FBXO31
Chr 16ARF-box protein 31
Also known as: FBX14, FBXO14, Fbx31, MRT45, pp2386
FBXO31 encodes a substrate-recognition component of the SCF ubiquitin ligase complex that targets specific proteins for degradation, including cell cycle regulators like cyclin-D1 and cyclin-A, and DNA damage response proteins like MDM2, thereby maintaining genomic integrity and proper cell cycle control. Biallelic mutations cause autosomal recessive intellectual developmental disorder-45 through disruption of these critical cellular processes. The pathogenic mechanism involves loss of proper protein degradation leading to dysregulated cell cycle progression and impaired DNA damage responses.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
Moderately missense-constrained (top ~2.5%)
ClinVar Variant Classifications
200 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 | 1 | 0 | 42 | 0 | 43 |
Likely Pathogenic | 1 | 1 | 10 | 0 | 12 |
VUS | 1 | 75 | 18 | 3 | 97 |
Likely Benign | 0 | 3 | 1 | 20 | 24 |
Benign | 0 | 0 | 2 | 3 | 5 |
| Total | 3 | 79 | 73 | 26 | 181 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
FBXO31 · 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