Gene Gene information from NCBI Gene database.
Entrez ID 8742
Gene name TNF superfamily member 12
Gene symbol TNFSF12
Synonyms (NCBI Gene)
APO3LDR3LGTNF12TNLG4ATWEAK
Chromosome 17
Chromosome location 17p13.1
Summary The protein encoded by this gene is a cytokine that belongs to the tumor necrosis factor (TNF) ligand family. This protein is a ligand for the FN14/TWEAKR receptor. This cytokine has overlapping signaling functions with TNF, but displays a much wider tiss
miRNA miRNA information provided by mirtarbase database.
10
miRTarBase ID miRNA Experiments Reference
MIRT004681 hsa-miR-17-5p Luciferase reporter assay 19478946
MIRT024478 hsa-miR-215-5p Microarray 19074876
MIRT051945 hsa-let-7b-5p CLASH 23622248
MIRT1443367 hsa-miR-548c-3p CLIP-seq
MIRT2132678 hsa-miR-1275 CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
32
GO ID Ontology Definition Evidence Reference
GO:0001525 Process Angiogenesis IEA
GO:0001938 Process Positive regulation of endothelial cell proliferation TAS 14961121
GO:0005102 Function Signaling receptor binding IEA
GO:0005102 Function Signaling receptor binding TAS 9560343
GO:0005125 Function Cytokine activity IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
602695 11927 ENSG00000239697
Protein Protein information from UniProt database.
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
MAARRSQRRRGRRGEPGTALLVPLALGLGLALACLGLLLAVVSLGSRASLSAQEPAQEEL
VAEEDQDPSELNPQTEESQDPAPFLNRLVRPRRSAPKGRKTRARRAIAAHYEVHPRPGQD
GAQAGVDGTVSGWEEARINSSSPLRYNRQIGEFIVTRAGLYYLYCQVHFDEGKAVYLKLD
LLVDGVLALRCLEEFSATAASSLGPQLRLCQVSGLLALRPGSSLRIRTLPWAHLKAAPFL
TYFGLFQV
H
Sequence length 249
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Cytokine-cytokine receptor interaction   TNFR2 non-canonical NF-kB pathway
TNF receptor superfamily (TNFSF) members mediating non-canonical NF-kB pathway
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
223
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
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
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
Associations from Text MiningDisease associations identified through Pubtator
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