Gene Gene information from NCBI Gene database.
Entrez ID 7128
Gene name TNF alpha induced protein 3
Gene symbol TNFAIP3
Synonyms (NCBI Gene)
A20AIFBL1AISBLOTUD7CTNFA1P2
Chromosome 6
Chromosome location 6q23.3
Summary 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
SNPs SNP information provided by dbSNP.
9
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
miRNA miRNA information provided by mirtarbase database.
469
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-PCRWestern blot 22550173
Transcription factors Transcription factors information provided by TRRUST V2 database.
6
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
100
GO ID Ontology Definition Evidence Reference
GO:0001922 Process B-1 B cell homeostasis IEA
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:0002237 Process Response to molecule of bacterial origin IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
191163 11896 ENSG00000118503
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  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 Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
40
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Autoinflammatory syndrome, familial, Behcet-like Likely pathogenic; Pathogenic rs1461832435, rs2114504458, rs2114496422, rs2114490906 RCV001329556
RCV001814603
RCV002244082
RCV003336786
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Autoinflammatory syndrome, familial, Behcet-like 1 Likely pathogenic; Pathogenic rs2114501370, rs1423560438, rs2114499761, rs2114500822, rs752539001, rs370705859, rs2482743566, rs864321625, rs864321682, rs864321626, rs864321684, rs864321685, rs2482750192, rs2482727350, rs1776278098 RCV003147678
RCV003229628
RCV002508822
RCV002508823
RCV002283900
View all (10 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
A20 haploinsufficiency Benign; Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Acute myeloid leukemia Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ANKYLOSING SPONDYLITIS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ANKYLOSING SPONDYLITIS AND OTHER INFLAMMATORY SPONDYLOPATHIES Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acute pancreatitis Pancreatitis BEFREE 25050625
★☆☆☆☆
Found in Text Mining only
Adult Diffuse Large B-Cell Lymphoma B-cell Lymphoma BEFREE 23327292
★☆☆☆☆
Found in Text Mining only
Adult Hodgkin Lymphoma Hodgkin Lymphoma BEFREE 19380639, 28189285
★☆☆☆☆
Found in Text Mining only
Agammaglobulinemia Agammaglobulinemia Pubtator 33679772 Associate
★☆☆☆☆
Found in Text Mining only
Allergic rhinitis (disorder) Allergic rhinitis BEFREE 26996111
★☆☆☆☆
Found in Text Mining only
Anemia Anemia Pubtator 37535999 Associate
★☆☆☆☆
Found in Text Mining only
Anemia Pernicious Pernicious anemia Pubtator 33966343 Associate
★☆☆☆☆
Found in Text Mining only
Ankylosing spondylitis Ankylosing Spondylitis BEFREE 21339218, 29940800, 31308453
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Ankylosing spondylitis Ankylosing Spondylitis GWASCAT_DG 26974007
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Anxiety Anxiety Disorder BEFREE 29486471
★☆☆☆☆
Found in Text Mining only