|
UniProt ID
Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
|
O43508 |
| Protein name |
Tumor necrosis factor ligand superfamily member 12 (APO3 ligand) (TNF-related weak inducer of apoptosis) (TWEAK) [Cleaved into: Tumor necrosis factor ligand superfamily member 12, membrane form; Tumor necrosis factor ligand superfamily member 12, secreted |
| Protein function |
Binds to FN14 and possibly also to TNRFSF12/APO3. Weak inducer of apoptosis in some cell types. Mediates NF-kappa-B activation. Promotes angiogenesis and the proliferation of endothelial cells. Also involved in induction of inflammatory cytokine |
| PDB |
4HT1
|
| Family and domains |
Pfam
| Accession |
ID |
Position in sequence |
Description |
Type |
| PF00229 |
TNF |
131 → 248 |
TNF(Tumour Necrosis Factor) family |
Domain |
|
| Tissue specificity |
TISSUE SPECIFICITY: Highly expressed in adult heart, pancreas, skeletal muscle, brain, colon, small intestine, lung, ovary, prostate, spleen, lymph node, appendix and peripheral blood lymphocytes. Low expression in kidney, testis, liver, placenta, thymus |
| Sequence |
|
| Sequence length |
249 |
| Interactions |
View interactions |
| Phenotype Name |
Clinical Significance |
dbSNP ID |
RCV Accession |
| Common variable immunodeficiency |
Uncertain significance; Likely benign; Benign; Conflicting classifications of pathogenicity |
rs2070984006, rs2070984989, rs2070971587, rs746979506, rs1432222435, rs770131727, rs898490512, rs2070983662, rs2150909109, rs139642600, rs1323154572, rs2150904074, rs2150904254, rs764045774, rs1167726401, rs2150904642, rs2150904657, rs140608168, rs77711855, rs137994694, rs751381442, rs62059804, rs1187061850, rs764223156, rs758492571, rs1386396522, rs749853561, rs753098151, rs2150909054, rs1207281513, rs1211322156, rs1390303105, rs2070969376, rs1196455086, rs776034989, rs1486694236, rs771459468, rs1295184449, rs2150909548, rs149050050, rs748479475, rs764630895, rs369851985, rs551460083, rs2070968615, rs765689290, rs1432703775, rs1411564411, rs2070971132, rs2150904090, rs532271559, rs1230643396, rs2150904004, rs2150904255, rs1191670290, rs150816164, rs764718533, rs535840017, rs1274339400, rs1363429844, rs1051286778, rs576803878, rs1367179093, rs2150909482, rs1036232885, rs1239258225, rs908438555, rs761260715, rs1237382978, rs993444940, rs370242260, rs1326993093, rs1266540123, rs751618286, rs2508362024, rs748996775, rs1410537140, rs149475179, rs2070974260, rs1236608050, rs769757755, rs2071084981, rs2508319232, rs2070970283, rs1003055172, rs781196267, rs2070992023, rs2508308319, rs534969361, rs1304494728, rs1250131280, rs559336720, rs758038102, rs1463259779, rs751148642, rs2070975845, rs371341735, rs771252165, rs2508313406, rs1255515520, rs2508362791, rs2508362258, rs540997935, rs2508358551, rs2508305308, rs2508363430, rs764236967, rs1169592518, rs1484448349, rs200558366, rs1174250938, rs61761339, rs912497750, rs1300908179, rs755822673, rs1171699933, rs2071075728, rs1411793424, rs750728058, rs996689091, rs1047001645, rs2070984555, rs2508312965, rs2071085726, rs2508304937, rs1188875947, rs1597828738, rs2071083251, rs2508318497, rs2508364884, rs2508307992, rs1318143254, rs1278063774, rs3803798, rs767275320, rs1013121027, rs141377098, rs372536541, rs758090917, rs1437809803, rs2508318395, rs2508303798, rs2070983793, rs2070984406, rs771643936, rs2508358136, rs2508357666, rs2508313317, rs1319644977, rs2508357956, rs765748512, rs750825866, rs909633563, rs1597822472, rs1482129388, rs114577645, rs1356188583, rs4968189, rs768061768, rs1170763703, rs143039184, rs147597489, rs868687352, rs1414804824, rs753259588, rs576689580, rs1413049593, rs745967426, rs200059075, rs761947704, rs770924960, rs200770110, rs367612596, rs529570679, rs958789070, rs756671729, rs747019973, rs2070984742, rs145233196, rs200575102, rs1368698594, rs371762842, rs763175605, rs370085069, rs753366720, rs2070995050, rs2071082084, rs144468031, rs376560567, rs2071085086, rs2071085410, rs2070970743, rs746536507, rs777759037 View all (179 more) |
