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TNFRSF11B

Chr 8q24.12

TNF receptor superfamily member 11b

Aliases:
OCIF, TR1
MANE:
ENST00000297350.9

Annotations refreshed 9 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • Skeletal dysplasia

    BIALLELIC, autosomal or pseudoautosomal
  • Fetal anomalies

    BIALLELIC, autosomal or pseudoautosomal
  • Monogenic hearing loss

Disease associations (Open Targets)

  • juvenile Paget disease

    0.70
  • osteoporosis

    0.47
  • hypothyroidism

    0.47
  • myxedema

    0.38
  • nasal cavity polyp

    0.37
  • bone fracture

    0.34
  • bone disorder

    0.32
  • autoimmune disease

    0.30
  • thyroid gland disorder

    0.27
  • Hashimoto thyroiditis

    0.26

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Tumor necrosis factor receptor superfamily member 11B

Acts as a decoy receptor for TNFSF11/RANKL and thereby neutralizes its function in osteoclastogenesis. Inhibits the activation of osteoclasts and promotes osteoclast apoptosis in vitro. Bone homeostasis seems to depend on the local ratio between TNFSF11 and TNFRSF11B. May also play a role in preventing arterial calcification. May act as decoy receptor for TNFSF10/TRAIL and protect against apoptosis. TNFSF10/TRAIL binding blocks the inhibition of osteoclastogenesis

Data sources: HGNC (CC BY 4.0), AlphaFold (CC BY 4.0, Jumper et al. Nature 2021), Genomics England PanelApp (CC BY 4.0), ClinGen, Open Targets (CC0), UniProt.

Not for sole clinical decision-making. Always verify against primary sources.