KIF21A Chromosome 12
Kinesin family member 21A
Upload your DNA to see your personal genotypes for variants in KIF21A.
What This Gene Does
This gene encodes a member of the KIF4 subfamily of kinesin-like motor proteins. The encoded protein is characterized by an N-terminal motor domain a coiled-coil stalk domain and a C-terminal WD-40 repeat domain. This protein may be involved in microtubule dependent transport. Mutations in this gene are the cause of congenital fibrosis of extraocular muscles-1. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Mar 2010]
Gene Info
Gene Group
"WD repeat domain containing|Kinesins"
Locus Type
gene with protein product
Location
12q12
Ensembl
ENSG00000139116
Associated Conditions (8)
Inborn genetic diseases
KIF21A-related disorder
Congenital fibrosis of extraocular muscles type 1
Congenital fibrosis of extraocular muscles
Fibrosis of extraocular muscles
congenital
3b
Abnormality of eye movement
Key Variants
RS113878846
Conflicting classifications of pathogenicity
Inborn genetic diseases, KIF21A-related disorder, Inborn genetic diseases
Health Risk
RS140140022
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS141530856
Conflicting classifications of pathogenicity
Congenital fibrosis of extraocular muscles type 1, Inborn genetic diseases, Congenital fibrosis of extraocular muscles type 1
Health Risk
RS145533806
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS149328427
Conflicting classifications of pathogenicity
Congenital fibrosis of extraocular muscles type 1, Inborn genetic diseases, Congenital fibrosis of extraocular muscles type 1
Health Risk
RS149718388
Conflicting classifications of pathogenicity
Congenital fibrosis of extraocular muscles type 1, KIF21A-related disorder, Inborn genetic diseases
Health Risk
RS200645253
Conflicting classifications of pathogenicity
Congenital fibrosis of extraocular muscles type 1, Inborn genetic diseases, Congenital fibrosis of extraocular muscles
Health Risk
RS377193734
Conflicting classifications of pathogenicity
Inborn genetic diseases, Congenital fibrosis of extraocular muscles type 1, Inborn genetic diseases
Health Risk
RS745692702
Conflicting classifications of pathogenicity
Congenital fibrosis of extraocular muscles type 1, Inborn genetic diseases, Congenital fibrosis of extraocular muscles type 1
Health Risk
RS748963082
Conflicting classifications of pathogenicity
Congenital fibrosis of extraocular muscles type 1, Inborn genetic diseases, Congenital fibrosis of extraocular muscles type 1
Health Risk
RS762918844
Conflicting classifications of pathogenicity
KIF21A-related disorder, Inborn genetic diseases, KIF21A-related disorder
Health Risk
RS764601859
Conflicting classifications of pathogenicity
Congenital fibrosis of extraocular muscles type 1, Inborn genetic diseases, Congenital fibrosis of extraocular muscles type 1
Health Risk
All Variants (23)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS113878846 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, KIF21A-related disorder, Inborn genetic diseases |
| RS140140022 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS141530856 | Health Risk | Conflicting classifications of pathogenicity | Congenital fibrosis of extraocular muscles type 1, Inborn genetic diseases, Congenital fibrosis of extraocular muscles type 1 |
| RS145533806 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS149328427 | Health Risk | Conflicting classifications of pathogenicity | Congenital fibrosis of extraocular muscles type 1, Inborn genetic diseases, Congenital fibrosis of extraocular muscles type 1 |
| RS149718388 | Health Risk | Conflicting classifications of pathogenicity | Congenital fibrosis of extraocular muscles type 1, KIF21A-related disorder, Inborn genetic diseases |
| RS200645253 | Health Risk | Conflicting classifications of pathogenicity | Congenital fibrosis of extraocular muscles type 1, Inborn genetic diseases, Congenital fibrosis of extraocular muscles |
| RS377193734 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Congenital fibrosis of extraocular muscles type 1, Inborn genetic diseases |
| RS745692702 | Health Risk | Conflicting classifications of pathogenicity | Congenital fibrosis of extraocular muscles type 1, Inborn genetic diseases, Congenital fibrosis of extraocular muscles type 1 |
| RS748963082 | Health Risk | Conflicting classifications of pathogenicity | Congenital fibrosis of extraocular muscles type 1, Inborn genetic diseases, Congenital fibrosis of extraocular muscles type 1 |
| RS762918844 | Health Risk | Conflicting classifications of pathogenicity | KIF21A-related disorder, Inborn genetic diseases, KIF21A-related disorder |
| RS764601859 | Health Risk | Conflicting classifications of pathogenicity | Congenital fibrosis of extraocular muscles type 1, Inborn genetic diseases, Congenital fibrosis of extraocular muscles type 1 |
| RS121912590 | Health Risk | Likely pathogenic | Congenital fibrosis of extraocular muscles type 1, Inborn genetic diseases, KIF21A-related disorder |
| RS1555167299 | Health Risk | Likely pathogenic | KIF21A-related disorder, KIF21A-related disorder |
| RS2500143880 | Health Risk | Likely pathogenic | Congenital fibrosis of extraocular muscles type 1, Congenital fibrosis of extraocular muscles type 1 |
| RS267603451 | Health Risk | Likely pathogenic | Congenital fibrosis of extraocular muscles type 1, Congenital fibrosis of extraocular muscles type 1 |
| RS121912585 | Health Risk | Pathogenic | Congenital fibrosis of extraocular muscles type 1, Fibrosis of extraocular muscles, congenital |
| RS121912586 | Health Risk | Pathogenic | Fibrosis of extraocular muscles, congenital, 3b |
| RS121912587 | Health Risk | Pathogenic | Congenital fibrosis of extraocular muscles type 1, Congenital fibrosis of extraocular muscles type 1 |
| RS121912588 | Health Risk | Pathogenic | Congenital fibrosis of extraocular muscles type 1, Congenital fibrosis of extraocular muscles type 1 |
| RS121912589 | Health Risk | Pathogenic | Congenital fibrosis of extraocular muscles type 1, Congenital fibrosis of extraocular muscles type 1 |
| RS2500405629 | Health Risk | Pathogenic | Congenital fibrosis of extraocular muscles type 1, Congenital fibrosis of extraocular muscles type 1 |
| RS267607200 | Health Risk | Pathogenic | Fibrosis of extraocular muscles, congenital, 3b |