TNFRSF11A

Function

Receptor for TNFSF11/RANKL/TRANCE/OPGL; essential for RANKL-mediated osteoclastogenesis (PubMed:9878548). Its interaction with EEIG1 promotes osteoclastogenesis via facilitating the transcription of NFATC1 and activation of PLCG2 (By similarity). Involved in the regulation of interactions between T-cells and dendritic cells (By similarity).

Involvement in disease

Familial expansile osteolysis

FEO

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.

None

The disease is caused by variants affecting the gene represented in this entry.

Paget disease of bone 2, early-onset

PDB2

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.

None

The disease is caused by variants affecting the gene represented in this entry.

Osteopetrosis, autosomal recessive 7

OPTB7

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.

None

The disease is caused by variants affecting the gene represented in this entry.

Tissue Specificity

Ubiquitous expression with high levels in skeletal muscle, thymus, liver, colon, small intestine and adrenal gland.

Cellular localization

• Isoform 1
• Cell membrane
• Single-pass type I membrane protein
• Membrane raft
• Isoform RANK-e5a
• Cell membrane
• Single-pass type I membrane protein

Alternative names

CD265, RANK, TNFRSF11A, Tumor necrosis factor receptor superfamily member 11A, Osteoclast differentiation factor receptor, Receptor activator of NF-KB, ODFR

Database links

swissprot:Q9Y6Q6 omim:603499 entrezGene:8792

Other research areas

• Neuroscience