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Tumor necrosis factor receptor superfamily member 11A (Osteoclast differentiation factor receptor) (ODFR) (Receptor activator of NF-KB) (CD antigen CD265)

 TNR11_HUMAN             Reviewed;         616 AA.
Q9Y6Q6; I4EC36; I4EC38; I4EC39; I7JE63; N0GVH0; Q59EP9;
26-SEP-2001, integrated into UniProtKB/Swiss-Prot.
01-NOV-1999, sequence version 1.
02-JUN-2021, entry version 181.
RecName: Full=Tumor necrosis factor receptor superfamily member 11A;
AltName: Full=Osteoclast differentiation factor receptor;
Short=ODFR;
AltName: Full=Receptor activator of NF-KB;
AltName: CD_antigen=CD265;
Flags: Precursor;
Name=TNFRSF11A; Synonyms=RANK;
Homo sapiens (Human).
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
Homo.
NCBI_TaxID=9606;
[1]
NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
TISSUE=Dendritic cell;
PubMed=9367155; DOI=10.1038/36593;
Anderson D.M., Maraskovsky E., Billingsley W.L., Dougall W.C.,
Tometsko M.E., Roux E.R., Teepe M.C., DuBose R.F., Cosman D., Galibert L.;
"A homologue of the TNF receptor and its ligand enhance T-cell growth and
dendritic-cell function.";
Nature 390:175-179(1997).
[2]
NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM RANK-E5A), SUBCELLULAR LOCATION
(ISOFORMS 1 AND RANK-E5A), AND ALTERNATIVE SPLICING.
TISSUE=Blood;
PubMed=23664977; DOI=10.1016/j.gene.2013.04.075;
Sirinian C., Papanastasiou A.D., Zarkadis I.K., Kalofonos H.P.;
"Alternative splicing generates a truncated isoform of human TNFRSF11A
(RANK) with an altered capacity to activate NF-kappaB.";
Gene 525:124-129(2013).
[3]
NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 2; 3 AND 4), NUCLEOTIDE SEQUENCE
[MRNA] OF 159-523 (ISOFORM 5), AND ALTERNATIVE SPLICING.
TISSUE=Blood;
Papanastasiou A.D., Sirinian C., Kalofonos H.P.;
"Alternative splicing generates multiple human TNFRSF11A (RANK) isoforms.";
Submitted (JUN-2012) to the EMBL/GenBank/DDBJ databases.
[4]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
TISSUE=Brain;
Totoki Y., Toyoda A., Takeda T., Sakaki Y., Tanaka A., Yokoyama S.,
Ohara O., Nagase T., Kikuno R.F.;
"Homo sapiens protein coding cDNA.";
Submitted (MAR-2005) to the EMBL/GenBank/DDBJ databases.
[5]
FUNCTION.
PubMed=9878548; DOI=10.1006/bbrc.1998.9788;
Nakagawa N., Kinosaki M., Yamaguchi K., Shima N., Yasuda H., Yano K.,
Morinaga T., Higashio K.;
"RANK is the essential signaling receptor for osteoclast differentiation
factor in osteoclastogenesis.";
Biochem. Biophys. Res. Commun. 253:395-400(1998).
[6]
INTERACTION WITH TRAF1; TRAF2; TRAF3; TRAF5 AND TRAF6.
PubMed=9774460; DOI=10.1074/jbc.273.43.28355;
Wong B.R., Josien R., Lee S.Y., Vologodskaia M., Steinman R.M., Choi Y.;
"The TRAF family of signal transducers mediates NF-kappaB activation by the
TRANCE receptor.";
J. Biol. Chem. 273:28355-28359(1998).
[7]
INTERACTION WITH GAB2.
PubMed=15750601; DOI=10.1038/nm1203;
Wada T., Nakashima T., Oliveira-dos-Santos A.J., Gasser J., Hara H.,
Schett G., Penninger J.M.;
"The molecular scaffold Gab2 is a crucial component of RANK signaling and
osteoclastogenesis.";
Nat. Med. 11:394-399(2005).
[8]
IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
TISSUE=Cervix carcinoma;
PubMed=18669648; DOI=10.1073/pnas.0805139105;
Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E.,
Elledge S.J., Gygi S.P.;
"A quantitative atlas of mitotic phosphorylation.";
Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008).
[9]
PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-580, AND IDENTIFICATION BY
MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
TISSUE=Cervix carcinoma;
PubMed=23186163; DOI=10.1021/pr300630k;
Zhou H., Di Palma S., Preisinger C., Peng M., Polat A.N., Heck A.J.,
Mohammed S.;
"Toward a comprehensive characterization of a human cancer cell
phosphoproteome.";
J. Proteome Res. 12:260-271(2013).
[10]
VARIANT FEO LEU-LEU-CYS-ALA-LEU-LEU-21 INS, VARIANT PDB2
ALA-LEU-LEU-LEU-LEU-CYS-ALA-LEU-LEU-21 INS, AND VARIANT VAL-192.
PubMed=10615125; DOI=10.1038/71667;
Hughes A.E., Ralston S.H., Marken J., Bell C., MacPherson H.,
Wallace R.G.H., van Hul W., Whyte M.P., Nakatsuka K., Hovy L.,
Anderson D.M.;
"Mutations in TNFRSF11A, affecting the signal peptide of RANK, cause
familial expansile osteolysis.";
Nat. Genet. 24:45-48(2000).
[11]
VARIANTS OPTB7 ARG-53; CYS-129; GLY-170; ARG-175 AND SER-244.
PubMed=18606301; DOI=10.1016/j.ajhg.2008.06.015;
Guerrini M.M., Sobacchi C., Cassani B., Abinun M., Kilic S.S.,
Pangrazio A., Moratto D., Mazzolari E., Clayton-Smith J., Orchard P.,
Coxon F.P., Helfrich M.H., Crockett J.C., Mellis D., Vellodi A., Tezcan I.,
Notarangelo L.D., Rogers M.J., Vezzoni P., Villa A., Frattini A.;
"Human osteoclast-poor osteopetrosis with hypogammaglobulinemia due to
TNFRSF11A (RANK) mutations.";
Am. J. Hum. Genet. 83:64-76(2008).
-!- FUNCTION: Receptor for TNFSF11/RANKL/TRANCE/OPGL; essential for RANKL-
mediated osteoclastogenesis. Involved in the regulation of interactions
between T-cells and dendritic cells. {ECO:0000269|PubMed:9878548}.
-!- SUBUNIT: Binds to the clefts between the subunits of the TNFSF11 ligand
trimer to form a heterohexamer (By similarity). Interacts with TRAF1,
TRAF2, TRAF3, TRAF5 and TRAF6. Interacts (via cytoplasmic domain) with
GAB2. {ECO:0000250, ECO:0000269|PubMed:15750601,
ECO:0000269|PubMed:9774460}.
-!- INTERACTION:
Q9Y6Q6; PRO_0000034515 [O14788]: TNFSF11; NbExp=9; IntAct=EBI-525675, EBI-15488409;
Q9Y6Q6; Q12933: TRAF2; NbExp=2; IntAct=EBI-525675, EBI-355744;
Q9Y6Q6-2; P00533: EGFR; NbExp=3; IntAct=EBI-20899422, EBI-297353;
Q9Y6Q6-2; Q12933: TRAF2; NbExp=5; IntAct=EBI-20899422, EBI-355744;
-!- SUBCELLULAR LOCATION: [Isoform 1]: Cell membrane
{ECO:0000269|PubMed:23664977}; Single-pass type I membrane protein
{ECO:0000269|PubMed:23664977}.
-!- SUBCELLULAR LOCATION: [Isoform RANK-e5a]: Cell membrane
{ECO:0000269|PubMed:23664977}; Single-pass type I membrane protein
{ECO:0000269|PubMed:23664977}.
-!- ALTERNATIVE PRODUCTS:
Event=Alternative splicing; Named isoforms=6;
Name=1;
IsoId=Q9Y6Q6-1; Sequence=Displayed;
Name=2; Synonyms=delta7,8,9;
IsoId=Q9Y6Q6-2; Sequence=VSP_046901;
Name=3; Synonyms=delta8,9;
IsoId=Q9Y6Q6-3; Sequence=VSP_054180;
Name=4; Synonyms=delta9;
IsoId=Q9Y6Q6-4; Sequence=VSP_054181, VSP_054182;
Name=5; Synonyms=exon9a;
IsoId=Q9Y6Q6-5; Sequence=VSP_054183;
Name=RANK-e5a;
IsoId=Q9Y6Q6-6; Sequence=VSP_054179;
-!- TISSUE SPECIFICITY: Ubiquitous expression with high levels in skeletal
muscle, thymus, liver, colon, small intestine and adrenal gland.
-!- 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.
-!- MISCELLANEOUS: [Isoform RANK-e5a]: Reduced ability to bind RANKL and to
activate NF-kappaB as compared to isoform 1. {ECO:0000305}.
-!- SEQUENCE CAUTION:
Sequence=BAD92999.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};
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EMBL; AF018253; AAB86809.1; -; mRNA.
EMBL; HF584702; CCQ44072.1; -; mRNA.
EMBL; HE647782; CCF23032.1; -; mRNA.
EMBL; HE649916; CCF55033.1; -; mRNA.
EMBL; HE649917; CCF55034.1; -; mRNA.
EMBL; HE659518; CCF77738.1; -; mRNA.
EMBL; AB209762; BAD92999.1; ALT_INIT; mRNA.
CCDS; CCDS11980.1; -. [Q9Y6Q6-1]
CCDS; CCDS59324.1; -. [Q9Y6Q6-2]
CCDS; CCDS74227.1; -. [Q9Y6Q6-4]
CCDS; CCDS74228.1; -. [Q9Y6Q6-3]
RefSeq; NP_001257878.1; NM_001270949.1. [Q9Y6Q6-4]
RefSeq; NP_001257879.1; NM_001270950.1. [Q9Y6Q6-3]
RefSeq; NP_001257880.1; NM_001270951.1. [Q9Y6Q6-2]
RefSeq; NP_001265197.1; NM_001278268.1. [Q9Y6Q6-6]
RefSeq; NP_003830.1; NM_003839.3. [Q9Y6Q6-1]
PDB; 1LB5; X-ray; 2.40 A; B=342-349.
PDBsum; 1LB5; -.
SMR; Q9Y6Q6; -.
BioGRID; 114320; 14.
CORUM; Q9Y6Q6; -.
ELM; Q9Y6Q6; -.
IntAct; Q9Y6Q6; 7.
MINT; Q9Y6Q6; -.
STRING; 9606.ENSP00000465500; -.
DrugBank; DB05959; ENMD-1198.
GlyGen; Q9Y6Q6; 2 sites.
iPTMnet; Q9Y6Q6; -.
PhosphoSitePlus; Q9Y6Q6; -.
BioMuta; TNFRSF11A; -.
DMDM; 19924309; -.
jPOST; Q9Y6Q6; -.
MassIVE; Q9Y6Q6; -.
PaxDb; Q9Y6Q6; -.
PeptideAtlas; Q9Y6Q6; -.
PRIDE; Q9Y6Q6; -.
ProteomicsDB; 86765; -. [Q9Y6Q6-1]
Antibodypedia; 4165; 788 antibodies.
DNASU; 8792; -.
Ensembl; ENST00000269485; ENSP00000269485; ENSG00000141655. [Q9Y6Q6-2]
Ensembl; ENST00000586569; ENSP00000465500; ENSG00000141655. [Q9Y6Q6-1]
Ensembl; ENST00000616710; ENSP00000479567; ENSG00000141655. [Q9Y6Q6-4]
Ensembl; ENST00000617039; ENSP00000482466; ENSG00000141655. [Q9Y6Q6-3]
GeneID; 8792; -.
KEGG; hsa:8792; -.
UCSC; uc002lin.5; human. [Q9Y6Q6-1]
CTD; 8792; -.
DisGeNET; 8792; -.
GeneCards; TNFRSF11A; -.
HGNC; HGNC:11908; TNFRSF11A.
HPA; ENSG00000141655; Tissue enhanced (gallbladder, intestine, salivary gland).
MalaCards; TNFRSF11A; -.
MIM; 174810; phenotype.
MIM; 602080; phenotype.
MIM; 603499; gene.
MIM; 612301; phenotype.
neXtProt; NX_Q9Y6Q6; -.
OpenTargets; ENSG00000141655; -.
Orphanet; 391490; Adult-onset myasthenia gravis.
Orphanet; 1782; Dysosteosclerosis.
Orphanet; 85195; Familial expansile osteolysis.
Orphanet; 2801; Juvenile Paget disease.
Orphanet; 280110; NON RARE IN EUROPE: Paget disease of bone.
Orphanet; 178389; Osteopetrosis-hypogammaglobulinemia syndrome.
PharmGKB; PA36601; -.
VEuPathDB; HostDB:ENSG00000141655.15; -.
eggNOG; ENOG502RWJI; Eukaryota.
GeneTree; ENSGT00940000161211; -.
HOGENOM; CLU_052667_2_0_1; -.
InParanoid; Q9Y6Q6; -.
OMA; FRGWITC; -.
OrthoDB; 1038336at2759; -.
PhylomeDB; Q9Y6Q6; -.
PathwayCommons; Q9Y6Q6; -.
Reactome; R-HSA-5668541; TNFR2 non-canonical NF-kB pathway.
Reactome; R-HSA-5676594; TNF receptor superfamily (TNFSF) members mediating non-canonical NF-kB pathway.
SignaLink; Q9Y6Q6; -.
SIGNOR; Q9Y6Q6; -.
BioGRID-ORCS; 8792; 2 hits in 989 CRISPR screens.
ChiTaRS; TNFRSF11A; human.
GeneWiki; RANK; -.
GenomeRNAi; 8792; -.
Pharos; Q9Y6Q6; Tbio.
PRO; PR:Q9Y6Q6; -.
Proteomes; UP000005640; Chromosome 18.
RNAct; Q9Y6Q6; protein.
Bgee; ENSG00000141655; Expressed in parotid gland and 170 other tissues.
ExpressionAtlas; Q9Y6Q6; baseline and differential.
Genevisible; Q9Y6Q6; HS.
GO; GO:0005829; C:cytosol; IDA:HPA.
GO; GO:0009897; C:external side of plasma membrane; IDA:BHF-UCL.
GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
GO; GO:0005886; C:plasma membrane; IDA:HPA.
GO; GO:0019955; F:cytokine binding; IPI:BHF-UCL.
GO; GO:0046872; F:metal ion binding; IEA:UniProtKB-KW.
GO; GO:0038023; F:signaling receptor activity; TAS:ProtInc.
GO; GO:0004888; F:transmembrane signaling receptor activity; IDA:BHF-UCL.
GO; GO:0005031; F:tumor necrosis factor-activated receptor activity; ISS:BHF-UCL.
GO; GO:0002250; P:adaptive immune response; IMP:BHF-UCL.
GO; GO:0007267; P:cell-cell signaling; TAS:ProtInc.
GO; GO:0060086; P:circadian temperature homeostasis; ISS:BHF-UCL.
GO; GO:0048535; P:lymph node development; IBA:GO_Central.
GO; GO:0060749; P:mammary gland alveolus development; IBA:GO_Central.
GO; GO:0002548; P:monocyte chemotaxis; NAS:BHF-UCL.
GO; GO:0072674; P:multinuclear osteoclast differentiation; IBA:GO_Central.
GO; GO:0001503; P:ossification; IBA:GO_Central.
GO; GO:0030316; P:osteoclast differentiation; IMP:BHF-UCL.
GO; GO:0045780; P:positive regulation of bone resorption; IBA:GO_Central.
GO; GO:0008284; P:positive regulation of cell population proliferation; TAS:ProtInc.
GO; GO:0051091; P:positive regulation of DNA-binding transcription factor activity; IDA:BHF-UCL.
GO; GO:0071848; P:positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling; IMP:BHF-UCL.
GO; GO:0071812; P:positive regulation of fever generation by positive regulation of prostaglandin secretion; ISS:BHF-UCL.
GO; GO:0043507; P:positive regulation of JUN kinase activity; IMP:BHF-UCL.
GO; GO:0051092; P:positive regulation of NF-kappaB transcription factor activity; IDA:BHF-UCL.
GO; GO:0034097; P:response to cytokine; IMP:BHF-UCL.
GO; GO:0070555; P:response to interleukin-1; ISS:BHF-UCL.
GO; GO:0032496; P:response to lipopolysaccharide; ISS:BHF-UCL.
GO; GO:0009314; P:response to radiation; IEA:Ensembl.
GO; GO:0034612; P:response to tumor necrosis factor; ISS:BHF-UCL.
GO; GO:0007165; P:signal transduction; TAS:ProtInc.
GO; GO:0071847; P:TNFSF11-mediated signaling pathway; IMP:BHF-UCL.
GO; GO:0033209; P:tumor necrosis factor-mediated signaling pathway; ISS:BHF-UCL.
CDD; cd13411; TNFRSF11A; 1.
InterPro; IPR041648; RANK_CRD_2.
InterPro; IPR001368; TNFR/NGFR_Cys_rich_reg.
InterPro; IPR022323; TNFR_11.
InterPro; IPR022361; TNFR_11A.
InterPro; IPR034040; TNFRSF11A_N.
Pfam; PF18278; RANK_CRD_2; 1.
Pfam; PF00020; TNFR_c6; 1.
PRINTS; PR01961; TNFACTORR11.
PRINTS; PR01974; TNFACTORR11A.
SMART; SM00208; TNFR; 4.
PROSITE; PS00652; TNFR_NGFR_1; 1.
PROSITE; PS50050; TNFR_NGFR_2; 1.
