TNFRSF11A Gene (Protein Coding)

TNF Receptor Superfamily Member 11a

GC18P062325
GIFtS:
46
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 o... See more...

Aliases for TNFRSF11A Gene

Aliases for TNFRSF11A Gene

  • TNF Receptor Superfamily Member 11a 2 3 5
  • RANK 2 3 4
  • Tumor Necrosis Factor Receptor Superfamily, Member 11a, NFKB Activator 2 3
  • Tumor Necrosis Factor Receptor Superfamily Member 11A 3 4
  • Loss Of Heterozygosity, 18, Chromosomal Region 1 2 3
  • Osteoclast Differentiation Factor Receptor 3 4
  • Receptor Activator Of NF-KB 3 4
  • Paget Disease Of Bone 2 2 3
  • CD265 2 3
  • ODFR 3 4
  • FEO 2 3
  • Tumor Necrosis Factor Receptor Superfamily, Member 11a, Activator Of NFKB 2
  • Receptor Activator Of Nuclear Factor-Kappa B 3
  • CD265 Antigen 4
  • TNFRSF11A 5
  • LOH18CR1 3
  • TRANCER 3
  • OPTB7 3
  • OSTS 3
  • PDB2 3
  • OFE 3

External Ids for TNFRSF11A Gene

Previous HGNC Symbols for TNFRSF11A Gene

  • PDB2
  • LOH18CR1

Previous GeneCards Identifiers for TNFRSF11A Gene

  • GC18P059830
  • GC18P059965
  • GC18P058141
  • GC18P058143
  • GC18P056703
  • GC18P059992

Summaries for TNFRSF11A Gene

Entrez Gene Summary for TNFRSF11A 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 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]

GeneCards Summary for TNFRSF11A Gene

TNFRSF11A (TNF Receptor Superfamily Member 11a) is a Protein Coding gene. Diseases associated with TNFRSF11A include Osteopetrosis, Autosomal Recessive 7 and Familial Expansile Osteolysis. Among its related pathways are RANK Signaling in Osteoclasts and Innate Immune System. Gene Ontology (GO) annotations related to this gene include cytokine binding. An important paralog of this gene is TNFRSF1B.

UniProtKB/Swiss-Prot Summary for TNFRSF11A Gene

  • 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 Gene

Additional gene information for TNFRSF11A Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for TNFRSF11A Gene

Genomics for TNFRSF11A Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for TNFRSF11A Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around TNFRSF11A on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for TNFRSF11A

Top Transcription factor binding sites by QIAGEN in the TNFRSF11A gene promoter:
  • AML1a
  • TBP

Genomic Locations for TNFRSF11A Gene

Latest Assembly
chr18:62,325,287-62,391,288
(GRCh38/hg38)
Size:
66,002 bases
Orientation:
Plus strand

Previous Assembly
chr18:59,992,543-60,058,521
(GRCh37/hg19 by Entrez Gene)
Size:
65,979 bases
Orientation:
Plus strand

chr18:59,992,520-60,058,516
(GRCh37/hg19 by Ensembl)
Size:
65,997 bases
Orientation:
Plus strand

Genomic View for TNFRSF11A Gene

Genes around TNFRSF11A on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TNFRSF11A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TNFRSF11A Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for TNFRSF11A Gene

Proteins for TNFRSF11A Gene

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  • Protein details for TNFRSF11A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9Y6Q6-TNR11_HUMAN
    Recommended name:
    Tumor necrosis factor receptor superfamily member 11A
    Protein Accession:
    Q9Y6Q6
    Secondary Accessions:
    • I4EC36
    • I4EC38
    • I4EC39
    • I7JE63
    • N0GVH0
    • Q59EP9

    Protein attributes for TNFRSF11A Gene

    Size:
    616 amino acids
    Molecular mass:
    66034 Da
    Quaternary structure:
    • 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.
    SequenceCaution:
    • Sequence=BAD92999.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};
    Miscellaneous:
    • [Isoform RANK-e5a]: Reduced ability to bind RANKL and to activate NF-kappaB as compared to isoform 1.

