (2) (see all 71)

Search CenterWatch for drugs/clinical trials and news about TNFRSF11B / TR11B

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for TNFRSF11B gene:

NM_002546.3

Unigene Cluster for TNFRSF11B:

Tumor necrosis factor receptor superfamily, member 11b

Hs.81791 [show with all ESTs]

Unigene Representative Sequence: NM_002546

3 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000297350(uc003yon.4) ENST00000521597 ENST00000517352(uc010mdc.1)

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		SwitchGear 3'UTR luciferase reporter plasmid: TNFRSF11B 3' UTR sequence

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		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat TNFRSF11B

Additional cDNA sequence:

AB002146.1 AF134187.1 AK223155.1 AK308524.1 AK313710.1 BC011023.1 BC030155.2 U94332.1

3 DOTS entries:

DT.214628 DT.95164900 DT.422066

24/100 AceView cDNA sequences (see all 100):

AF134187 NM_002546 AI168275 CR592423 BM748946 C16486 AL543947 H88770

BM840192 BF194916 AI754898 AA194983 BQ001556 BQ000897 CA422210 CF551889

BC030155 AA599841 AI356557 C16511 CK903485 BF590126 AB002146 BG753459

GeneLoc Exon Structure

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

TNFRSF11B expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: GATGAGTAAA

About this image

TNFRSF11B expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

1 LifeMap In Vivo Development Anatomical Compartment/Cell

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Brain

Blood Brain Barrier

Postnatal Endothelial Cells

Blood Brain Barrier, Endothelium

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

Stem Cell Differentiation: 9 LifeMap Cells

Name

Category

Sclerotome cells (Primary Cell)

Bone, Cartilage, Somite

PureStem™ myogenic progenitor Z11 (Embryonic Progenitor Cell)

Heart, Myocardium, Smooth Muscle

PureStem™ mesenchymal progenitor 7SMOO32 (Embryonic Progenitor Cell)

Adipose, Bone, Cartilage

PureStem™ mesenchymal progenitor 4D20.8 (Embryonic Progenitor Cell)

Lateral Plate Mesoderm, Neural Crest

PureStem™ mesenchymal progenitor E15 (Embryonic Progenitor Cell)

Adipose, Bone, Cartilage

PureStem™ progenitor E44 (Embryonic Progenitor Cell)

PureStem™ progenitor U31 (Embryonic Progenitor Cell)

Definitive endoderm-like cells (A scalable, suspensi...)

Cardiomyocyte-like cells (Spontaneous differen...)

See TNFRSF11B Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for TNFRSF11B

SOURCE GeneReport for Unigene cluster: Hs.81791

UniProtKB/Swiss-Prot: TR11B_HUMAN, O00300

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

SABiosciences Expression via Pathway-Focused PCR Arrays including TNFRSF11B (see all 9):

Apoptosis in human mouse rat

Inflammatory Response & Autoimmunity 384HT in human mouse rat

Inflammatory Cytokines & Receptors in human mouse rat

TNF Ligands & Receptors in human mouse rat

Common Cytokines in human mouse rat

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		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat TNFRSF11B

In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TNFRSF11B

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of chordates.

Orthologs for TNFRSF11B gene from 3/11 species (see all 11) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Tnfrsf11b^{1 , 5}	tumor necrosis factor receptor superfamily, member more^{1, 5}	83.96(n)¹ 85.04(a)¹		15 (21.15 cM)⁵ 18383¹ NM_008764.3¹ NP_032790.3¹ 54250619⁵
chicken (Gallus gallus)	Aves	TNFRSF11B¹	tumor necrosis factor receptor superfamily, member more	71.74(n) 69.58(a)		378803 NM_001033641.1 NP_001028813.1
lizard (Anolis carolinensis)	Reptilia	TNFRSF11B⁶	--	65(a)	1 ↔ 1	GL343269.1(719069-727926)

ENSEMBL Gene Tree for TNFRSF11B (if available)
TreeFam Gene Tree for TNFRSF11B (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for TNFRSF11B gene

TNFRSF21² TNFRSF6B² CD40² TNFRSF1B² TNFRSF4² TNFRSF11A² TNFRSF9² NGFR²

TNFRSF14² LTBR²

1 SIMAP similar gene for TNFRSF11B using alignment to 2 protein entries: TR11B_HUMAN (see all proteins):

TNFRSF6B

TNFRSF11B for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
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SNP ID	Valid	Clinical significance	Chr 8 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs104894092^1,2	C	pathogenic	115272763(-)	`TAGAGC/TTCTGC`	2	L F	mis¹		0	--	--	--	--
rs104894091^1,2	C	pathogenic	115272852(-)	`CGTGTA/GCAAGG`	2	Y C	mis¹		0	--	--	--	--
rs11573949^1,2	C,F,H,	--	115263136(-)	`AAGACT/CGGAGA`	1	--	ds500¹		14		NS EA NA CSA WA	1616
rs11573948^1,2	C	--	115263436(-)	`AAATTA/GTCTGA`	1	--	ut3¹		3		NS NA	172
rs7815440^1,2	C,F,	--	115263565(+)	`TACCTA/TTTAGA`	1	--	ut3¹ ese³		9		NS WA	956
rs11573947^1,2	C,F,H,	--	115263603(-)	`GAAAAT/CATATA`	1	--	ut3¹ ese³		5		NS NA	678
rs11573946^1,2	C	--	115263621(-)	`ATTATG/AACAAA`	1	--	ut3¹		3		NS NA	178
rs11573945^1,2	C,F,H,	--	115263776(-)	`GAAAGC/ACATAT`	1	--	ut3¹		3		NS NA	402
rs7815884^1,2	C,F,A,H,	--	115263781(+)	`GCTTTC/TTAATA`	1	--	ut3¹ ese³		15		NS EA NA WA CSA	1736
rs11573944^1,2	C,F,H	--	115264081(-)	`TTTCTC/TAGGCA`	1	--	ut3¹ ese³		4		NS NA	406

HapMap Linkage Disequilibrium report for TNFRSF11B (119935796 - 119964439 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 1 variation for TNFRSF11B
1 CNV: 3747
Human Gene Mutation Database (HGMD): TNFRSF11B

SABiosciences Cancer Mutation PCR Assays

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing TNFRSF11B

DNA2.0 Custom Variant and Variant Library Synthesis for TNFRSF11B

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

TNFRSF11B for disorders           About GeneDecksing

OMIM gene information: 602643
OMIM disorders: 239000
UniProtKB/Swiss-Prot: TR11B_HUMAN, O00300

Defects in TNFRSF11B are the cause of juvenile Paget disease (JPD) [MIM:239000]; also known as hyperostosis

corticalis deformans juvenilis or hereditary hyperphosphatasia or chronic congenital idiopathic hyperphosphatasia. JPD

is a rare autosomal recessive osteopathy that presents in infancy or early childhood. The disorder is characterized by

rapidly remodeling woven bone, osteopenia, debilitating fractures, and deformities due to a markedly accelerated rate

of bone remodeling throughout the skeleton. Approximately 40 cases of JPD have been reported worldwide. Unless it is

treated with drugs that block osteoclast-mediated skeletal resorption, the disease can be fatal

20/180 diseases for TNFRSF11B (see all 180): About MalaCards

langer-giedion syndrome monoclonal gammopathy of undetermined significance spinal cord injury shwachman-diamond syndrome

paget disease, juvenile pigmented villonodular synovitis multicentric reticulohistiocytosis villonodular synovitis

middle ear cholesteatoma langerhans-cell histiocytosis human t-cell leukemia virus type 1 osteopenia/osteoporosis

osteoporosis, postmenopausal root resorption beta thalassemia chronic apical periodontitis

aortic aneurysm aortic valve stenosis periapical granuloma optic nerve glioma

11 diseases from the University of Copenhagen DISEASES database for TNFRSF11B:

Osteoporosis Arthritis Periodontitis Root resorption

Osteosclerosis Multiple myeloma Kidney disease Paget's disease of bone

Hypercalcemia Atherosclerosis Bone cancer

10/92 Novoseek disease relationships for TNFRSF11B gene (see all 92) About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
paget disease, juvenile	88.7	26	16135836 (3), 15068491 (3), 16491292 (2), 17284635 (2) (see all 13)
bone diseases	86.9	74	12424190 (3), 19201081 (2), 15775610 (2), 15363860 (1) (see all 53)
bone destruction	85.6	45	11358823 (2), 10802707 (2), 12183580 (2), 15775561 (2) (see all 27)
bone loss	84.4	139	12847699 (4), 19701599 (3), 14742260 (3), 15615494 (3) (see all 81)
osteoporosis	83.4	182	12793029 (4), 12181640 (4), 15526523 (4), 19229472 (3) (see all 99)
osteolytic	81.7	40	17471510 (2), 15363860 (1), 16450378 (1), 17964729 (1) (see all 28)
osteolysis	80.7	56	11389072 (3), 19502684 (3), 12177271 (3), 15615495 (2) (see all 37)
familial expansile osteolysis	79.7	4	17284635 (2), 17174136 (1)
calcification	74.7	277	16712673 (6), 17056676 (5), 18463323 (5), 19007931 (5) (see all 99)
osteoporosis postmenopausal	73.9	30	17879531 (2), 18560259 (2), 12629078 (2), 11121682 (2) (see all 18)

Genetic Association Database (GAD): TNFRSF11B
Human Genome Epidemiology (HuGE) Navigator: TNFRSF11B (90 documents)

