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TNFAIP3 (TNF alpha induced protein 3)

Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
7128
Gene nameGene Name - the full gene name approved by the HGNC.
TNF alpha induced protein 3
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
TNFAIP3
SynonymsGene synonyms aliases
A20, AIFBL1, AISBL, OTUD7C, TNFA1P2
ChromosomeChromosome number
6
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
6q23.3
SummarySummary of gene provided in NCBI Entrez Gene.
This gene was identified as a gene whose expression is rapidly induced by the tumor necrosis factor (TNF). The protein encoded by this gene is a zinc finger protein and ubiqitin-editing enzyme, and has been shown to inhibit NF-kappa B activation as well a
SNPsSNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs864321625 T>A Pathogenic Stop gained, coding sequence variant
rs864321626 C>T Pathogenic Stop gained, coding sequence variant
rs864321682 T>- Pathogenic Frameshift variant, coding sequence variant
rs864321683 G>- Pathogenic Frameshift variant, coding sequence variant
rs864321684 C>G Pathogenic Stop gained, coding sequence variant
miRNAmiRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT005955 hsa-miR-21-5p Luciferase reporter assay 21131358
MIRT005955 hsa-miR-21-5p Luciferase reporter assay 21131358
MIRT006380 hsa-miR-29a-3p Luciferase reporter assay 21763284
MIRT006380 hsa-miR-29a-3p Luciferase reporter assay 21763284
MIRT006471 hsa-miR-125a-5p qRT-PCR, Western blot 22550173
Transcription factors
Transcription factor Regulation Reference
NFKB1 Activation 11880364;19343319
NFKB1 Unknown 10807933
PML Repression 12080044
REL Activation 11880364
RELA Activation 11880364;19343319
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0001922 Process B-1 B cell homeostasis ISS
GO:0002020 Function Protease binding IPI 18223652
GO:0002237 Process Response to molecule of bacterial origin IDA 19912257
GO:0002634 Process Regulation of germinal center formation ISS
GO:0002677 Process Negative regulation of chronic inflammatory response IEA
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM
HGNC
e!Ensembl
Protein
UniProt ID P21580
Protein name Tumor necrosis factor alpha-induced protein 3 (TNF alpha-induced protein 3) (EC 2.3.2.-) (EC 3.4.19.12) (OTU domain-containing protein 7C) (Putative DNA-binding protein A20) (Zinc finger protein A20) [Cleaved into: A20p50; A20p37]
Protein function Ubiquitin-editing enzyme that contains both ubiquitin ligase and deubiquitinase activities. Involved in immune and inflammatory responses signaled by cytokines, such as TNF-alpha and IL-1 beta, or pathogens via Toll-like receptors (TLRs) through
PDB 2EQE , 2EQF , 2EQG , 2VFJ , 3DKB , 3OJ3 , 3OJ4 , 3VUW , 3VUX , 3VUY , 3ZJD , 3ZJE , 3ZJF , 3ZJG , 5LRX , 5V3B , 5V3P
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF02338 OTU
98 257
OTU-like cysteine protease
Family
PF01754 zf-A20
385 409
A20-like zinc finger
Family
PF01754 zf-A20
476 500
A20-like zinc finger
Family
PF01754 zf-A20
655 678
A20-like zinc finger
Family
PF01754 zf-A20
760 784
A20-like zinc finger
Family
Sequence
MAEQVLPQALYLSNMRKAVKIRERTPEDIFKPTNGIIHHFKTMHRYTLEMFRTCQFCPQF
REIIHKALIDRNIQATLESQKKLNWCREVRKLVALKTNGDGNCLMHATSQYMWGVQDTDL
VLRKALFSTLKETDTRNFKFRWQLESLKSQEFVETGLCYDTRNWNDEWDNLIKMASTDTP
MARSGLQYNSLEEIHIFVLCNILRRPIIVISDKMLRSLESGSNFAPLKVGGIYLPLHWPA
QECYRYPIVLGYDSHHF
VPLVTLKDSGPEIRAVPLVNRDRGRFEDLKVHFLTDPENEMKE
KLLKEYLMVIEIPVQGWDHGTTHLINAAKLDEANLPKEINLVDDYFELVQHEYKKWQENS
EQGRREGHAQNPMEPSVPQLSLMDVKCETPNCPFFMSVNTQPLCHECSERRQKNQNKLPK
LNSKPGPEGLPGMALGASRGEAYEPLAWNPEESTGGPHSAPPTAPSPFLFSETTAMKCRS
PGCPFTLNVQHNGFCERCHN
ARQLHASHAPDHTRHLDPGKCQACLQDVTRTFNGICSTCF
KRTTAEASSSLSTSLPPSCHQRSKSDPSRLVRSPSPHSCHRAGNDAPAGCLSQAARTPGD
RTGTSKCRKAGCVYFGTPENKGFCTLCFIEYRENKHFAAASGKVSPTASRFQNTIPCLGR
ECGTLGSTMFEGYCQKCF
IEAQNQRFHEAKRTEEQLRSSQRRDVPRTTQSTSRPKCARAS
CKNILACRSEELCMECQHPNQRMGPGAHRGEPAPEDPPKQRCRAPACDHFGNAKCNGYCN
ECFQ
FKQMYG
Sequence length 790
Interactions View interactions
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
 
KEGG
 
Reactome
  NF-kappa B signaling pathway
Necroptosis
NOD-like receptor signaling pathway
IL-17 signaling pathway
TNF signaling pathway
Measles
Epstein-Barr virus infection
  NOD1/2 Signaling Pathway
TNFR1-induced proapoptotic signaling
Regulation of TNFR1 signaling
TNFR1-induced NFkappaB signaling pathway
Ovarian tumor domain proteases
Negative regulators of DDX58/IFIH1 signaling
Associated diseases
Causal
Disease name Disease term dbSNP ID References
Autoimmune diseases Autoimmune Diseases rs41285370, rs869025224 24453940
Autoimmune lymphoproliferative disorder Autoimmune Lymphoproliferative Syndrome rs17860424, rs112445441, rs121913529, rs121434596, rs80358236, rs606231361, rs606231362, rs121913076, rs606231363, rs121913077, rs28929498, rs121913080, rs267607122, rs606231364, rs606231365, rs121913085, rs606231366, rs121913086, rs121913237, rs121913535, rs398122958, rs606231296, rs886039524, rs121913527, rs1554851718, rs1295207359, rs1564699214, rs1564686301, rs1564696849, rs1564691414, rs747862347, rs1589482683, rs1589488463, rs1589488640, rs1589488494, rs1589465172, rs1589478691, rs1589485636, rs778993919, rs1842954041, rs1848315820, rs1207744817, rs1848558128, rs1848671126, rs1848675068, rs1848019699 29317407
Autoinflammatory disease Autoinflammatory disorder, AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE, Hereditary Autoinflammatory Diseases rs777759523, rs121434352, rs28940578, rs28940580, rs121908146, rs121908148, rs121908150, rs80338807, rs121908679, rs104895319, rs104894176, rs28933973, rs28933376, rs137854447, rs61736587, rs148755083, rs104895093, rs104895311, rs104895364, rs104895352, rs104895271, rs104895238, rs151344629, rs180177431, rs376785840, rs587777241, rs77563738, rs202134424, rs864321625, rs864321682, rs864321626, rs864321684, rs864321685, rs869312838, rs869312953, rs766657895, rs140148806, rs753966933, rs764196809, rs200956636, rs147035858, rs1274685768, rs1600700389, rs1776278098, rs754904956, rs1760720617, rs1760720924 29317407, 26642243, 29317407, 27175295, 26642243
Lymphoma Lymphoma, Lymphoma, Follicular, Lymphoma, Large-Cell, Follicular, Lymphoma, Mixed-Cell, Follicular, Lymphoma, Small Cleaved-Cell, Follicular, Lymphoma, T-Cell, Cutaneous, Lymphoma, Follicular, Grade 1, Lymphoma, Follicular, Grade 3, Lymphoma, Follicular, Grade 2 rs11540652, rs1592119138, rs1592123162, rs1599367044 24362818, 26192916
Unknown
Disease name Disease term dbSNP ID References
Ankylosing spondylitis Ankylosing spondylitis 26974007
B-cell lymphoma B-Cell Lymphomas
Cholangitis Cholangitis, Sclerosing 26974007
Crohn disease Crohn Disease rs2066847, rs2066844, rs886052047, rs5743265, rs111608429, rs104895438 26974007

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