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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
KIF5C
kinesin family member 5C
Chromosome 2 Β· 2q23.1-q23.2
NCBI Gene: 3800Ensembl: ENSG00000168280.18HGNC: HGNC:6325UniProt: O60282
72PubMed Papers
21Diseases
0Drugs
10Pathogenic Variants
FUNCTIONAL ROLE
Highly ConstrainedTransporter
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
protein bindingcytoplasmkinesin complexmicrotubule bindingGenetic central nervous system malformationneurodegenerative diseasecomplex cortical dysplasia with other brain malformationstype 2 diabetes mellitus
✦AI Summary

KIF5C is a microtubule-associated motor protein essential for neuronal development and function. As a plus-end-directed kinesin motor, it hydrolyzes ATP to generate force for anterograde axonal and dendritic transport of organelles, cargo proteins, and mRNAs 1. KIF5C is particularly critical for transporting the scaffolding protein MAPK8IP3/JIP3, which is required for axon elongation. The protein is highly expressed during early cortical development in both mice and human forebrain 2. KIF5C mutations cause neurodevelopmental disorders through multiple pathogenic mechanisms. Deletions affecting the ATP-binding domain impair ATPase activity and reduce peroxisome transport capacity 3. Loss-of-function leads to abnormal cortical neuronal migration, reduced dendritic branching, and impaired dendritic spine growth 2. KIF5C deficiency also disrupts synaptic transmission by affecting the balance between excitatory and inhibitory neurotransmission 1. Pathogenic KIF5C variants cause infantile-onset epilepsy, intellectual disability, brain atrophy, and cortical malformations, with early clinical presentation correlating with severity 3. The gene has also been identified in congenital cranial dysinnervation disorders 4. Additionally, KIF5C supports neuronal differentiation of mesenchymal stem cells, regulated by the miR-543 pathway 5. These findings establish KIF5C as a critical regulator of cortical development and neuronal function, with therapeutic implications for neurodevelopmental disease management.

Sources cited
1
KIF5C mutations cause infantile-onset epilepsy, intellectual disability, and impaired cargo transport through reduced ATP hydrolysis activity
PMID: 38525108
2
KIF5C is highly expressed during early cortical development and is required for normal neuronal migration, dendritic branching, and spine morphology
PMID: 34966180
3
KIF5C mutations disrupt synaptic transmission and excitatory synapse function, contributing to intellectual disability
PMID: 24812067
4
KIF5C variants are associated with ocular congenital cranial dysinnervation disorders
PMID: 39033378
5
KIF5C facilitates neuronal differentiation of mesenchymal stem cells, regulated negatively by miR-543
PMID: 39444227
Disease Associationsβ“˜21
Genetic central nervous system malformationOpen Targets
0.77Strong
neurodegenerative diseaseOpen Targets
0.43Moderate
complex cortical dysplasia with other brain malformationsOpen Targets
0.37Weak
type 2 diabetes mellitusOpen Targets
0.29Weak
disturbances of sensation of smell and tasteOpen Targets
0.27Weak
cerebral cortical dysplasiaOpen Targets
0.27Weak
placenta praeviaOpen Targets
0.25Weak
hypertensionOpen Targets
0.25Weak
complicationOpen Targets
0.25Weak
genetic disorderOpen Targets
0.18Weak
Duane retraction syndromeOpen Targets
0.15Weak
Duane anomalyOpen Targets
0.15Weak
Intellectual disabilityOpen Targets
0.12Weak
developmental disorder of mental healthOpen Targets
