TRAF3IP2 Chromosome 6
TRAF3 interacting protein 2
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What This Gene Does
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 gene product interacts with TRAF proteins (tumor necrosis factor receptor-associated factors) and either I-kappaB kinase or MAP kinase to activate either NF-kappaB or Jun kinase. Several alternative transcripts encoding different isoforms have been identified. Another transcript, which does not encode a protein and is transcribed in the opposite orientation, has been identified. Overexpression of this transcript has been shown to reduce expression of at least one of the protein encoding transcripts, suggesting it has a regulatory role in the expression of this gene. [provided by RefSeq, Aug 2009]
Associated Conditions (8)
Candidiasis
familial
8
Psoriasis 13
susceptibility to
TRAF3IP2-related disorder
Melanoma
Discoid lupus erythematosus
Key Variants
RS144405088
Conflicting classifications of pathogenicity
Candidiasis, familial, 8
Health Risk
RS369345925
Conflicting classifications of pathogenicity
Candidiasis, familial, 8
Health Risk
RS73764462
Conflicting classifications of pathogenicity
Candidiasis, familial, 8
Health Risk
RS1321899075
Likely pathogenic
Candidiasis, familial, 8
Health Risk
RS1394840448
Likely pathogenic
Candidiasis, familial, 8
Health Risk
RS375800644
Likely pathogenic
Candidiasis, familial, 8
Health Risk
RS1304629512
Pathogenic
Candidiasis, familial, 8
Health Risk
RS1583223171
Pathogenic
Discoid lupus erythematosus, Discoid lupus erythematosus
Health Risk
RS1583225922
Pathogenic
Candidiasis, familial, 8
Health Risk
RS1795637153
Pathogenic
Candidiasis, familial, 8
Health Risk
RS1796107143
Pathogenic
Candidiasis, familial, 8
Health Risk
RS2128374357
Pathogenic
Candidiasis, familial, 8
Health Risk
All Variants (16)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS144405088 | Health Risk | Conflicting classifications of pathogenicity | Candidiasis, familial, 8 |
| RS369345925 | Health Risk | Conflicting classifications of pathogenicity | Candidiasis, familial, 8 |
| RS73764462 | Health Risk | Conflicting classifications of pathogenicity | Candidiasis, familial, 8 |
| RS1321899075 | Health Risk | Likely pathogenic | Candidiasis, familial, 8 |
| RS1394840448 | Health Risk | Likely pathogenic | Candidiasis, familial, 8 |
| RS375800644 | Health Risk | Likely pathogenic | Candidiasis, familial, 8 |
| RS1304629512 | Health Risk | Pathogenic | Candidiasis, familial, 8 |
| RS1583223171 | Health Risk | Pathogenic | Discoid lupus erythematosus, Discoid lupus erythematosus |
| RS1583225922 | Health Risk | Pathogenic | Candidiasis, familial, 8 |
| RS1795637153 | Health Risk | Pathogenic | Candidiasis, familial, 8 |
| RS1796107143 | Health Risk | Pathogenic | Candidiasis, familial, 8 |
| RS2128374357 | Health Risk | Pathogenic | Candidiasis, familial, 8 |
| RS2536179287 | Health Risk | Pathogenic | Candidiasis, familial, 8 |
| RS2536181585 | Health Risk | Pathogenic | Candidiasis, familial, 8 |
| RS397518485 | Health Risk | Pathogenic | Candidiasis, familial, 8 |
| RS557983485 | Health Risk | Pathogenic | Candidiasis, familial, 8 |