COMMD3
Chr 10COMM domain containing 3
Also known as: BUP, C10orf8
COMMD3 encodes a scaffold protein in the commander complex that is essential for endosomal recycling of transmembrane cargos and modulates sodium transport in epithelial cells by regulating amiloride-sensitive sodium channel expression. The gene shows low constraint to loss-of-function variation (pLI 0.00003, LOEUF 1.14), and no established human disease associations have been reported to date. Additional research is needed to determine if COMMD3 variants cause neurological or other clinical phenotypes.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Tolerant to missense variation
ClinVar Variant Classifications
23 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 | 8 | 0 | 8 |
Likely Pathogenic | 0 | 0 | 1 | 0 | 1 |
VUS | 0 | 8 | 3 | 0 | 11 |
Likely Benign | 0 | 1 | 0 | 0 | 1 |
Benign | 0 | 0 | 1 | 0 | 1 |
| Total | 0 | 9 | 13 | 0 | 22 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
COMMD3 · 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
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools