TNFRSF11A

Chr 18

TNF receptor superfamily member 11a

Also known as: CD265, FEO, LOH18CR1, ODFR, OFE, OPTB7, OSTS, PDB2

NCBI Gene: 8792 ENSG00000141655 UniProt: Q9Y6Q6

The encoded protein is a TNF receptor superfamily member that serves as the receptor for RANKL and is essential for osteoclast formation and bone remodeling. Mutations cause bone disorders with both autosomal dominant and autosomal recessive inheritance patterns, including early-onset Paget disease, familial expansile osteolysis, and osteopetrosis. The gene shows moderate constraint against loss-of-function variants (LOEUF 0.597), and the associated bone diseases can present in childhood.

ResearchSummary from RefSeq, OMIM, UniProt

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]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtFamilial expansile osteolysis

UniProtPaget disease of bone 2, early-onset

UniProtOsteopetrosis, autosomal recessive 7

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.60

LOEUF

Multiple*

Mechanism· predicted

Some data sources returned errors (1)

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