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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

TNFRSF11A Gene

protein-coding GIFtS: 64
GCID: GC18P059992

tumor necrosis factor receptor superfamily, member 11a,...

(Previous names: tumor necrosis factor receptor superfamily, member 11a,...)

Explore 66 diseases affiliated with
TNFRSF11A 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 11a, NFKB Activator¹ ²		FEO²
RANK¹ ² ³ ⁵		LOH18CR1²
ODFR² ³ ⁵		OSTS²
CD265¹ ²		PDB2²
Osteoclast Differentiation Factor Receptor² ³		TRANCER²
Receptor Activator Of NF-KB² ³		Loss Of Heterozygosity, 18, Chromosomal Region 1²
OFE² ⁵		Receptor Activator Of Nuclear Factor-Kappa B²
OPTB7² ⁵		Tumor Necrosis Factor Receptor Superfamily Member 11A²
Tumor Necrosis Factor Receptor Superfamily, Member 11a, Activator Of NFKB¹		CD265 Antigen³

External Ids:	HGNC: 11908¹	Entrez Gene: 8792²	Ensembl: ENSG00000141655⁷	OMIM: 603499⁵	UniProtKB: Q9Y6Q6³

Export aliases for TNFRSF11A gene to outside databases

Previous GC identifers: GC18P059830 GC18P059965 GC18P058141 GC18P058143 GC18P056703

(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 TNFRSF11A:

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 important regulators of the interaction between T cells and dendritic cells. This receptor is also

an essential mediator for osteoclast and lymph node development. Mutations at this locus have been associated with

familial expansile osteolysis, autosomal recessive osteopetrosis, and Paget disease of bone. Alternatively spliced

transcript variants have been described for this locus. (provided by RefSeq, Aug 2012)

UniProtKB/Swiss-Prot: TNR11_HUMAN, Q9Y6Q6

Function: Receptor for TNFSF11/RANKL/TRANCE/OPGL; essential for RANKL-mediated osteoclastogenesis. Involved in the

regulation of interactions between T-cells and dendritic cells

Gene Wiki entry for TNFRSF11A (RANK)

(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_000018.9 NC_018929.1 NT_025028.14

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the TNFRSF11A gene promoter:
TBP AML1a
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: TNFRSF11A promoter sequence

Search SABiosciences Chromatin IP Primers for TNFRSF11A

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat TNFRSF11A

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

Entrez Gene cytogenetic band: 18q22.1 Ensembl cytogenetic band: 18q21.33 HGNC cytogenetic band: 18q22.1

TNFRSF11A Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
TNFRSF11A gene location

GeneLoc information about chromosome 18 GeneLoc Exon Structure

GeneLoc location for GC18P059992: view genomic region (about GC identifiers)

Start:	59,992,520 bp from pter	End:	60,058,516 bp from pter
Size:	65,997 bases	Orientation:	plus 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: TNR11_HUMAN, Q9Y6Q6 (See protein sequence)

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

Size: 616 amino acids; 66034 Da

Subunit: Binds to the clefts between the subunits of the TNFSF11 ligand trimer to form a heterohexamer (By similarity).

Interacts with TRAF1, TRAF2, TRAF3, TRAF5 and TRAF6. Interacts (via cytoplasmic domain) with GAB2

Subcellular location: Membrane; Single-pass type I membrane protein (Potential)

Explore the universe of human proteins at neXtProt for TNFRSF11A: NX_Q9Y6Q6

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q9Y6Q6

TNFRSF11A Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (4 alternative transcripts):

NP_001257878.1 NP_001257879.1 NP_001257880.1 NP_003830.1

ENSEMBL proteins:

ENSP00000269485 ENSP00000465500

Human Recombinant Protein Products:

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	Browse ProSpec Recombinant Proteins
	Browse Proteins at Uscn

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

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0009897	external side of plasma membrane	IDA	9367155
GO:0016021	integral to membrane	IEA	--

TNFRSF11A for ontologies About GeneDecksing

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	Browse ELISAs and CLIAs at Uscn

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

TNFRSF11A for domains About GeneDecksing

3 InterPro domains/families:

IPR001368 TNFR/NGFR_Cys_rich_reg

IPR022323 TNFR_11

IPR022361 TNFR_11A

Graphical View of Domain Structure for InterPro Entry Q9Y6Q6

ProtoNet protein and cluster: Q9Y6Q6

1 Blocks protein family: IPB001368 TNFR/CD27/30/40/95 cysteine-rich region

UniProtKB/Swiss-Prot: TNR11_HUMAN, Q9Y6Q6

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: TNR11_HUMAN, Q9Y6Q6

Function: Receptor for TNFSF11/RANKL/TRANCE/OPGL; essential for RANKL-mediated osteoclastogenesis. Involved in the

regulation of interactions between T-cells and dendritic cells

Genatlas biochemistry entry for TNFRSF11A:

tumor necrosis factor receptor superfamily,member 11A,intrinsic hematopoietic cell surface receptor,expressed in

dentritic cells,osteoclast precursors,receptor activator of NFKB,stimulator of JUN kinase,adaptor of TRAFs

TNFR-associated factors,mediating osteoprotegerin ligand (TNFSF11) ligand effects for osteoclastogenesis and

regulating bone mass and calcium metabolism

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In Situ Assay
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Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TNFRSF11A

Gene Ontology (GO): 5/6 molecular function terms (GO ID links to tree view) (see all 6): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0004872	receptor activity	TAS	9367155
GO:0004888	transmembrane signaling receptor activity	IDA	9367155
GO:0005031	tumor necrosis factor-activated receptor activity	ISS	19940926
GO:0005515	protein binding	IPI	15750601
GO:0019955	cytokine binding	IPI	9367155

TNFRSF11A for ontologies About GeneDecksing

3 GenomeRNAi human phenotypes for TNFRSF11A:

Decreased viability of wild-ty

Increased G2M DNA content

Increased number of mitotic ce

Animal Models:
Mouse knock-outs for TNFRSF11A: Tnfrsf11a^tm1.2Pngr Tnfrsf11a^tm1Imx Tnfrsf11a^tm1Wjb
15 MGI mutant phenotypes (inferred from 6 alleles) (MGI details for Tnfrsf11a):

behavior/neurological	cellular	craniofacial	endocrine/exocrine gland	growth/size
hematopoietic system	homeostasis/metabolism	immune system	integument	limbs/digits/tail
liver/biliary system	mortality/aging	reproductive system	respiratory system	skeleton

TNFRSF11A 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 - 5/15 super-pathways (see all 15) About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Akt Signaling

	Akt Signaling	1.00			Tec Kinases Signaling	0.55
	p38 Signaling	0.60

TRAF Pathway

	TRAF Pathway	1.00			TNF Superfamily - Human Ligand-Receptor Interactions & their Associated Functions	0.08
	TNF Superfamily Pathway	0.42

BAFF in B-Cell Signaling

	RANK Signaling in Osteoclasts	0.45			RANKL/RANK Signaling Pathway	0.24
	RANK Pathway	0.29

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

Apoptosis and survival_Anti-apoptotic TNFs/NF-kB/Bcl-2 pathway

Apoptosis and survival Anti-apoptotic TNFs/NF-kB/Bcl-2 pathway

1.00

Apoptosis and survival_Anti-apoptotic TNFs/NF-kB/Bcl-2 pathway

1.00

Pathway sources
See GeneCards unified pathways
Show all pathways

2 EMD Millipore Pathways for TNFRSF11A

	Transcription Role of VDR in regulation of genes involved in osteoporosis
	Apoptosis and survival Anti-apoptotic TNFs/NF-kB/Bcl-2 pathway

1 R&D Systems Pathway for TNFRSF11A

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

5/11 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for TNFRSF11A (see all 11)

	STAT3 Pathway
	TRAF Pathway
	Molecular Mechanisms of Cancer
	Antioxidant Action of Vitamin-C
	TRAIL Pathway

2 Cell Signaling Technology (CST) Pathways for TNFRSF11A

	Apoptosis and Autophagy
	NF-kappaB Signaling

2 GeneGo (Thomson Reuters) Pathways for TNFRSF11A

	Transcription Role of VDR in regulation of genes involved in osteoporosis
	Apoptosis and survival Anti-apoptotic TNFs/NF-kB/Bcl-2 pathway

3 BioSystems Pathways for TNFRSF11A

	RANKL/RANK Signaling Pathway
	TNF-alpha/NF-kB Signaling Pathway
	Osteoclast Signaling

3 Kegg Pathways (Kegg details for TNFRSF11A):

	Cytokine-cytokine receptor interaction
	Osteoclast differentiation
	Rheumatoid arthritis

