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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.
KIF4A
kinesin family member 4A
Chromosome X Β· Xq13.1
NCBI Gene: 24137Ensembl: ENSG00000090889.13HGNC: HGNC:13339UniProt: O95239
166PubMed Papers
22Diseases
0Drugs
8Pathogenic Variants
FUNCTIONAL ROLE
Highly ConstrainedHub Gene
RESEARCH IMPACT
Trending
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
protein bindingmitotic cytokinesismembranemitotic spindle midzone assemblyintellectual disability, X-linked 100neurodegenerative diseasetaurodontism, microdontia, and dens invaginatusHydrocephalus
✦AI Summary

KIF4A is a multifunctional motor protein essential for proper chromosome X and cell division. As a chrX, KIF4A plays dual roles in mitosis: it directly binds the condensin I complex via a conserved motif in its C-terminal tail to activate chromosome X 1, and it translocates PRC1 to interdigitating spindle microtubules during anaphase to assemble the central spindle midzone required for cytokinesis 2. During spindle elongation, KIF4A functions as a crosslinker-assisted motor alongside EG5/kinesin-5 to drive microtubule sliding and chromosome X 3. Beyond canonical mitotic functions, KIF4A is aberrantly expressed across diverse cancers where it typically promotes tumorigenesis, therapy resistance, and metabolic reprogramming through enhanced glycolysis and cancer stemness 456. KIF4A overexpression correlates with poor prognosis in hepatocellular carcinoma and osteosarcoma 57, though paradoxically shows tumor-suppressive effects in cervical cancer 4. Germ-line KIF4A mutations cause X-linked intellectual disability type 100 (XLID100), characterized by intellectual impairment, language delay, and autism 8. The essential nature of KIF4A in mitosis and neuronal function complicates therapeutic targeting, necessitating tumor-selective delivery strategies 4.

Sources cited
1
KIF4A binds condensin I NCAPG subunit via C-terminal SLiM to activate chromosome condensation
PMID: 39690239
2
KIF4A is a key non-histone protein required for mitotic chromosome formation and structure
PMID: 33836947
3
KIF4A and EG5 work as mechanistically distinct sliding modules to drive spindle elongation via microtubule sliding
PMID: 33910056
4
KIF4A regulates tumorigenesis, therapy resistance, metabolic reprogramming across cancer types; paradoxically tumor-suppressive in cervical cancer
PMID: 41361459
5
KIF4A upregulation in hepatocellular carcinoma correlates with poor prognosis and enhanced proliferation/invasion
PMID: 28646197
6
KIF4A facilitates oxaliplatin resistance in colon cancer by promoting glycolysis and cancer stemness
PMID: 40147432
7
KIF4A identified as hub gene in osteosarcoma metastasis networks
PMID: 39324133
8
KIF4A mutations cause X-linked intellectual disability type 100 with intellectual impairment and autism phenotype
PMID: 40372222
Disease Associationsβ“˜22
intellectual disability, X-linked 100Open Targets
0.62Moderate
neurodegenerative diseaseOpen Targets
0.54Moderate
taurodontism, microdontia, and dens invaginatusOpen Targets
0.48Moderate
HydrocephalusOpen Targets
0.44Moderate
X-linked non-syndromic intellectual disabilityOpen Targets
0.42Moderate
Agenesis of corpus callosumOpen Targets
