TRAF3IP2 (TRAF3 interacting protein 2)

2003-06-01  

Identity

HGNC
LOCATION
6q21
LOCUSID
ALIAS
ACT1,C6orf2,C6orf4,C6orf5,C6orf6,CANDF8,CIKS,PSORS13
FUSION GENES

Other Information

Locus ID:

NCBI: 10758
MIM: 607043
HGNC: 1343
Ensembl: ENSG00000056972

Variants:

dbSNP: 10758
ClinVar: 10758
TCGA: ENSG00000056972
COSMIC: TRAF3IP2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000056972ENST00000340026O43734
ENSG00000056972ENST00000359831O43734
ENSG00000056972ENST00000368730O43734
ENSG00000056972ENST00000368734O43734
ENSG00000056972ENST00000368735O43734
ENSG00000056972ENST00000368761O43734
ENSG00000056972ENST00000392556O43734
ENSG00000056972ENST00000464903A0A494C0I3
ENSG00000056972ENST00000492671A0A494C0R7
ENSG00000056972ENST00000650649A0A494C0G2
ENSG00000056972ENST00000650859A0A494C172
ENSG00000056972ENST00000651359A0A494C1J9

Expression (GTEx)

0
5
10
15
20
25
30

Pathways

PathwaySourceExternal ID
IL-17 signaling pathwayKEGGko04657
IL-17 signaling pathwayKEGGhsa04657

Protein levels (Protein atlas)

Not detected
Low
Medium
High

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA444059Epidermal Necrolysis, ToxicDiseaseVariantAnnotationassociatedPD
PA445738Stevens-Johnson SyndromeDiseaseVariantAnnotationassociatedPD
PA447230HIVDiseaseClinicalAnnotation, VariantAnnotationassociatedPD
PA450616nevirapineChemicalClinicalAnnotation, VariantAnnotationassociatedPD

References

Pubmed IDYearTitleCitations
209531902010A genome-wide association study identifies new psoriasis susceptibility loci and an interaction between HLA-C and ERAP1.309
209531862010Common variants at TRAF3IP2 are associated with susceptibility to psoriatic arthritis and psoriasis.115
209531882010Genome-wide association study identifies a psoriasis susceptibility locus at TRAF3IP2.112
209531882010Genome-wide association study identifies a psoriasis susceptibility locus at TRAF3IP2.112
198258282009Act1, a U-box E3 ubiquitin ligase for IL-17 signaling.93
241203612013An ACT1 mutation selectively abolishes interleukin-17 responses in humans with chronic mucocutaneous candidiasis.93
179820392007Requirement for both JAK-mediated PI3K signaling and ACT1/TRAF6/TAK1-dependent NF-kappaB activation by IL-17A in enhancing cytokine expression in human airway epithelial cells.79
239950702013Act1 mediates IL-17-induced EAE pathogenesis selectively in NG2+ glial cells.68
180614732008Act1 modulates autoimmunity through its dual functions in CD40L/BAFF and IL-17 signaling.37
245615782014OxLDL induces endothelial dysfunction and death via TRAF3IP2: inhibition by HDL3 and AMPK activators.26

Citation

Dessen P

TRAF3IP2 (TRAF3 interacting protein 2)

Atlas Genet Cytogenet Oncol Haematol. 2003-06-01

Online version: http://atlasgeneticsoncology.org/gene/891/traf3ip2