TRAF3IP2 Gene
TRAF3 Interacting Protein 2: Key Regulator of Inflammatory and Immune Signaling
Gene Information Card
| Symbol | TRAF3IP2 |
|---|---|
| Full Name | TRAF3 Interacting Protein 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 6q21 |
| NCBI Gene ID | 10758 ncbi.nlm.nih.gov/gene/10758 |
| Ensembl ID | ENSG00000112414 |
| UniProt ID | O43734 |
| OMIM ID | 607043 |
| HGNC ID | 13433 |
| Aliases | CIKS, ACT1, C6orf4, MGC104327 |
Description
TRAF3IP2 (TRAF3 Interacting Protein 2) encodes a protein that acts as an adapter molecule in signaling pathways downstream of IL-17 receptors and CD40. It mediates activation of NF-kB and MAP kinases, playing a critical role in inflammatory and immune responses. Mutations in this gene are associated with susceptibility to psoriasis and psoriatic arthritis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Psoriasis | Gain-of-function variant (rs33980500) enhances IL-17 signaling, promoting chronic inflammation | GWAS and functional studies (PMID: 21109225) |
| Psoriatic Arthritis | Same variant increases risk by amplifying NF-kB activation | GWAS (PMID: 21109225) |
| Chronic Mucocutaneous Candidiasis | Loss-of-function mutations impair IL-17-dependent antifungal immunity | Case reports (PMID: 26052045) |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lung | 12.5 | Medium |
| Spleen | 10.8 | Medium |
| Skin | 8.2 | Medium |
| Whole Blood | 3.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 15.2 | High expression |
| HeLa | 9.8 | Moderate expression |
| Jurkat | 6.5 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| rs33980500 (p.Asp10Asn) | SNV | ~10% in European populations | Gain-of-function; increased IL-17 signaling |
| c.166C>T (p.Arg56*) | Nonsense | Rare | Loss-of-function; associated with CMC |
Mutation functional classification
Loss of Function (LOF)
Nonsense mutations (e.g., p.Arg56*) impair IL-17 signaling, leading to immunodeficiency.
Gain of Function (GOF)
Missense variant p.Asp10Asn enhances NF-kB activation, increasing psoriasis risk.
Dominant Negative (DN)
Not reported for TRAF3IP2.
View complete mutation data：
Gene Ontology (GO)
Pathways
• IL-17 Signaling Pathway (Reactome: R-HSA-448146)
• CD40 Signaling Pathway (Reactome: R-HSA-5621575)
• NF-kB Signaling (KEGG: hsa04064)
Protein Summary
The TRAF3IP2 protein (also known as CIKS or ACT1) contains a TRAF-interacting motif and a U-box domain. It functions as an E3 ubiquitin ligase and adapter, linking upstream receptors to downstream kinase cascades. It is essential for IL-17-mediated inflammatory responses and is implicated in autoimmune and inflammatory diseases.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TRAF3IP2 Knockout HEK293 Cell Line | EDJ-KQ7153 | Human | 10758 | Details Get a Quote |
| TRAF3IP2 Knockout A-549 Cell Line | EDJ-KQ32053 | Human | 10758 | Details Get a Quote |
| TRAF3IP2 Knockout HCT 116 Cell Line | EDJ-KQ32054 | Human | 10758 | Details Get a Quote |
| TRAF3IP2 Knockout HeLa Cell Line | EDJ-KQ30676 | Human | 10758 | Details Get a Quote |
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