TNFSF11 (TNF superfamily member 11) - Rat Genome Database

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Gene: TNFSF11 (TNF superfamily member 11) Homo sapiens
Analyze
Symbol: TNFSF11
Name: TNF superfamily member 11
RGD ID: 1347343
HGNC Page HGNC
Description: Enables cytokine activity. Involved in several processes, including positive regulation of MAPK cascade; positive regulation of cell-cell adhesion; and regulation of transcription, DNA-templated. Predicted to be located in extracellular region and plasma membrane. Implicated in autosomal recessive osteopetrosis 2 and osteoporosis. Biomarker of myocardial infarction.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: CD254; hRANKL2; ODF; OPGL; OPTB2; osteoclast differentiation factor; osteoprotegerin ligand; RANKL; receptor activator of nuclear factor kappa B ligand; receptor activator of nuclear factor kappa-B ligand; sOdf; TNF-related activation-induced cytokine; TNLG6B; TRANCE; tumor necrosis factor (ligand) superfamily member 11; tumor necrosis factor (ligand) superfamily, member 11; tumor necrosis factor ligand 6B; tumor necrosis factor ligand superfamily member 11; tumor necrosis factor superfamily member 11
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1342,562,736 - 42,608,013 (+)EnsemblGRCh38hg38GRCh38
GRCh381342,562,736 - 42,608,013 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh371343,136,872 - 43,182,149 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361342,043,795 - 42,080,148 (+)NCBINCBI36hg18NCBI36
Build 341342,043,794 - 42,080,148NCBI
Celera1324,194,611 - 24,239,896 (+)NCBI
Cytogenetic Map13q14.11NCBI
HuRef1323,940,423 - 23,985,716 (+)NCBIHuRef
CHM1_11343,104,338 - 43,149,624 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(-)-anisomycin  (ISO)
(20S)-ginsenoside Rg3  (ISO)
(S)-nicotine  (ISO)
1-methyl-4-phenyl-1,2,3,6-tetrahydropyridine  (ISO)
1-naphthyl isothiocyanate  (ISO)
17beta-estradiol  (ISO)
2,2',4,4'-Tetrabromodiphenyl ether  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,4,6-trinitrobenzenesulfonic acid  (ISO)
2-amino-2-deoxy-D-glucopyranose  (EXP)
2-aminopurine  (ISO)
2-tert-butylhydroquinone  (ISO)
23-epi-26-deoxyactein  (ISO)
3-\{1-[3-(dimethylamino)propyl]-1H-indol-3-yl\}-4-(1H-indol-3-yl)-1H-pyrrole-2,5-dione  (ISO)
4',5,7-trihydroxy-3'-methoxyflavone  (ISO)
4,4'-diaminodiphenylmethane  (ISO)
4-amino-5-chloro-N-[1-[3-(4-fluorophenoxy)propyl]-3-methoxy-4-piperidinyl]-2-methoxybenzamide  (ISO)
4-nitroquinoline N-oxide  (ISO)
5-aza-2'-deoxycytidine  (ISO)
6-propyl-2-thiouracil  (ISO)
acrolein  (ISO)
aflatoxin B1  (EXP)
aldehydo-D-glucosamine  (EXP)
alendronic acid  (EXP,ISO)
all-trans-retinoic acid  (EXP,ISO)
alpha-naphthoflavone  (ISO)
ammonium chloride  (ISO)
amsacrine  (ISO)
anthra[1,9-cd]pyrazol-6(2H)-one  (ISO)
antimycin A  (ISO)
arsane  (EXP)
arsenic atom  (EXP)
arsenite(3-)  (EXP)
arsenous acid  (EXP)
ATP  (ISO)
belinostat  (EXP)
benzamide  (ISO)
benzo[a]pyrene  (EXP)
benzo[e]pyrene  (EXP)
Bergenin  (ISO)
beta-D-glucosamine  (EXP)
betulinic acid  (EXP,ISO)
bisphenol A  (ISO)
bleomycin A2  (ISO)
cadmium atom  (ISO)
cadmium dichloride  (ISO)
calciol  (EXP,ISO)
calcitriol  (EXP,ISO)
calcium atom  (ISO)
calcium(0)  (ISO)
cannabidiol  (ISO)
carbocyclic thromboxane A2  (EXP)
carbon nanotube  (ISO)
chlormequat chloride  (ISO)
chlorpromazine  (ISO)
chondroitin sulfate  (EXP)
chromium(3+) trichloride  (ISO)
cisapride  (ISO)
cobalt dichloride  (ISO)
coenzyme Q10  (ISO)
corticosterone  (ISO)
crocin-1  (ISO)
curcumin  (EXP,ISO)
cycloheximide  (EXP,ISO)
cyclosporin A  (EXP,ISO)
decabromodiphenyl ether  (ISO)
dehydrocostus lactone  (ISO)
desferrioxamine B  (ISO)
dexamethasone  (EXP,ISO)
diarsenic trioxide  (EXP)
dihydro-beta-erythroidine  (ISO)
dimethyl fumarate  (ISO)
dimethylarsinic acid  (EXP)
dioscin  (ISO)
diosgenin  (ISO)
dorsomorphin  (EXP,ISO)
ellagic acid  (ISO)
entinostat  (EXP)
ethanol  (ISO)
etoposide  (ISO)
fluoxetine  (ISO)
folic acid  (ISO)
formaldehyde  (EXP)
fulvestrant  (ISO)
furosemide  (ISO)
gadolinium trichloride  (EXP)
genistein  (ISO)
gentamycin  (ISO)
ginsenoside Rb1  (ISO)
glycerol 2-phosphate  (ISO)
hydrogen peroxide  (EXP,ISO)
hydroquinone  (EXP)
icariin  (ISO)
icariside II  (ISO)
indometacin  (ISO)
iron dextran  (ISO)
kaempferol  (ISO)
KN-93  (ISO)
KT 5720  (ISO)
L-ascorbic acid  (ISO)
lead diacetate  (ISO)
levonorgestrel  (EXP)
lipopolysaccharide  (EXP,ISO)
lithocholic acid  (EXP)
lovastatin  (ISO)
LY294002  (ISO)
mangiferin  (ISO)
menadione  (EXP)
menaquinone  (EXP)
menaquinone-4  (ISO)
methapyrilene  (EXP)
methimazole  (ISO)
methotrexate  (EXP,ISO)
methylglyoxal  (ISO)
methylmercury chloride  (EXP)
mifepristone  (ISO)
miquelianin  (ISO)
modafinil  (ISO)
morin  (ISO)
myricitrin  (EXP,ISO)
N-acetyl-L-cysteine  (ISO)
N-ethyl-5'-carboxamidoadenosine  (ISO)
N-nitrosodiethylamine  (ISO)
naringin  (ISO)
nickel atom  (EXP)
niclosamide  (EXP,ISO)
nicotinamide  (ISO)
nicotine  (ISO)
nimesulide  (ISO)
o-anisidine  (EXP)
ozagrel  (EXP)
panobinostat  (EXP)
paracetamol  (EXP)
paricalcitol  (ISO)
pentobarbital  (ISO)
perfluorooctane-1-sulfonic acid  (EXP)
phenethyl caffeate  (ISO)
phenobarbital  (EXP,ISO)
phenylephrine  (ISO)
phenylmercury acetate  (EXP)
phorbol 13-acetate 12-myristate  (ISO)
pirinixic acid  (EXP)
platycodin D  (ISO)
poly(ethylene)  (EXP)
prazosin  (ISO)
progesterone  (ISO)
promethazine  (ISO)
quercetin  (ISO)
raloxifene  (EXP,ISO)
resveratrol  (EXP,ISO)
riboflavin  (ISO)
Ro 41-5253  (ISO)
rotenone  (EXP)
rubiadin  (ISO)
SB 203580  (ISO)
SB 431542  (EXP,ISO)
sclareol  (ISO)
silicon dioxide  (EXP,ISO)
sirolimus  (ISO)
sodium arsenite  (ISO)
sodium fluoride  (EXP,ISO)
sulfasalazine  (EXP)
tacrolimus hydrate  (ISO)
testosterone  (ISO)
thalidomide  (EXP)
thymol  (ISO)
thymol sulfate(1-)  (ISO)
titanium atom  (ISO)
titanium dioxide  (ISO)
tofacitinib  (EXP,ISO)
tributylstannane  (ISO)
Tributyltin oxide  (ISO)
trichostatin A  (EXP)
trifluoperazine  (ISO)
triphenylstannane  (ISO)
troglitazone  (ISO)
tungsten  (ISO)
uranium atom  (ISO)
valproic acid  (EXP,ISO)
vitamin D  (EXP,ISO)
vorinostat  (EXP)
xanthohumol  (ISO)
zinc dichloride  (ISO)
zinc sulfate  (ISO)
zoledronic acid  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
animal organ morphogenesis  (ISO)
bone development  (ISO)
bone resorption  (IEA,ISO)
calcium ion homeostasis  (IEA,ISO)
calcium-mediated signaling  (ISS)
cellular response to leukemia inhibitory factor  (IEA,ISO)
cytokine-mediated signaling pathway  (IDA)
ERK1 and ERK2 cascade  (IEA)
immune response  (NAS)
mammary gland alveolus development  (IEA,ISO)
mammary gland epithelial cell proliferation  (IEA,ISO)
monocyte chemotaxis  (IDA)
ossification  (IEA,ISO)
osteoclast development  (IEA,ISO)
osteoclast differentiation  (IDA,ISO,ISS,NAS)
osteoclast proliferation  (IEA,ISO)
paracrine signaling  (IEA,ISO)
positive regulation of bone resorption  (IDA,ISO)
positive regulation of corticotropin-releasing hormone secretion  (ISS)
positive regulation of DNA-binding transcription factor activity  (ISS)
positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling  (IDA)
positive regulation of fever generation by positive regulation of prostaglandin secretion  (ISS)
positive regulation of gene expression  (IEA,ISO)
positive regulation of homotypic cell-cell adhesion  (IDA)
positive regulation of I-kappaB kinase/NF-kappaB signaling  (IEA,ISO)
positive regulation of intracellular signal transduction  (IDA)
