KIF26B
Chr 1kinesin family member 26B
KIF26B encodes an intracellular motor protein that transports organelles along microtubules and is essential for embryonic kidney development by maintaining mesenchymal cell adhesion adjacent to ureteric buds. Mutations cause congenital anomalies of the kidney and urinary tract (CAKUT) with autosomal recessive inheritance. The gene is highly constrained against loss-of-function variants, indicating that biallelic mutations typically result in severe developmental kidney abnormalities.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly LoF-intolerant (top ~10% of genes)
Mild missense constraint
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
422 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 | 35 | 0 | 35 |
Likely Pathogenic | 0 | 0 | 1 | 0 | 1 |
VUS | 0 | 276 | 5 | 0 | 281 |
Likely Benign | 0 | 22 | 1 | 30 | 53 |
Benign | 0 | 10 | 2 | 13 | 25 |
| Total | 0 | 308 | 44 | 43 | 395 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
KIF26B · 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