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GeneE
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KIF21A
kinesin family member 21A
Chromosome 12 Β· 12q12
NCBI Gene: 55605Ensembl: ENSG00000139116.20HGNC: HGNC:19349UniProt: Q7Z4S6
106PubMed Papers
21Diseases
0Drugs
15Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-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 β€” This gene has 0 indexed publications. Summary and analysis may be incomplete.
Disease Associationsβ“˜21
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
β˜…β˜…β˜†β˜†2024β†’ 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
β˜…β˜…β˜†β˜†2024β†’ Residue 954
NM_001173464.2(KIF21A):c.1991T>C (p.Leu664Pro)Likely pathogenic
not provided|KIF21A-related disorder
β˜…β˜†β˜†β˜†2025β†’ Residue 664
NM_001173464.2(KIF21A):c.4952G>A (p.Trp1651Ter)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 1651
NM_001173464.2(KIF21A):c.2418+1G>ALikely pathogenic
not provided
β˜…β˜†β˜†β˜†2025
NM_001173464.2(KIF21A):c.2840T>G (p.Met947Arg)Pathogenic
Congenital fibrosis of extraocular muscles type 1|Inborn genetic diseases
β˜…β˜†β˜†β˜†2024β†’ Residue 947
NM_001173464.2(KIF21A):c.2861G>T (p.Arg954Leu)Likely pathogenic
Congenital fibrosis of extraocular muscles type 1
β˜…β˜†β˜†β˜†2024β†’ Residue 954
NM_001173464.2(KIF21A):c.706C>T (p.Gln236Ter)Likely pathogenic
Congenital fibrosis of extraocular muscles type 1
β˜…β˜†β˜†β˜†2023β†’ Residue 236
NM_001173464.2(KIF21A):c.2840T>C (p.Met947Thr)Likely pathogenic
KIF21A-related disorder
β˜…β˜†β˜†β˜†2023β†’ Residue 947
NM_001173464.2(KIF21A):c.2371del (p.Arg791fs)Pathogenic
Congenital fibrosis of extraocular muscles type 1
β˜…β˜†β˜†β˜†2023β†’ Residue 791
NM_001173464.2(KIF21A):c.2515C>T (p.Pro839Ser)Likely pathogenic
Congenital fibrosis of extraocular muscles type 1
β˜…β˜†β˜†β˜†2021β†’ Residue 839
NM_001173464.2(KIF21A):c.2841G>A (p.Met947Ile)Pathogenic
Fibrosis of extraocular muscles, congenital, 3b
β˜†β˜†β˜†β˜†2004β†’ Residue 947
NM_001173464.2(KIF21A):c.2839A>G (p.Met947Val)Pathogenic
Congenital fibrosis of extraocular muscles type 1
β˜†β˜†β˜†β˜†2003β†’ Residue 947
NM_001173464.2(KIF21A):c.3029T>C (p.Ile1010Thr)Pathogenic
Congenital fibrosis of extraocular muscles type 1
β˜†β˜†β˜†β˜†2003β†’ Residue 1010
NM_001173464.2(KIF21A):c.1067T>C (p.Met356Thr)Pathogenic
Congenital fibrosis of extraocular muscles type 1
β˜†β˜†β˜†β˜†2003β†’ Residue 356
View on ClinVar β†—
Related Genes
KANK1Protein interaction100%KANK2Protein interaction96%PHOX2AProtein interaction96%TUBB3Protein interaction96%KIF11Protein interaction90%KIF22Protein interaction81%
Tissue Expression6 tissues
Brain
100%
Heart
88%
Liver
37%
Ovary
12%
Bone Marrow
7%
Lung
6%
Gene Interaction Network
Click a node to explore
KIF21AKANK1KANK2PHOX2ATUBB3KIF11KIF22
PROTEIN STRUCTURE
Preparing viewer…
PDB7KLJ Β· 1.52 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.61LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.50 [0.41–0.61]
RankingsWhere KIF21A stands among ~20K protein-coding genes
  • #4,486of 20,598
    Most Researched106 Β· top quartile
  • #2,446of 5,498
    Most Pathogenic Variants15
  • #4,201of 17,882
    Most Constrained (LOEUF)0.61 Β· top quartile
Genes detectedKIF21A
Sources retrieved0 papers
Response timeβ€”