positive regulation of JNK cascade  (IEA,ISO)
positive regulation of MAP kinase activity  (IDA)
positive regulation of NF-kappaB transcription factor activity  (IDA)
positive regulation of osteoclast development  (IEA,ISO)
positive regulation of osteoclast differentiation  (IDA,ISO)
positive regulation of phosphorylation  (ISO)
positive regulation of protein kinase B signaling  (IEA,ISO)
positive regulation of T cell activation  (IDA)
positive regulation of transcription by RNA polymerase II  (IDA)
regulation of actin binding  (IEA,ISO)
regulation of osteoclast differentiation  (ISO)
response to immobilization stress  (ISO)
response to radiation  (ISO)
TNFSF11-mediated signaling pathway  (IDA,ISO)
tooth eruption  (IEA,ISO)
tumor necrosis factor-mediated signaling pathway  (ISS)

Cellular Component

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abnormal blistering of the skin  (IAGP)
Abnormal pulmonary valve morphology  (IAGP)
Abnormality of epiphysis morphology  (IAGP)
Abnormality of hair texture  (IAGP)
Abnormality of temperature regulation  (IAGP)
Abnormality of the metaphysis  (IAGP)
Abnormality of the ribs  (IAGP)
Abnormality of visual evoked potentials  (IAGP)
Anemia  (IAGP)
Apnea  (IAGP)
Autosomal recessive inheritance  (IAGP)
Blindness  (IAGP)
Bone pain  (IAGP)
Bowing of the long bones  (IAGP)
Bruising susceptibility  (IAGP)
Carious teeth  (IAGP)
Chronic rhinitis  (IAGP)
Chronic rhinitis due to narrow nasal airway  (IAGP)
Cranial hyperostosis  (IAGP)
Cranial nerve paralysis  (IAGP)
Craniosynostosis  (IAGP)
Delayed eruption of teeth  (IAGP)
Diaphyseal sclerosis  (IAGP)
Extramedullary hematopoiesis  (IAGP)
Facial paralysis  (IAGP)
Genu valgum  (IAGP)
Growth delay  (IAGP)
Hearing impairment  (IAGP)
Hepatomegaly  (IAGP)
Hepatosplenomegaly  (IAGP)
Hydrocephalus  (IAGP)
Hypocalcemia  (IAGP)
Hypophosphatemia  (IAGP)
Lymphadenopathy  (IAGP)
Macrocephaly  (IAGP)
Mandibular osteomyelitis  (IAGP)
Mandibular prognathia  (IAGP)
Narrow chest  (IAGP)
Nystagmus  (IAGP)
Opsoclonus  (IAGP)
Optic atrophy  (IAGP)
Optic nerve compression  (IAGP)
Osteopetrosis  (IAGP)
Otitis media  (IAGP)
Pallor  (IAGP)
Pancytopenia  (IAGP)
Persistence of primary teeth  (IAGP)
Premature loss of primary teeth  (IAGP)
Pulmonary arterial hypertension  (IAGP)
Pulmonary artery stenosis  (IAGP)
Recurrent fractures  (IAGP)
Recurrent respiratory infections  (IAGP)
Reduced bone mineral density  (IAGP)
Splenomegaly  (IAGP)
Thrombocytopenia  (IAGP)
Tremor  (IAGP)
Visual impairment  (IAGP)
References

Additional References at PubMed
PMID:9312132   PMID:9367155   PMID:9396779   PMID:9520411   PMID:9568710   PMID:10224132   PMID:10580503   PMID:10635328   PMID:10708588   PMID:11606048   PMID:11741951   PMID:11751921  
PMID:11792569   PMID:12043011   PMID:12221720   PMID:12364326   PMID:12393586   PMID:12393684   PMID:12469211   PMID:12477932   PMID:12564836   PMID:12574344   PMID:12619938   PMID:12682046  
PMID:12698202   PMID:12702561   PMID:12756027   PMID:12817763   PMID:12824189   PMID:12923331   PMID:12954625   PMID:12975380   PMID:14699143   PMID:14734048   PMID:14751235   PMID:15044512  
PMID:15205949   PMID:15221493   PMID:15248232   PMID:15290725   PMID:15292354   PMID:15304486   PMID:15313187   PMID:15320903   PMID:15322748   PMID:15377473   PMID:15449141   PMID:15476205  
PMID:15489334   PMID:15554353   PMID:15564564   PMID:15613999   PMID:15615493   PMID:15615497   PMID:15671541   PMID:15710592   PMID:15722361   PMID:15731115   PMID:15732858   PMID:15794927  
PMID:15894268   PMID:15972386   PMID:16052586   PMID:16109714   PMID:16133687   PMID:16143421   PMID:16144909   PMID:16191370   PMID:16215261   PMID:16220542   PMID:16234249   PMID:16240334  
PMID:16249885   PMID:16270354   PMID:16317958   PMID:16522681   PMID:16533764   PMID:16572175   PMID:16583245   PMID:16612568   PMID:16681444   PMID:16700737   PMID:16704959   PMID:16730419  
PMID:16861684   PMID:16925460   PMID:16953816   PMID:16969487   PMID:17018528   PMID:17042716   PMID:17053039   PMID:17133360   PMID:17151927   PMID:17195907   PMID:17197168   PMID:17241109  
PMID:17288531   PMID:17328065   PMID:17328075   PMID:17331078   PMID:17448630   PMID:17506059   PMID:17520299   PMID:17558893   PMID:17560137   PMID:17572386   PMID:17580719   PMID:17593489  
PMID:17606458   PMID:17620507   PMID:17632511   PMID:17634140   PMID:17634142   PMID:17667143   PMID:17702740   PMID:17703334   PMID:17852826   PMID:17876645   PMID:17881498   PMID:17891780  
PMID:17895323   PMID:17966895   PMID:17970704   PMID:17982618   PMID:17990294   PMID:17993768   PMID:18061491   PMID:18064531   PMID:18072013   PMID:18073309   PMID:18160010   PMID:18172654  
PMID:18174230   PMID:18208894   PMID:18253488   PMID:18271850   PMID:18301383   PMID:18305214   PMID:18311801   PMID:18319315   PMID:18361931   PMID:18362509   PMID:18367263   PMID:18369625  
PMID:18381203   PMID:18389210   PMID:18399769   PMID:18406448   PMID:18435789   PMID:18445777   PMID:18480302   PMID:18502820   PMID:18528653   PMID:18539107   PMID:18556224   PMID:18565244  
PMID:18565252   PMID:18586671   PMID:18589796   PMID:18606301   PMID:18606662   PMID:18617513   PMID:18634923   PMID:18645583   PMID:18668542   PMID:18710934   PMID:18727653   PMID:18754324  
PMID:18767923   PMID:18802807   PMID:18928898   PMID:18976975   PMID:19008470   PMID:19058084   PMID:19058836   PMID:19073256   PMID:19079262   PMID:19085839   PMID:19105036   PMID:19112497  
PMID:19131500   PMID:19134349   PMID:19158438   PMID:19170075   PMID:19185505   PMID:19298221   PMID:19299182   PMID:19299513   PMID:19325145   PMID:19352306   PMID:19379170   PMID:19401376  
PMID:19415676   PMID:19416721   PMID:19446344   PMID:19449178   PMID:19453261   PMID:19458885   PMID:19473572   PMID:19502537   PMID:19546479   PMID:19548455   PMID:19554506   PMID:19556344  
PMID:19560569   PMID:19633200   PMID:19662974   PMID:19671684   PMID:19699688   PMID:19705167   PMID:19716455   PMID:19781765   PMID:19793762   PMID:19810098   PMID:19847430   PMID:19877052  
PMID:19896533   PMID:19913121   PMID:19934266   PMID:19940926   PMID:19967657   PMID:20033478   PMID:20066901   PMID:20084381   PMID:20157786   PMID:20167120   PMID:20205168   PMID:20225273  
PMID:20231205   PMID:20237496   PMID:20333869   PMID:20379614   PMID:20412401   PMID:20416172   PMID:20431232   PMID:20506157   PMID:20506523   PMID:20531232   PMID:20533289   PMID:20534768  
PMID:20554715   PMID:20628086   PMID:20631064   PMID:20663885   PMID:20690034   PMID:20718662   PMID:20848544   PMID:20861651   PMID:20869948   PMID:20881963   PMID:20890036   PMID:20932948  
PMID:20974615   PMID:21074311   PMID:21087777   PMID:21102463   PMID:21124946   PMID:21159831   PMID:21193069   PMID:21259010   PMID:21290130   PMID:21316442   PMID:21326202   PMID:21327451  
PMID:21327765   PMID:21328055   PMID:21328467   PMID:21331661   PMID:21352301   PMID:21359671   PMID:21370405   PMID:21371424   PMID:21401926   PMID:21413932   PMID:21474331   PMID:21479680  
PMID:21479768   PMID:21514280   PMID:21533022   PMID:21547906   PMID:21561598   PMID:21565793   PMID:21643971   PMID:21649792   PMID:21692859   PMID:21708014   PMID:21725611   PMID:21742767  
PMID:21748518   PMID:21777519   PMID:21802729   PMID:21810381   PMID:21814016   PMID:21814018   PMID:21814019   PMID:21814020   PMID:21814021   PMID:21814022   PMID:21814023   PMID:21814024  
