CDK5RAP2 Gene Summary [Human]
This gene encodes a regulator of CDK5 (cyclin-dependent kinase 5) activity. The protein encoded by this gene is localized to the centrosome and Golgi complex, interacts with CDK5R1 and pericentrin (PCNT), plays a role in centriole engagement and microtubule nucleation, and has been linked to primary microcephaly and Alzheimer's disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2013]
Details
| Type | Protein Coding |
| Official Symbol | CDK5RAP2 |
| Official Name | CDK5 regulatory subunit associated protein 2 [Source:HGNC Symbol;Acc:HGNC:18672] |
| Ensembl ID | ENSG00000136861 |
| Bio databases IDs | |
| Aliases | CDK5 regulatory subunit associated protein 2, centrosomin |
| Synonyms | 2900018K03Rik, AI449032, an, C48, CDK5 regulatory subunit associated protein 2, Cep215, LOC286919, MCPH3, mKIAA1633 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human CDK5RAP2 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Autophagy protein 16 (ATG16)
- protein kinase binding
- calmodulin binding
- Centrosomin N-terminal motif 1
- nucleic acid binding
- helix-rich Mycoplasma protein
- protein binding
- sequence-specific DNA binding
- gamma-tubulin binding
- microtubule binding
- binding protein
- tubulin binding
- double-stranded DNA binding
- Septation ring formation regulator, EzrA
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- neoplasia
- autosomal recessive primary microcephaly type 3
- hereditary disorder
- oral squamous cell carcinoma
- squamous cell cancer of the oral cavity
- urethral syndrome
- rheumatoid arthritis
- septic shock
- leukopenia
- myeloid/lymphoid neoplasm with eosinophilia
role in cell
- differentiation
- migration
- formation
- number
- organization
- nucleation
- sphere formation
- segregation
- replication
- orientation in
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- cell junction
- perinuclear region
- basal bodies
- centrosome
- Golgi Apparatus
- microtubules
- cytosol
- spindle pole
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human CDK5RAP2 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- centrosome cycle
- centriole replication
- regulation of mitotic cell cycle spindle assembly checkpoint
- negative regulation of centriole replication
- negative regulation of neuron differentiation
- chromosome segregation
- neurogenesis
- microtubule cytoskeleton organization
- brain development
- regulation of neuron differentiation
- establishment of mitotic spindle orientation
- microtubule bundle formation
- positive regulation of transcription, DNA-dependent
- microtubule organizing center organization
- positive regulation of microtubule polymerization
Cellular Component
Where in the cell the gene product is active
- microtubule plus end
- spindle pole
- gamma-tubulin large complex
- Golgi apparatus
- microtubule
- pericentriolar material
- centrosome
- perinuclear region of cytoplasm
- extracellular vesicular exosome
- cytoskeleton
- cytoplasm
- cytosol
- cell junction
Molecular Function
What the gene product does at the molecular level
- protein kinase binding
- tubulin binding
- calmodulin binding
- protein binding
- transcription regulatory region sequence-specific DNA binding
- gamma-tubulin binding
- microtubule binding