0.12Weak
jaw-winking syndromeOpen Targets
0.12Weak
schizophreniaOpen Targets
0.07Suggestive
esophageal cancerOpen Targets
0.06Suggestive
immunodeficiency 88Open Targets
0.06Suggestive
amyotrophic lateral sclerosisOpen Targets
0.05Suggestive
chronic myeloproliferative disorderOpen Targets
0.05Suggestive
Cortical dysplasia, complex, with other brain malformations 2UniProt
Pathogenic Variants10
NM_004522.3(KIF5C):c.278C>T (p.Thr93Ile)Pathogenic
not provided|Complex cortical dysplasia with other brain malformations 2
β˜…β˜…β˜†β˜†2026β†’ Residue 93
NM_004522.3(KIF5C):c.709G>A (p.Glu237Lys)Pathogenic
Complex cortical dysplasia with other brain malformations 2|not provided
β˜…β˜…β˜†β˜†2024β†’ Residue 237
NM_004522.3(KIF5C):c.265TCA[1] (p.Ser90del)Pathogenic
not provided|Complex cortical dysplasia with other brain malformations 2
β˜…β˜…β˜†β˜†2024β†’ Residue 90
NM_004522.3(KIF5C):c.404A>G (p.Tyr135Cys)Likely pathogenic
Cortical dysplasia|Complex cortical dysplasia with other brain malformations 2
β˜…β˜…β˜†β˜†2024β†’ Residue 135
NM_004522.3(KIF5C):c.275A>G (p.Lys92Arg)Likely pathogenic
not provided|Complex cortical dysplasia with other brain malformations 2
β˜…β˜…β˜†β˜†2024β†’ Residue 92
NM_004522.3(KIF5C):c.710A>T (p.Glu237Val)Likely pathogenic
Complex cortical dysplasia with other brain malformations 2
β˜…β˜†β˜†β˜†2024β†’ Residue 237
NM_004522.3(KIF5C):c.1666A>T (p.Lys556Ter)Likely pathogenic
Complex cortical dysplasia with other brain malformations 2
β˜…β˜†β˜†β˜†2024β†’ Residue 556
NM_004522.3(KIF5C):c.2385dup (p.Gln796fs)Likely pathogenic
Complex cortical dysplasia with other brain malformations 2
β˜…β˜†β˜†β˜†2024β†’ Residue 796
NM_004522.3(KIF5C):c.710A>G (p.Glu237Gly)Likely pathogenic
Complex cortical dysplasia with other brain malformations 2
β˜…β˜†β˜†β˜†2023β†’ Residue 237
NM_004522.3(KIF5C):c.265T>C (p.Ser89Pro)Pathogenic
Complex cortical dysplasia with other brain malformations 2
β˜…β˜†β˜†β˜†β†’ Residue 89
View on ClinVar β†—
Related Genes
NEFLProtein interaction100%KIF3AProtein interaction100%KIF1AProtein interaction100%TUBA1AProtein interaction100%NEFHProtein interaction99%RANBP2Protein interaction99%
Tissue Expression6 tissues
Brain
100%
Bone Marrow
5%
Ovary
2%
Heart
1%
Liver
0%
Lung
0%
Gene Interaction Network
Click a node to explore
KIF5CNEFLKIF3AKIF1ATUBA1ANEFHRANBP2
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt O60282
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
0.25Highly Constrained
pLIβ“˜
1.00Intolerant
Observed/Expected LoF0.17 [0.11–0.25]
RankingsWhere KIF5C stands among ~20K protein-coding genes
  • #6,555of 20,598
    Most Researched72
  • #2,857of 5,498
    Most Pathogenic Variants10
  • #764of 17,882
    Most Constrained (LOEUF)0.25 Β· top 5%
Genes detectedKIF5C
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
A novel in-frame deletion in KIF5C gene causes infantile onset epilepsy and psychomotor retardation.
PMID: 38525108
MedComm (2020) Β· 2024
1.00
2
KIF5C deficiency causes abnormal cortical neuronal migration, dendritic branching, and spine morphology in mice.
PMID: 34966180
Pediatr Res Β· 2022
0.90
3
LncRNA ZNF667-AS1 Targets miR-523-3p/KIF5C Axis to Hinder Colon Cancer Progression.
PMID: 37322260
Mol Biotechnol Β· 2024
0.80
4
Expanding the genetics and phenotypes of ocular congenital cranial dysinnervation disorders.
PMID: 39033378
Genet Med Β· 2025
0.70
5
HTT (huntingtin) and RAB7 co-migrate retrogradely on a signaling LAMP1-containing late endosome during axonal injury.
PMID: 36048753
Autophagy Β· 2023
0.60