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GeneE
25 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.
KIF2A
kinesin family member 2A
Chromosome 5 Β· 5q12.1
NCBI Gene: 3796Ensembl: ENSG00000068796.19HGNC: HGNC:6318UniProt: A0A6Q8PFA6
184PubMed Papers
21Diseases
0Drugs
7Pathogenic Variants
RESEARCH IMPACT
Trending
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
spindle polemicrotubulespindle microtubuleprotein bindingGenetic central nervous system malformationneurodegenerative diseasehypertensionmajor depressive disorder
✦AI Summary

KIF2A (kinesin family member 2A) is a plus end-directed microtubule motor protein with critical roles in brain development and cellular mitosis 1. As a member of the kinesin-13 family, KIF2A functions primarily as a microtubule depolymerizing enzyme, regulating microtubule dynamics during axonal growth and spindle assembly 2. The protein is essential for normal progression through mitosis, chromosome 5 at the metaphase plate, and spindle dynamics 1. In the mature brain, KIF2A is required for neuronal survival and maintains dendritic spine density and maturation 3. Loss of KIF2A function leads to cognitive decline and increased tau phosphorylation through ERK1/2 activation 3. Additionally, KIF2A interacts with Smek1 through its Ran-binding domain, and this interaction is crucial for proper axon outgrowth and mitochondrial trafficking 4. Clinically, KIF2A dysregulation is associated with cortical dysplasia and severe brain malformations 1. The protein is also implicated in various cancers, where high expression correlates with poor prognosis, advanced clinical stage, and metastasis 52. In gastric cancer, KIF2A promotes tumor progression via AKT signaling and is upregulated by transcription factor ETV4 6. In hepatocellular carcinoma, KIF2A enhances malignant progression and angiogenesis through interaction with Notch1 signaling 7.

Sources cited
1
KIF2A is a plus end-directed microtubule motor essential for brain development and mitosis
PMID: 27454254
2
KIF2A is a kinesin-13 family member involved in microtubule depolymerization and spindle assembly
PMID: 26707290
3
KIF2A is required for neuronal survival, dendritic spine maintenance, and prevents tau phosphorylation
PMID: 41071932
4
KIF2A interacts with Smek1 and regulates axon outgrowth and mitochondrial trafficking
PMID: 39206808
5
High KIF2A expression correlates with poor prognosis and metastasis in various cancers
PMID: 31725680
6
KIF2A promotes gastric cancer progression via AKT signaling and is regulated by ETV4
PMID: 32106376
7
KIF2A enhances hepatocellular carcinoma progression through Notch1 interaction
PMID: 36277155
Disease Associationsβ“˜21
Genetic central nervous system malformationOpen Targets
0.76Strong
neurodegenerative diseaseOpen Targets
0.40Moderate
hypertensionOpen Targets
0.35Weak
major depressive disorderOpen Targets
0.32Weak
liver diseaseOpen Targets
0.27Weak
cardiomyopathyOpen Targets
0.26Weak
Abnormal cerebral morphologyOpen Targets
0.26Weak
post-traumatic stress disorderOpen Targets
0.25Weak
insomniaOpen Targets
0.25Weak
hypothyroidismOpen Targets
0.21Weak
ovarian dysfunctionOpen Targets
0.20Weak
substance-related disorderOpen Targets
0.19Weak
response to xenobiotic stimulusOpen Targets
0.19Weak
genetic disorderOpen Targets
0.19Weak
ovarian neoplasmOpen Targets
0.19Weak
bone fractureOpen Targets
0.18Weak
diabetes mellitusOpen Targets
0.18Weak
gastroenteritisOpen Targets
0.18Weak
Sjogren syndromeOpen Targets
0.18Weak
Alzheimer diseaseOpen Targets
0.18Weak
Cortical dysplasia, complex, with other brain malformations 3UniProt
Pathogenic Variants7
NM_001098511.3(KIF2A):c.950G>A (p.Ser317Asn)Pathogenic
Complex cortical dysplasia with other brain malformations 3|not provided
β˜…β˜…β˜†β˜†2023β†’ Residue 317
NM_001098511.3(KIF2A):c.217G>A (p.Glu73Lys)Likely pathogenic
Complex cortical dysplasia with other brain malformations 3
β˜…β˜…β˜†β˜†2023β†’ Residue 73
NM_001098511.3(KIF2A):c.959C>T (p.Thr320Ile)Pathogenic
Complex cortical dysplasia with other brain malformations 3
β˜…β˜…β˜†β˜†2022β†’ Residue 320
NM_001098511.3(KIF2A):c.938G>A (p.Gly313Glu)Likely pathogenic
Complex cortical dysplasia with other brain malformations 3|not provided
β˜…β˜…β˜†β˜†2018β†’ Residue 313
NM_001098511.3(KIF2A):c.283C>T (p.Arg95Ter)Pathogenic
Complex cortical dysplasia with other brain malformations 3
β˜†β˜†β˜†β˜†2019β†’ Residue 95
NM_001098511.3(KIF2A):c.961C>G (p.His321Asp)Pathogenic
Complex cortical dysplasia with other brain malformations 3
β˜†β˜†β˜†β˜†2013β†’ Residue 321
NM_001098511.3(KIF2A):c.1444A>C (p.Asn482His)Likely pathogenic
Abnormal cerebral morphology
β˜†β˜†β˜†β˜†β†’ Residue 482
View on ClinVar β†—
Related Genes
ODF2Protein interaction93%TUBB2BProtein interaction91%CNTRLProtein interaction88%PLK1Protein interaction86%NDE1Protein interaction86%NDEL1Protein interaction85%
Tissue Expression6 tissues
Brain
100%
Bone Marrow
39%
Lung
18%
Heart
17%
Ovary
16%
Liver
9%
Gene Interaction Network
Click a node to explore
KIF2AODF2TUBB2BCNTRLPLK1NDE1NDEL1
PROTEIN STRUCTURE
Preparing viewer…
PDB9KD4 Β· 1.64 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.62LoF Tolerant
pLIβ“˜
0.76Intermediate
Observed/Expected LoF0.34 [0.20–0.62]
RankingsWhere KIF2A stands among ~20K protein-coding genes
  • #2,350of 20,598
    Most Researched184 Β· top quartile
  • #3,164of 5,498
    Most Pathogenic Variants7
  • #4,304of 17,882
    Most Constrained (LOEUF)0.62 Β· top quartile
Genes detectedKIF2A
Sources retrieved25 papers
Response timeβ€”
πŸ“„ Sources
25β–Ό
1
Prognostic significance of KIF2A and KIF20A expression in human cancer: A systematic review and meta-analysis.
PMID: 31725680
Medicine (Baltimore) Β· 2019
1.00
2
Role of KIF2A in the progression and metastasis of human glioma.
PMID: 26707290
Mol Med Rep Β· 2016
0.90
3
Loss of Smek1 Induces Tauopathy and Triggers Neurodegeneration by Regulating Microtubule Stability.
PMID: 39206808
Adv Sci (Weinh) Β· 2024
0.80
4
Abstracts from the 3rd International Genomic Medicine Conference (3rd IGMC 2015) : Jeddah, Kingdom of Saudi Arabia. 30 November - 3 December 2015.
PMID: 27454254
BMC Genomics Β· 2016
0.70
5
Arf GAPs and molecular motors.
PMID: 28430047
Small GTPases Β· 2019
0.68