KIF3B
Chr 20ADkinesin family member 3B
Also known as: FLA8, HH0048, KLP-11, OTSC12, RP89
The KIF3B protein is a microtubule-based molecular motor that transports intracellular cargos such as vesicles and organelles, and plays a role in cilia formation and photoreceptor integrity. Mutations cause retinitis pigmentosa 89, inherited in an autosomal dominant pattern. This gene is highly constrained against loss-of-function variants (LOEUF 0.45), suggesting that such mutations are likely pathogenic.
Primary Disease Associations & Inheritance
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
Moderately missense-constrained (top ~2.5%)
This gene has evidence for multiple mechanisms of pathogenicity (dominant-negative and gain-of-function). Both the Badonyi & Marsh prediction and the broader genomic evidence point to dominant-negative as the predominant mechanism. Different variants in this gene may act through different mechanisms — interpret in context of the specific variant.
Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
111 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 | 2 | 11 | 0 | 13 |
Likely Pathogenic | 0 | 0 | 4 | 0 | 4 |
VUS | 0 | 69 | 7 | 0 | 76 |
Likely Benign | 1 | 1 | 1 | 2 | 5 |
Benign | 0 | 0 | 1 | 1 | 2 |
| Total | 1 | 72 | 24 | 3 | 100 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
KIF3B · 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