1: Evidence at protein level;
3D-structure; Alternative splicing; Cell membrane; Deafness;
Disease variant; Disulfide bond; Glycoprotein; Membrane; Metal-binding;
Osteopetrosis; Phosphoprotein; Receptor; Reference proteome; Repeat;
Signal; Sodium; Transmembrane; Transmembrane helix.
SIGNAL 1..29
/evidence="ECO:0000255"
CHAIN 30..616
/note="Tumor necrosis factor receptor superfamily member
11A"
/id="PRO_0000034585"
TOPO_DOM 30..212
/note="Extracellular"
/evidence="ECO:0000255"
TRANSMEM 213..233
/note="Helical"
/evidence="ECO:0000255"
TOPO_DOM 234..616
/note="Cytoplasmic"
/evidence="ECO:0000255"
REPEAT 34..68
/note="TNFR-Cys 1"
REPEAT 71..112
/note="TNFR-Cys 2"
REPEAT 114..151
/note="TNFR-Cys 3"
REPEAT 154..194
/note="TNFR-Cys 4"
REGION 468..536
/note="Disordered"
/evidence="ECO:0000256|SAM:MobiDB-lite"
REGION 556..616
/note="Disordered"
/evidence="ECO:0000256|SAM:MobiDB-lite"
COMPBIAS 483..497
/note="Basic and acidic residues"
/evidence="ECO:0000256|SAM:MobiDB-lite"
COMPBIAS 507..536
/note="Polar residues"
/evidence="ECO:0000256|SAM:MobiDB-lite"
METAL 133
/note="Sodium; via carbonyl oxygen"
/evidence="ECO:0000250"
METAL 134
/note="Sodium; via carbonyl oxygen"
/evidence="ECO:0000250"
METAL 160
/note="Sodium; via carbonyl oxygen"
/evidence="ECO:0000250"
MOD_RES 580
/note="Phosphoserine"
/evidence="ECO:0007744|PubMed:23186163"
CARBOHYD 105
/note="N-linked (GlcNAc...) asparagine"
/evidence="ECO:0000255"
CARBOHYD 174
/note="N-linked (GlcNAc...) asparagine"
/evidence="ECO:0000255"
DISULFID 34..46
/evidence="ECO:0000255|PROSITE-ProRule:PRU00206"
DISULFID 47..60
/evidence="ECO:0000255|PROSITE-ProRule:PRU00206"
DISULFID 50..68
/evidence="ECO:0000255|PROSITE-ProRule:PRU00206"
DISULFID 71..86
/evidence="ECO:0000255|PROSITE-ProRule:PRU00206"
DISULFID 92..112
/evidence="ECO:0000255|PROSITE-ProRule:PRU00206"
DISULFID 114..127
/evidence="ECO:0000255|PROSITE-ProRule:PRU00206"
DISULFID 124..126
/evidence="ECO:0000255|PROSITE-ProRule:PRU00206"
DISULFID 133..151
/evidence="ECO:0000255|PROSITE-ProRule:PRU00206"
DISULFID 154..169
/evidence="ECO:0000255|PROSITE-ProRule:PRU00206"
DISULFID 175..194
/evidence="ECO:0000255|PROSITE-ProRule:PRU00206"
VAR_SEQ 143..157
/note="LQLNKDTVCKPCLAG -> C (in isoform RANK-e5a)"
/evidence="ECO:0000303|PubMed:23664977"
/id="VSP_054179"
VAR_SEQ 206..522
/note="Missing (in isoform 2)"
/evidence="ECO:0000303|Ref.3, ECO:0000303|Ref.4"
/id="VSP_046901"
VAR_SEQ 244..522
/note="Missing (in isoform 3)"
/evidence="ECO:0000303|Ref.3"
/id="VSP_054180"
VAR_SEQ 263
/note="S -> M (in isoform 4)"
/evidence="ECO:0000303|Ref.3"
/id="VSP_054181"
VAR_SEQ 264..616
/note="Missing (in isoform 4)"
/evidence="ECO:0000303|Ref.3"
/id="VSP_054182"
VAR_SEQ 523..616
/note="GNVTGNSNSTFISSGQVMNFKGDIIVVYVSQTSQEGAAAAAEPMGRPVQEET
LARRDSFAGNGPRFPDPCGGPEGLREPEKASRPVQEQGGAKA -> D (in isoform
5)"
/evidence="ECO:0000303|Ref.3"
/id="VSP_054183"
VARIANT 21
/note="L -> LALLLLCALL (in PDB2)"
/evidence="ECO:0000269|PubMed:10615125"
/id="VAR_011516"
VARIANT 21
/note="L -> LLLCALL (in FEO)"
/evidence="ECO:0000269|PubMed:10615125"
/id="VAR_011517"
VARIANT 53
/note="G -> R (in OPTB7; two patients with osteoclast-poor
osteopetrosis; dbSNP:rs121908659)"
/evidence="ECO:0000269|PubMed:18606301"
