CDK5RAP2 Gene
CDK5 Regulatory Subunit Associated Protein 2
Gene Information Card
| Symbol | CDK5RAP2 |
|---|---|
| Full Name | CDK5 regulatory subunit associated protein 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 9q33.2 |
| NCBI Gene ID | 55755 ncbi.nlm.nih.gov/gene/55755 |
| Ensembl ID | ENSG00000136861 |
| UniProt ID | Q96SN8 |
| OMIM ID | 608201 |
| HGNC ID | 18699 |
| Aliases | MCPH3, Cep215, KIAA1633 |
Description
CDK5RAP2 (CDK5 regulatory subunit associated protein 2) is a protein-coding gene that encodes a centrosomal protein essential for microtubule organization, centrosome cohesion, and mitotic spindle formation. Mutations in this gene are associated with primary autosomal recessive microcephaly type 3 (MCPH3).
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Primary autosomal recessive microcephaly 3 (MCPH3) | Loss-of-function mutations impair centrosome duplication and spindle pole integrity, leading to reduced neuronal progenitor proliferation | OMIM #604804 |
| Microcephaly with simplified gyral pattern | Disruption of centrosomal function affects cortical development | ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.3 | Medium |
| Brain | 8.5 | Medium |
| Lymph node | 6.2 | Low |
| Bone marrow | 5.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 15.0 | High expression |
| HeLa | 10.2 | Medium expression |
| SH-SY5Y | 8.7 | Medium expression |
| U2OS | 7.4 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.4005C>A (p.Tyr1335*) | Nonsense | Rare | Premature stop, loss of function |
| c.3490C>T (p.Arg1164Trp) | Missense | Rare | Impaired centrosomal localization |
| c.4171_4172del (p.Glu1391fs) | Frameshift | Rare | Truncated protein, loss of function |
Mutation functional classification
Loss of Function (LOF)
Most MCPH3-associated mutations are loss-of-function, leading to truncated or unstable protein.
Gain of Function (GOF)
No evidence of gain-of-function mutations.
Dominant Negative (DN)
Not reported; inheritance is autosomal recessive.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Centrosome maturation and duplication
• Microtubule nucleation
• Mitotic spindle assembly
Protein Summary
CDK5RAP2 is a 1893-amino acid centrosomal protein that localizes to the pericentriolar material. It interacts with gamma-tubulin and other centrosomal components to promote microtubule nucleation and anchoring. The protein is critical for maintaining centrosome integrity and proper cell division, especially during neurogenesis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CDK5RAP2 Knockout HEK293 Cell Line | EDJ-KQ12843 | Human | 55755 | Details Get a Quote |
| CDK5RAP2 Knockout A-549 Cell Line | EDJ-KQ41992 | Human | 55755 | Details Get a Quote |
| CDK5RAP2 Knockout HCT 116 Cell Line | EDJ-KQ41993 | Human | 55755 | Details Get a Quote |
| CDK5RAP2 Knockout HeLa Cell Line | EDJ-KQ41994 | Human | 55755 | Details Get a Quote |
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