KIF24

Chr 9

kinesin family member 24

Also known as: C9orf48, bA571F15.4

NCBI Gene: 347240ENSG00000186638UniProt: Q5T7B8OMIM: 613747

The protein is a microtubule-dependent motor protein that acts as a negative regulator of ciliogenesis by controlling microtubule polymerization at the mother centriole and mediating recruitment of centriolar proteins. Mutations cause autosomal recessive neurodevelopmental disorder with spastic paraplegia, microcephaly, and seizures, reflecting the critical role of proper cilia regulation in brain development. The gene shows minimal constraint against loss-of-function variants, consistent with recessive inheritance patterns.

OMIMResearchSummary from RefSeq, UniProt
DNmechanismLOEUF 0.89
Clinical Summary— KIF24
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
3 unique Pathogenic / Likely Pathogenic· 87 VUS of 100 total submissions
Explore recent and relevant literature in Research Assistant →

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint
0.89LOEUF
pLI 0.000
Z-score 2.23
OE 0.67 (0.51–0.89)
Tolerant

Typical tolerance to LoF variation

Missense Constraint
0.71Z-score
OE missense 0.93 (0.87–0.99)
675 obs / 729.1 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE0.67 (0.51–0.89)
0≤0.351.4
Missense OE0.93 (0.87–0.99)
0≤0.61.4
Synonymous OE1.00
0≤1.21.6
LoF obs/exp: 35 / 52.4Missense obs/exp: 675 / 729.1Syn Z: 0.01
DN
0.7131th %ile
GOF
0.5758th %ile
LOF
0.3550th %ile

The highest-scoring mechanism for this gene is dominant-negative.

DNprediction above median

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

100 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic3
VUS87
Likely Benign8
Benign2
3
Pathogenic
87
VUS
8
Likely Benign
2
Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
3
0
3
Likely Pathogenic
0
0
0
0
0
VUS
0
84
3
0
87
Likely Benign
0
5
0
3
8
Benign
0
2
0
0
2
Total09163100

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

KIF24 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

3D Protein StructureAlphaFold

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →
Clinical Literature
Open Research Assistant →
Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
Top 5 full-text resultsSearch PubTator3 ↗
Key Publications
Landmark & review papers · by relevance
PubMed
Top 5 results · since 2015Search PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Top 5 resultsSearch Europe PMC ↗

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients