CDK5RAP2 CDK5 regulatory subunit associated protein 2
Gene ID: 55755, updated on 11-Apr-2024Gene type: protein coding
Also known as: C48; MCPH3; Cep215
- See all available tests in GTR for this gene
- Go to complete Gene record for CDK5RAP2
- Go to Variation Viewer for CDK5RAP2 variants
Summary
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]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Genome-wide association of lipid-lowering response to statins in combined study populations. GeneReviews: Not available | |
| Microcephaly 3, primary, autosomal recessive | See labs |
| Novel risk loci for rheumatoid arthritis in Han Chinese and congruence with risk variants in Europeans. GeneReviews: Not available |
Genomic context
- Location:
- 9q33.2
- Sequence:
- Chromosome: 9; NC_000009.12 (120388875..120580167, complement)
- Total number of exons:
- 39
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for CDK5RAP2 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- CDK5RAP2 @ LOVD
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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