Property Summary

NCBI Gene PubMed Count 49
PubMed Score 48.15
PubTator Score 92.46

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (5)

Disease log2 FC p
osteosarcoma -2.188 2.3e-05
acute quadriplegic myopathy 1.234 3.2e-06
intraductal papillary-mucinous neoplasm ... 1.600 1.2e-02
group 3 medulloblastoma 1.300 2.1e-03
ovarian cancer 2.700 1.3e-07

 GWAS Trait (1)

Gene RIF (24)

PMID Text
26987684 stabilization of the centrosome-spindle pole interface by the CEP215-HSET complex could promote survival of cancer cells containing supernumerary centrosomes.
26550838 mouse expresses only one form of CDK5RAP2 that is equivalent to the human and rat alternatively spliced variant forms
26485573 These results show that Cep169 targets microtubule tips and regulates stability of microtubules with CDK5RAP2.
26192437 LRRK1 regulates mitotic spindle orientation downstream of PLK1 through CDK5RAP2-dependent centrosome maturation.
25503564 Cep68 degradation allows Cep215 removal from peripheral pericentriolar material (PCM) preventing centriole separation following disengagement, PCNT cleavage mediates Cep215 removal from core of the PCM to inhibit centriole disengagement and duplication
24782177 DPP4, CDK5RAP2, and CCR6 are risk loci for rheumatoid arthritis in Han Chinese and congruence with risk variants in Europeans.
24466316 The CEP215-pericentrin interaction is required for centrosome maturation and subsequent bipolar spindle formation during mitosis.
23874654 results reveal a key role of the dynein-dynactin complex in the dynamic recruitment of CDK5RAP2 to centrosomes
23587236 Sequencing of the coding exons and exon/intron splice junctions of the CDK5RAP2 gene identified homozygosity for the novel nonsense mutation, c.4441C > T (p.Arg1481*), in both affected sons
22806269 Human expression pattern of CDK5RAP2 is similar to that seen in mice and is in concordance with pathology suggested by neuroimaging studies in humans and mouse
21512315 The deletion of the C-terminal structural maintenance of chromosome (SMC) domain and the p35-binding domain in both patient pedigrees 1 and 2 CDK5RAP2 is sufficient for the development of MCPH3-associated primary microcephaly.
21346412 A report of an novel alternatively spliced variant form of hCDK5RAP2, hCDK5RAP2 variant 1 (hCDK5RAP2-V1) which lacks the 237 nucleotide residues of hCDK5RAP2 exon 32.
21297427 We conclude that the common variations we measured in the 4 microcephaly genes, ASPM, MCPH1, CDK5RAP2, and CENPJ, do not affect the risk of Alzheimer disease
20466722 CDK5RAP2 may represent a novel mechanism for centrosomal and Golgi localization.
20201926 Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
20200978 Observational study of gene-disease association. (HuGE Navigator)
20139723 CEP 215 regulates a dynein-dependent transport of the pericentriolar matrix proteins during the centrosome maturation.
20080800 Observational study of gene-disease association. (HuGE Navigator)
19553473 Results show that CDK5RAP2 targets growing microtubule tips in association with EB1 to regulate microtubule dynamics.
19282672 CDK5RAP2 is required for spindle checkpoint function.
18042621 Cep215 associates with centrosomes throughout the cell cycle and does not appear to interact with Cep68, rootletin or C-Nap1; data suggest Cep215 functionally interacts with pericentrin
17959831 Centrosome malfunction due to the CDK5RAP2 mutations may underlie autosomal recessive primary microcephaly.
16631324 pattern of molecular evolution seen in CDK5RAP2 appears to parallel, at least approximately, that seen in two other previously identified primary microcephaly genes, microcephalin and ASPM
15793586 Mutations in CDK5RAP2 gene is associated with autosomal recessive primary microcephaly