PMID:21814025   PMID:21814026   PMID:21850548   PMID:21868322   PMID:21873635   PMID:21880134   PMID:21900206   PMID:21903860   PMID:21941412   PMID:21963155   PMID:21964949   PMID:21970938  
PMID:21991382   PMID:21992185   PMID:22001124   PMID:22001292   PMID:22023082   PMID:22025323   PMID:22027240   PMID:22034880   PMID:22049226   PMID:22053710   PMID:22102368   PMID:22116393  
PMID:22119834   PMID:22120987   PMID:22172512   PMID:22176920   PMID:22178057   PMID:22185226   PMID:22207352   PMID:22214279   PMID:22242921   PMID:22268274   PMID:22278426   PMID:22278625  
PMID:22326262   PMID:22330139   PMID:22402034   PMID:22490874   PMID:22531921   PMID:22546829   PMID:22556124   PMID:22592030   PMID:22627031   PMID:22634178   PMID:22640692   PMID:22664871  
PMID:22698523   PMID:22704876   PMID:22705116   PMID:22709525   PMID:22715006   PMID:22753650   PMID:22792071   PMID:22848465   PMID:22867712   PMID:22929916   PMID:22936827   PMID:22952578  
PMID:22955577   PMID:22989723   PMID:23018352   PMID:23077504   PMID:23139212   PMID:23176170   PMID:23177932   PMID:23178378   PMID:23183242   PMID:23190522   PMID:23241893   PMID:23244167  
PMID:23267146   PMID:23329761   PMID:23336103   PMID:23396210   PMID:23404437   PMID:23437003   PMID:23439434   PMID:23440406   PMID:23457386   PMID:23499553   PMID:23509146   PMID:23516466  
PMID:23521017   PMID:23531404   PMID:23549459   PMID:23600327   PMID:23612487   PMID:23666878   PMID:23677868   PMID:23697850   PMID:23698708   PMID:23702841   PMID:23710436   PMID:23710898  
PMID:23744843   PMID:23752595   PMID:23756197   PMID:23762088   PMID:23845465   PMID:23856613   PMID:23869610   PMID:23915851   PMID:23959668   PMID:23971629   PMID:23990468   PMID:24040204  
PMID:24048682   PMID:24066029   PMID:24127173   PMID:24161214   PMID:24200492   PMID:24249740   PMID:24272640   PMID:24277958   PMID:24296448   PMID:24307429   PMID:24326209   PMID:24442994  
PMID:24448976   PMID:24478054   PMID:24488413   PMID:24531425   PMID:24533935   PMID:24557630   PMID:24574213   PMID:24664887   PMID:24710939   PMID:24719884   PMID:24721487   PMID:24726460  
PMID:24729980   PMID:24763700   PMID:24769277   PMID:24780728   PMID:24827498   PMID:24875904   PMID:24929185   PMID:24945404   PMID:24958900   PMID:24989131   PMID:25007964   PMID:25013993  
PMID:25047443   PMID:25056244   PMID:25060295   PMID:25068378   PMID:25079688   PMID:25111682   PMID:25138264   PMID:25138985   PMID:25200184   PMID:25211367   PMID:25212894   PMID:25268581  
PMID:25270538   PMID:25280574   PMID:25289668   PMID:25333856   PMID:25335447   PMID:25345075   PMID:25375981   PMID:25393853   PMID:25412610   PMID:25433635   PMID:25445452   PMID:25464125  
PMID:25609157   PMID:25667102   PMID:25724681   PMID:25738351   PMID:25797915   PMID:25810067   PMID:25811130   PMID:25837853   PMID:25849336   PMID:25912212   PMID:25956608   PMID:26038599  
PMID:26079882   PMID:26090754   PMID:26112372   PMID:26133738   PMID:26149648   PMID:26186194   PMID:26200837   PMID:26204845   PMID:26218592   PMID:26261013   PMID:26337028   PMID:26339601  
PMID:26351115   PMID:26362732   PMID:26366858   PMID:26398902   PMID:26420479   PMID:26438320   PMID:26446504   PMID:26506085   PMID:26554541   PMID:26617755   PMID:26621504   PMID:26629528  
PMID:26635910   PMID:26646413   PMID:26722486   PMID:26734994   PMID:26749530   PMID:26762414   PMID:26781475   PMID:26894886   PMID:26914636   PMID:26924459   PMID:26975539   PMID:26982319  
PMID:27009236   PMID:27028343   PMID:27040945   PMID:27061293   PMID:27096305   PMID:27171030   PMID:27197753   PMID:27235726   PMID:27251225   PMID:27279356   PMID:27279652   PMID:27301430  
PMID:27304650   PMID:27322743   PMID:27328677   PMID:27336899   PMID:27403809   PMID:27411457   PMID:27550416   PMID:27771584   PMID:27815441   PMID:27826889   PMID:27834938   PMID:27862210  
PMID:27881737   PMID:27983911   PMID:27992569   PMID:28002811   PMID:28007656   PMID:28146138   PMID:28190118   PMID:28244588   PMID:28246602   PMID:28252575   PMID:28278513   PMID:28292438  
PMID:28367895   PMID:28373003   PMID:28385082   PMID:28388533   PMID:28417335   PMID:28453307   PMID:28464982   PMID:28488893   PMID:28514442   PMID:28525794   PMID:28555364   PMID:28645722  
PMID:28701332   PMID:28904316   PMID:29022922   PMID:29052177   PMID:29074954   PMID:29145460   PMID:29200953   PMID:29204705   PMID:29214160   PMID:29241686   PMID:29277763   PMID:29336616  
PMID:29424771   PMID:29494398   PMID:29528523   PMID:29635231   PMID:29676528   PMID:29684757   PMID:29685422   PMID:29774578   PMID:29774992   PMID:29777507   PMID:29895074   PMID:29920500  
PMID:29943644   PMID:29968926   PMID:30001863   PMID:30015970   PMID:30041283   PMID:30043156   PMID:30055540   PMID:30093448   PMID:30132289   PMID:30230620   PMID:30284692   PMID:30291461  
PMID:30309658   PMID:30348163   PMID:30352839   PMID:30355436   PMID:30418981   PMID:30425091   PMID:30496606   PMID:30538295   PMID:30562925   PMID:30737372   PMID:30737962   PMID:30783036  
PMID:30804932   PMID:30816098   PMID:30871729   PMID:30903656   PMID:30958621   PMID:30984193   PMID:30998511   PMID:31015798   PMID:31101043   PMID:31120440   PMID:31126201   PMID:31189751  
PMID:31209146   PMID:31212033   PMID:31217507   PMID:31254133   PMID:31292059   PMID:31292137   PMID:31409771   PMID:31486401   PMID:31526513   PMID:31546898   PMID:31633306   PMID:31641233  
PMID:31655342   PMID:31709849   PMID:31724123   PMID:31859389   PMID:31947859   PMID:31992773   PMID:32069819   PMID:32102511   PMID:32108533   PMID:32159708   PMID:32198488   PMID:32248172  
PMID:32296183   PMID:32341419   PMID:32418417   PMID:32442729   PMID:32525717   PMID:32815001   PMID:32826531   PMID:32871032   PMID:32873083   PMID:33283899   PMID:33376557   PMID:33404854  
PMID:33494362   PMID:33572979   PMID:33768738   PMID:33773583   PMID:33813793   PMID:33893301   PMID:33907786   PMID:34182967   PMID:34493364  


Genomics

Comparative Map Data
TNFSF11
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1342,562,736 - 42,608,013 (+)EnsemblGRCh38hg38GRCh38
GRCh381342,562,736 - 42,608,013 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh371343,136,872 - 43,182,149 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361342,043,795 - 42,080,148 (+)NCBINCBI36hg18NCBI36
Build 341342,043,794 - 42,080,148NCBI
Celera1324,194,611 - 24,239,896 (+)NCBI
Cytogenetic Map13q14.11NCBI
HuRef1323,940,423 - 23,985,716 (+)NCBIHuRef
CHM1_11343,104,338 - 43,149,624 (+)NCBICHM1_1
Tnfsf11
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391478,514,886 - 78,545,483 (-)NCBIGRCm39mm39
GRCm39 Ensembl1478,514,885 - 78,545,483 (-)Ensembl
GRCm381478,277,446 - 78,308,043 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1478,277,445 - 78,308,043 (-)EnsemblGRCm38mm10GRCm38
MGSCv371478,677,253 - 78,707,850 (-)NCBIGRCm37mm9NCBIm37
MGSCv361477,009,005 - 77,042,170 (-)NCBImm8
Celera1475,790,488 - 75,821,164 (-)NCBICelera
Cytogenetic Map14D3NCBI
cM Map1441.26NCBI
Tnfsf11
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.21553,674,990 - 53,705,171 (-)NCBImRatBN7.2
mRatBN7.2 Ensembl1553,673,877 - 53,705,445 (-)Ensembl
Rnor_6.01560,482,527 - 60,512,704 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1560,482,527 - 60,512,704 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01565,726,538 - 65,757,935 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
Rnor_5.01564,155,680 - 64,186,116 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41559,397,837 - 59,428,014 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.11559,413,616 - 59,443,794 (-)NCBI
Celera1553,271,197 - 53,300,935 (-)NCBICelera
Cytogenetic Map15q11NCBI
Tnfsf11
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_004955518430,642 - 462,705 (+)EnsemblChiLan1.0
ChiLan1.0NW_004955518431,401 - 462,063 (+)NCBIChiLan1.0ChiLan1.0
TNFSF11
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Mhudiblu_PPA_v01323,750,835 - 23,784,740 (+)NCBIMhudiblu_PPA_v0panPan3
TNFSF11
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1228,226,931 - 8,257,926 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl228,227,555 - 8,258,645 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha228,218,782 - 8,249,783 (-)NCBI
ROS_Cfam_1.0228,445,691 - 8,476,717 (-)NCBI
UMICH_Zoey_3.1228,136,967 - 8,174,247 (-)NCBI
UNSW_CanFamBas_1.0228,193,944 - 8,224,951 (-)NCBI
UU_Cfam_GSD_1.0228,205,225 - 8,236,245 (-)NCBI
Tnfsf11
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024404945152,785,812 - 152,819,281 (+)NCBI
SpeTri2.0NW_0049367471,255,803 - 1,288,252 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
TNFSF11
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1124,466,586 - 24,505,422 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11124,468,011 - 24,505,421 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21125,117,332 - 25,154,855 (-)NCBISscrofa10.2Sscrofa10.2susScr3
TNFSF11
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1320,717,884 - 20,761,520 (+)NCBIChlSab1.1chlSab2
ChlSab1.1 Ensembl320,727,592 - 20,760,408 (+)EnsemblChlSab1.1chlSab2
Vero_WHO_p1.0NW_02366605723,446,636 - 23,492,542 (-)NCBIVero_WHO_p1.0
Tnfsf11
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462474812,527,221 - 12,555,551 (-)NCBIHetGla_female_1.0hetGla2

Position Markers
D13S325  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371343,173,351 - 43,173,559UniSTSGRCh37
Build 361342,071,351 - 42,071,559RGDNCBI36
Celera1324,231,090 - 24,231,306RGD
Cytogenetic Map13q14UniSTS
HuRef1323,976,910 - 23,977,126UniSTS
Marshfield Genetic Map1338.96UniSTS
Marshfield Genetic Map1338.96RGD
TNG Radiation Hybrid Map1312376.0UniSTS
deCODE Assembly Map1344.38UniSTS
Stanford-G3 RH Map131021.0UniSTS
Whitehead-RH Map13117.3UniSTS
Whitehead-YAC Contig Map13 UniSTS
NCBI RH Map13335.5UniSTS
RH102002  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371343,172,696 - 43,172,844UniSTSGRCh37
Build 361342,070,696 - 42,070,844RGDNCBI36
Celera1324,230,435 - 24,230,583RGD
Cytogenetic Map13q14UniSTS
HuRef1323,976,255 - 23,976,403UniSTS
GeneMap99-GB4 RH Map13132.67UniSTS
SHGC-132244  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371343,173,261 - 43,173,552UniSTSGRCh37
Build 361342,071,261 - 42,071,552RGDNCBI36
Celera1324,231,000 - 24,231,299RGD
Cytogenetic Map13q14UniSTS
HuRef1323,976,820 - 23,977,119UniSTS
TNG Radiation Hybrid Map1312376.0UniSTS
TNFSF11_2446  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371343,181,541 - 43,182,205UniSTSGRCh37
Build 361342,079,541 - 42,080,205RGDNCBI36
Celera1324,239,288 - 24,239,952RGD
HuRef1323,985,108 - 23,985,772UniSTS

miRNA Target Status

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR18Ahsa-miR-18a-5pMirtarbaseexternal_infoMicroarray//Northern blot//Luciferase reporter assFunctional MTI16331254

Predicted Target Of
Summary Value
Count of predictions:1819
Count of miRNA genes:404
Interacting mature miRNAs:470
Transcripts:ENST00000239849, ENST00000358545, ENST00000398795, ENST00000405262, ENST00000544862
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system adipose tissue appendage pharyngeal arch
High
Medium 23 5 5 2 305 2 72 2 3 5 5
Low 258 51 263 227 327 216 207 8 26 58 484 142 11 24 43 2
Below cutoff 1446 1602 980 364 832 217 2328 974 1264 222 494 980 154 790 1420

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_008990 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_003701 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_033012 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011535280 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017020802 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017020803 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA504211 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB037599 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB061227 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB064268 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB064269 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB064270 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF013171 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF019047 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF053712 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF333234 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF544022 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL139382 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC040889 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC074823 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC074890 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC117286 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC117288 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ007726 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471075 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CS110677 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  GM980137 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LN874324 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000239849   ⟹   ENSP00000239849
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1342,574,304 - 42,606,918 (+)Ensembl
RefSeq Acc Id: ENST00000358545   ⟹   ENSP00000351347
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1342,562,736 - 42,607,174 (+)Ensembl
RefSeq Acc Id: ENST00000398795   ⟹   ENSP00000381775
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1342,574,152 - 42,608,013 (+)Ensembl
RefSeq Acc Id: ENST00000405262   ⟹   ENSP00000384042
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1342,566,617 - 42,608,013 (+)Ensembl
RefSeq Acc Id: ENST00000544862   ⟹   ENSP00000444913
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1342,574,224 - 42,606,918 (+)Ensembl
RefSeq Acc Id: NM_003701   ⟹   NP_003692
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381342,574,152 - 42,608,013 (+)NCBI
GRCh371343,136,872 - 43,182,149 (+)ENTREZGENE
Build 361342,046,289 - 42,080,148 (+)NCBI Archive
HuRef1323,940,423 - 23,985,716 (+)ENTREZGENE
CHM1_11343,115,752 - 43,149,624 (+)NCBI
Sequence:
RefSeq Acc Id: NM_033012   ⟹   NP_143026
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381342,562,736 - 42,608,013 (+)NCBI
GRCh371343,136,872 - 43,182,149 (+)ENTREZGENE
Build 361342,043,795 - 42,080,148 (+)NCBI Archive
HuRef1323,940,423 - 23,985,716 (+)ENTREZGENE
CHM1_11343,104,338 - 43,149,624 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011535280   ⟹   XP_011533582
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381342,574,932 - 42,608,013 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017020802   ⟹   XP_016876291
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381342,580,407 - 42,608,013 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017020803   ⟹   XP_016876292
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381342,574,819 - 42,608,013 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_143026   ⟸   NM_033012
