KIF21A — kinesin family member 21A

5 sources retrieved · Most recent: April 2026 · Index updated 6 months ago

106PubMed Papers

#4,499 · top 23% of 19K genes

21Diseases

top 14%

0Drugs

14Pathogenic 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 musclesarthrogryposishereditary diseasefetal akinesia deformation sequence

AI Summary

AI summary not yet available. Showing NCBI Gene summary.

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

arthrogryposisOpen Targets

0.46Moderate

hereditary diseaseOpen Targets

0.42Moderate

fetal akinesia deformation sequenceOpen Targets

0.37Weak

Abnormality of eye movementOpen Targets

0.34Weak

obsessive-compulsive disorderOpen Targets

0.27Weak

bipolar disorderOpen Targets

0.26Weak

metabolic diseaseOpen Targets

0.26Weak

parasitic infectious diseaseOpen Targets

0.24Weak

gastric ulcerOpen Targets

0.20Weak

hemorrhageOpen Targets

0.20Weak

neuropathyOpen Targets

0.19Weak

Agenesis of corpus callosumOpen Targets

0.18Weak

frozen shoulderOpen Targets

0.17Weak

pulmonary vascular congestionOpen Targets

0.13Weak

hyperpigmentation of eyelidOpen Targets

0.08Suggestive

syndromic orbital border hypoplasiaOpen Targets

0.08Suggestive

Epiblepharon of lower lidOpen Targets

0.08Suggestive

asthmaOpen Targets

0.08Suggestive

congenital ptosisOpen Targets

0.08Suggestive

Fibrosis of extraocular muscles, congenital, 1UniProt

Pathogenic Variants14

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|Inborn genetic diseases

★★☆☆2026→ Residue 954

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

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

★★☆☆2025→ 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.2839A>G (p.Met947Val)Likely pathogenic

Congenital fibrosis of extraocular muscles type 1|KIF21A-related disorder

★☆☆☆2025→ Residue 947

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