RCV001314995 RCV001316114 RCV001343320 RCV001344002 RCV001371150 RCV001373586 RCV001404754 RCV001413798 RCV001394703 RCV001428032 RCV001446845 RCV001477922 RCV001470915 RCV001464195 RCV001492416 RCV001495887 RCV001502566 RCV001484880 RCV001519290 RCV001517405 RCV001520106 RCV001514027 RCV002035816 RCV002039097 RCV001870304 RCV001925569 RCV001904343 RCV001945256 RCV001904825 RCV001945349 RCV001987474 RCV001900126 RCV002031502 RCV001955705 RCV001976000 RCV001943751 RCV002051494 RCV001908674 RCV001887154 RCV001997486 RCV001954787 RCV001933787 RCV002049924 RCV001936852 RCV001991470 RCV001936065 RCV002001041 RCV002020803 RCV002049386 RCV001891907 RCV002003579 RCV001987162 RCV002001982 RCV001974677 RCV002015839 RCV001963562 RCV002024859 RCV002170591 RCV002084439 RCV002165745 RCV002116771 RCV002152856 RCV002111212 RCV002213030 RCV002071426 RCV002141280 RCV002196129 RCV002195529 RCV002179690 RCV002167290 RCV002128679 RCV002107893 RCV002082892 RCV002128197 RCV002195856 RCV002299627 RCV003066730 RCV003072411 RCV003093686 RCV003085161 RCV003085162 RCV002579040 RCV003080075 RCV002602777 RCV003118380 RCV002590781 RCV002642285 RCV002636003 RCV002671206 RCV002671274 RCV002701508 RCV002721410 RCV002717175 RCV002727322 RCV002711714 RCV002790752 RCV002756321 RCV002805553 RCV002828582 RCV002902932 RCV002895378 RCV002947828 RCV002947843 RCV002928084 RCV003033420 RCV003029331 RCV003019390 RCV003014867 RCV001358814 RCV003592537 RCV003592550 RCV003592581 RCV003592495 RCV003592627 RCV003592812 RCV003592757 RCV003592885 RCV003593220 RCV003591131 RCV003591190 RCV003593284 RCV003591357 RCV003591464 RCV003591450 RCV003592097 RCV003592138 RCV003757293 RCV003757280 RCV003757291 RCV003757410 RCV003757371 RCV003757431 RCV003757463 RCV003757485 RCV003757499 RCV003757543 RCV003757548 RCV003757636 RCV003757639 RCV003757758 RCV003757897 RCV003757931 RCV003757954 RCV003756670 RCV003756702 RCV003756665 RCV003756730 RCV003756789 RCV003758078 RCV003756787 RCV003758019 RCV003758109 RCV003756752 RCV003756828 RCV003756922 RCV003757071 RCV003811304 RCV003810866 RCV003828890 RCV003827580 RCV003839662 RCV003845961 RCV003844498 RCV003851543 RCV003876694 RCV000534951 RCV000547585 RCV000528292 RCV000540871 RCV001516487 RCV000630449 RCV000630451 RCV000630452 RCV000630450 RCV000687823 RCV000685300 RCV000688437 RCV001855950 RCV000814247 RCV000810812 RCV000793911 RCV000804271 RCV000791590 RCV000880959 RCV001401052 RCV001502335 RCV000922049 RCV003591821 RCV005092939 RCV001068433 RCV001053163 RCV001034798 RCV001051382 RCV001039636 RCV001038437 RCV001051498 RCV001217831 RCV001216877 RCV001216686 RCV001201924 RCV001207346 RCV001230816 RCV001231070 RCV001226939 RCV001242273 RCV001244581 RCV001242311 RCV001244644 RCV001306532 RCV001298390 RCV001309056 |
| Immunodeficiency, common variable, 10 |
Uncertain significance |
rs768061768 |
RCV005863229 |
| See cases |
Uncertain significance |
rs768061768 |
RCV001420611 |
| TNFSF12-related disorder |
Uncertain significance; Benign; Likely benign; Conflicting classifications of pathogenicity |
rs1196455086, rs765689290, rs114577645, rs140608168, rs143039184, rs576689580, rs145233196, rs370085069 |
RCV003418236 RCV003401913 RCV003905323 RCV003905324 RCV003935748 RCV003413552 RCV003898046 RCV003396819 |
|
| Disease Name |
Relationship Type |
References |
| Adenocarcinoma of Lung |
Associate |
35707713 |
| Alzheimer Disease |
Associate |
37584418 |
| Arthritis Psoriatic |
Stimulate |
27338143 |
| Arthritis Rheumatoid |
Associate |
19147618, 21435232, 22019378, 34868079, 35360114 |
| Asthma |
Associate |
30676129 |
| Atherosclerosis |
Associate |
15056843 |
| Atrial Fibrillation |
Associate |
35292824 |
| Atrial Fibrillation |
Inhibit |
37581400 |
| Attention Deficit Disorder with Hyperactivity |
Associate |
38066446 |
| Autoimmune Diseases |
Associate |
24056367, 35707713 |
| Autoimmune Diseases of the Nervous System |
Associate |
28351660 |
| Burns |
Associate |
23816995 |
| Calcinosis |
Associate |
27441657 |
