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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
- 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
- ODFR 3 4
- RANK 3 4
- Tumor Necrosis Factor Receptor Superfamily, Member 11a, Activator Of NFKB 2
External Ids for TNFRSF11A Gene
- HGNC: 11908
- Entrez Gene: 8792
- Ensembl: ENSG00000141655
- OMIM: 603499
- UniProtKB: Q9Y6Q6
Previous HGNC Symbols for TNFRSF11A Gene
- PDB2
- LOH18CR1
Previous GeneCards Identifiers for TNFRSF11A Gene
- GC18P059830
- GC18P059965
- GC18P058141
- GC18P058143
- GC18P056703
- GC18P059992
Summaries 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 ERK Signaling and CDK-mediated phosphorylation and removal of Cdc6. 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.
Additional gene information for TNFRSF11A Gene
- Monarch Initiative
- Search for TNFRSF11A at DataMed
- Search for TNFRSF11A at HumanCyc
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 for TNFRSF11A Gene
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 UCSC Golden Path with GeneCards custom track
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
Genomic Locations for TNFRSF11A Gene
- chr18:62,325,287-62,391,288
- (GRCh38/hg38)
- Size:
- 66,002 bases
- Orientation:
- Plus strand
- chr18:59,992,520-60,058,516
- (GRCh37/hg19)
- 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:
-
- 18q21.33 by HGNC
- 18q21.33 by Entrez Gene
- 18q21.33 by Ensembl
TNFRSF11A Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for TNFRSF11A Gene
Proteins for TNFRSF11A Gene
-
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
- 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.
- Miscellaneous:
-
- [Isoform RANK-e5a]: Reduced ability to bind RANKL and to activate NF-kappaB as compared to isoform 1.
- SequenceCaution:
-
- Sequence=BAD92999.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};
Post-translational modifications for TNFRSF11A Gene
Other Protein References for TNFRSF11A Gene
Antibody Products
- NSJ Bioreagents RANK Antibody
- Creative Diagnostics Anti-TNFRSF11A monoclonal antibody, clone FQS5851(O)
- Creative Biolabs Recombinant Mouse anti-Human TNFRSF11A Monoclonal antibody (75D2496)
- Novus Biologicals Antibodies for TNFRSF11A
-
Abcam antibodies for TNFRSF11A
- Invitrogen Antibodies for TNFRSF11A (AFLGC-TNFRSF11A)
- antibodies-online: Show 52 available TNFRSF11A Antibodies ranked by validation data
- Compare Top TNFRSF11A Antibodies
-
Recommended
- 32 WB Antibodies (anti-rat)
- 12 IF (p) Antibodies (anti-rat)
- 5 FACS Antibodies (anti-rat)
- 1 IHC (p) Antibody (anti-rat)
- 54 WB Antibodies (anti-mouse)
- 12 IF (p) Antibodies (anti-mouse)
- 7 FACS Antibodies (anti-mouse)
- 1 IHC (p) Antibody (anti-mouse)
- 1 IP Antibody (anti-mouse)
- 98 WB Antibodies (anti-human)
- 16 FACS Antibodies (anti-human)
- 12 IF (p) Antibodies (anti-human)
- 2 EIA Antibodies (anti-human)
- 1 IF Antibody (anti-human)
- 1 IHC (p) Antibody (anti-human)
- 1 IP Antibody (anti-human)
-
Santa Cruz Biotechnology (SCBT) Antibodies for TNFRSF11A
- Sino Biological Antibodies for TNFRSF11A
Protein Products
- G Biosciences Human RANK/TNFRSF11A/CD265, Lyophilized
- RayBiotech Recombinant Human RANK/TNFRSF11A
-
OriGene Purified Proteins for TNFRSF11A
- Search Origene for MassSpec and Protein Over-expression Lysates for TNFRSF11A
- Origene Custom Protein Services for TNFRSF11A
- Sino Biological Recombinant Proteins for TNFRSF11A
- Sino Biological Cell Lysates for TNFRSF11A
- ProSpec Recombinant Proteins for TNFRSF11A
-
Abcam proteins for TNFRSF11A
Assay Products
- RayBiotech Human RANK ELISA
- Creative Diagnostics Mouse RANK ELISA Kit, TNFRSF11A (Human) ELISA Kit, and Human TNFRSF11A ELISA Matched Antibody Pair
- Aviva Systems Biology TNFRSF11A ELISA Kit (Human) : 96 Wells (OKEH02936) and TNFRSF11A ELISA Kit (Human) (OKCD07959)
- Novus Biologicals ELISA Kits for TNFRSF11A
-
Abcam assays 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
- Blocks:
-
- TNFR/CD27/30/40/95 cysteine-rich region
- InterPro:
- ProtoNet:
Suggested Antigen Peptide Sequences for TNFRSF11A Gene
- GenScript: Design optimal peptide antigens:
-
- Receptor activator of NF-KB (TNR11_HUMAN)
No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for TNFRSF11A Gene
Function for TNFRSF11A Gene
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
| 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 | IPI | 9367155 |
| GO:0038023 | signaling receptor activity | TAS | 9367155 |
Phenotypes for TNFRSF11A Gene
- MGI mutant phenotypes for TNFRSF11A:
-
inferred from 8 alleles
- respiratory system phenotype
- limbs/digits/tail phenotype
- digestive/alimentary phenotype
- homeostasis/metabolism phenotype
- behavior/neurological phenotype
- no phenotypic analysis
- neoplasm
- integument phenotype
- endocrine/exocrine gland phenotype
- mortality/aging
- cellular phenotype
- craniofacial phenotype
- liver/biliary system phenotype
