TNFRSF11A
entrez
8792
canonical
uniprot
Q9Y6Q6
canonical
ensembl
ENSG00000141655
resolver
ensp
ENSP00000269485
resolver
ensp
ENSP00000465500
resolver
ensp
ENSP00000573900
resolver
ensp
ENSP00000573901
resolver
ensp
ENSP00000573903
resolver
genesymbol
TNFRSF11A
resolver
genesymbol_syn
RANK
resolver
hgnc
HGNC:11908
resolver
uniprot
I4EC36
resolver
uniprot
I4EC38
resolver
uniprot
I4EC39
resolver
uniprot
I7JE63
resolver
uniprot
N0GVH0
resolver
uniprot
Q59EP9
resolver
uniprot_entry
TNR11_HUMAN
resolver
uniprot_sec
I4EC36
resolver
uniprot_sec
I4EC38
resolver
uniprot_sec
I4EC39
resolver
uniprot_sec
I7JE63
resolver
uniprot_sec
N0GVH0
resolver
uniprot_sec
Q59EP9
resolver
amino_acid_sequence
MAPRARRRRPLFALLLLCALLARLQVALQIAPPCTSEKHYEHLGRCCNKCEPGKYMSSKCTTTSDSVCLPCGPDEYLDSWNEEDKCLLHKVCDTGKALVAVVAGNSTTPRRCACTAGYHWSQDCECCRRNTECAPGLGAQHPLQLNKDTVCKPCLAGYFSDAFSSTDKCRPWTNCTFLGKRVEHHGTEKSDAVCSSSLPARKPPNEPHVYLPGLIILLLFASVALVAAIIFGVCYRKKGKALTANLWHWINEACGRLSGDKESSGDSCVSTHTANFGQQGACEGVLLLTLEEKTFPEDMCYPDQGGVCQGTCVGGGPYAQGEDARMLSLVSKTEIEEDSFRQMPTEDEYMDRPSQPTDQLLFLTEPGSKSTPPFSEPLEVGENDSLSQCFTGTQSTVGSESCNCTEPLCRTDWTPMSSENYLQKEVDSGHCPHWAASPSPNWADVCTGCRNPPGEDCEPLVGSPKRGPLPQCAYGMGLPPEEEASRTEARDQPEDGADGRLPSSARAGAGSGSSPGGQSPASGNVTGNSNSTFISSGQVMNFKGDIIVVYVSQTSQEGAAAAAEPMGRPVQEETLARRDSFAGNGPRFPDPCGGPEGLREPEKASRPVQEQGGAKA
uniprot
proteins
disease_involvement
DISEASE: Familial expansile osteolysis (FEO) [MIM:174810]: Rare autosomal dominant bone disorder characterized by focal areas of increased bone remodeling. The osteolytic lesions develop usually in the long bones during early adulthood. FEO is often associated with early-onset deafness and loss of dentition. {ECO:0000269|PubMed:10615125}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Paget disease of bone 2, early-onset (PDB2) [MIM:602080]: A form of Paget disease, a disorder of bone remodeling characterized by increased bone turnover affecting one or more sites throughout the skeleton, primarily the axial skeleton. Osteoclastic overactivity followed by compensatory osteoblastic activity leads to a structurally disorganized mosaic of bone (woven bone), which is mechanically weaker, larger, less compact, more vascular, and more susceptible to fracture than normal adult lamellar bone. {ECO:0000269|PubMed:10615125}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Osteopetrosis, autosomal recessive 7 (OPTB7) [MIM:612301]: A rare genetic disease characterized by abnormally dense bone, due to defective resorption of immature bone. Osteopetrosis occurs in two forms: a severe autosomal recessive form occurring in utero, infancy, or childhood, and a benign autosomal dominant form occurring in adolescence or adulthood. Recessive osteopetrosis commonly manifests in early infancy with macrocephaly, feeding difficulties, evolving blindness and deafness, bone marrow failure, severe anemia, and hepatosplenomegaly. Deafness and blindness are generally thought to represent effects of pressure on nerves. OPTB7 is characterized by paucity of osteoclasts, suggesting a molecular defect in osteoclast development. OPTB7 is associated with hypogammaglobulinemia. {ECO:0000269|PubMed:18606301}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: 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). {ECO:0000250|UniProtKB:O35305, ECO:0000269|PubMed:9878548}.
uniprot
proteins
mass_dalton
66034
uniprot
proteins
pubmed
10615125
uniprot
proteins
pubmed
15750601
uniprot
proteins
pubmed
18606301
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
23478294
uniprot
proteins
pubmed
23664977
uniprot
proteins
pubmed
9367155
uniprot
proteins
pubmed
9774460
uniprot
proteins
pubmed
9878548
uniprot
proteins
sequence_length
616
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: [Isoform 1]: Cell membrane {ECO:0000269|PubMed:23664977}; Single-pass type I membrane protein {ECO:0000269|PubMed:23664977}. Membrane raft {ECO:0000250|UniProtKB:O35305}. Note=Following TNFSF11/RANKL stimulation, recruited to lipid rafts along with STAC2. {ECO:0000250|UniProtKB:O35305}.; SUBCELLULAR LOCATION: [Isoform RANK-e5a]: Cell membrane {ECO:0000269|PubMed:23664977}; Single-pass type I membrane protein {ECO:0000269|PubMed:23664977}.
uniprot
proteins
transmembrane_region
TRANSMEM 213..233; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins