DEFINITION
Proteins identified as genome-wide-significant through genome-wide association studies (GWASs) are indicated in bold font and with a bold outline. RANK is encoded by tumour necrosis factor receptor superfamily, member 11a (TNFRSF11A), its ligand RANKL is encoded by TNFSF11, and the decoy receptor OPG is encoded by TNFRSF11B. To generate activated osteoclasts, RANKL is secreted by osteoblasts and osteocytes in bone, and these bind to its natural receptor, RANK, on the surface of pre-fusion osteoclasts. To fine-balance this activation system, osteoblasts and osteocytes also secrete OPG, which is a natural decoy receptor for RANKL and prevents binding of RANKL to RANK. *Indicates the relevance of the gene to human monogenic skeletal disease. ‡Indicates genes with evidence arising from mouse knockouts. The figure is adapted, with permission, from Ref
from Genetics of osteoporosis from genome-wide association studies: advances and challenges, 2012
THE GENE
HGNC includes links to
- BioGPS
- GENATLAS
- GeneCards
- GOPubmed
- H-InvDB
- QuickGO
- Reactome
- Wikigenes includes links to
- NCBI
- NCBI SNP
- iHOP resource
- OMIM
- UniProt
- Ensembl
- HGNC
CHEMICAL STRUCTURE AND IMAGES
When relevant for the function
- Primary structure
- Secondary structure
- Tertiary structure
- Quaternary structure
Protein Aminoacids Percentage (Width 700 px)
SYNTHESIS AND TURNOVER
mRNA synthesis
protein synthesis
post-translational modifications
degradation
CELLULAR FUNCTIONS
cellular localization,
biological function
- Cell signaling and Ligand transport
- Structural proteins
REGULATION
DIAGNOSTIC USE