- Peptide Label: isoform 2
- UniProtKB: O14788 (UniProtKB/Swiss-Prot),   Q54A98 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_003692   ⟸   NM_003701
- Peptide Label: isoform 1
- UniProtKB: O14788 (UniProtKB/Swiss-Prot),   Q5T9Y4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011533582   ⟸   XM_011535280
- Peptide Label: isoform X2
- UniProtKB: O14788 (UniProtKB/Swiss-Prot),   Q54A98 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016876292   ⟸   XM_017020803
- Peptide Label: isoform X2
- UniProtKB: O14788 (UniProtKB/Swiss-Prot),   Q54A98 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016876291   ⟸   XM_017020802
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: ENSP00000381775   ⟸   ENST00000398795
RefSeq Acc Id: ENSP00000444913   ⟸   ENST00000544862
RefSeq Acc Id: ENSP00000384042   ⟸   ENST00000405262
RefSeq Acc Id: ENSP00000239849   ⟸   ENST00000239849
RefSeq Acc Id: ENSP00000351347   ⟸   ENST00000358545
Protein Domains
TNF_2

Promoters
RGD ID:6791160
Promoter ID:HG_KWN:17692
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:NM_033012
Position:
Human AssemblyChrPosition (strand)Source
Build 361342,033,756 - 42,034,256 (+)MPROMDB
RGD ID:6791162
Promoter ID:HG_KWN:17693
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:UC001UYT.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361342,042,856 - 42,043,356 (+)MPROMDB
RGD ID:6791158
Promoter ID:HG_KWN:17694
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   K562,   Lymphoblastoid
Transcripts:ENST00000239849
Position:
Human AssemblyChrPosition (strand)Source
Build 361342,045,596 - 42,046,427 (+)MPROMDB
RGD ID:7226307
Promoter ID:EPDNEW_H18899
Type:initiation region
Name:TNFSF11_1
Description:TNF superfamily member 11
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381342,574,152 - 42,574,212EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
TNFSF11, 5-BP DEL, IVS7+4 deletion Autosomal recessive osteopetrosis 2 [RCV000007388] Chr13:13q14 pathogenic
NM_003701.4(TNFSF11):c.828_829del (p.Val277fs) deletion Autosomal recessive osteopetrosis 2 [RCV000007390] Chr13:42606792..42606793 [GRCh38]
Chr13:43180928..43180929 [GRCh37]
Chr13:13q14.11
pathogenic
NM_003701.4(TNFSF11):c.596T>A (p.Met199Lys) single nucleotide variant Autosomal recessive osteopetrosis 2 [RCV000007389] Chr13:42606560 [GRCh38]
Chr13:43180696 [GRCh37]
Chr13:13q14.11
pathogenic
GRCh38/hg38 13q12.3-31.3(chr13:31363472-90575292)x3 copy number gain See cases [RCV000050293] Chr13:31363472..90575292 [GRCh38]
Chr13:31937609..91227546 [GRCh37]
Chr13:30835609..90025547 [NCBI36]
Chr13:13q12.3-31.3
pathogenic
GRCh38/hg38 13q12.3-21.33(chr13:30697728-69471973)x1 copy number loss See cases [RCV000051373] Chr13:30697728..69471973 [GRCh38]
Chr13:31271865..70046105 [GRCh37]
Chr13:30169865..68944106 [NCBI36]
Chr13:13q12.3-21.33
pathogenic
GRCh38/hg38 13q13.3-14.2(chr13:38558617-47502862)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051377]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051377]|See cases [RCV000051377] Chr13:38558617..47502862 [GRCh38]
Chr13:39132754..48076997 [GRCh37]
Chr13:38030754..46974998 [NCBI36]
Chr13:13q13.3-14.2
pathogenic
NM_003701.4(TNFSF11):c.80A>G (p.Glu27Gly) single nucleotide variant Autosomal recessive osteopetrosis 2 [RCV001111744]|not provided [RCV001519155]|not specified [RCV000173307] Chr13:42574383 [GRCh38]
Chr13:43148519 [GRCh37]
Chr13:13q14.11
benign
NM_003701.4(TNFSF11):c.126T>C (p.Pro42=) single nucleotide variant Autosomal recessive osteopetrosis 2 [RCV000394042]|not provided [RCV001518872]|not specified [RCV000173308] Chr13:42574429 [GRCh38]
Chr13:43148565 [GRCh37]
Chr13:13q14.11
benign
GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3 copy number gain See cases [RCV000053731] Chr13:19837395..114327173 [GRCh38]
Chr13:20411535..115085141 [GRCh37]
Chr13:19309535..114110750 [NCBI36]
Chr13:13q12.11-34
pathogenic
GRCh38/hg38 13q12.3-31.1(chr13:30318913-83610426)x3 copy number gain See cases [RCV000053737] Chr13:30318913..83610426 [GRCh38]
Chr13:30893050..84184561 [GRCh37]
Chr13:29791050..83082562 [NCBI36]
Chr13:13q12.3-31.1
pathogenic
GRCh38/hg38 13q11-34(chr13:18565048-114327173)x3 copy number gain See cases [RCV000053719] Chr13:18565048..114327173 [GRCh38]
Chr13:19139188..115085141 [GRCh37]
Chr13:18037188..114110750 [NCBI36]
Chr13:13q11-34
pathogenic
GRCh38/hg38 13q11-34(chr13:18850545-114327173)x3 copy number gain See cases [RCV000053723] Chr13:18850545..114327173 [GRCh38]
Chr13:19296527..115085141 [GRCh37]
Chr13:18194527..114110750 [NCBI36]
Chr13:13q11-34
pathogenic
GRCh38/hg38 13q12.11-34(chr13:18946182-114304628)x3 copy number gain See cases [RCV000053726] Chr13:18946182..114304628 [GRCh38]
Chr13:19520322..115070103 [GRCh37]
Chr13:18418322..114088205 [NCBI36]
Chr13:13q12.11-34
pathogenic
GRCh38/hg38 13q13.2-34(chr13:33528097-114327173)x3 copy number gain See cases [RCV000053759] Chr13:33528097..114327173 [GRCh38]
Chr13:34102234..115085141 [GRCh37]
Chr13:33000234..114110750 [NCBI36]
Chr13:13q13.2-34
pathogenic
GRCh38/hg38 13q14.11(chr13:40799505-44006174)x3 copy number gain See cases [RCV000053761] Chr13:40799505..44006174 [GRCh38]
Chr13:41373641..44580310 [GRCh37]
Chr13:40271641..43478310 [NCBI36]
Chr13:13q14.11
pathogenic
NM_033012.3(TNFSF11):c.448C>T (p.Arg150Ter) single nucleotide variant Malignant melanoma [RCV000070369] Chr13:42606631 [GRCh38]
Chr13:43180767 [GRCh37]
Chr13:42078767 [NCBI36]
Chr13:13q14.11
not provided
NM_003701.4(TNFSF11):c.387+14G>A single nucleotide variant Autosomal recessive osteopetrosis 2 [RCV000400844]|not provided [RCV001511770]|not specified [RCV000175758] Chr13:42581307 [GRCh38]
Chr13:43155443 [GRCh37]
Chr13:13q14.11
benign
NM_003701.4(TNFSF11):c.214G>A (p.Ala72Thr) single nucleotide variant Autosomal recessive osteopetrosis 2 [RCV000400384]|not provided [RCV000173306] Chr13:42574517 [GRCh38]
Chr13:43148653 [GRCh37]
Chr13:13q14.11
likely benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh38/hg38 13q13.3-21.31(chr13:36777318-62955876)x1 copy number loss See cases [RCV000133696] Chr13:36777318..62955876 [GRCh38]
Chr13:37351455..63530009 [GRCh37]
Chr13:36249455..62428010 [NCBI36]
Chr13:13q13.3-21.31
pathogenic
GRCh38/hg38 13q14.11-31.1(chr13:41288493-85137552)x3 copy number gain See cases [RCV000133944] Chr13:41288493..85137552 [GRCh38]
Chr13:41862629..85711687 [GRCh37]
Chr13:40760629..84609688 [NCBI36]
Chr13:13q14.11-31.1
pathogenic
GRCh38/hg38 13q12.11-34(chr13:19833130-114298614)x3 copy number gain See cases [RCV000134104] Chr13:19833130..114298614 [GRCh38]
Chr13:20407270..115064089 [GRCh37]
Chr13:19305270..114082191 [NCBI36]
Chr13:13q12.11-34
pathogenic
GRCh38/hg38 13q12.3-21.32(chr13:31553608-65470367)x3 copy number gain See cases [RCV000135808] Chr13:31553608..65470367 [GRCh38]
Chr13:32127745..66044499 [GRCh37]
Chr13:31025745..64942500 [NCBI36]
Chr13:13q12.3-21.32
pathogenic
GRCh38/hg38 13q11-34(chr13:18445862-114327173)x1 copy number loss See cases [RCV000135610] Chr13:18445862..114327173 [GRCh38]
Chr13:19020001..115085141 [GRCh37]
Chr13:10098739..114110750 [NCBI36]
Chr13:13q11-34
pathogenic
GRCh38/hg38 13q14.11-31.1(chr13:41143820-85137552)x1 copy number loss See cases [RCV000136526] Chr13:41143820..85137552 [GRCh38]
Chr13:41717956..85711687 [GRCh37]
Chr13:40615956..84609688 [NCBI36]
Chr13:13q14.11-31.1
pathogenic
