KIAA0586
Chr 14ARKIAA0586
Also known as: JBTS23, SRTD14, Talpid3
This gene encodes a centrosomal protein required for ciliogenesis and sonic hedgehog signaling, including centrosomal recruitment of RAB8A and targeting of centriole satellite proteins to centrosomes. Mutations cause Joubert syndrome 23 and short-rib thoracic dysplasia 14 with polydactyly through autosomal recessive inheritance. These are ciliopathies affecting the central nervous system, skeleton, and often multiple organ systems.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
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
KIAA0586 · 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