CIITA
Chr 16ARclass II major histocompatibility complex transactivator
The CIITA protein functions as the master transcriptional regulator of MHC class II genes, essential for their expression, and exhibits acetyltransferase activity to activate transcription without directly binding DNA. Mutations cause MHC class II deficiency, a severe combined immunodeficiency presenting in early childhood with recurrent infections due to impaired T cell and antigen presentation function. This condition follows autosomal recessive inheritance, and the gene is highly constrained against loss-of-function variants.
Definitive — sufficient evidence for diagnostic panels
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Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
Tolerant to missense variation
This gene has evidence for multiple mechanisms of pathogenicity (dominant-negative and gain-of-function). Both the Badonyi & Marsh prediction and the broader genomic evidence point to dominant-negative as the predominant mechanism. Different variants in this gene may act through different mechanisms — interpret in context of the specific variant.
Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
CIITA · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
CRISPR-Edited HLA Donor Liver Transplant to Reduce Rejection
RECRUITINGCRISPR-Edited HLA Donor Kidney Transplant to Reduce Rejection Risk
RECRUITINGAllogeneic TRAC Locus-inserted CD19-targeting STAR T Cell Therapy in r/r B-NHL
RECRUITINGExternal Resources
Links to major genomics databases and tools