GRCh38/hg38 13q14.11-34(chr13:40942298-114340331)x1 copy number loss See cases [RCV000137893] Chr13:40942298..114340331 [GRCh38]
Chr13:41516434..115085141 [GRCh37]
Chr13:40414434..114123908 [NCBI36]
Chr13:13q14.11-34
pathogenic
GRCh38/hg38 13q12.3-14.2(chr13:31018160-48491204)x1 copy number loss See cases [RCV000138723] Chr13:31018160..48491204 [GRCh38]
Chr13:31592297..49065340 [GRCh37]
Chr13:30490297..47963341 [NCBI36]
Chr13:13q12.3-14.2
pathogenic
GRCh38/hg38 13q13.1-31.1(chr13:32531486-86757044)x3 copy number gain See cases [RCV000138339] Chr13:32531486..86757044 [GRCh38]
Chr13:33105623..87409299 [GRCh37]
Chr13:32003623..86207300 [NCBI36]
Chr13:13q13.1-31.1
pathogenic
GRCh38/hg38 13q12.11-34(chr13:19833130-114327106)x3 copy number gain See cases [RCV000139078] Chr13:19833130..114327106 [GRCh38]
Chr13:20407270..115085141 [GRCh37]
Chr13:19305270..114110683 [NCBI36]
Chr13:13q12.11-34
pathogenic
GRCh38/hg38 13q11-34(chr13:18456040-114340285)x3 copy number gain See cases [RCV000140004] Chr13:18456040..114340285 [GRCh38]
Chr13:19030180..115105760 [GRCh37]
Chr13:17928180..114123862 [NCBI36]
Chr13:13q11-34
pathogenic
GRCh38/hg38 13q13.3-21.32(chr13:37864226-67963788)x1 copy number loss See cases [RCV000140744] Chr13:37864226..67963788 [GRCh38]
Chr13:38438363..68537920 [GRCh37]
Chr13:37336363..67435921 [NCBI36]
Chr13:13q13.3-21.32
pathogenic
GRCh38/hg38 13q13.3-14.3(chr13:38514177-51425214)x1 copy number loss See cases [RCV000140788] Chr13:38514177..51425214 [GRCh38]
Chr13:39088314..51999350 [GRCh37]
Chr13:37986314..50897351 [NCBI36]
Chr13:13q13.3-14.3
pathogenic
GRCh38/hg38 13q14.11(chr13:39860568-43580405)x3 copy number gain See cases [RCV000142892] Chr13:39860568..43580405 [GRCh38]
Chr13:40434705..44154541 [GRCh37]
Chr13:39332705..43052541 [NCBI36]
Chr13:13q14.11
uncertain significance
GRCh38/hg38 13q12.11-34(chr13:19671934-114340331)x3 copy number gain See cases [RCV000142924] Chr13:19671934..114340331 [GRCh38]
Chr13:20246074..115085141 [GRCh37]
Chr13:19144074..114123908 [NCBI36]
Chr13:13q12.11-34
pathogenic
GRCh38/hg38 13q11-34(chr13:18862146-114342258)x3 copy number gain See cases [RCV000143462] Chr13:18862146..114342258 [GRCh38]
Chr13:19436286..115107733 [GRCh37]
Chr13:18334286..114125835 [NCBI36]
Chr13:13q11-34
pathogenic
GRCh38/hg38 13q12.3-31.3(chr13:31363472-90575292)x3 copy number gain See cases [RCV000148244] Chr13:31363472..90575292 [GRCh38]
Chr13:31937609..91227546 [GRCh37]
Chr13:30835609..90025547 [NCBI36]
Chr13:13q12.3-31.3
pathogenic
GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3 copy number gain See cases [RCV000148126] Chr13:19837395..114327173 [GRCh38]
Chr13:20411535..115085141 [GRCh37]
Chr13:19309535..114110750 [NCBI36]
Chr13:13q12.11-34
pathogenic
NM_003701.4(TNFSF11):c.591C>A (p.Ser197=) single nucleotide variant not provided [RCV000178881] Chr13:42606555 [GRCh38]
Chr13:43180691 [GRCh37]
Chr13:13q14.11
uncertain significance
NM_003701.4(TNFSF11):c.147C>T (p.Phe49=) single nucleotide variant Autosomal recessive osteopetrosis 2 [RCV000280150]|not provided [RCV000949983]|not specified [RCV000402709] Chr13:42574450 [GRCh38]
Chr13:43148586 [GRCh37]
Chr13:13q14.11
benign|likely benign
GRCh37/hg19 13q12.11-34(chr13:19571503-115092569)x3 copy number gain See cases [RCV000240150] Chr13:19571503..115092569 [GRCh37]
Chr13:13q12.11-34
pathogenic
NM_003701.4(TNFSF11):c.*554A>G single nucleotide variant Autosomal recessive osteopetrosis 2 [RCV000284361] Chr13:42607472 [GRCh38]
Chr13:43181608 [GRCh37]
Chr13:13q14.11
uncertain significance
NM_003701.4(TNFSF11):c.239C>T (p.Ser80Leu) single nucleotide variant Autosomal recessive osteopetrosis 2 [RCV000304586]|not provided [RCV000888771] Chr13:42581145 [GRCh38]
Chr13:43155281 [GRCh37]
Chr13:13q14.11
benign|uncertain significance
NM_003701.4(TNFSF11):c.534T>C (p.Gly178=) single nucleotide variant Autosomal recessive osteopetrosis 2 [RCV000270598] Chr13:42606498 [GRCh38]
Chr13:43180634 [GRCh37]
Chr13:13q14.11
uncertain significance
NM_003701.4(TNFSF11):c.*264G>T single nucleotide variant Autosomal recessive osteopetrosis 2 [RCV000372637] Chr13:42607182 [GRCh38]
Chr13:43181318 [GRCh37]
Chr13:13q14.11
benign
NM_003701.4(TNFSF11):c.-127C>G single nucleotide variant Autosomal recessive osteopetrosis 2 [RCV000272320] Chr13:42574177 [GRCh38]
Chr13:43148313 [GRCh37]
Chr13:13q14.11
benign
NM_003701.4(TNFSF11):c.-4C>T single nucleotide variant Autosomal recessive osteopetrosis 2 [RCV000333025] Chr13:42574300 [GRCh38]
Chr13:43148436 [GRCh37]
Chr13:13q14.11
uncertain significance
NM_003701.4(TNFSF11):c.98C>A (p.Pro33Gln) single nucleotide variant Autosomal recessive osteopetrosis 2 [RCV000293293]|not provided [RCV000882479] Chr13:42574401 [GRCh38]
Chr13:43148537 [GRCh37]
Chr13:13q14.11
benign|likely benign|uncertain significance
NM_003701.4(TNFSF11):c.*48T>C single nucleotide variant Autosomal recessive osteopetrosis 2 [RCV000276004] Chr13:42606966 [GRCh38]
Chr13:43181102 [GRCh37]
Chr13:13q14.11
benign|likely benign
NM_003701.4(TNFSF11):c.*704G>A single nucleotide variant Autosomal recessive osteopetrosis 2 [RCV000339510] Chr13:42607622 [GRCh38]
Chr13:43181758 [GRCh37]
Chr13:13q14.11
benign|likely benign
NM_003701.4(TNFSF11):c.*948G>T single nucleotide variant Autosomal recessive osteopetrosis 2 [RCV000363571] Chr13:42607866 [GRCh38]
Chr13:43182002 [GRCh37]
Chr13:13q14.11
benign
NM_003701.4(TNFSF11):c.*357C>T single nucleotide variant Autosomal recessive osteopetrosis 2 [RCV000342458] Chr13:42607275 [GRCh38]
Chr13:43181411 [GRCh37]
Chr13:13q14.11
uncertain significance
NM_003701.4(TNFSF11):c.424G>A (p.Ala142Thr) single nucleotide variant Autosomal recessive osteopetrosis 2 [RCV000365220] Chr13:42600788 [GRCh38]
Chr13:43174924 [GRCh37]
Chr13:13q14.11
uncertain significance
NM_003701.4(TNFSF11):c.*152A>G single nucleotide variant Autosomal recessive osteopetrosis 2 [RCV000281733] Chr13:42607070 [GRCh38]
Chr13:43181206 [GRCh37]
Chr13:13q14.11
uncertain significance
NM_003701.4(TNFSF11):c.924T>C (p.Phe308=) single nucleotide variant Autosomal recessive osteopetrosis 2 [RCV000371048]|not provided [RCV001510695] Chr13:42606888 [GRCh38]
Chr13:43181024 [GRCh37]
Chr13:13q14.11
benign|likely benign
NM_003701.4(TNFSF11):c.911A>G (p.Asp304Gly) single nucleotide variant Autosomal recessive osteopetrosis 2 [RCV000325756] Chr13:42606875 [GRCh38]
Chr13:43181011 [GRCh37]
Chr13:13q14.11
uncertain significance
NM_003701.4(TNFSF11):c.*383C>T single nucleotide variant Autosomal recessive osteopetrosis 2 [RCV000398171] Chr13:42607301 [GRCh38]
Chr13:43181437 [GRCh37]
Chr13:13q14.11
benign|likely benign
NM_003701.4(TNFSF11):c.433+5G>A single nucleotide variant not provided [RCV000382200] Chr13:42600802 [GRCh38]
Chr13:43174938 [GRCh37]
Chr13:13q14.11
uncertain significance
NM_003701.4(TNFSF11):c.-81C>A single nucleotide variant Autosomal recessive osteopetrosis 2 [RCV000327323] Chr13:42574223 [GRCh38]
Chr13:43148359 [GRCh37]
Chr13:13q14.11
uncertain significance
NM_003701.4(TNFSF11):c.*742G>A single nucleotide variant Autosomal recessive osteopetrosis 2 [RCV000398205] Chr13:42607660 [GRCh38]
Chr13:43181796 [GRCh37]
Chr13:13q14.11
benign|likely benign
NM_003701.4(TNFSF11):c.*745T>C single nucleotide variant Autosomal recessive osteopetrosis 2 [RCV000308843] Chr13:42607663 [GRCh38]
Chr13:43181799 [GRCh37]
Chr13:13q14.11
likely benign|uncertain significance
NM_003701.4(TNFSF11):c.403G>A (p.Val135Ile) single nucleotide variant Autosomal recessive osteopetrosis 2 [RCV000310352] Chr13:42600767 [GRCh38]
