CLEC16A
Chr 16C-type lectin domain containing 16A
Also known as: Gop-1, KIAA0350
This protein regulates mitophagy (selective mitochondrial autophagy) through the RNF41-PRKN pathway, which is essential for mitochondrial quality control and beta cell function. The gene is highly constrained against loss-of-function variants (LOEUF 0.38), and mutations cause autosomal recessive primary immunodeficiency with diabetes mellitus and neurodegeneration. Clinical features include early-onset diabetes, immunodeficiency, and progressive neurological deterioration affecting multiple systems.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
Mild missense constraint
ClinVar Variant Classifications
235 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 0 | 0 | 18 | 0 | 18 |
Likely Pathogenic | 0 | 0 | 0 | 0 | 0 |
VUS | 0 | 152 | 12 | 0 | 164 |
Likely Benign | 0 | 9 | 2 | 7 | 18 |
Benign | 0 | 1 | 0 | 0 | 1 |
| Total | 0 | 162 | 32 | 7 | 201 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
CLEC16A · 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