AA Sequence

MMDLVLEEDVTVPGTLSGCSGLVPSVPDDLDGINPNAGLGNGLLPNVSEETVSPTRARNMKDFENQITEL      1 - 70
KKENFNLKLRIYFLEERMQQEFHGPTEHIYKTNIELKVEVESLKRELQEREQLLIKASKAVESLAEAGGS     71 - 140
EIQRVKEDARKKVQQVEDLLTKRILLLEKDVTAAQAELEKAFAGTETEKALRLRLESKLSEMKKMHEGDL    141 - 210
AMALVLDEKDRLIEELKLSLKSKEALIQCLKEEKSQMACPDENVSSGELRGLCAAPREEKERETEAAQME    211 - 280
HQKERNSFEERIQALEEDLREKEREIATEKKNSLKRDKAIQGLTMALKSKEKKVEELNSEIEKLSAAFAK    281 - 350
AREALQKAQTQEFQGSEDYETALSGKEALSAALRSQNLTKSTENHRLRRSIKKITQELSDLQQERERLEK    351 - 420
DLEEAHREKSKGDCTIRDLRNEVEKLRNEVNEREKAMENRYKSLLSESNKKLHNQEQVIKHLTESTNQKD    421 - 490
VLLQKFNEKDLEVIQQNCYLMAAEDLELRSEGLITEKCSSQQPPGSKTIFSKEKKQSSDYEELIQVLKKE    491 - 560
QDIYTHLVKSLQESDSINNLQAELNKIFALRKQLEQDVLSYQNLRKTLEEQISEIRRREEESFSLYSDQT    561 - 630
SYLSICLEENNRFQVEHFSQEELKKKVSDLIQLVKELYTDNQHLKKTIFDLSCMGFQGNGFPDRLASTEQ    631 - 700
TELLASKEDEDTIKIGEDDEINFLSDQHLQQSNEIMKDLSKGGCKNGYLRHTESKISDCDGAHAPGCLEE    701 - 770
GAFINLLAPLFNEKATLLLESRPDLLKVVRELLLGQLFLTEQEVSGEHLDGKTEKTPKQKGELVHFVQTN    771 - 840
SFSKPHDELKLSCEAQLVKAGEVPKVGLKDASVQTVATEGDLLRFKHEATREAWEEKPINTALSAEHRPE    841 - 910
NLHGVPGWQAALLSLPGITNREAKKSRLPILIKPSRSLGNMYRLPATQEVVTQLQSQILELQGELKEFKT    911 - 980
CNKQLHQKLILAEAVMEGRPTPDKTLLNAQPPVGAAYQDSPGEQKGIKTTSSVWRDKEMDSDQQRSYEID    981 - 1050
SEICPPDDLASLPSCKENPEDVLSPTSVATYLSSKSQPSAKVSVMGTDQSESINTSNETEYLKQKIHDLE   1051 - 1120
TELEGYQNFIFQLQKHSQCSEAIITVLCGTEGAQDGLSKPKNGSDGEEMTFSSLHQVRYVKHVKILGPLA   1121 - 1190
PEMIDSRVLENLKQQLEEQEYKLQKEQNLNMQLFSEIHNLQNKFRDLSPPRYDSLVQSQARELSLQRQQI   1191 - 1260
KDGHGICVISRQHMNTMIKAFEELLQASDVDYCVAEGFQEQLNQCAELLEKLEKLFLNGKSVGVEMNTQN   1261 - 1330
ELMERIEEDNLTYQHLLPESPEPSASHALSDYETSEKSFFSRDQKQDNETEKTSVMVNSFSQDLLMEHIQ   1331 - 1400
EIRTLRKRLEESIKTNEKLRKQLERQGSEFVQGSTSIFASGSELHSSLTSEIHFLRKQNQALNAMLIKGS   1401 - 1470
RDKQKENDKLRESLSRKTVSLEHLQREYASVKEENERLQKEGSEKERHNQQLIQEVRCSGQELSRVQEEV   1471 - 1540
KLRQQLLSQNDKLLQSLRVELKAYEKLDEEHRRLREASGEGWKGQDPFRDLHSLLMEIQALRLQLERSIE   1541 - 1610
TSSTLQSRLKEQLARGAEKAQEGALTLAVQAVSIPEVPLQPDKHDGDKYPMESDNSFDLFDSSQAVTPKS   1611 - 1680
VSETPPLSGNDTDSLSCDSGSSATSTPCVSRLVTGHHLWASKNGRHVLGLIEDYEALLKQISQGQRLLAE   1681 - 1750
MDIQTQEAPSSTSQELGTKGPHPAPLSKFVSSVSTAKLTLEEAYRRLKLLWRVSLPEDGQCPLHCEQIGE   1751 - 1820
MKAEVTKLHKKLFEQEKKLQNTMKLLQLSKRQEKVIFDQLVVTHKILRKARGNLELRPGGAHPGTCSPSR   1821 - 1890
PGS                                                                      1891 - 1893
//

