Candidiasis, familial, 6: genes and variants
Candidiasis, familial, 6 is linked to 2 analyzed proteins (TRAF3IP2 and IL17F). 1 DNA variants are known to cause it; 99 more are uncertain, and 0 of those already look disease-causing on computable evidence.
Last updated 2026-09-30. Research information, not medical advice.
Also known as: Candidiasis, familial, 8
Genes linked to Candidiasis, familial, 6
TRAF3IP2: E3 ubiquitin ligase TRAF3IP2
It connects IL-17 receptors to downstream NF-kappaB and MAPK signaling and is therefore central to barrier-tissue inflammatory responses. Pathogenic loss-of-function variants can cause chronic mucocutaneous candidiasis, while common variants influence psoriasis and related inflammatory disease.
1 disease-causing and 17 uncertain variants in TRAF3IP2 are linked to Candidiasis, familial, 6.
IL17F: Interleukin-17F
It promotes epithelial and stromal antimicrobial responses, chemokine production, and neutrophil recruitment, often together with IL-17A. Dominant-negative or loss-of-function variants can predispose to chronic mucocutaneous candidiasis.
0 disease-causing and 82 uncertain variants in IL17F are linked to Candidiasis, familial, 6.
Known disease-causing variants in Candidiasis, familial, 6
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| TRAF3IP2 T536I | 536 | SEFIR | Disease-causing |
Frequently asked questions
Which genes are linked to Candidiasis, familial, 6?
In CATVariant, Candidiasis, familial, 6 is linked to 2 analyzed proteins: TRAF3IP2 (E3 ubiquitin ligase TRAF3IP2) and IL17F (Interleukin-17F).
How many genetic variants are linked to Candidiasis, familial, 6?
106 variants: 1 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 99 are of uncertain significance or have conflicting reports.
Which uncertain variants in Candidiasis, familial, 6 look disease-causing?
None of the uncertain variants currently reaches the likely-pathogenic range on computable evidence alone.
About this data
Variant–disease links come from ClinVar, Open Targets and UniProt, pooled from the latest public CATVariant analysis of each human protein. Evidence scores use the ACMG/AMP Bayesian points scale with computable criteria only (position among known disease variants, rarity in gnomAD, calibrated predictors, deep mutational scanning); there is no family or patient data, so they prioritise variants for expert review and never classify them.
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