    Three dimensional structures from OCA and Proteopedia for TNFRSF11A Gene

    Alternative splice isoforms for TNFRSF11A Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TNFRSF11A Gene

Post-translational modifications for TNFRSF11A Gene

  • Glycosylation at Asn105 and Asn174
  • Modification sites at PhosphoSitePlus

Other Protein References for TNFRSF11A Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibodies for research

  • Abcam antibodies for TNFRSF11A

No data available for DME Specific Peptides for TNFRSF11A Gene

Domains & Families for TNFRSF11A Gene

Gene Families for TNFRSF11A Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • CD markers
  • Disease related genes
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for TNFRSF11A Gene

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

Suggested Antigen Peptide Sequences for TNFRSF11A Gene

GenScript: Design optimal peptide antigens:
  • Receptor activator of NF-KB (TNR11_HUMAN)
genes like me logo Genes that share domains with TNFRSF11A: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for TNFRSF11A Gene

Function for TNFRSF11A Gene

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Molecular function for TNFRSF11A Gene

UniProtKB/Swiss-Prot 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:
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

Phenotypes From GWAS Catalog for TNFRSF11A Gene

Gene Ontology (GO) - Molecular Function for TNFRSF11A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004888 transmembrane signaling receptor activity IDA 9367155
GO:0005031 tumor necrosis factor-activated receptor activity ISS 19940926
GO:0005515 protein binding IEA,IPI 10075662
GO:0019955 cytokine binding IBA,IPI 9367155
GO:0038023 signaling receptor activity TAS 9367155
genes like me logo Genes that share ontologies with TNFRSF11A: view
genes like me logo Genes that share phenotypes with TNFRSF11A: view

Human Phenotype Ontology for TNFRSF11A Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for TNFRSF11A Gene

MGI Knock Outs for TNFRSF11A:

Animal Models for research

Inhibitory RNAs for research

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No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for TNFRSF11A Gene

Localization for TNFRSF11A Gene

Subcellular locations from UniProtKB/Swiss-Prot for TNFRSF11A Gene

[Isoform 1]: Cell membrane. Single-pass type I membrane protein.
[Isoform RANK-e5a]: Cell membrane. Single-pass type I membrane protein.

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 TNFRSF11A gene
Compartment Confidence
plasma membrane 5
cytosol 5
extracellular 3
mitochondrion 3
cytoskeleton 2
nucleus 2
endoplasmic reticulum 2
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Plasma membrane (3)
  • Cytosol (1)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for TNFRSF11A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005829 cytosol IDA --
GO:0005886 plasma membrane IDA,TAS --
GO:0009897 external side of plasma membrane IDA 9367155
GO:0009986 cell surface IEA --
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with TNFRSF11A: view

Pathways & Interactions for TNFRSF11A Gene

PathCards logo

SuperPathways for TNFRSF11A Gene

SuperPathway Contained pathways
1 Akt Signaling
Akt Signaling
.60
p38 Signaling
.60
Tec Kinases Signaling
.55
2 RANK Signaling in Osteoclasts
RANK Signaling in Osteoclasts
.45
RANK Pathway
.38
RANKL/RANK (Receptor activator of NFKB (ligand)) Signaling Pathway
.31
3 PEDF Induced Signaling
STAT3 Pathway
.47
Cytokine-cytokine receptor interaction
.43
4 TRAF Pathway
TNF Superfamily Pathway
.42
TRAF Pathway
.42
5 CDK-mediated phosphorylation and removal of Cdc6
TNFR2 non-canonical NF-kB pathway
.58
TNF receptor superfamily (TNFSF) members mediating non-canonical NF-kB pathway
.01
genes like me logo Genes that share pathways with TNFRSF11A: view

Pathways by source for TNFRSF11A Gene

2 GeneGo (Thomson Reuters) pathways for TNFRSF11A Gene
  • Apoptosis and survival Anti-apoptotic TNFs/NF-kB/Bcl-2 pathway
  • Transcription_Role of VDR in regulation of genes involved in osteoporosis
11 Qiagen pathways for TNFRSF11A Gene
  • Akt Signaling
  • Antioxidant Action of Vitamin-C
  • Molecular Mechanisms of Cancer
  • p38 Signaling
  • RANK Pathway
2 Cell Signaling Technology pathways for TNFRSF11A Gene

SIGNOR curated interactions for TNFRSF11A Gene

Is activated by:
Is inactivated by:

Gene Ontology (GO) - Biological Process for TNFRSF11A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001503 ossification IBA 21873635
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
genes like me logo Genes that share ontologies with TNFRSF11A: view

