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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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KIF6
kinesin family member 6
Chromosome 6 · 6p21.2
NCBI Gene: 221458Ensembl: ENSG00000164627.18HGNC: HGNC:21202UniProt: F6VGH2
62PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingkinesin complexmicrotubulemicrotubule motor activityalcohol drinkinghypospadiasfacial morphologyHallux valgus
✦AI Summary

KIF6 is a kinesin-9 family motor protein that functions primarily in ciliary cargo transport and motility. KIF6 contains ATP hydrolysis activity and displays authentic microtubule-based motor activity in vitro, with its ciliary localization strictly requiring ATPase function 1. The protein forms puncta that move bidirectionally along ciliary axonemes, distinct from the regional oscillation pattern of its paralog KIF9 1. KIF6 is essential for coordinated ciliary beat in mammalian ependymal tissues and cerebrospinal fluid flow; Kif6-deficient mice develop severe hydrocephalus with high mortality 1. In spermatogenesis, Kif6 deficiency causes male infertility through oligozoospermia and defective sperm forward motility 1. Clinically, the KIF6 Trp719Arg polymorphism has been extensively studied in coronary heart disease (CHD) susceptibility. Meta-analyses show conflicting results: prospective studies in Caucasians demonstrate that the 719Arg allele increases CHD risk 2, while the largest pooled analysis of 50 studies found no significant association 3. The 719Arg allele notably increases vulnerability to LDL cholesterol, enhancing statin responsiveness 4. In statin-treated patients, ArgTrp and ArgArg carriers show increased major adverse cardiovascular events compared to TrpTrp carriers 5, despite significant cardiovascular benefit from statin therapy across all genotypes.

Sources cited
1
KIF6 displays microtubule-based motor activity, forms bidirectional puncta along axonemes, and is essential for ciliary beat and cerebrospinal fluid flow; its deficiency causes hydrocephalus and male infertility
PMID: 39158699
2
KIF6 719Arg allele increases CHD risk in prospective Caucasian studies and is associated with enhanced statin therapeutic benefit
PMID: 23236363
3
Largest meta-analysis of 50 studies found no significant association between KIF6 rs20455 polymorphism and CHD risk across multiple genetic models
PMID: 29304815
4
KIF6 719Arg allele increases vulnerability to LDL cholesterol and enhances clinical benefit of LDL-lowering therapies
PMID: 22216121
5
In statin-treated patients, ArgTrp and ArgArg genotypes are associated with increased major adverse cardiovascular events compared to TrpTrp
PMID: 29938614
Disease Associationsⓘ20
alcohol drinkingOpen Targets
0.30Weak
hypospadiasOpen Targets
0.30Weak
facial morphologyOpen Targets
0.29Weak
Hallux valgusOpen Targets
0.28Weak
Hodgkins lymphomaOpen Targets
0.26Weak
placenta praeviaOpen Targets
0.25Weak
type 2 diabetes mellitusOpen Targets
0.21Weak
diabetic neuropathyOpen Targets
0.20Weak
ShockOpen Targets
0.20Weak
Abnormal nasolacrimal system morphologyOpen Targets
0.19Weak
migraine disorderOpen Targets
0.17Weak
coronary artery diseaseOpen Targets
0.09Suggestive
cardiovascular diseaseOpen Targets
0.06Suggestive
adolescent idiopathic scoliosisOpen Targets
0.06Suggestive
leukoencephalopathy with vanishing white matter 5Open Targets
0.06Suggestive
hydrocephalus, congenital communicating, 1Open Targets
0.05Suggestive
Testicular regression syndromeOpen Targets
0.05Suggestive
megalencephaly, autosomal dominantOpen Targets
0.05Suggestive
azoospermiaOpen Targets
0.05Suggestive
Craniosynostosis - Dandy-Walker malformation - hydrocephalusOpen Targets
0.05Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
KIF3CShared pathway100%DYNLT2Shared pathway100%KIF21BShared pathway100%KLC4Shared pathway100%KIF19Shared pathway100%DYNLT5Shared pathway100%
Tissue Expression6 tissues
Brain
100%
Bone Marrow
23%
Lung
16%
Heart
16%
Liver
13%
Ovary
8%
Gene Interaction Network
Click a node to explore
KIF6KIF3CDYNLT2KIF21BKLC4KIF19DYNLT5
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q6ZMV9
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.13LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.90 [0.72–1.13]
RankingsWhere KIF6 stands among ~20K protein-coding genes
  • #7,473of 20,598
    Most Researched62
  • #11,700of 17,882
    Most Constrained (LOEUF)1.13
Genes detectedKIF6
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Distinct roles of Kif6 and Kif9 in mammalian ciliary trafficking and motility.
PMID: 39158699
J Cell Biol · 2024
1.00
2
The Trp719Arg polymorphism of the KIF6 gene and coronary heart disease risk: systematic review and meta-analysis.
PMID: 28096762
Hereditas · 2015
0.90
3
Are
PMID: 32867607
Eur J Sport Sci · 2021
0.80
4
Meta-analyses of KIF6 Trp719Arg in coronary heart disease and statin therapeutic effect.
PMID: 23236363
PLoS One · 2012
0.70
5
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.
PMID: 29304815
Lipids Health Dis · 2018
0.60