CDK5RAP2

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CDK5 regulatory subunit associated protein 2
Identifiers
Symbols CDK5RAP2 ; C48; Cep215; MCPH3
External IDs OMIM608201 MGI2384875 HomoloGene49533 GeneCards: CDK5RAP2 Gene
RNA expression pattern
PBB GE CDK5RAP2 220935 s at tn.png
PBB GE CDK5RAP2 gnf1h09333 s at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 55755 214444
Ensembl ENSG00000136861 ENSMUSG00000039298
UniProt Q96SN8 Q8K389
RefSeq (mRNA) NM_001011649 NM_145990
RefSeq (protein) NP_001011649 NP_666102
Location (UCSC) Chr 9:
123.15 – 123.34 Mb
Chr 4:
70.22 – 70.41 Mb
PubMed search [1] [2]

CDK5 regulatory subunit-associated protein 2 is a protein that in humans is encoded by the CDK5RAP2 gene. Multiple transcript variants exist for this gene, but the full-length nature of only two has been determined.[1][2] CDK5RAP2 is homologous to the Drosophila protein centrosomin (cnn).[3]

Function[edit]

Neuronal CDC2-like kinase, which is involved in the regulation of neuronal differentiation, is composed of a catalytic subunit, CDK5, and an activating subunit, p25NCK5A. The protein encoded by this gene binds to p25NCK5A and therefore may be involved in neuronal differentiation. The encoded protein may also be a substrate of neuronal CDC2-like kinase.[2]

Clinical significance[edit]

A magnetic resonance imaging study has demonstrated a link between common variation in the CDK5RAP2 gene and brain structure.[4] More specifically, associations were found between several single nucleotide polymorphisms (SNPs) and brain cortical surface area and total brain volume. These associations were found exclusively in male subjects and all SNPs were located upstream in non-exonic regions. The functional significance of these loci is not yet known. However, given their location close to regulatory elements, it is possible that they are involved in gene regulation, which suggests that common variance in brain structure could be associated with differences in gene regulation rather than protein structure, consistent with findings in other complex human traits.

Interactions[edit]

CDK5RAP2 has been shown to interact with CDK5R1.[5]

References[edit]

  1. ^ Ching YP, Qi Z, Wang JH (April 2000). "Cloning of three novel neuronal Cdk5 activator binding proteins". Gene 242 (1-2): 285–94. doi:10.1016/S0378-1119(99)00499-0. PMID 10721722. 
  2. ^ a b "Entrez Gene: CDK5RAP2 CDK5 regulatory subunit associated protein 2". 
  3. ^ Barr, A. R.; Kilmartin, J. V.; Gergely, F. (5 April 2010). "CDK5RAP2 functions in centrosome to spindle pole attachment and DNA damage response". The Journal of Cell Biology 189 (1): 23–39. doi:10.1083/jcb.200912163. PMID 20368616. 
  4. ^ Rimol LM, Agartz I, Djurovic S, Brown AA, Roddey JC, Kähler AK, Mattingsdal M, Athanasiu L, Joyner AH, Schork NJ, Halgren E, Sundet K, Melle I, Dale AM, Andreassen OA (January 2010). "Sex-dependent association of common variants of microcephaly genes with brain structure". Proc. Natl. Acad. Sci. U.S.A. 107 (1): 384–8. doi:10.1073/pnas.0908454107. PMC 2806758. PMID 20080800. 
  5. ^ Wang X, Ching YP, Lam WH, Qi Z, Zhang M, Wang JH (October 2000). "Identification of a common protein association region in the neuronal Cdk5 activator". J. Biol. Chem. 275 (41): 31763–9. doi:10.1074/jbc.M004358200. PMID 10915792. 

Further reading[edit]