Drugs & Compounds for TNFRSF11A Gene

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(18) Drugs for TNFRSF11A Gene - From: DrugBank, PharmGKB, DGIdb, IUPHAR, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Denosumab Approved Pharma antagonist, antibody RANKL antagonist, Osteoclast function modifiers (important in bone metastasis) 223
Acetaminophen Approved Pharma 1395
Aspirin Approved, Vet_approved Pharma 1578
Diclofenac Approved, Vet_approved Pharma 412
Risperidone Approved, Investigational Pharma SR-2A inhibitor 545

(10) Additional Compounds for TNFRSF11A Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with TNFRSF11A: view

Transcripts for TNFRSF11A Gene

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mRNA/cDNA for TNFRSF11A Gene

5 REFSEQ mRNAs :
9 NCBI additional mRNA sequence :
7 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 TNFRSF11A

Clone products for research

Alternative Splicing Database (ASD) splice patterns (SP) for TNFRSF11A Gene

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

Relevant External Links for TNFRSF11A Gene

GeneLoc Exon Structure for
TNFRSF11A

Expression for TNFRSF11A Gene

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mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for TNFRSF11A Gene

mRNA expression in normal human tissues for TNFRSF11A Gene
mRNA expression by GTEx for TNFRSF11A GenemRNA expression by BioGPS for TNFRSF11A Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for TNFRSF11A Gene

This gene is overexpressed in Colon - Transverse (x7.3), Pituitary (x4.4), and Small Intestine - Terminal Ileum (x4.1).

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for TNFRSF11A

SOURCE GeneReport for Unigene cluster for TNFRSF11A Gene:

Hs.204044

mRNA Expression by UniProt/SwissProt for TNFRSF11A Gene:

Q9Y6Q6-TNR11_HUMAN
Tissue specificity: Ubiquitous expression with high levels in skeletal muscle, thymus, liver, colon, small intestine and adrenal gland.

Evidence on tissue expression from TISSUES for TNFRSF11A Gene

  • Nervous system(4.5)
  • Blood(4.4)
  • Lymph node(4.4)
  • Spleen(4.3)
  • Bone(2.6)
  • Bone marrow(2.2)
  • Muscle(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for TNFRSF11A Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • immune
  • nervous
  • respiratory
  • skeleton
Regions:
Head and neck:
  • brain
  • cranial nerve
  • ear
  • eye
  • head
  • jaw
  • mandible
  • maxilla
  • middle ear
  • mouth
  • neck
  • outer ear
  • skull
  • tooth
Thorax:
  • chest wall
  • clavicle
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
Abdomen:
  • biliary tract
  • liver
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
  • peripheral nervous system
  • red blood cell
  • spinal column
  • vertebrae
  • white blood cell
genes like me logo Genes that share expression patterns with TNFRSF11A: view

Primer products for research

No data available for Protein differential expression in normal tissues , Protein expression and Protein tissue co-expression partners for TNFRSF11A Gene

Orthologs for TNFRSF11A Gene

This gene was present in the common ancestor of chordates.

Orthologs for TNFRSF11A Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
 Mammalia TNFRSF11A 30 31
  • 98.7 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia TNFRSF11A 30 31
  • 81.92 (n)
 OneToOne
Mouse
(Mus musculus)
 Mammalia Tnfrsf11a 30 17 31
  • 77.57 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Tnfrsf11a 30
  • 77.26 (n)
Cow
(Bos Taurus)
 Mammalia TNFRSF11A 30 31
  • 75.83 (n)
 OneToOne
Platypus
(Ornithorhynchus anatinus)
 Mammalia TNFRSF11A 31
  • 51 (a)
 OneToOne
Oppossum
(Monodelphis domestica)
 Mammalia TNFRSF11A 31
  • 50 (a)
 OneToOne
Chicken
(Gallus gallus)
 Aves TNFRSF11A 30 31
  • 58.13 (n)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia TNFRSF11A 31
  • 41 (a)
 OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia tnfrsf11a 30
  • 58.79 (n)
Zebrafish
(Danio rerio)
 Actinopterygii CT573348.1 31
  • 24 (a)
 OneToOne
Species where no ortholog for TNFRSF11A 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 TNFRSF11A Gene

ENSEMBL:
Gene Tree for TNFRSF11A (if available)
TreeFam:
Gene Tree for TNFRSF11A (if available)
Aminode:
Evolutionary constrained regions (ECRs) for TNFRSF11A: view image

Paralogs for TNFRSF11A Gene

Paralogs for TNFRSF11A Gene

(1) SIMAP similar genes for TNFRSF11A Gene using alignment to 5 proteins:

  • TNR11_HUMAN
  • I4EC36_HUMAN
  • I4EC38_HUMAN
  • I7JE63_HUMAN
  • N0GVH0_HUMAN
genes like me logo Genes that share paralogs with TNFRSF11A: view

Variants for TNFRSF11A Gene

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Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for TNFRSF11A Gene

SNP ID Clinical significance and condition Chr 18 pos Variation AA Info Type
888782 Uncertain Significance: Paget disease of bone 2, early-onset; Autosomal recessive osteopetrosis 7 62,325,331(+) G/T
NM_003839.4(TNFRSF11A):c.-22G>T 		FIVE_PRIME_UTR
888783 Uncertain Significance: Paget disease of bone 2, early-onset; Autosomal recessive osteopetrosis 7 62,325,366(+) C/T
NM_003839.4(TNFRSF11A):c.14C>T (p.Ala5Val) 		MISSENSE
888869 Uncertain Significance: Paget disease of bone 2, early-onset; Autosomal recessive osteopetrosis 7 62,358,267(+) A/G
NM_003839.4(TNFRSF11A):c.447A>G (p.Thr149=) 		SYNONYMOUS_VARIANT,INTRON
888933 Uncertain Significance: Paget disease of bone 2, early-onset; Autosomal recessive osteopetrosis 7 62,361,799(+) G/C
NM_003839.4(TNFRSF11A):c.730+6G>C 		INTRON
888934 Uncertain Significance: Paget disease of bone 2, early-onset; Autosomal recessive osteopetrosis 7 62,366,697(+) G/A
NM_003839.4(TNFRSF11A):c.731-11G>A 		INTRON

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for TNFRSF11A 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 TNFRSF11A Gene

Variant ID Type Subtype PubMed ID
nsv1055910 CNV gain 25217958
nsv577086 CNV loss 21841781

Variation tolerance for TNFRSF11A Gene

Residual Variation Intolerance Score: 56.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.87; 67.43% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for TNFRSF11A Gene

Human Gene Mutation Database (HGMD)
TNFRSF11A
SNPedia medical, phenotypic, and genealogical associations of SNPs for
TNFRSF11A

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TNFRSF11A Gene

Disorders for TNFRSF11A Gene

MalaCards: The human disease database

(35) MalaCards diseases for TNFRSF11A Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

TNR11_HUMAN
  • Familial expansile osteolysis (FEO) [MIM:174810]: 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. {ECO:0000269 PubMed:10615125}. Note=The disease is caused by variants affecting the gene represented in this entry.
  • Paget disease of bone 2, early-onset (PDB2) [MIM:602080]: A 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. {ECO:0000269 PubMed:10615125}. Note=The disease is caused by variants affecting the gene represented in this entry.
  • Osteopetrosis, autosomal recessive 7 (OPTB7) [MIM:612301]: A rare genetic disease characterized by abnormally dense bone, due to defective resorption of immature bone. Osteopetrosis 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. Recessive osteopetrosis commonly manifests in early infancy with macrocephaly, feeding difficulties, evolving blindness and deafness, bone marrow failure, severe anemia, and hepatosplenomegaly. Deafness and blindness are generally thought to represent effects of pressure on nerves. OPTB7 is characterized by paucity of osteoclasts, suggesting a molecular defect in osteoclast development. OPTB7 is associated with hypogammaglobulinemia. {ECO:0000269 PubMed:18606301}. Note=The disease is caused by variants affecting the gene represented in this entry.

Additional Disease Information for TNFRSF11A

Genetic Association Database
(GAD)
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 TNFRSF11A: view

No data available for Genatlas for TNFRSF11A Gene

Publications for TNFRSF11A Gene

  1. Mutations in TNFRSF11A, affecting the signal peptide of RANK, cause familial expansile osteolysis. (PMID: 10615125) Hughes AE … Anderson DM (Nature genetics 2000) 2 3 4 23 74
  2. Human osteoclast-poor osteopetrosis with hypogammaglobulinemia due to TNFRSF11A (RANK) mutations. (PMID: 18606301) Guerrini MM … Frattini A (American journal of human genetics 2008) 3 4 23 74
  3. A homologue of the TNF receptor and its ligand enhance T-cell growth and dendritic-cell function. (PMID: 9367155) Anderson DM … Galibert L (Nature 1997) 2 3 4 23
  4. 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 23 41
  5. 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 23 41

ExternalLinks

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