0.26Weak
isolated cerebellar hypoplasia/agenesisOpen Targets
0.26Weak
multicystic dysplastic kidneyOpen Targets
0.26Weak
VentriculomegalyOpen Targets
0.26Weak
obesityOpen Targets
0.12Weak
Delayed speech and language developmentOpen Targets
0.12Weak
flatfootOpen Targets
0.12Weak
Gait disturbanceOpen Targets
0.12Weak
Generalized hypotoniaOpen Targets
0.12Weak
GynecomastiaOpen Targets
0.12Weak
Horizontal nystagmusOpen Targets
0.12Weak
HypotoniaOpen Targets
0.12Weak
IncoordinationOpen Targets
0.12Weak
Sleep disturbanceOpen Targets
0.12Weak
hepatocellular carcinomaOpen Targets
0.12Weak
Intellectual developmental disorder, X-linked 100UniProt
Taurodontism, microdontia, and dens invaginatusUniProt
Pathogenic Variants8
NM_012310.5(KIF4A):c.1778+21T>CLikely pathogenic
Intellectual disability, X-linked 100
β˜…β˜†β˜†β˜†2025
NM_012310.5(KIF4A):c.2312G>A (p.Arg771Lys)Pathogenic
Taurodontism, microdontia, and dens invaginatus
β˜†β˜†β˜†β˜†2023β†’ Residue 771
NM_012310.5(KIF4A):c.949G>C (p.Asp317His)Pathogenic
Taurodontism, microdontia, and dens invaginatus
β˜†β˜†β˜†β˜†2023β†’ Residue 317
NM_012310.5(KIF4A):c.1674+1G>APathogenic
Intellectual disability, X-linked 100
β˜†β˜†β˜†β˜†2023
NM_012310.5(KIF4A):c.1616T>C (p.Leu539Pro)Pathogenic
Intellectual disability, X-linked 100
β˜†β˜†β˜†β˜†2023β†’ Residue 539
NM_012310.5(KIF4A):c.763G>A (p.Asp255Asn)Pathogenic
Intellectual disability, X-linked 100
β˜†β˜†β˜†β˜†2023β†’ Residue 255
NM_012310.5(KIF4A):c.794G>T (p.Arg265Leu)Likely pathogenic
Corpus callosum, agenesis of;Intellectual disability, X-linked 100;Hydrocephalus;Ventriculomegaly;Multicystic kidney dysplasia|Congenital cerebellar hypoplasia
β˜†β˜†β˜†β˜†2019β†’ Residue 265
NM_012310.5(KIF4A):c.1489-8_1490delinsATAATGAAAGPathogenic
Intellectual disability, X-linked 100
β˜†β˜†β˜†β˜†2014
View on ClinVar β†—
Related Genes
CDC20Protein interaction100%CCNB2Protein interaction99%UBE2CProtein interaction99%CCNB1Protein interaction98%CENPEProtein interaction96%FOXM1Protein interaction96%
Tissue Expression6 tissues
Bone Marrow
100%
Brain
43%
Lung
2%
Heart
1%
Liver
1%
Ovary
1%
Gene Interaction Network
Click a node to explore
KIF4ACDC20CCNB2UBE2CCCNB1CENPEFOXM1
PROTEIN STRUCTURE
Preparing viewer…
PDB6OYL Β· 3.15 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.12Highly Constrained
pLIβ“˜
1.00Intolerant
Observed/Expected LoF0.07 [0.04–0.12]
RankingsWhere KIF4A stands among ~20K protein-coding genes
  • #2,690of 20,598
    Most Researched166 Β· top quartile
  • #3,036of 5,498
    Most Pathogenic Variants8
  • #120of 17,882
    Most Constrained (LOEUF)0.12 Β· top 1%
Genes detectedKIF4A
Sources retrieved25 papers
Response timeβ€”
πŸ“„ Sources
25β–Ό
1
Mitotic chromosomes.
PMID: 33836947
Semin Cell Dev Biol Β· 2021
1.00
2
KIF4A in disease pathogenesis and therapeutics: from molecular mechanisms to clinical translation.
PMID: 41361459
Biol Direct Β· 2025
0.90
3
Single-cell RNA sequencing reveals the communications between tumor microenvironment components and tumor metastasis in osteosarcoma.
PMID: 39324133
Front Immunol Β· 2024
0.80
4
Prognostic Value and Immune-Infiltration Pattern of
PMID: 35126794
Dis Markers Β· 2022
0.80
5
Expanding the KIF4A-associated phenotype.
PMID: 34346154
Am J Med Genet A Β· 2021
0.76