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TNFRSF11A

Chr 18q21.33

TNF receptor superfamily member 11a

Aliases:
RANK, CD265, FEO, ODFR, TRANCE-R
MANE:
ENST00000586569.3

Annotations refreshed 1 month ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • COVID-19 research

    BIALLELIC, autosomal or pseudoautosomal
  • Hydrocephalus

    BIALLELIC, autosomal or pseudoautosomal
  • Osteopetrosis

    BOTH monoallelic and biallelic, autosomal or pseudoautosomal
  • Skeletal dysplasia

    BOTH monoallelic and biallelic, autosomal or pseudoautosomal
  • Fetal anomalies

    BIALLELIC, autosomal or pseudoautosomal
  • Primary immunodeficiency or monogenic inflammatory bowel disease

    BIALLELIC, autosomal or pseudoautosomal
  • Childhood solid tumours

  • Osteogenesis imperfecta

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Disease associations (Open Targets)

  • Osteopetrosis - hypogammaglobulinemia

    0.75
  • autosomal recessive osteopetrosis 7

    0.71
  • familial expansile osteolysis

    0.65
  • bone Paget disease

    0.61
  • osteoporosis

    0.53
  • bone disorder

    0.44
  • asthma

    0.44
  • hypothyroidism

    0.44
  • allergic rhinitis

    0.42
  • osteopetrosis

    0.42

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

Protein function (UniProt)

Tumor necrosis factor receptor superfamily member 11A

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)

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.