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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 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]
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.
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 |
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 | -- |
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 |
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 |
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 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs |
---|
ExUns: | 1a | · | 1b | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10a | · | 10b |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | |||||||||||||||||||||||
SP2: | - | - | - |
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | TNFRSF11A 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | TNFRSF11A 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Tnfrsf11a 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Tnfrsf11a 30 |
|
||
Cow (Bos Taurus) |
Mammalia | TNFRSF11A 30 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | TNFRSF11A 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | TNFRSF11A 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | TNFRSF11A 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | TNFRSF11A 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | tnfrsf11a 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | CT573348.1 31 |
|
OneToOne |
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 |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
nsv1055910 | CNV | gain | 25217958 |
nsv577086 | CNV | loss | 21841781 |
Disorder | Aliases | PubMed IDs |
---|---|---|
osteopetrosis, autosomal recessive 7 |
|
|
familial expansile osteolysis |
|
|
paget disease of bone 2, early-onset |
|
|
dysosteosclerosis |
|
|
paget disease of bone 5, juvenile-onset |
|
|