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GeneE
10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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KIF3A
kinesin family member 3A
Chromosome 5 · 5q31.1
NCBI Gene: 11127Ensembl: ENSG00000131437.16HGNC: HGNC:6319UniProt: B4DHG8
111PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Highly Constrained
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
centrosomeprotein localization to cell junctionprotein bindingextracellular exosomeneurodegenerative diseaseasthmaatopic eczemaallergic disease
✦AI Summary

KIF3A is a kinesin motor protein essential for primary cilia formation and function. It operates as a microtubule-based anterograde translocator, exhibiting plus end-directed microtubule sliding activity and playing critical roles in centriole cohesion, subdistal appendage organization, and ciliary basal feet formation 1. Beyond structural functions, KIF3A participates in multiple signaling pathways including Sonic Hedgehog signaling, where alternative splicing-mediated KIF3A exon skipping promotes SHH-subgroup medulloblastoma progression through Gli2 activation 2. KIF3A dysfunction associates with multiple diseases. Reduced KIF3A expression, driven by disease-associated SNPs that increase DNA methylation, impairs skin barrier homeostasis and promotes atopic dermatitis development through disrupted junctional proteins and increased transepidermal water loss 3. Kif3a-deficient mice develop transcriptomic profiles closely resembling pediatric atopic dermatitis 4. Additionally, KIF3A polymorphisms show significant associations with childhood asthma and aspirin-intolerant asthma, potentially through impaired mucus and allergen clearance 5 6. In nasopharyngeal carcinoma, KIF3A knockdown reduces tumor stem cell proliferation and invasion by suppressing HIF-1 and NF-κB signaling 7. Cardiac fibroblasts require primary cilia-dependent KIF3A function for transforming growth factor β signaling and fibrogenesis during myocardial injury 1.

Sources cited
1
KIF3A is a component of primary cilia identified in cardiac fibroblasts; primary cilia are required for TGF-β-SMAD3 signaling and fibrogenesis during myocardial injury
PMID: 30818997
2
KIF3A disease-associated SNPs increase methylation and reduce expression, causing disrupted skin barrier function and increased transepidermal water loss in atopic dermatitis
PMID: 32796837
3
Kif3a skin depletion produces transcriptomic profiles closely resembling pediatric atopic dermatitis, particularly non-lesional skin
PMID: 34964466
4
EFTUD2-mediated KIF3A exon 10-11 skipping promotes SHH-subgroup medulloblastoma progression through Gli2 activation and enhanced cell proliferation
PMID: 40275081
5
KIF3A knockdown reduces nasopharyngeal carcinoma stem cell proliferation, migration, and invasion through HIF-1 and NF-κB inhibition
PMID: 37715417
6
KIF3A polymorphisms, particularly rs7737031, are associated with childhood asthma with an 18.5% population attributable risk, possibly through impaired airway mucus clearance
PMID: 21912604
7
KIF3A gene polymorphisms are significantly associated with aspirin-intolerant asthma and aspirin-induced decline in lung function
PMID: 20922562
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.54Moderate
asthmaOpen Targets
0.32Weak
atopic eczemaOpen Targets
0.32Weak
allergic diseaseOpen Targets
0.31Weak
alcohol drinkingOpen Targets
0.27Weak
Epiretinal membraneOpen Targets
0.25Weak
polycythemiaOpen Targets
0.23Weak
retinopathyOpen Targets
0.22Weak
childhood onset asthmaOpen Targets
0.21Weak
Abnormality of refractionOpen Targets
0.21Weak
Nasal Cavity PolypOpen Targets
0.15Weak
actinic keratosisOpen Targets
0.14Weak
Eczematoid dermatitisOpen Targets
0.14Weak
neoplasmOpen Targets
0.10Suggestive
non-small cell lung carcinomaOpen Targets
0.09Suggestive
urinary bladder carcinomaOpen Targets
0.09Suggestive
triple-negative breast cancerOpen Targets
0.07Suggestive
breast cancerOpen Targets
0.07Suggestive
Abnormal thrombosisOpen Targets
0.07Suggestive
respiratory system diseaseOpen Targets
0.07Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
KIF5CProtein interaction100%SUFUProtein interaction100%KIF3CProtein interaction99%KLC1Protein interaction99%KIF15Protein interaction98%IFT57Protein interaction92%
Tissue Expression6 tissues
Brain
100%
Heart
18%
Ovary
16%
Bone Marrow
12%
Lung
7%
Liver
4%
Gene Interaction Network
Click a node to explore
KIF3AKIF5CSUFUKIF3CKLC1KIF15IFT57
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q05CT3
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.30Highly Constrained
pLIⓘ
1.00Intolerant
Observed/Expected LoF0.18 [0.11–0.30]
RankingsWhere KIF3A stands among ~20K protein-coding genes
  • #4,276of 20,598
    Most Researched111 · top quartile
  • #1,131of 17,882
    Most Constrained (LOEUF)0.30 · top 10%
Genes detectedKIF3A
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Fibroblast Primary Cilia Are Required for Cardiac Fibrosis.
PMID: 30818997
Circulation · 2019
1.00
2
Disease-associated KIF3A variants alter gene methylation and expression impacting skin barrier and atopic dermatitis risk.
PMID: 32796837
Nat Commun · 2020
0.90
3
Skin depletion of Kif3a resembles the pediatric atopic dermatitis transcriptome profile.
PMID: 34964466
Hum Mol Genet · 2022
0.80
4
Alternative spliceosomal protein Eftud2 mediated Kif3a exon skipping promotes SHH-subgroup medulloblastoma progression.
PMID: 40275081
Cell Death Differ · 2025
0.70
5
Inhibitory mechanism of KIF3A gene on nasopharyngeal carcinoma stem cells.
PMID: 37715417
Cell Mol Biol (Noisy-le-grand) · 2023
0.60