- reproductive system phenotype
- skeleton phenotype
- hematopoietic system phenotype
- immune system phenotype
- growth/size/body region phenotype
- GenomeRNAi human phenotypes for TNFRSF11A:
Animal Models for TNFRSF11A Gene
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for TNFRSF11A - Select products 50% OFF >
- * TNFRSF11A CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for TNFRSF11A
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for TNFRSF11A
- genomics-online: gRNA clones - Search for available TNFRSF11A gRNA products
- Overview of 108 available TNFRSF11A gene related products
-
Santa Cruz Biotechnology (SCBT) CRISPR for TNFRSF11A
miRNA for TNFRSF11A Gene
- miRTarBase miRNAs that target TNFRSF11A
-
- hsa-mir-26b-5p (MIRT029973)
- hsa-mir-503-5p (MIRT054780)
- hsa-mir-552-5p (MIRT543093)
- hsa-mir-4775 (MIRT543094)
- hsa-mir-548aw (MIRT543095)
- hsa-mir-19b-3p (MIRT543096)
- hsa-mir-19a-3p (MIRT543097)
- hsa-mir-1468-3p (MIRT543098)
- hsa-mir-548x-5p (MIRT543099)
- hsa-mir-548g-5p (MIRT543100)
- hsa-mir-548f-5p (MIRT543101)
- hsa-mir-548aj-5p (MIRT543102)
- hsa-mir-576-3p (MIRT543103)
- hsa-mir-590-3p (MIRT543104)
- hsa-mir-3160-5p (MIRT553478)
- hsa-mir-3150b-5p (MIRT553479)
- hsa-mir-3150a-5p (MIRT553480)
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for TNFRSF11A
- Browse OriGene Inhibitory RNA Products For TNFRSF11A
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TNFRSF11A
- genomics-online: shRNA clones - Search for available TNFRSF11A shRNA products
- Overview of 108 available TNFRSF11A gene related products
Clone Products
- Applied Biological Materials (abm): Clones for TNFRSF11A - Select products 50% OFF >
- * TNFRSF11A as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for TNFRSF11A
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for TNFRSF11A
Cell Line Products
-
Horizon Cell Lines for TNFRSF11A
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.
| Compartment | Confidence |
|---|---|
| plasma membrane | 5 |
| cytosol | 5 |
| extracellular | 3 |
| mitochondrion | 3 |
| cytoskeleton | 2 |
| nucleus | 2 |
| endoplasmic reticulum | 2 |
| lysosome | 2 |
| golgi apparatus | 2 |
| endosome | 1 |
- Plasma membrane (3)
- Cytosol (1)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005829 | cytosol | IDA | -- |
| GO:0005886 | plasma membrane | TAS | -- |
| GO:0009897 | external side of plasma membrane | IDA | 9367155 |
| GO:0009986 | cell surface | IEA | -- |
| GO:0016020 | membrane | IEA | -- |
Pathways & Interactions 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
|
|
| 3 | PEDF Induced Signaling |
STAT3 Pathway
.47
|
|
| 4 | TRAF Pathway |
TNF Superfamily Pathway
.42
|
TRAF Pathway
.42
|
| 5 | CDK-mediated phosphorylation and removal of Cdc6 | ||
Pathways by source for TNFRSF11A Gene
3 BioSystems pathways for TNFRSF11A Gene
4 Reactome pathways for TNFRSF11A Gene
5 KEGG pathways 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
Interacting Proteins for TNFRSF11A Gene
Selected Interacting proteins:
Q9Y6Q6-TNR11_HUMAN
ENSP00000465500
for TNFRSF11A Gene via
UniProtKB
STRING
IID
GPS-Prot Interaction Network for TNFRSF11A
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0001503 | ossification | IEA | -- |
| 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 |
Drugs & Compounds for TNFRSF11A Gene
| 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) | 197 | |
| Acetaminophen | Approved | Pharma | 1285 | |||
| Aspirin | Approved, Vet_approved | Pharma | Channel blocker | 1440 | ||
| Diclofenac | Approved, Vet_approved | Pharma | Channel blocker, Antagonist, Inhibition, Inhibitor | 405 | ||
| Risperidone | Approved, Investigational | Pharma | Antagonist, Inverse agonist | SR-2A inhibitor | 528 |
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs |
|---|
Drug Products
- G Biosciences Human RANK/TNFRSF11A/CD265, Lyophilized
- RayBiotech Recombinant Human RANK/TNFRSF11A
Transcripts for TNFRSF11A Gene
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 :
-
- ENST00000269485 3591 bps (ENST00000269485.11)
- ENST00000586569 8148 bps (ENST00000586569.3)
- ENST00000587697 528 bps (ENST00000587697.1)
- ENST00000592013 575 bps (ENST00000592013.1)
- ENST00000616710 3809 bps (ENST00000616710.4)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for TNFRSF11A - Select products 50% OFF >
- * TNFRSF11A CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for TNFRSF11A
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for TNFRSF11A
- genomics-online: gRNA clones - Search for available TNFRSF11A gRNA products
- Overview of 108 available TNFRSF11A gene related products
-
Santa Cruz Biotechnology (SCBT) CRISPR for TNFRSF11A
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for TNFRSF11A
- Browse OriGene Inhibitory RNA Products For TNFRSF11A
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TNFRSF11A