/id="VAR_046788"
VARIANT 129
/note="R -> C (in OPTB7; a patient with osteoclast-poor
osteopetrosis; dbSNP:rs121908657)"
/evidence="ECO:0000269|PubMed:18606301"
/id="VAR_046789"
VARIANT 141
/note="H -> Y (in dbSNP:rs35211496)"
/id="VAR_046790"
VARIANT 170
/note="R -> G (in OPTB7; two siblings with osteoclast-poor
osteopetrosis; dbSNP:rs121908655)"
/evidence="ECO:0000269|PubMed:18606301"
/id="VAR_046791"
VARIANT 175
/note="C -> R (in OPTB7; two patients with osteoclast-poor
osteopetrosis; dbSNP:rs121908656)"
/evidence="ECO:0000269|PubMed:18606301"
/id="VAR_046792"
VARIANT 192
/note="A -> V (in dbSNP:rs1805034)"
/evidence="ECO:0000269|PubMed:10615125"
/id="VAR_011518"
VARIANT 244
/note="A -> S (in OPTB7; one patient with osteoclast-poor
osteopetrosis; dbSNP:rs121908658)"
/evidence="ECO:0000269|PubMed:18606301"
/id="VAR_046793"
STRAND 345..348
/evidence="ECO:0007829|PDB:1LB5"
SEQUENCE 616 AA; 66034 MW; E3DE9A7A08196F81 CRC64;
MAPRARRRRP LFALLLLCAL LARLQVALQI APPCTSEKHY EHLGRCCNKC EPGKYMSSKC
TTTSDSVCLP CGPDEYLDSW NEEDKCLLHK VCDTGKALVA VVAGNSTTPR RCACTAGYHW
SQDCECCRRN TECAPGLGAQ HPLQLNKDTV CKPCLAGYFS DAFSSTDKCR PWTNCTFLGK
RVEHHGTEKS DAVCSSSLPA RKPPNEPHVY LPGLIILLLF ASVALVAAII FGVCYRKKGK
ALTANLWHWI NEACGRLSGD KESSGDSCVS THTANFGQQG ACEGVLLLTL EEKTFPEDMC
YPDQGGVCQG TCVGGGPYAQ GEDARMLSLV SKTEIEEDSF RQMPTEDEYM DRPSQPTDQL
LFLTEPGSKS TPPFSEPLEV GENDSLSQCF TGTQSTVGSE SCNCTEPLCR TDWTPMSSEN
YLQKEVDSGH CPHWAASPSP NWADVCTGCR NPPGEDCEPL VGSPKRGPLP QCAYGMGLPP
EEEASRTEAR DQPEDGADGR LPSSARAGAG SGSSPGGQSP ASGNVTGNSN STFISSGQVM
NFKGDIIVVY VSQTSQEGAA AAAEPMGRPV QEETLARRDS FAGNGPRFPD PCGGPEGLRE
PEKASRPVQE QGGAKA


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Pathways :
WP927: Signaling of Hepatocyte Growth Factor Receptor
WP1235: Signaling of Hepatocyte Growth Factor Receptor
WP1046: Signaling of Hepatocyte Growth Factor Receptor
WP810: Signaling of Hepatocyte Growth Factor Receptor
WP193: Signaling of Hepatocyte Growth Factor Receptor
WP1162: Signaling of Hepatocyte Growth Factor Receptor
WP1206: Signaling of Hepatocyte Growth Factor Receptor
WP444: Signaling of Hepatocyte Growth Factor Receptor
WP94: Signaling of Hepatocyte Growth Factor Receptor
WP313: Signaling of Hepatocyte Growth Factor Receptor
WP2328: Allograft rejection
WP1183: Toll-like receptor signaling pathway
WP407: Kit Receptor Signaling Pathway
WP1004: Kit Receptor Signaling Pathway
WP1384: Toll-like receptor signaling pathway
WP774: Kit Receptor Signaling Pathway
WP1014: Androgen receptor signaling pathway
WP147: Kit Receptor Signaling Pathway
WP783: Androgen Receptor Signaling Pathway
WP474: Endochondral Ossification
WP996: EPO Receptor Signaling
WP1284: EPO Receptor Signaling
WP566: canonical wnt - zebrafish
WP252: Androgen Receptor Signaling Pathway
WP1121: Kit Receptor Signaling Pathway

Related Genes :
[TNFRSF11A RANK] Tumor necrosis factor receptor superfamily member 11A (Osteoclast differentiation factor receptor) (ODFR) (Receptor activator of NF-KB) (CD antigen CD265)