TNFRSF11A for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for TNFRSF11A

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

5/30 Interacting proteins for TNFRSF11A (Q9Y6Q6³ ENSP00000269485⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 30)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
TRAF5	O00463³, ENSP00000261464⁴	I2D: score=6 STRING: ENSP00000261464
MAP3K7	O43318³, ENSP00000358335⁴	I2D: score=3 STRING: ENSP00000358335
CBLB	Q13191³, ENSP00000264122⁴	I2D: score=1 STRING: ENSP00000264122
TRAF2	Q12933³, ENSP00000247668⁴	I2D: score=6 STRING: ENSP00000247668
TRAF3	Q13114³, ENSP00000332468⁴	I2D: score=4 STRING: ENSP00000332468

About this table

Gene Ontology (GO): 5/23 biological process terms (GO ID links to tree view) (see all 23): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0001503	ossification	--	--
GO:0002250	adaptive immune response	IMP	18606301
GO:0002548	monocyte chemotaxis	NAS	15248232
GO:0007165	signal transduction	TAS	9367155
GO:0007267	cell-cell signaling	TAS	9367155

TNFRSF11A 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

TNFRSF11A for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for TNFRSF11A
10/20 Novoseek chemical compound relationships for TNFRSF11A gene (see all 20) About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
denosumab	89.4	2	20425591 (1), 19653867 (1)
laccer	44.6	3	16538029 (2), 11592959 (1)
1,25 dihydroxy vitamin d3	35.8	4	16519799 (1)
estrogen	32.3	2	17115268 (1), 15688188 (1)
raloxifene	29.7	1	18560259 (1)
pge2	27.1	6	17306833 (1), 16831922 (1), 18033994 (1), 15618359 (1)
gp 130	23.6	1	17138054 (1)
calcitriol	20	4	12810169 (2), 12002510 (1), 18555623 (1)
hydroxyapatite	15.2	3	15020113 (1), 19139991 (1)
polyethylene	14.1	7	15260421 (4), 16806459 (3)

Search CenterWatch for drugs/clinical trials and news about TNFRSF11A / TNR11

(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 TNFRSF11A gene (4 alternative transcripts):

NM_001270949.1 NM_001270950.1 NM_001270951.1 NM_003839.3

Unigene Clusters for TNFRSF11A:

Tumor necrosis factor receptor superfamily, member 11a, NFKB activator

Hs.204044 [show with all ESTs], Hs.621477

Unigene Representative Sequences: NM_003839, AF086403

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

ENST00000269485(uc002lin.3 uc010dpv.3) ENST00000586569 ENST00000592013

ENST00000587697

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Additional cDNA sequence: AF086403.1

2 DOTS entries:

DT.100684514 DT.70100422

24/32 AceView cDNA sequences (see all 32):

CK904786 AI888982 AK125052 BM069857 NM_003839 CB121771 BQ027399 BQ575158

AW026379 BQ130591 AI086138 CK905880 BQ130846 AF086403 AI732573 BQ954369

AI888991 BE548822 BM069608 BE896495 AF018253 CK905881 AW191732 AI733866

GeneLoc Exon Structure

2 Alternative Splicing Database (ASD) splice patterns (SP) for TNFRSF11A About this scheme

ExUns:	1a	·	1b	^	2	^	3	^	4	^	5	^	6	^	7	^	8	^	9	^	10a	·	10b
SP1:
SP2:															-		-		-

ECgene alternative splicing isoforms for TNFRSF11A

(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

TNFRSF11A expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: GGGCTCCTGG

About this image

TNFRSF11A expression in embryonic tissues and stem cells

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

3 LifeMap In Vivo Development Anatomical Compartments/Cells

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Brain

Blood Brain Barrier

Endothelial Cells

Blood Brain Barrier, Endothelium

Brain

Blood Brain Barrier

Postnatal Endothelial Cells

Blood Brain Barrier, Endothelium

Brain

Blood Brain Barrier

Adult Endothelial Cells

Blood Brain Barrier, Endothelium

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See TNFRSF11A Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for TNFRSF11A

SOURCE GeneReport for Unigene clusters: Hs.204044 Hs.621477

UniProtKB/Swiss-Prot: TNR11_HUMAN, Q9Y6Q6

Tissue specificity: Ubiquitous expression with high levels in skeletal muscle, thymus, liver, colon, small intestine

and adrenal gland

SABiosciences Expression via Pathway-Focused PCR Arrays including TNFRSF11A:

TNF Ligands & Receptors in human mouse rat

Cancer Drug Resistance in human mouse rat

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In Situ
Assay Products:

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(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 TNFRSF11A gene from 3/12 species (see all 12) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	TNFRSF11A¹	tumor necrosis factor receptor superfamily, member more	58.23(n) 48.57(a)		769909 XM_001233218.1 XP_001233219.1
lizard (Anolis carolinensis)	Reptilia	TNFRSF11A⁶	--	42(a)	1 ↔ 1	GL343265.1(448297-467597)
zebrafish (Danio rerio)	Actinopterygii	LOC100333821¹	tumor necrosis factor receptor superfamily member 11A-like	42.79(n) 32.68(a)		100333821 XM_002666628.1 XP_002666674.1

ENSEMBL Gene Tree for TNFRSF11A (if available)
TreeFam Gene Tree for TNFRSF11A (if available)

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

Paralogs for TNFRSF11A gene

TNFRSF21² TNFRSF6B² CD40² TNFRSF1B² TNFRSF4² NGFR² TNFRSF14² TNFRSF11B²

LTBR² TNFRSF9²

1 SIMAP similar gene for TNFRSF11A using alignment to 5 protein entries: TNR11_HUMAN (see all proteins):

CD40

TNFRSF11A 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 18 pos	Sequence	#	AA Chg	Type	More	#	Pop	Total sample
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs78304807^1,2	C,F,	--	56701499(+)	`AACAGT/CTNNNN`	4	--	us2k¹		2	WA NA	238
rs4572504^1,2	C	--	56702193(+)	`cagaaA/Tcccag`	4	--	us2k¹ tfbs³		1	NA	2
rs77296927^1,2		--	56702619(+)	`GCTCTG/TCAGAT`	4	--	us2k¹		3	CSA WA NA	240
rs78882470^1,2	F,	--	56702752(+)	`AAAGGG/ACCAAT`	4	--	us2k¹		1	WA	118
rs34005112^1,2	C,F,	--	56703559(+)	`CGGCGG/ACATCC`	4	--	int¹		1	EA	120
rs75064812^1,2	F,	--	56703704(+)	`AGGTTG/AGCGGG`	4	--	int¹		1	NA	120
rs72931559^1,2	C,F,	--	56703819(+)	`NNNNGC/TGGTGC`	4	--	int¹		4	NA CSA WA	242
rs56382559^1,2	F,	--	56704059(+)	`GCTGGA/GCTTGA`	4	--	int¹		1	NA	120
rs79372404^1,2	F,	--	56704333(+)	`CAGCCG/AGGCAC`	4	--	int¹		1	WA	118
rs75602938^1,2		--	56704475(+)	`CCAATT/CGTATG`	4	--	int¹		1	NA	120

HapMap Linkage Disequilibrium report for TNFRSF11A (59992520 - 60058516 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for TNFRSF11A: --
Human Gene Mutation Database (HGMD): TNFRSF11A

SABiosciences Cancer Mutation PCR Assays

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(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.)
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TNFRSF11A for disorders           About GeneDecksing

OMIM gene information: 603499
OMIM disorders: 174810  602080  612301
UniProtKB/Swiss-Prot: TNR11_HUMAN, Q9Y6Q6

Defects in TNFRSF11A are the cause of familial expansile osteolysis (FEO) [MIM:174810]. FEO is a rare

autosomal dominant bone disorder characterized by focal areas of increased bone remodeling. The osteolytic lesions

develop usually in the long bones during early adulthood. FEO is often associated with early onset deafness and loss

of dentition

Defects in TNFRSF11A are a cause of Paget disease of bone type 2 (PDB2) [MIM:602080]; also known as familial

Paget disease of bone. PDB2 is a bone-remodeling disorder with clinical similarities to FEO. Unlike FEO, however,

affected individuals have involvement of the axial skeleton with lesions in the spine, pelvis and skull

Defects in TNFRSF11A are the cause of osteopetrosis autosomal recessive type 7 (OPTB7) [MIM:612301]; also

called osteoclast-poor osteopetrosis with hypogammaglobulinemia. Osteopetrosis is a rare genetic disease characterized

by abnormally dense bone, due to defective resorption of immature bone. The disorder occurs in two forms: a severe

autosomal recessive form occurring in utero, infancy, or childhood, and a benign autosomal dominant form occurring in

adolescence or adulthood. OPTB7 is characterized by paucity of osteoclasts, suggesting a molecular defect in

osteoclast development. OPTB7 is associated with hypogammaglobulinemia

20/66 diseases for TNFRSF11A (see all 66): About MalaCards

paget's disease of bone osteolysis osteopetrosis osteopetrosis autosomal recessive 7

chronic recurrent multifocal osteomyelitis paget disease, juvenile osteoporosis, postmenopausal root resorption

bone resorption disease humoral hypercalcemia of malignancy giant cell tumor otitis media

hypercalcemia ankylosing spondylitis oral squamous cell carcinoma osteomyelitis

systemic lupus erythematosus squamous cell carcinoma lupus erythematosus osteoporosis

2 diseases from the University of Copenhagen DISEASES database for TNFRSF11A:

Paget's disease of bone Mammary Paget's disease

10/40 Novoseek disease relationships for TNFRSF11A gene (see all 40) About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
familial expansile osteolysis	93.6	18	17284635 (2), 11555792 (1), 11771666 (1), 11973628 (1) (see all 12)
paget disease, juvenile	82.3	5	17284635 (2), 17174136 (1)
bone destruction	82.3	6	11481364 (2), 18979165 (1), 16322249 (1), 18685421 (1) (see all 5)
osteolysis	81.6	14	15615495 (2), 11521937 (1), 16806459 (1), 14607494 (1) (see all 11)
bone diseases	81.3	20	20128323 (2), 14510950 (1), 18632461 (1), 11486316 (1) (see all 15)
osteolytic	79.5	7	15363860 (1), 15819451 (1), 16322249 (1), 16995812 (1) (see all 7)
bone loss	75.1	20	16806459 (2), 18929692 (2), 12379618 (2), 14690142 (1) (see all 16)
osteoporosis	72.3	15	19076348 (1), 14523602 (1), 16105967 (1), 16908001 (1) (see all 10)
osteoporosis postmenopausal	68.8	4	18560259 (1), 16373338 (1), 11121682 (1)
osteopetrosis	67.6	6	18606301 (2)

Genetic Association Database (GAD): TNFRSF11A
Human Genome Epidemiology (HuGE) Navigator: TNFRSF11A (34 documents)

Export disorders for TNFRSF11A 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 TNFRSF11A gene, integrated from 9 sources (see all 414):
(articles sorted by number of sources associating them with TNFRSF11A)

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A homologue of the TNF receptor and its ligand enhance T-cell growth and dendritic-cell function. (PubMed id 9367155)^{1, 2, 3, 9} Anderson D.M....Galibert L. (1997)
Human osteoclast-poor osteopetrosis with hypogammaglobulinemia due to TNFRSF11A (RANK) mutations. (PubMed id 18606301)^{1, 2, 9} Guerrini M.M....Frattini A. (2008)
The TRAF family of signal transducers mediates NF-kappaB activation by the TRANCE receptor. (PubMed id 9774460)^{1, 2, 9} Wong B.R....Choi Y. (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)
The molecular scaffold Gab2 is a crucial component of RANK signaling and osteoclastogenesis. (PubMed id 15750601)^{1, 2, 9} Wada T.... Penninger J.M. (2005)
Mutations in TNFRSF11A, affecting the signal peptide of RANK, cause familial expansile osteolysis. (PubMed id 10615125)^{1, 2, 9} Hughes A.E....Anderson D.M. (2000)
RANK is the essential signaling receptor for osteoclast differentiation factor in osteoclastogenesis. (PubMed id 9878548)^{1, 2} Nakagawa N.... Higashio K. (1998)
The hematopoietic transcription factor PU.1 regulates RANK gene expression in myeloid progenitors. (PubMed id 16083856)^{1, 9} Kwon O.H....Lee H.J. (2005)
Activation of NF-kappaB by RANK requires tumor necrosis factor receptor-associated factor (TRAF) 6 and NF-kappaB-inducing kinase. Identification of a novel TRAF6 interaction motif. (PubMed id 10075662)^{1, 9} Darnay B.G....Aggarwal B.B. (1999)

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

Query String		PubMed OMIM NCBI Bookshelf
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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 8792	HGNC: 11908	AceView: TNFRSF11A	Ensembl:ENSG00000141655	euGenes: HUgn8792
ECgene: TNFRSF11A	Kegg: 8792	H-InvDB: TNFRSF11A

(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 TNFRSF11A	Pharmacogenomics, SNPs, Pathways
ATLAS Chromosomes in Cancer entry for TNFRSF11A	Genetics and Cytogenetics in Oncology and Haematology
GeneReviews	http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/TNFRSF11A

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TNFRSF11A Gene

tumor necrosis factor receptor superfamily, member 11a,...

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Osteopetrosis
FAMILIAL EXPANSILE OSTEOLYSIS
Central giant cell granuloma
BONE TUMOR
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TNFRSF11A Gene

tumor necrosis factor receptor superfamily, member 11a,...

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