- genomics-online: shRNA clones - Search for available TNFRSF11A shRNA products
- Overview of 108 available TNFRSF11A gene related products
Clone Products
- Applied Biological Materials (abm): Clones for TNFRSF11A - Select products 50% OFF >
- * TNFRSF11A as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for TNFRSF11A
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for TNFRSF11A
| 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
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Brain (Nervous System)
- Adult Endothelial Cells Blood Brain Barrier
- Hippocampus
- Cerebellum
- Cerebral Cortex
- Lateral Ventricle
-
Blood (Hematopoietic System)
- Osteoclast Precursor Cells Hematopoietic Bone Marrow
-
Bone (Muscoskeletal System)
- Osteoclast Precursor Cells Hematopoietic Bone Marrow
-
Testis (Reproductive System)
- Leydig Cells Testis Interstitium
-
Endothelium (Cardiovascular System)
- Adult Endothelial Cells Blood Brain Barrier
- Intestine (Gastrointestinal Tract)
- Ovary (Reproductive System)
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.204044mRNA 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
- Blood(4.4)
- Nervous system(4.4)
- Lymph node(4.3)
- Spleen(4.3)
- Bone(3.2)
- Bone marrow(2.3)
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
Primer Products
-
OriGene qPCR primer pairs for TNFRSF11A
- genomics-online: primer clones - Search for available TNFRSF11A Primer products
- Overview of 108 available TNFRSF11A gene related products
Gene Expression Assay Products
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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | TNFRSF11A 31 30 |
|
OneToOne | |
| dog (Canis familiaris) |
Mammalia | TNFRSF11A 31 30 |
|
OneToOne | |
| mouse (Mus musculus) |
Mammalia | Tnfrsf11a 17 31 30 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Tnfrsf11a 30 |
|
||
| cow (Bos Taurus) |
Mammalia | TNFRSF11A 31 30 |
|
OneToOne | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | TNFRSF11A 31 |
|
OneToOne | |
| oppossum (Monodelphis domestica) |
Mammalia | TNFRSF11A 31 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | TNFRSF11A 31 30 |
|
OneToOne | |
| lizard (Anolis carolinensis) |
Reptilia | TNFRSF11A 31 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | tnfrsf11a 30 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | CT573348.1 31 |
|
OneToOne |
- Species where no ortholog for TNFRSF11A was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Ashbya 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 squirt (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
Variants for TNFRSF11A Gene
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 |
|---|---|---|---|---|---|
| 707966 | Benign: not provided | 62,369,298(+) | G/A | MISSENSE_VARIANT,INTRON_VARIANT | |
| 713429 | Likely Benign: not provided | 62,369,196(+) | G/A | MISSENSE_VARIANT,INTRON_VARIANT | |
| 723454 | Likely Benign: not provided | 62,369,396(+) | C/T | SYNONYMOUS_VARIANT,INTRON_VARIANT | |
| 724616 | Likely Benign: not provided | 62,359,958(+) | T/C | SYNONYMOUS_VARIANT | |
| 736550 | Likely Benign: not provided | 62,349,946(+) | G/A | INTRON_VARIANT |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| nsv1055910 | CNV | gain | 25217958 |
| nsv577086 | CNV | loss | 21841781 |
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
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TNFRSF11A Gene
Disorders for TNFRSF11A Gene
(37) MalaCards diseases for TNFRSF11A Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| osteopetrosis, autosomal recessive 7 |
|
|
| familial expansile osteolysis |
|
|
| paget disease of bone 2, early-onset |
|
|
| paget's disease of bone |
|
|
| paget disease of bone 5, juvenile-onset |
|
Search TNFRSF11A in MalaCards
View complete list of genes associated with diseases
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 mutations 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 mutations 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 mutations affecting the gene represented in this entry.
Additional Disease Information for TNFRSF11A
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
No data available for Genatlas for TNFRSF11A Gene
Publications for TNFRSF11A Gene
- 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 54
- 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 54
- 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 54
- 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 54
- Associations between HLA-DRB1, RANK, RANKL, OPG, and IL-17 genotypes and disease severity phenotypes in Japanese patients with early rheumatoid arthritis. (PMID: 17876645) Furuya T … Kotake S (Clinical rheumatology 2007) 3 23 41 54
Products for TNFRSF11A Gene
- View all 18 R&D Systems TNFRSF11A (RANK/TNFRSF11A) Products
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Sources for TNFRSF11A Gene
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