Search for a gene
TNFRSF11A - TNF receptor superfamily member 11a
- Synonym(s) : CD265, familial expansile osteolysis, FEO, ODFR, osteoclast differentiation factor receptor, RANK, receptor activator of nuclear factor kappa B, TRANCE-R, TRANCE receptor
- Previous symbols and names : LOH18CR1, PDB2, Paget disease of bone 2, loss of heterozygosity, 18, chromosomal region 1, tumor necrosis factor receptor superfamily, member 11a, NFKB activator, tumor necrosis factor receptor superfamily, member 11a, activator of NFKB
- Type : gene with protein product
- Chromosomal location : 18q21.33
- OMIM: 603499
- HGNC: 11908
- UniProtKB: Q9Y6Q6
- Genatlas: TNFRSF11A
- GenCC: TNFRSF11A
- Ensembl: ENSG00000141655
- IUPHAR-DB: 1881
- Reactome: Q9Y6Q6
- LOVD: TNFRSF11A
Diseases list
- Disease-causing germline mutation(s) in Dysosteosclerosis
ORPHA:1782 
- Disease-causing germline mutation(s) in Familial expansile osteolysis
ORPHA:85195 - Disease-causing germline mutation(s) in NON RARE IN EUROPE: Paget disease of bone
ORPHA:280110 - Disease-causing germline mutation(s) in Osteopetrosis-hypogammaglobulinemia syndrome
ORPHA:178389 - Major susceptibility factor in Adult-onset myasthenia gravis
ORPHA:391490 - Candidate gene tested in Juvenile Paget disease
ORPHA:2801
: AssessedAdditional information
Patient-centred resources for this gene
Research activities on this gene
Specialised Social Services
The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.
Orphanet is part of the Gene Curation Coalition, a global effort to harmonise gene-level resources.