KIF2A Chromosome 5
Kinesin family member 2A
Upload your DNA to see your personal genotypes for variants in KIF2A.
What This Gene Does
The protein encoded by this gene is a plus end-directed motor required for normal mitotic progression. The encoded protein is required for normal spindle activity during mitosis and is necessary for normal brain development. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011]
Gene Info
Gene Group
Kinesins
Locus Type
gene with protein product
Location
5q12.1
Ensembl
ENSG00000068796
Associated Conditions (6)
Inborn genetic diseases
Complex cortical dysplasia with other brain malformations 3
Thyroid cancer
nonmedullary
1
Abnormal cerebral morphology
Key Variants
RS1175132161
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1415260207
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS141548628
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS2531393831
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS368021683
Conflicting classifications of pathogenicity
Inborn genetic diseases, Complex cortical dysplasia with other brain malformations 3, Thyroid cancer
Health Risk
RS370754960
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS370786223
Conflicting classifications of pathogenicity
Inborn genetic diseases, Complex cortical dysplasia with other brain malformations 3, Inborn genetic diseases
Health Risk
RS533812435
Conflicting classifications of pathogenicity
Health Risk
RS758143705
Conflicting classifications of pathogenicity
Health Risk
RS767803536
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS771712968
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS780183716
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
All Variants (20)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1175132161 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS1415260207 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS141548628 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS2531393831 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS368021683 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Complex cortical dysplasia with other brain malformations 3, Thyroid cancer |
| RS370754960 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS370786223 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Complex cortical dysplasia with other brain malformations 3, Inborn genetic diseases |
| RS533812435 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS758143705 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS767803536 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS771712968 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS780183716 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS972154930 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS1561273261 | Health Risk | Likely pathogenic | Complex cortical dysplasia with other brain malformations 3, Complex cortical dysplasia with other brain malformations 3 |
| RS1747667870 | Health Risk | Likely pathogenic | Complex cortical dysplasia with other brain malformations 3, Complex cortical dysplasia with other brain malformations 3 |
| RS2111960756 | Health Risk | Likely pathogenic | Abnormal cerebral morphology, Abnormal cerebral morphology |
| RS1580059038 | Health Risk | Pathogenic | Complex cortical dysplasia with other brain malformations 3, Complex cortical dysplasia with other brain malformations 3 |
| RS587777033 | Health Risk | Pathogenic | Complex cortical dysplasia with other brain malformations 3, Complex cortical dysplasia with other brain malformations 3 |
| RS587777034 | Health Risk | Pathogenic | Complex cortical dysplasia with other brain malformations 3, Complex cortical dysplasia with other brain malformations 3 |
| RS1554042050 | Health Risk | Pathogenic/Likely pathogenic | Complex cortical dysplasia with other brain malformations 3, Complex cortical dysplasia with other brain malformations 3 |