Chr13:43174903 [GRCh37]
Chr13:13q14.11
uncertain significance
NM_003701.4(TNFSF11):c.937G>A (p.Val313Ile) single nucleotide variant not provided [RCV000320694] Chr13:42606901 [GRCh38]
Chr13:43181037 [GRCh37]
Chr13:13q14.11
uncertain significance
NM_003701.4(TNFSF11):c.-74C>T single nucleotide variant Autosomal recessive osteopetrosis 2 [RCV000381878] Chr13:42574230 [GRCh38]
Chr13:43148366 [GRCh37]
Chr13:13q14.11
uncertain significance
NM_003701.4(TNFSF11):c.148G>A (p.Val50Met) single nucleotide variant Autosomal recessive osteopetrosis 2 [RCV000335242] Chr13:42574451 [GRCh38]
Chr13:43148587 [GRCh37]
Chr13:13q14.11
uncertain significance
NM_003701.4(TNFSF11):c.-141C>T single nucleotide variant Autosomal recessive osteopetrosis 2 [RCV000357406] Chr13:42574163 [GRCh38]
Chr13:43148299 [GRCh37]
Chr13:13q14.11
likely benign|uncertain significance
NM_003701.4(TNFSF11):c.*333_*343del deletion Osteopetrosis [RCV000278049] Chr13:42607251..42607261 [GRCh38]
Chr13:43181387..43181397 [GRCh37]
Chr13:13q14.11
uncertain significance
NM_003701.4(TNFSF11):c.254A>T (p.His85Leu) single nucleotide variant Autosomal recessive osteopetrosis 2 [RCV000359302] Chr13:42581160 [GRCh38]
Chr13:43155296 [GRCh37]
Chr13:13q14.11
uncertain significance
NM_003701.4(TNFSF11):c.107C>G (p.Pro36Arg) single nucleotide variant Autosomal recessive osteopetrosis 2 [RCV000338886]|not provided [RCV001520321] Chr13:42574410 [GRCh38]
Chr13:43148546 [GRCh37]
Chr13:13q14.11
benign|likely benign
NM_003701.4(TNFSF11):c.45G>A (p.Ser15=) single nucleotide variant Autosomal recessive osteopetrosis 2 [RCV000387579]|not provided [RCV001491414] Chr13:42574348 [GRCh38]
Chr13:43148484 [GRCh37]
Chr13:13q14.11
likely benign|uncertain significance
NM_003701.4(TNFSF11):c.*159G>A single nucleotide variant Autosomal recessive osteopetrosis 2 [RCV000318040] Chr13:42607077 [GRCh38]
Chr13:43181213 [GRCh37]
Chr13:13q14.11
uncertain significance
NM_003701.4(TNFSF11):c.-144G>C single nucleotide variant Autosomal recessive osteopetrosis 2 [RCV000318874] Chr13:42574160 [GRCh38]
Chr13:43148296 [GRCh37]
Chr13:13q14.11
uncertain significance
NM_003701.4(TNFSF11):c.*94T>G single nucleotide variant Autosomal recessive osteopetrosis 2 [RCV000331113] Chr13:42607012 [GRCh38]
Chr13:43181148 [GRCh37]
Chr13:13q14.11
uncertain significance
NM_003701.4(TNFSF11):c.*113G>A single nucleotide variant Autosomal recessive osteopetrosis 2 [RCV000385630] Chr13:42607031 [GRCh38]
Chr13:43181167 [GRCh37]
Chr13:13q14.11
uncertain significance
NM_003701.4(TNFSF11):c.-64C>G single nucleotide variant Autosomal recessive osteopetrosis 2 [RCV000287483] Chr13:42574240 [GRCh38]
Chr13:43148376 [GRCh37]
Chr13:13q14.11
uncertain significance
NM_003701.4(TNFSF11):c.851G>A (p.Arg284Gln) single nucleotide variant Autosomal recessive osteopetrosis 2 [RCV001109539]|not provided [RCV000596034] Chr13:42606815 [GRCh38]
Chr13:43180951 [GRCh37]
Chr13:13q14.11
uncertain significance
GRCh37/hg19 13q12.11-34(chr13:19571503-115092510) copy number gain See cases [RCV000449142] Chr13:19571503..115092510 [GRCh37]
Chr13:13q12.11-34
pathogenic
GRCh37/hg19 13q14.11-31.3(chr13:42457841-91796698)x1 copy number loss See cases [RCV000446747] Chr13:42457841..91796698 [GRCh37]
Chr13:13q14.11-31.3
pathogenic
GRCh37/hg19 13q13.1-21.31(chr13:32946120-62698217)x1 copy number loss See cases [RCV000446067] Chr13:32946120..62698217 [GRCh37]
Chr13:13q13.1-21.31
pathogenic
GRCh37/hg19 13q11-34(chr13:19436286-115107733)x3 copy number gain See cases [RCV000445886] Chr13:19436286..115107733 [GRCh37]
Chr13:13q11-34
pathogenic
GRCh37/hg19 13q14.11(chr13:43146433-43187994) copy number gain Abnormality of esophagus morphology [RCV000416713] Chr13:43146433..43187994 [GRCh37]
Chr13:13q14.11
likely benign
GRCh37/hg19 13q11-34(chr13:19436287-115107733) copy number gain See cases [RCV000510405] Chr13:19436287..115107733 [GRCh37]
Chr13:13q11-34
pathogenic
GRCh37/hg19 13q11-34(chr13:19436287-115107733)x3 copy number gain See cases [RCV000511880] Chr13:19436287..115107733 [GRCh37]
Chr13:13q11-34
pathogenic
NM_003701.4(TNFSF11):c.83G>A (p.Gly28Asp) single nucleotide variant Autosomal recessive osteopetrosis 2 [RCV001111745]|not provided [RCV000597863] Chr13:42574386 [GRCh38]
Chr13:43148522 [GRCh37]
Chr13:13q14.11
uncertain significance
GRCh37/hg19 13q14.11(chr13:43163675-43717925)x4 copy number gain not provided [RCV000683531] Chr13:43163675..43717925 [GRCh37]
Chr13:13q14.11
uncertain significance
GRCh37/hg19 13q14.11(chr13:43159134-44041338)x4 copy number gain not provided [RCV000683538] Chr13:43159134..44041338 [GRCh37]
Chr13:13q14.11
uncertain significance
GRCh37/hg19 13q11-22.1(chr13:19436286-74045459)x3 copy number gain not provided [RCV000683572] Chr13:19436286..74045459 [GRCh37]
Chr13:13q11-22.1
pathogenic
GRCh37/hg19 13q11-34(chr13:19058717-115103529)x3 copy number gain not provided [RCV000738115] Chr13:19058717..115103529 [GRCh37]
Chr13:13q11-34
pathogenic
GRCh37/hg19 13q11-34(chr13:19031237-115107157)x3 copy number gain not provided [RCV000750643] Chr13:19031237..115107157 [GRCh37]
Chr13:13q11-34
pathogenic
GRCh37/hg19 13q14.11(chr13:43168660-43748849)x3 copy number gain not provided [RCV000750698] Chr13:43168660..43748849 [GRCh37]
Chr13:13q14.11
likely benign
NM_003701.4(TNFSF11):c.606C>T (p.Ser202=) single nucleotide variant not provided [RCV000976737] Chr13:42606570 [GRCh38]
Chr13:43180706 [GRCh37]
Chr13:13q14.11
likely benign
NM_003701.4(TNFSF11):c.101C>G (p.Pro34Arg) single nucleotide variant not provided [RCV000891579] Chr13:42574404 [GRCh38]
Chr13:43148540 [GRCh37]
Chr13:13q14.11
benign
NM_003701.4(TNFSF11):c.520G>A (p.Asp174Asn) single nucleotide variant Autosomal recessive osteopetrosis 2 [RCV001115164] Chr13:42600969 [GRCh38]
Chr13:43175105 [GRCh37]
Chr13:13q14.11
uncertain significance
NM_003701.4(TNFSF11):c.434-9C>T single nucleotide variant not provided [RCV000892300] Chr13:42600874 [GRCh38]
Chr13:43175010 [GRCh37]
Chr13:13q14.11
likely benign
NM_003701.4(TNFSF11):c.183C>A (p.Val61=) single nucleotide variant not provided [RCV000929036] Chr13:42574486 [GRCh38]
Chr13:43148622 [GRCh37]
Chr13:13q14.11
likely benign
NM_003701.4(TNFSF11):c.435G>A (p.Ala145=) single nucleotide variant Autosomal recessive osteopetrosis 2 [RCV001115163] Chr13:42600884 [GRCh38]
Chr13:43175020 [GRCh37]
Chr13:13q14.11
uncertain significance
NM_003701.4(TNFSF11):c.845A>C (p.Lys282Thr) single nucleotide variant Autosomal recessive osteopetrosis 2 [RCV001115167]|not provided [RCV001300246] Chr13:42606809 [GRCh38]
Chr13:43180945 [GRCh37]
Chr13:13q14.11
uncertain significance
NM_003701.4(TNFSF11):c.533-8C>T single nucleotide variant Autosomal recessive osteopetrosis 2 [RCV001115165] Chr13:42606489 [GRCh38]
Chr13:43180625 [GRCh37]
Chr13:13q14.11
uncertain significance
NM_003701.4(TNFSF11):c.712C>T (p.Leu238=) single nucleotide variant not provided [RCV000898090] Chr13:42606676 [GRCh38]
Chr13:43180812 [GRCh37]
Chr13:13q14.11
likely benign
NM_003701.4(TNFSF11):c.903G>A (p.Pro301=) single nucleotide variant not provided [RCV000917257] Chr13:42606867 [GRCh38]
Chr13:43181003 [GRCh37]
Chr13:13q14.11
likely benign
GRCh37/hg19 13q11-34(chr13:19436286-115107733)x3 copy number gain not provided [RCV000849129] Chr13:19436286..115107733 [GRCh37]
Chr13:13q11-34
pathogenic
NM_003701.4(TNFSF11):c.*261G>A single nucleotide variant Autosomal recessive osteopetrosis 2 [RCV001111825] Chr13:42607179 [GRCh38]
Chr13:43181315 [GRCh37]
Chr13:13q14.11
uncertain significance
NM_003701.4(TNFSF11):c.433+13C>G single nucleotide variant Autosomal recessive osteopetrosis 2 [RCV001115162] Chr13:42600810 [GRCh38]
Chr13:43174946 [GRCh37]
Chr13:13q14.11
uncertain significance
NM_003701.4(TNFSF11):c.849A>G (p.Leu283=) single nucleotide variant Autosomal recessive osteopetrosis 2 [RCV001115168] Chr13:42606813 [GRCh38]
Chr13:43180949 [GRCh37]
Chr13:13q14.11
uncertain significance
NM_003701.4(TNFSF11):c.*119C>T single nucleotide variant Autosomal recessive osteopetrosis 2 [RCV001109540] Chr13:42607037 [GRCh38]
Chr13:43181173 [GRCh37]
Chr13:13q14.11
uncertain significance
NM_003701.4(TNFSF11):c.220-94G>A single nucleotide variant not provided [RCV001541578] Chr13:42581032 [GRCh38]
Chr13:43155168 [GRCh37]
Chr13:13q14.11
benign
NM_003701.4(TNFSF11):c.396A>G (p.Gln132=) single nucleotide variant Autosomal recessive osteopetrosis 2 [RCV001112189]|not provided [RCV000888772] Chr13:42600760 [GRCh38]
Chr13:43174896 [GRCh37]
Chr13:13q14.11
benign
NM_003701.4(TNFSF11):c.66C>G (p.Pro22=) single nucleotide variant not provided [RCV000942889] Chr13:42574369 [GRCh38]
Chr13:43148505 [GRCh37]
Chr13:13q14.11
likely benign
NM_003701.4(TNFSF11):c.783C>G (p.Thr261=) single nucleotide variant not provided [RCV000935828] Chr13:42606747 [GRCh38]
Chr13:43180883 [GRCh37]
Chr13:13q14.11
likely benign
NM_003701.4(TNFSF11):c.-104C>T single nucleotide variant Autosomal recessive osteopetrosis 2 [RCV001109425] Chr13:42574200 [GRCh38]
Chr13:43148336 [GRCh37]
Chr13:13q14.11
uncertain significance
NM_003701.4(TNFSF11):c.-7G>C single nucleotide variant Autosomal recessive osteopetrosis 2 [RCV001109427] Chr13:42574297 [GRCh38]
Chr13:43148433 [GRCh37]
Chr13:13q14.11
uncertain significance
NM_003701.4(TNFSF11):c.*242A>G single nucleotide variant Autosomal recessive osteopetrosis 2 [RCV001111824] Chr13:42607160 [GRCh38]
Chr13:43181296 [GRCh37]
Chr13:13q14.11
uncertain significance
NM_003701.4(TNFSF11):c.*788T>C single nucleotide variant Autosomal recessive osteopetrosis 2 [RCV001112291] Chr13:42607706 [GRCh38]
Chr13:43181842 [GRCh37]
Chr13:13q14.11
uncertain significance
NM_003701.4(TNFSF11):c.420C>G (p.Ile140Met) single nucleotide variant Autosomal recessive osteopetrosis 2 [RCV001112190] Chr13:42600784 [GRCh38]
Chr13:43174920 [GRCh37]
Chr13:13q14.11
uncertain significance
GRCh37/hg19 13q14.11(chr13:43163675-43887005)x3 copy number gain not provided [RCV001006561] Chr13:43163675..43887005 [GRCh37]
Chr13:13q14.11
uncertain significance
NM_003701.4(TNFSF11):c.-147C>T single nucleotide variant Autosomal recessive osteopetrosis 2 [RCV001115066] Chr13:42574157 [GRCh38]
Chr13:43148293 [GRCh37]
Chr13:13q14.11
uncertain significance
NM_003701.4(TNFSF11):c.618A>G (p.Leu206=) single nucleotide variant Autosomal recessive osteopetrosis 2 [RCV001115166] Chr13:42606582 [GRCh38]
Chr13:43180718 [GRCh37]
Chr13:13q14.11
uncertain significance
NM_003701.4(TNFSF11):c.-94C>T single nucleotide variant Autosomal recessive osteopetrosis 2 [RCV001109426] Chr13:42574210 [GRCh38]
Chr13:43148346 [GRCh37]
Chr13:13q14.11
uncertain significance
NM_003701.4(TNFSF11):c.*158C>T single nucleotide variant Autosomal recessive osteopetrosis 2 [RCV001111822] Chr13:42607076 [GRCh38]
Chr13:43181212 [GRCh37]
Chr13:13q14.11
uncertain significance
NM_003701.4(TNFSF11):c.*221G>C single nucleotide variant Autosomal recessive osteopetrosis 2 [RCV001111823] Chr13:42607139 [GRCh38]
Chr13:43181275 [GRCh37]
Chr13:13q14.11
uncertain significance
NM_003701.4(TNFSF11):c.*667A>G single nucleotide variant Autosomal recessive osteopetrosis 2 [RCV001112289] Chr13:42607585 [GRCh38]
Chr13:43181721 [GRCh37]
Chr13:13q14.11
uncertain significance
NM_003701.4(TNFSF11):c.*754A>C single nucleotide variant Autosomal recessive osteopetrosis 2 [RCV001112290] Chr13:42607672 [GRCh38]
Chr13:43181808 [GRCh37]
Chr13:13q14.11
uncertain significance
NM_003701.4(TNFSF11):c.434C>T (p.Ala145Val) single nucleotide variant not provided [RCV001362041] Chr13:42600883 [GRCh38]
Chr13:43175019 [GRCh37]
Chr13:13q14.11
uncertain significance
NM_003701.4(TNFSF11):c.110C>G (p.Ala37Gly) single nucleotide variant not provided [RCV001324065] Chr13:42574413 [GRCh38]
Chr13:43148549 [GRCh37]
Chr13:13q14.11
uncertain significance
NM_003701.4(TNFSF11):c.263A>G (p.Tyr88Cys) single nucleotide variant not provided [RCV001310053] Chr13:42581169 [GRCh38]
Chr13:43155305 [GRCh37]
Chr13:13q14.11
uncertain significance
GRCh37/hg19 13q11-34(chr13:19053605-115108528)x3 copy number gain See cases [RCV001353184] Chr13:19053605..115108528 [GRCh37]
Chr13:13q11-34
pathogenic
NM_003701.4(TNFSF11):c.433+19A>T single nucleotide variant not provided [RCV001473593] Chr13:42600816 [GRCh38]
Chr13:43174952 [GRCh37]
Chr13:13q14.11
likely benign
NM_003701.4(TNFSF11):c.759T>C (p.His253=) single nucleotide variant not provided [RCV001410744] Chr13:42606723 [GRCh38]
Chr13:43180859 [GRCh37]
Chr13:13q14.11
likely benign
NM_003701.4(TNFSF11):c.2T>G (p.Met1Arg) single nucleotide variant Autosomal recessive osteopetrosis 2 [RCV001535769] Chr13:42574305 [GRCh38]
Chr13:43148441 [GRCh37]
Chr13:13q14.11
not provided
NM_003701.4(TNFSF11):c.219+16C>T single nucleotide variant not provided [RCV001513151] Chr13:42574538 [GRCh38]
Chr13:43148674 [GRCh37]
Chr13:13q14.11
benign

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:11926 AgrOrtholog
COSMIC TNFSF11 COSMIC
Ensembl Genes ENSG00000120659 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Protein ENSP00000239849 UniProtKB/Swiss-Prot
  ENSP00000351347 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000381775 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000384042 UniProtKB/Swiss-Prot
  ENSP00000444913 ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000239849 UniProtKB/Swiss-Prot
  ENST00000358545 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000398795 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000405262 UniProtKB/Swiss-Prot
  ENST00000544862 ENTREZGENE, UniProtKB/Swiss-Prot
Gene3D-CATH 2.60.120.40 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000120659 GTEx
HGNC ID HGNC:11926 ENTREZGENE
Human Proteome Map TNFSF11 Human Proteome Map
InterPro TNF_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TNF_ligand_10/11 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Tumour_necrosis_fac-like_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:8600 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 8600 ENTREZGENE
OMIM 259710 OMIM
  602642 OMIM
Pfam TNF UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA36619 PharmGKB
PIRSF TNF10_TNF11 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE TNF_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART TNF UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF49842 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt O14788 ENTREZGENE
  Q54A98 ENTREZGENE, UniProtKB/TrEMBL
  Q5T9Y4 ENTREZGENE, UniProtKB/TrEMBL
  TNF11_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary O14723 UniProtKB/Swiss-Prot
  Q96Q17 UniProtKB/Swiss-Prot
  Q9P2Q3 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2017-03-07 TNFSF11  TNF superfamily member 11  TNFSF11  tumor necrosis factor superfamily member 11  Symbol and/or name change 5135510 APPROVED
2015-11-24 TNFSF11  tumor necrosis factor superfamily member 11  TNFSF11  tumor necrosis factor (ligand) superfamily, member 11  Symbol and/or name change 5135510 APPROVED