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 (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
28
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
Candidiasis, familial, 8 Pathogenic; Likely pathogenic rs1796107143, rs2128374357, rs1795637153, rs375800644, rs557983485, rs1304629512, rs1394840448, rs2536181585, rs1321899075, rs2536179287, rs1583225922, rs397518485 RCV001339332
RCV001362447
RCV003086545
RCV002610544
RCV003106690
View all (7 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Discoid lupus erythematosus Pathogenic rs1583223171 RCV001002673
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Melanoma Likely pathogenic rs375800644 RCV005930531
★★★★☆
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
Adrenocortical carcinoma, hereditary Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ANDROGENETIC ALOPECIA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ARTHRITIS, PSORIATIC CTD, Disgenet
CTD, Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ATOPIC ECZEMA GWAS catalog
★★☆☆☆
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
Anaplastic thyroid carcinoma Anaplastic thyroid cancer BEFREE 22513979
★☆☆☆☆
Found in Text Mining only
Aortic Aneurysm Thoracic Thoracic aortic aneurysm Pubtator 22753406 Associate
★☆☆☆☆
Found in Text Mining only
Aortic Dissection Aortic dissection Pubtator 21288906 Associate
★☆☆☆☆
Found in Text Mining only
Arteriosclerosis Arteriosclerosis BEFREE 23085260
★☆☆☆☆
Found in Text Mining only
Arthritis Psoriatic Psoriatic arthritis Pubtator 20953186, 20953188, 22298274, 22513239, 25775161 Associate
★☆☆☆☆
Found in Text Mining only
Arthritis Rheumatoid Rheumatoid arthritis Pubtator 21749686, 23862741, 25014791, 28107378 Associate
★☆☆☆☆
Found in Text Mining only
Arthritis, Psoriatic Psoriatic Arthritis BEFREE 20953186, 20953188, 22513239, 22532288, 23116200, 23836313, 25775161
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Arthritis, Psoriatic Psoriatic Arthritis GWASDB_DG 20953186
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Arthritis, Psoriatic Psoriatic Arthritis GWASCAT_DG 20953186, 26626624, 30552173
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Arthritis, Psoriatic Psoriatic Arthritis CTD_human_DG 20953186, 20953188
★★☆☆☆
Found in Text Mining + Unknown/Other Associations