KIF6

Chr 6

kinesin family member 6

ENSG00000164627UniProt: Q6ZMV9
0
ClinVar variants
0
Pathogenic / LP
0.00
pLI score
0
Active trials
Clinical Summary— KIF6
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
Some data sources returned errors (2)

ncbi: Error: NCBI fetch failed: 429 https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esearch.fcgi

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?LOEUF (Loss-of-function Observed/Expected Upper bound Fraction) is the upper bound of the 90% CI for LoF OE — the preferred gnomAD v4 metric. Lower = more intolerant to LoF. LOEUF < 0.35 = highly constrained.
1.10LOEUF
pLI 0.000
Z-score 0.93
OE 0.86 (0.68–1.10)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?Missense Z-score: standard deviations fewer missense variants observed vs. expected. Z > 3.09 (p < 0.001) = gene does not tolerate missense variation. OE missense < 0.6 is also considered constrained.
0.43Z-score
OE missense 0.94 (0.87–1.02)
408 obs / 433.4 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?Shaded band = 90% confidence interval. Vertical tick = point estimate. Grey threshold line = gnomAD constraint cutoff for that variant class.
LoF OE?Ratio of observed to expected LoF variants. Upper CI bound (LOEUF) ≤ 0.35 = strong LoF constraint signal.0.86 (0.68–1.10)
0≤0.351.4
Missense OE?Ratio of observed to expected missense variants. OE ≤ 0.6 = fewer missense variants than expected by chance.0.94 (0.87–1.02)
0≤0.61.4
Synonymous OE?Control metric — synonymous variants are largely neutral and expected near OE = 1.0. Significant deviation may indicate annotation issues.0.88
0≤1.21.6
LoF obs/exp: 45 / 52.2Missense obs/exp: 408 / 433.4Syn Z: 1.21

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

KIF6 · protein map & ClinVar variants

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

OMIM — Genotype-Phenotype

OMIM

No OMIM entries found.

Clinical Literature
Landmark / reviewRecent case evidence
Key Publications
Landmark & review papers · by relevance
PubMed
Distinct roles of Kif6 and Kif9 in mammalian ciliary trafficking and motility.
Fang C et al.·J Cell Biol
2024
The KIF6 collapse.
Topol EJ et al.·J Am Coll Cardiol
2010
KIF6 Trp719Arg Genetic Variant Increases Risk for Thoracic Aortic Dissection.
Velasco JJ et al.·Genes (Basel)
2023
Association between KIF6 rs20455 polymorphism and the risk of coronary heart disease (CHD): a pooled analysis of 50 individual studies including 40,059 cases and 64,032 controls.
Li Y et al.·Lipids Health Dis
2018Meta-analysis
Kif6 regulates cilia motility and polarity in brain ependymal cells.
Takagishi M et al.·bioRxiv
2023
A common KIF6 polymorphism increases vulnerability to low-density lipoprotein cholesterol: two meta-analyses and a meta-regression analysis.
Ference BA et al.·PLoS One
2011Meta-analysis
Motor protein Kif6 regulates cilia motility and polarity in brain ependymal cells.
Takagishi M et al.·Dis Model Mech
2024
The Trp719Arg polymorphism of the KIF6 gene and coronary heart disease risk: systematic review and meta-analysis.
Ruiz-Ramos D et al.·Hereditas
2015Meta-analysis
Meta-analyses of KIF6 Trp719Arg in coronary heart disease and statin therapeutic effect.
Peng P et al.·PLoS One
2012Meta-analysis
Kinesin family member 6 (kif6) is necessary for spine development in zebrafish.
Buchan JG et al.·Dev Dyn
2014Functional
Top 10 resultsSearch PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Top 5 resultsSearch Europe PMC ↗

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

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External Resources

Links to major genomics databases and tools