[Tnfsf11 Opgl Rankl Trance] Tumor necrosis factor ligand superfamily member 11 (Osteoclast differentiation factor) (ODF) (Osteoprotegerin ligand) (OPGL) (Receptor activator of nuclear factor kappa-B ligand) (RANKL) (TNF-related activation-induced cytokine) (TRANCE) (CD antigen CD254) [Cleaved into: Tumor necrosis factor ligand superfamily member 11, membrane form; Tumor necrosis factor ligand superfamily member 11, soluble form]
[TNFSF11 OPGL RANKL TRANCE] Tumor necrosis factor ligand superfamily member 11 (Osteoclast differentiation factor) (ODF) (Osteoprotegerin ligand) (OPGL) (Receptor activator of nuclear factor kappa-B ligand) (RANKL) (TNF-related activation-induced cytokine) (TRANCE) (CD antigen CD254) [Cleaved into: Tumor necrosis factor ligand superfamily member 11, membrane form; Tumor necrosis factor ligand superfamily member 11, soluble form]
[Faslg Apt1Lg1 Cd95l Fasl Tnfsf6] Tumor necrosis factor ligand superfamily member 6 (CD95 ligand) (CD95-L) (Fas antigen ligand) (Fas ligand) (FasL) (CD antigen CD178) [Cleaved into: Tumor necrosis factor ligand superfamily member 6, membrane form; Tumor necrosis factor ligand superfamily member 6, soluble form (Receptor-binding FasL ectodomain) (Soluble Fas ligand) (sFasL); ADAM10-processed FasL form (APL); FasL intracellular domain (FasL ICD) (SPPL2A-processed FasL form) (SPA)]
[CD40 TNFRSF5] Tumor necrosis factor receptor superfamily member 5 (B-cell surface antigen CD40) (Bp50) (CD40L receptor) (CDw40) (CD antigen CD40)
[CD27 TNFRSF7] CD27 antigen (CD27L receptor) (T-cell activation antigen CD27) (T14) (Tumor necrosis factor receptor superfamily member 7) (CD antigen CD27)
[TNFRSF13B TACI] Tumor necrosis factor receptor superfamily member 13B (Transmembrane activator and CAML interactor) (CD antigen CD267)
[TNFRSF14 HVEA HVEM UNQ329/PRO509] Tumor necrosis factor receptor superfamily member 14 (Herpes virus entry mediator A) (Herpesvirus entry mediator A) (HveA) (Tumor necrosis factor receptor-like 2) (TR2) (CD antigen CD270)
[Fas Apt1 Tnfrsf6] Tumor necrosis factor receptor superfamily member 6 (Apo-1 antigen) (Apoptosis-mediating surface antigen FAS) (FASLG receptor) (CD antigen CD95)
[Fas Apt1 Tnfrsf6] Tumor necrosis factor receptor superfamily member 6 (Apo-1 antigen) (Apoptosis-mediating surface antigen FAS) (FASLG receptor) (CD antigen CD95)
[FAS APT1 FAS1 TNFRSF6] Tumor necrosis factor receptor superfamily member 6 (Apo-1 antigen) (Apoptosis-mediating surface antigen FAS) (FASLG receptor) (CD antigen CD95)
[NGFR TNFRSF16] Tumor necrosis factor receptor superfamily member 16 (Gp80-LNGFR) (Low affinity neurotrophin receptor p75NTR) (Low-affinity nerve growth factor receptor) (NGF receptor) (p75 ICD) (CD antigen CD271)
[Tnfrsf14 hvem] Tumor necrosis factor receptor superfamily member 14 (Herpes virus entry mediator A) (Herpesvirus entry mediator A) (HveA) (Tumor necrosis factor receptor-like 2) (TR2) (CD antigen CD270)
[Tnfrsf21 Dr6] Tumor necrosis factor receptor superfamily member 21 (Death receptor 6) (CD antigen CD358)
[FAS APT1 TNFRSF6] Tumor necrosis factor receptor superfamily member 6 (Apo-1 antigen) (Apoptosis-mediating surface antigen FAS) (FASLG receptor) (CD antigen CD95)
[TNFRSF21 DR6 UNQ437/PRO868] Tumor necrosis factor receptor superfamily member 21 (Death receptor 6) (CD antigen CD358)
