KIF2A
Kinesin Family Member 2A
Gene Information Card
| Symbol | KIF2A |
|---|---|
| Full Name | Kinesin Family Member 2A |
| Gene Type | Protein coding |
| Chromosomal Location | 5q12.1 |
| NCBI Gene ID | 3796 ncbi.nlm.nih.gov/gene/3796 |
| Ensembl ID | ENSG00000168807 |
| UniProt ID | O00139 |
| OMIM ID | 602591 |
| HGNC ID | 6318 |
| Aliases | KIF2, HK2, KNS2, CDCBM3, SPG59 |
Description
KIF2A encodes a member of the kinesin-13 family of microtubule depolymerases. The protein is a plus-end-directed motor that uses ATP hydrolysis to depolymerize microtubules at their plus ends, essential for proper mitotic spindle assembly, chromosome segregation, and neuronal migration. Mutations in KIF2A cause malformations of cortical development (e.g., microcephaly, pachygyria) and hereditary spastic paraplegia.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Malformations of cortical development (MCD) | Loss-of-function mutations impair microtubule depolymerization, disrupting neuronal migration and cortical lamination | PMID: 24794856, ClinVar |
| Hereditary spastic paraplegia 59 (SPG59) | Missense mutations reduce motor activity, leading to axonal transport defects and corticospinal tract degeneration | PMID: 24794856, OMIM #602591 |
| Microcephaly | Biallelic loss-of-function variants cause reduced brain size due to impaired mitotic spindle dynamics | PMID: 24794856, ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | High |
| Testis | 8.2 | Medium |
| Lung | 6.1 | Medium |
| Kidney | 5.4 | Medium |
| Liver | 3.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 10.1 | High expression |
| HeLa | 8.7 | High expression |
| SH-SY5Y | 7.3 | Medium expression |
| U2OS | 6.9 | Medium expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.149C>T (p.Thr50Met) | Missense | Rare | Reduced ATPase activity; associated with SPG59 |
| c.1045C>T (p.Arg349*) | Nonsense | Rare | Loss-of-function; associated with MCD |
| c.1721G>A (p.Arg574His) | Missense | Rare | Impaired microtubule depolymerization; associated with MCD |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations that truncate the protein, leading to haploinsufficiency or complete loss of microtubule depolymerase activity.
Gain of Function (GOF)
Not reported for KIF2A.
Dominant Negative (DN)
Missense mutations in the motor domain that interfere with wild-type KIF2A function, causing dominant inheritance in some MCD cases.
View complete mutation data：
Gene Ontology (GO)
| • Microtubule binding (GO:0008017) | • ATP binding (GO:0005524) |
| • Microtubule depolymerization (GO:0007019) | • Mitotic spindle assembly (GO:0090307) |
| • Neuronal migration (GO:0001764) |
Pathways
• Kinesin-mediated microtubule depolymerization (Reactome: R-HSA-983189)
• Mitotic spindle organization (Reactome: R-HSA-68886)
• Neuronal system (Reactome: R-HSA-112316)
Protein Summary
KIF2A is a 725-amino acid kinesin-13 family member that localizes to microtubule plus ends and uses ATP hydrolysis to remove tubulin dimers, thereby regulating microtubule dynamics during mitosis and neuronal development. The protein contains a conserved motor domain and a neck region essential for depolymerization activity. Mutations in KIF2A disrupt cortical development and cause hereditary spastic paraplegia.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| KIF2A Knockout HEK293 Cell Line | EDJ-KQ5056 | Human | 3796 | Details Get a Quote |
| KIF2A Knockout A-549 Cell Line | EDJ-KQ27959 | Human | 3796 | Details Get a Quote |
| KIF2A Knockout HCT 116 Cell Line | EDJ-KQ27960 | Human | 3796 | Details Get a Quote |
| KIF2A Knockout HeLa Cell Line | EDJ-KQ27961 | Human | 3796 | Details Get a Quote |
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