KIFC2
Kinesin Family Member C2
Gene Information Card
| Symbol | KIFC2 |
|---|---|
| Full Name | Kinesin Family Member C2 |
| Gene Type | Protein coding |
| Chromosomal Location | 8q24.3 |
| NCBI Gene ID | 9097 ncbi.nlm.nih.gov/gene/9097 |
| Ensembl ID | ENSG00000104419 |
| UniProt ID | Q9H1H9 |
| OMIM ID | 611552 |
| HGNC ID | 6322 |
| Aliases | KNSL2, KIFC2A |
Description
KIFC2 encodes a member of the kinesin-14 family of microtubule motor proteins. The protein is a minus-end-directed motor that plays a role in intracellular transport, spindle assembly, and chromosome segregation during cell division. It is involved in vesicle transport and may function in neuronal cells.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Altered expression or mutation may affect mitotic spindle dynamics and chromosome stability, contributing to tumorigenesis. | COSMIC; literature |
| Neurodevelopmental disorders | Potential role in neuronal transport; mutations may disrupt axonal trafficking. | ClinVar; limited evidence |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Brain | 8.3 | Low |
| Lung | 5.1 | Low |
| Liver | 3.2 | Low |
| Kidney | 4.0 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 6.8 | Cervical cancer cell line |
| HEK293 | 5.2 | Embryonic kidney cells |
| SH-SY5Y | 7.1 | Neuroblastoma cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412Cys) | Missense | <0.01% | Unknown; predicted benign |
| c.567_569del (p.Lys189del) | In-frame deletion | <0.01% | Unknown; may affect motor domain |
Mutation functional classification
Loss of Function (LOF)
Not well characterized; potential loss of motor activity may impair microtubule-based transport.
Gain of Function (GOF)
No evidence.
Dominant Negative (DN)
No evidence.
View complete mutation data：
Gene Ontology (GO)
| • microtubule motor activity | • ATP binding |
| • microtubule binding | • minus-end-directed microtubule movement |
| • cell division | • mitotic spindle organization |
Pathways
• Kinesin-mediated transport
• Mitotic spindle assembly
Protein Summary
KIFC2 is a 792-amino acid protein with an N-terminal motor domain that binds microtubules and hydrolyzes ATP to generate force toward the minus end. It contains a coiled-coil region for dimerization and cargo binding. The protein is involved in vesicle transport, spindle pole focusing, and chromosome movement.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| KIFC2 Knockout HEK293 Cell Line | EDJ-KQ10681 | Human | 90990 | Details Get a Quote |
| KIFC2 Knockout A-549 Cell Line | EDJ-KQ38214 | Human | 90990 | Details Get a Quote |
| KIFC2 Knockout HCT 116 Cell Line | EDJ-KQ38215 | Human | 90990 | Details Get a Quote |
| KIFC2 Knockout HeLa Cell Line | EDJ-KQ38216 | Human | 90990 | Details Get a Quote |
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