[CD40LG CD40L TNFSF5 TRAP] CD40 ligand (CD40-L) (T-cell antigen Gp39) (TNF-related activation protein) (TRAP) (Tumor necrosis factor ligand superfamily member 5) (CD antigen CD154) [Cleaved into: CD40 ligand, membrane form; CD40 ligand, soluble form (sCD40L)]
[FAS APT1 TNFRSF6] Tumor necrosis factor receptor superfamily member 6 (Apo-1 antigen) (Apoptosis-mediating surface antigen FAS) (FASLG receptor) (CD antigen CD95)
[TRAF2 TRAP3] TNF receptor-associated factor 2 (EC 2.3.2.27) (E3 ubiquitin-protein ligase TRAF2) (RING-type E3 ubiquitin transferase TRAF2) (Tumor necrosis factor type 2 receptor-associated protein 3)
[TNFRSF11B OCIF OPG] Tumor necrosis factor receptor superfamily member 11B (Osteoclastogenesis inhibitory factor) (Osteoprotegerin)
[TNFRSF17 BCM BCMA] Tumor necrosis factor receptor superfamily member 17 (B-cell maturation protein) (CD antigen CD269)
[TNFSF13B BAFF BLYS TALL1 TNFSF20 ZTNF4 UNQ401/PRO738] Tumor necrosis factor ligand superfamily member 13B (B lymphocyte stimulator) (BLyS) (B-cell-activating factor) (BAFF) (Dendritic cell-derived TNF-like molecule) (TNF- and APOL-related leukocyte expressed ligand 1) (TALL-1) (CD antigen CD257) [Cleaved into: Tumor necrosis factor ligand superfamily member 13b, membrane form; Tumor necrosis factor ligand superfamily member 13b, soluble form]
[EDAR DL] Tumor necrosis factor receptor superfamily member EDAR (Anhidrotic ectodysplasin receptor 1) (Downless homolog) (EDA-A1 receptor) (Ectodermal dysplasia receptor) (Ectodysplasin-A receptor)
[TNF TNFA TNFSF2] Tumor necrosis factor (Cachectin) (TNF-alpha) (Tumor necrosis factor ligand superfamily member 2) (TNF-a) [Cleaved into: Tumor necrosis factor, membrane form (N-terminal fragment) (NTF); Intracellular domain 1 (ICD1); Intracellular domain 2 (ICD2); C-domain 1; C-domain 2; Tumor necrosis factor, soluble form]
[FAS APT1 TNFRSF6] Tumor necrosis factor receptor superfamily member 6 (Apo-1 antigen) (Apoptosis-mediating surface antigen FAS) (FASLG receptor) (CD antigen CD95)
[Edar Dl] Tumor necrosis factor receptor superfamily member EDAR (Anhidrotic ectodysplasin receptor 1) (Downless) (Ectodermal dysplasia receptor) (Ectodysplasin-A receptor)
[TNFSF14 HVEML LIGHT UNQ391/PRO726] Tumor necrosis factor ligand superfamily member 14 (Herpes virus entry mediator ligand) (HVEM-L) (Herpesvirus entry mediator ligand) (CD antigen CD258) [Cleaved into: Tumor necrosis factor ligand superfamily member 14, membrane form; Tumor necrosis factor ligand superfamily member 14, soluble form]
[FAS APT1 TNFRSF6] Tumor necrosis factor receptor superfamily member 6 (Apo-1 antigen) (Apoptosis-mediating surface antigen FAS) (FASLG receptor) (CD antigen CD95)
[Cd40lg Cd40l Tnfsf5] CD40 ligand (CD40-L) (T-cell antigen Gp39) (TNF-related activation protein) (TRAP) (Tumor necrosis factor ligand superfamily member 5) (CD antigen CD154) [Cleaved into: CD40 ligand, membrane form; CD40 ligand, soluble form (sCD40L)]
[Tnf Tnfa Tnfsf2] Tumor necrosis factor (Cachectin) (TNF-alpha) (Tumor necrosis factor ligand superfamily member 2) (TNF-a) [Cleaved into: Tumor necrosis factor, membrane form (N-terminal fragment) (NTF); Intracellular domain 1 (ICD1); Intracellular domain 2 (ICD2); C-domain 1; C-domain 2; Tumor necrosis factor, soluble form]

Bibliography :