REL
Chr 2ARREL proto-oncogene, NF-kB subunit
Also known as: C-Rel, HIVEN86A, IMD92
The REL protein functions as a component of NF-kappa-B transcription factor complexes that regulate genes involved in immunity, inflammation, differentiation, and apoptosis, with particular importance for B lymphocyte survival and proliferation. Loss-of-function mutations cause autosomal recessive immunodeficiency 92, likely through impaired NF-kappa-B signaling critical for immune system function. The inheritance pattern is autosomal recessive with pathogenicity resulting from loss of normal protein function.
Primary Disease Associations & Inheritance
Moderate evidence — consider for supplementary testing
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly LoF-intolerant (top ~10% of genes)
Mild missense constraint
The highest-scoring mechanism for this gene is loss-of-function (haploinsufficiency).
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312. Mechanism ranking also informed by gnomAD constraint, ClinVar, and ClinGen data.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
REL · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
External Resources
Links to major genomics databases and tools