TNFRSF11A Chromosome 18
TNF receptor superfamily member 11a
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What This Gene Does
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]
Gene Info
Gene Group
"CD molecules|Tumor necrosis factor receptor superfamily"
Locus Type
gene with protein product
Location
18q21.33
Ensembl
ENSG00000141655
Associated Conditions (10)
Paget disease of bone 2
early-onset
Autosomal recessive osteopetrosis 7
TNFRSF11A-related disorder
Inborn genetic diseases
Familial expansile osteolysis
Thyroid cancer
nonmedullary
1
Familial cancer of breast
Key Variants
RS1274703528
Conflicting classifications of pathogenicity
Health Risk
RS1320012238
Conflicting classifications of pathogenicity
Health Risk
RS138204772
Conflicting classifications of pathogenicity
Paget disease of bone 2, early-onset, Autosomal recessive osteopetrosis 7
Health Risk
RS145242277
Conflicting classifications of pathogenicity
Autosomal recessive osteopetrosis 7, Paget disease of bone 2, early-onset
Health Risk
RS147189162
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS148185533
Conflicting classifications of pathogenicity
Paget disease of bone 2, early-onset, Familial expansile osteolysis
Health Risk
RS149317524
Conflicting classifications of pathogenicity
Health Risk
RS149842577
Conflicting classifications of pathogenicity
Autosomal recessive osteopetrosis 7, Paget disease of bone 2, early-onset
Health Risk
RS1909551923
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS200952751
Conflicting classifications of pathogenicity
Autosomal recessive osteopetrosis 7, Paget disease of bone 2, early-onset
Health Risk
RS201402594
Conflicting classifications of pathogenicity
Paget disease of bone 2, early-onset, Autosomal recessive osteopetrosis 7
Health Risk
RS34966542
Conflicting classifications of pathogenicity
Autosomal recessive osteopetrosis 7, Paget disease of bone 2, early-onset
Health Risk
All Variants (56)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2511575841 | Health Risk | Pathogenic | — |
| RS2511591727 | Health Risk | Pathogenic | — |
| RS2511593094 | Health Risk | Pathogenic | — |
| RS796051862 | Health Risk | Pathogenic | Paget disease of bone 2, early-onset, Paget disease of bone 2 |
| RS886037749 | Health Risk | Pathogenic | Familial expansile osteolysis, Paget disease of bone 2, early-onset |
| RS932936700 | Health Risk | Pathogenic | — |