KIF14
Chr 1ARkinesin family member 14
Also known as: MCPH20, MKS12
KIF14 encodes a microtubule motor protein with ATPase activity that is essential for cytokinesis, chromosome alignment during mitosis, and regulation of cell cycle progression. Mutations cause autosomal recessive primary microcephaly and Meckel syndrome, both reflecting severe developmental abnormalities with early onset. The gene is highly constrained against loss-of-function variants (LOEUF 0.429), consistent with its critical role in fundamental cellular processes including neurogenesis.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
Mild missense constraint
Predictions shown for reference only — model trained on dominant genes, not applicable to AR conditions.
The Badonyi & Marsh prediction model was trained exclusively on dominant disease genes. Predictions are not reliable for genes with autosomal recessive inheritance and are shown at reduced opacity for reference only.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
KIF14 · 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