Gene Gene information from NCBI Gene database.
Entrez ID 10758
Gene name TRAF3 interacting protein 2
Gene symbol TRAF3IP2
Synonyms (NCBI Gene)
ACT1C6orf2C6orf4C6orf5C6orf6CANDF8CIKSPSORS13
Chromosome 6
Chromosome location 6q21
Summary This gene encodes a protein involved in regulating responses to cytokines by members of the Rel/NF-kappaB transcription factor family. These factors play a central role in innate immunity in response to pathogens, inflammatory signals and stress. This gen
miRNA miRNA information provided by mirtarbase database.
300
miRTarBase ID miRNA Experiments Reference
MIRT027633 hsa-miR-98-5p Microarray 19088304
MIRT698080 hsa-miR-6872-3p HITS-CLIP 23313552
MIRT698079 hsa-miR-8064 HITS-CLIP 23313552
MIRT686546 hsa-miR-106a-5p HITS-CLIP 23313552
MIRT686545 hsa-miR-106b-5p HITS-CLIP 23313552
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
61
GO ID Ontology Definition Evidence Reference
GO:0000209 Process Protein polyubiquitination IEA
GO:0001768 Process Establishment of T cell polarity IEA
GO:0001782 Process B cell homeostasis IEA
GO:0001783 Process B cell apoptotic process IEA
GO:0001822 Process Kidney development IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
607043 1343 ENSG00000056972
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
O43734
Protein name E3 ubiquitin ligase TRAF3IP2 (EC 2.3.2.27) (Adapter protein CIKS) (Connection to IKK and SAPK/JNK) (E3 ubiquitin-protein ligase CIKS) (Nuclear factor NF-kappa-B activator 1) (ACT1) (TRAF3-interacting protein 2)
Protein function E3 ubiquitin ligase that catalyzes 'Lys-63'-linked polyubiquitination of target protein, enhancing protein-protein interaction and cell signaling (PubMed:19825828). Transfers ubiquitin from E2 ubiquitin-conjugating enzyme UBE2V1-UBE2N to substra
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF08357 SEFIR 410 552 SEFIR domain Family
Tissue specificity TISSUE SPECIFICITY: Widely expressed.
Sequence
MPPQLQETRMNRSIPVEVDESEPYPSQLLKPIPEYSPEEESEPPAPNIRNMAPNSLSAPT
MLHNSSGDFSQAHSTLKLANHQRPVSRQVTCLRTQVLEDSEDSFCRRHPGLGKAFPSGCS
AVSEPASESVVGALPAEHQFSFMEKRNQWLVSQLSAASPDTGHDSDKSDQSLPNASADSL
GGSQEMVQRPQPHRNRAGLDLPTIDTGYDSQPQDVLGIRQLERPLPLTSVCYPQDLPRPL
RSREFPQFEPQRYPACAQMLPPNLSPHAPWNYHYHCPGSPDHQVPYGHDYPRAAYQQVIQ
PALPGQPLPGASVRGLHPVQKVILNYPSPWDHEERPAQRDCSFPGLPRHQDQPHHQPPNR
AGAPGESLECPAELRPQVPQPPSPAAVPRPPSNPPARGTLKTSNLPEELRKVFITYSMDT
AMEVVKFVNFLLVNGFQTAIDIFEDRIRGIDIIKWMERYLRDKTVMIIVAISPKYKQDVE
GAESQLDEDEHGLHTKYIHRMMQIEFIKQGSMNFRFIPVLFPNAKKEHVPTWLQNTHVYS
WPKNKKNILLRL
LREEEYVAPPRGPLPTLQVVPL
Sequence length 574
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG 
  Cellular senescence
IL-17 signaling pathway
 
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
253
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Candidiasis, familial, 8 Pathogenic; Likely pathogenic rs1796107143, rs2128374357, rs1795637153, rs375800644, rs557983485, rs1304629512, rs1394840448, rs2536181585, rs1321899075, rs2536179287, rs1583225922, rs397518485 RCV001339332
RCV001362447
RCV003086545
RCV002610544
RCV003106690
RCV002889351
RCV002967903
RCV003002461
RCV003745755
RCV003745146
RCV000814831
RCV000074416
Discoid lupus erythematosus Pathogenic rs1583223171 RCV001002673
Melanoma Likely pathogenic rs375800644 RCV005930531
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Adrenocortical carcinoma, hereditary Benign rs33980500 RCV005888652
Cholangiocarcinoma Benign rs33980500 RCV005888656
Clear cell carcinoma of kidney Benign rs566584632 RCV005870967
Colorectal cancer Benign rs33980500 RCV005888654
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Alopecia Associate 29091937
Arthritis Psoriatic Associate 20953186, 20953188, 22298274, 22513239, 25775161
Arthritis Rheumatoid Associate 21749686, 23862741, 25014791, 28107378
Atherosclerosis Associate 24561578
Autoimmune Diseases Associate 24416204, 30528823
Behcet Syndrome Associate 24416204
Breast Neoplasms Associate 25881004
Candidiasis Associate 33359359
Candidiasis Chronic Mucocutaneous Associate 24120361, 33825088
Carcinoid Tumor Associate 24892823