DGCR8
Chr 22DGCR8 microprocessor complex subunit
Also known as: C22orf12, DGCRK6, Gy1, pasha
The protein functions as a component of the microprocessor complex that recognizes and binds primary microRNA transcripts, directing their cleavage by DROSHA to initiate microRNA biogenesis. Mutations cause DiGeorge syndrome and related developmental disorders with cardiac defects, immunodeficiency, and developmental delay, following an autosomal dominant inheritance pattern. The gene is highly constrained against loss-of-function variants (pLI 0.9997, LOEUF 0.211), reflecting its essential role in cellular regulation.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly LoF-intolerant (top ~10% of genes)
Moderately missense-constrained (top ~2.5%)
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
DGCR8 · 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
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools