CKAP2L
Cytoskeleton-associated protein 2-like
Gene Information Card
| Symbol | CKAP2L |
|---|---|
| Full Name | Cytoskeleton-associated protein 2-like |
| Gene Type | Protein-coding |
| Chromosomal Location | 2q14.3 |
| NCBI Gene ID | 150468 ncbi.nlm.nih.gov/gene/150468 |
| Ensembl ID | ENSG00000169621 |
| UniProt ID | Q8NCM8 |
| OMIM ID | 616174 |
| HGNC ID | 26876 |
| Aliases | FLJ10782, MCPH22 |
Description
CKAP2L (cytoskeleton-associated protein 2-like) encodes a protein involved in microtubule dynamics and spindle formation during mitosis. It is essential for proper cell division and neuronal progenitor proliferation. Mutations in CKAP2L cause autosomal recessive primary microcephaly type 22 (MCPH22), characterized by reduced brain size and intellectual disability.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Primary microcephaly 22 (MCPH22) | Loss-of-function mutations impair mitotic spindle organization and reduce neuronal progenitor proliferation | OMIM #616174; ClinVar pathogenic variants |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Bone marrow | 8.2 | Low |
| Brain | 6.1 | Low |
| Lymph node | 5.4 | Low |
| Spleen | 4.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| K-562 | 9.3 | Leukemia cell line |
| HeLa | 7.1 | Cervical carcinoma |
| HEK 293 | 6.5 | Embryonic kidney |
| A549 | 5.2 | Lung carcinoma |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.109C>T (p.Arg37Ter) | Nonsense | Rare | Loss-of-function; associated with MCPH22 |
| c.346G>A (p.Gly116Arg) | Missense | Rare | Likely damaging; disrupts microtubule binding |
| c.523_524del (p.Leu175fs) | Frameshift | Rare | Loss-of-function; truncation |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift variants cause premature termination, leading to reduced protein levels and impaired mitotic spindle function.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • microtubule binding | • spindle organization |
| • mitotic cell cycle | • cytoskeleton |
| • nucleus | • cytoplasm |
Pathways
• Cell cycle (mitotic)
• Microtubule cytoskeleton organization
Protein Summary
The CKAP2L protein is a 648-amino-acid cytoskeleton-associated protein that localizes to the mitotic spindle and centrosomes. It promotes microtubule stability and is required for proper chromosome segregation during mitosis. The protein is highly expressed in proliferating tissues and is critical for neurogenesis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CKAP2L Knockout HEK293 Cell Line | EDJ-KQ11301 | Human | 150468 | Details Get a Quote |
| CKAP2L Knockout A-549 Cell Line | EDJ-KQ39422 | Human | 150468 | Details Get a Quote |
| CKAP2L Knockout HCT 116 Cell Line | EDJ-KQ39423 | Human | 150468 | Details Get a Quote |
| CKAP2L Knockout HeLa Cell Line | EDJ-KQ39424 | Human | 150468 | Details Get a Quote |