Export disorders for TNFRSF11B gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
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PubMed articles for TNFRSF11B gene, integrated from 9 sources (see all 1481):
(articles sorted by number of sources associating them with TNFRSF11B)

Utopia: connect your pdf to the dynamic
world of online information

Osteoprotegerin: a novel secreted protein involved in the regulation of bone density. (PubMed id 9108485)^{1, 2, 3} Simonet W.S.... Boyle W.J. (1997)
Susceptibility to Paget's disease of bone is influenced by a common polymorphic variant of osteoprotegerin. (PubMed id 15312251)^{1, 4, 9} Daroszewska A....Ralston S.H. (2004)
Single nucleotide polymorphisms in the human gene for osteoprotegerin are not related to bone mineral density or fracture in elderly women. (PubMed id 14508625)^{1, 4, 9} Brandstrom H....Akesson K. (2004)
Identity of osteoclastogenesis inhibitory factor (OCIF) and osteoprotegerin (OPG): a mechanism by which OPG/OCIF inhibits osteoclastogenesis in vitro. (PubMed id 9492069)^{1, 2, 9} Yasuda H.... Higashio K. (1998)
Variation in genes involved in the RANKL/RANK/OPG bone remodeling pathway are associated with bone mineral density at different skeletal sites in men. (PubMed id 16249885)^{1, 4, 9} Hsu Y.H....Xu X. (2006)
Genetic polymorphisms of OPG, RANK, and ESR1 and bone mineral density in Korean postmenopausal women. (PubMed id 16151677)^{1, 4, 9} Choi J.Y....Kang D. (2005)
Osteoprotegerin is a receptor for the cytotoxic ligand TRAIL. (PubMed id 9603945)^{1, 2, 9} Emery J.G.... Young P.R. (1998)
Sequence variations in the osteoprotegerin gene promoter in patients with postmenopausal osteoporosis. (PubMed id 12213850)^{1, 4, 9} Arko B....Marc J. (2002)
Characterization of structural domains of human osteoclastogenesis inhibitory factor. (PubMed id 9478964)^{1, 2, 9} Yamaguchi K.... Higashio K. (1998)
TNFRSF11B gene variants and bone mineral density in postmenopausal women in Malta. (PubMed id 16343827)^{1, 4, 9} Vidal C....Xuereb Anastasi A. (2006)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 4982	HGNC: 11909	AceView: TNFRSF11B	Ensembl:ENSG00000164761	euGenes: HUgn4982
ECgene: TNFRSF11B	Kegg: 4982	H-InvDB: TNFRSF11B

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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Name	Description
PharmGKB entry for TNFRSF11B	Pharmacogenomics, SNPs, Pathways
ATLAS Chromosomes in Cancer entry for TNFRSF11B	Genetics and Cytogenetics in Oncology and Haematology
NIEHS-SNPs	http://egp.gs.washington.edu/data/tnfrsf11b/

Intellectual Property for TNFRSF11B gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

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Patent Information for TNFRSF11B gene:
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GeneCards and IP:
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TNFRSF11B Gene

tumor necrosis factor receptor superfamily, member 11b

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Spondylitis Ankylosing
Osteopetrosis
Dementia
Gingivitis
Osteoarthritis Knee
Bone Loss Age-Related
Temporomandibular Disorders
Langer-Giedion Syndrome
FAMILIAL EXPANSILE OSTEOLYSIS
OSTEOLYTIC BONE LESION
Cystic Fibrosis
Bone Diseases
Ameloblastoma
Ischemia
Atherosclerosis
Breast Cancer
Hyperparathyroidism Secondary
Rheumatic Diseases
Cancer
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Aneurysm
HYPERPHOSPHATEMIA
bone loss
Periodontal Diseases
Dyslipidemia
RENAL DISEASE
Osteolysis
Hypercalcemia
Osteoporosis Postmenopausal
BONE LESION
Inflammation
osteolytic
Chronic arthritis
OSTEOPOROSIS OSTEOPENIA
MYELOMA
Renal Failure
Osteopenia
Rheumatoid Arthritis
prostate cancer
Tumors
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Aortic Stenosis
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breast cancer metastatic
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major depression
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Heart Failure Congestive
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Calcification
PAGET DISEASE, JUVENILE
Uremia
Arthritis Psoriatic
Coronary Artery Disease
pathologic bone resorption
Aortic Aneurysm Abdominal
Chronic periodontitis
Giant Cell Tumors
skeletal disorder
Osteosclerosis
solid tumor
idiopathic myelofibrosis
Radicular Cyst
Vascular Diseases
Renal Osteodystrophy
reactive hyperemia
BONE DESTRUCTION
Osteomalacia
THYROID CARCINOMA
Synovitis
bone metastases
Renal Failure Chronic
Arthritis

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TNFRSF11B Gene

tumor necrosis factor receptor superfamily, member 11b

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