KIF21A — kinesin family member 21A

5 sources retrieved · Most recent: April 2026 · Index updated 3 months ago

106PubMed Papers

#4,499 · top 23% of 19K genes

21Diseases

top 14%

0Drugs

15Pathogenic Variants

top 45%

OMIM Disease GeneExperimental GO EvidenceSwiss-Prot Reviewed

regulation of axon guidancecortical microtubule organizationregulation of microtubule polymerizationregulation of microtubule depolymerizationcongenital fibrosis of the extraocular musclescongenital fibrosis of extraocular musclesarthrogryposisgenetic disorder

AI Summary

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kinesin family member 21A

⚠Limited data available — This gene has 0 indexed publications. Summary and analysis may be incomplete.

Disease Associations21

congenital fibrosis of the extraocular musclesOpen Targets

0.82Strong

congenital fibrosis of extraocular musclesOpen Targets

0.63Moderate

arthrogryposisOpen Targets

0.46Moderate

genetic disorderOpen Targets

0.42Moderate

fetal akinesia deformation sequenceOpen Targets

0.37Weak

fetal akinesia deformation sequence 1Open Targets

0.37Weak

Abnormality of eye movementOpen Targets

0.34Weak

metabolic diseaseOpen Targets

0.29Weak

bipolar disorderOpen Targets

0.28Weak

parasitic infectionOpen Targets

0.18Weak

frozen shoulderOpen Targets

0.17Weak

gastric ulcerOpen Targets

0.13Weak

pulmonary vascular congestionOpen Targets

0.12Weak

hemorrhageOpen Targets

0.12Weak

smoking initiationOpen Targets

0.06Suggestive

asthmaOpen Targets

0.06Suggestive

maturity-onset diabetes of the young type 3Open Targets

0.05Suggestive

MODYOpen Targets

0.05Suggestive

Congenital ptosisOpen Targets

0.05Suggestive

3-hydroxy-3-methylglutaryl-CoA synthase deficiencyOpen Targets

0.05Suggestive

Fibrosis of extraocular muscles, congenital, 1UniProt

Pathogenic Variants15

NM_001173464.2(KIF21A):c.2860C>T (p.Arg954Trp)Pathogenic

Congenital fibrosis of extraocular muscles type 1|Fibrosis of extraocular muscles, congenital, 3b|not provided|KIF21A-related disorder

★★☆☆2024→ Residue 954

NM_001173464.2(KIF21A):c.2861G>A (p.Arg954Gln)Pathogenic

Congenital fibrosis of extraocular muscles type 1|Fibrosis of extraocular muscles, congenital, 3b|not provided|Abnormality of eye movement

★★☆☆2024→ Residue 954

NM_001173464.2(KIF21A):c.1991T>C (p.Leu664Pro)Likely pathogenic

not provided|KIF21A-related disorder

★☆☆☆2025→ Residue 664

NM_001173464.2(KIF21A):c.4952G>A (p.Trp1651Ter)Likely pathogenic

not provided

★☆☆☆2025→ Residue 1651

NM_001173464.2(KIF21A):c.2418+1G>ALikely pathogenic

not provided

★☆☆☆2025

NM_001173464.2(KIF21A):c.2840T>G (p.Met947Arg)Pathogenic

Congenital fibrosis of extraocular muscles type 1|Inborn genetic diseases

★☆☆☆2024→ Residue 947

NM_001173464.2(KIF21A):c.2861G>T (p.Arg954Leu)Likely pathogenic