| Carcinoma Hepatocellular |
Associate |
35125824 |
| Carcinoma Non Small Cell Lung |
Associate |
24469836 |
| Carcinoma Renal Cell |
Associate |
21483105 |
| Carcinoma Squamous Cell |
Stimulate |
22438963 |
| Carcinoma Squamous Cell |
Associate |
30414907 |
| Cardiovascular Diseases |
Associate |
26728587, 27441657 |
| Chronic Disease |
Associate |
26931128 |
| Chronic Kidney Disease Mineral and Bone Disorder |
Associate |
26728587 |
| Common Variable Immunodeficiency |
Associate |
33859323 |
| Communicable Diseases |
Associate |
21762126 |
| COVID 19 |
Associate |
38066446 |
| Dermatomyositis |
Inhibit |
24467773 |
| Disease Progression |
Inhibit |
34193611 |
| Drug Related Side Effects and Adverse Reactions |
Associate |
11067885, 21249128 |
| Eczema |
Associate |
21765951 |
| Encephalitis |
Associate |
36292599 |
| Endometrial Neoplasms |
Associate |
35169075 |
| Femur Head Necrosis |
Associate |
38115279 |
| Fibrosis |
Associate |
26931128, 27050952 |
| Frontotemporal Dementia |
Stimulate |
36890594 |
| Fuchs' Endothelial Dystrophy |
Associate |
21762126 |
| Glioblastoma |
Associate |
19861406, 37567906 |
| Glioma |
Associate |
12651623, 15611130, 19861406, 23775076, 26764186 |
| Glomerulonephritis |
Associate |
37466605 |
| Graves Disease |
Stimulate |
30576385 |
| Graves Ophthalmopathy |
Stimulate |
30576385 |
| Hypoxia |
Stimulate |
20382683 |
| IgA Vasculitis |
Stimulate |
21762126 |
| Infections |
Associate |
23493554 |
| Inflammation |
Stimulate |
15056843, 20382683, 22438963, 30676129 |
| Inflammation |
Associate |
17100776, 18945991, 21435232, 21762126, 23320797, 23651848, 23750247, 24056367, 26931128, 27050952, 27338143, 30009538, 30576385, 35360114, 35967338, 36942605, 40445960 View all (2 more) |
| Insulin Resistance |
Inhibit |
23651848 |
| Kidney Diseases |
Associate |
40445960 |
| Kidney Failure Chronic |
Inhibit |
34193611 |
| Kidney Neoplasms |
Associate |
21483105 |
| Latent Tuberculosis |
Associate |
31992621 |
| Leukemia Monocytic Acute |
Stimulate |
21762126 |
| Liver Cirrhosis |
Associate |
27907201 |
| Lung Neoplasms |
Associate |
24469836 |
| Lupus Erythematosus Systemic |
Associate |
12421989 |
| Lupus Erythematosus Systemic |
Stimulate |
28351660 |
| Melanoma |
Associate |
34638912 |
| Multiple Sclerosis |
Associate |
23320797, 29518260, 35967338, 36292599 |
| Muscle Neoplasms |
Associate |
26931128 |
| Muscle Weakness |
Associate |
23493554 |
| Muscular Atrophy |
Associate |
32624006 |
| Mycobacterium Infections Nontuberculous |
Stimulate |
31992621 |
| Mycobacterium Infections Nontuberculous |
Associate |
36321903 |
| Neoplasm Metastasis |
Associate |
26811494 |
| Neoplasm Metastasis |
Inhibit |
34638912 |
| Neoplasms |
Associate |
11067885, 23077618, 23469193, 24056367, 28467815, 33991013, 9560343 |
| Neoplasms |
Inhibit |
35707713 |
| Neuroinflammatory Diseases |
Associate |
23320797 |
| Obesity |
Associate |
20382683, 26658801 |
| Osteosarcoma |
Associate |
30014744 |
| Ovarian Neoplasms |
Inhibit |
23469193 |
| Pemphigoid Bullous |
Associate |
28351660 |
| Periodontal Diseases |
Associate |
17100776 |
| Periodontitis |
Associate |
35360114 |
| Plaque Atherosclerotic |
Associate |
15056843, 27441657 |
| Polymyositis |
Inhibit |
24467773 |
| Prostate cancer familial |
Associate |
29095436 |
| Prostatic Neoplasms |
Associate |
22019378, 23077618, 31500625 |
| Proteinuria |
Associate |
37466605 |
| Psoriasis |
Stimulate |
22438963 |
| Pulmonary Disease Chronic Obstructive |
Associate |
30178857 |
| Purpura Thrombocytopenic Idiopathic |
Stimulate |
23869085 |
| Renal Tubular Transport Inborn Errors |
Associate |
37466605 |
| Sarcoma |
Associate |
30014744 |
| Sarcopenia |
Associate |
36821647 |
| Skin Diseases |
Associate |
22438963 |
| Smooth Muscle Tumor |
Associate |
27441657 |
| Spinal Cord Injuries |
Associate |
26931128 |
| Stomach Neoplasms |
Associate |
26811494 |
| Synovitis |
Associate |
27338143 |
| Tooth Erosion |
Associate |
21435232 |
| Vasculitis |
Associate |
32734361 |
|