Text Mined References (55)

PMID Year Title
26987684 2016 A CEP215-HSET complex links centrosomes with spindle poles and drives centrosome clustering in cancer.
26550838 2015 Species-Specific Expression of Full-Length and Alternatively Spliced Variant Forms of CDK5RAP2.
26485573 2015 Cep169, a Novel Microtubule Plus-End-Tracking Centrosomal Protein, Binds to CDK5RAP2 and Regulates Microtubule Stability.
26482847 2015 Microtubule-bundling activity of the centrosomal protein, Cep169, and its binding to microtubules.
26297806 2015 Centriolar satellites assemble centrosomal microcephaly proteins to recruit CDK2 and promote centriole duplication.
26192437 2015 PLK1-dependent activation of LRRK1 regulates spindle orientation by phosphorylating CDK5RAP2.
25503564 2015 Degradation of Cep68 and PCNT cleavage mediate Cep215 removal from the PCM to allow centriole separation, disengagement and licensing.
24782177 2014 Novel risk loci for rheumatoid arthritis in Han Chinese and congruence with risk variants in Europeans.
24466316 2014 Importance of the CEP215-pericentrin interaction for centrosome maturation during mitosis.
23874654 2013 Dynamic recruitment of CDK5RAP2 to centrosomes requires its association with dynein.
23587236 2013 Clinical and cellular features in patients with primary autosomal recessive microcephaly and a novel CDK5RAP2 mutation.
23376485 2013 Proteomic analysis of podocyte exosome-enriched fraction from normal human urine.
23186163 2013 Toward a comprehensive characterization of a human cancer cell phosphoproteome.
22806269 2013 CDK5RAP2 expression during murine and human brain development correlates with pathology in primary autosomal recessive microcephaly.
21512315 2011 Primary microcephaly 3 (MCPH3): revisiting two critical mutations.
21399614 2011 Novel asymmetrically localizing components of human centrosomes identified by complementary proteomics methods.
21346412 2011 Novel alternatively spliced variant form of human CDK5RAP2.
21297427 Microcephaly genes and risk of late-onset Alzheimer disease.
21269460 2011 Initial characterization of the human central proteome.
20466722 2010 Conserved motif of CDK5RAP2 mediates its localization to centrosomes and the Golgi complex.
20339536 2010 Genome-wide association of lipid-lowering response to statins in combined study populations.
20201926 2010 Human variation in alcohol response is influenced by variation in neuronal signaling genes.
20200978 2010 Replication of previous genome-wide association studies of bone mineral density in premenopausal American women.
20139723 2010 CEP215 is involved in the dynein-dependent accumulation of pericentriolar matrix proteins for spindle pole formation.
20080800 2010 Sex-dependent association of common variants of microcephaly genes with brain structure.
20068231 2010 Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.
19690332 2009 Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions.
19553473 2009 Interaction of CDK5RAP2 with EB1 to track growing microtubule tips and to regulate microtubule dynamics.
19543530 2009 Plk1-dependent recruitment of gamma-tubulin complexes to mitotic centrosomes involves multiple PCM components.
19282672 2009 CDK5RAP2 is required for spindle checkpoint function.
19056867 2009 Large-scale proteomics and phosphoproteomics of urinary exosomes.
18669648 2008 A quantitative atlas of mitotic phosphorylation.
18042621 2007 Cep68 and Cep215 (Cdk5rap2) are required for centrosome cohesion.
18029348 2008 Toward a confocal subcellular atlas of the human proteome.
17974005 2007 The full-ORF clone resource of the German cDNA Consortium.
17959831 2008 CDK5RAP2 is a pericentriolar protein that functions in centrosomal attachment of the gamma-tubulin ring complex.
17764569 2007 Previously described sequence variant in CDK5RAP2 gene in a Pakistani family with autosomal recessive primary microcephaly.
17081983 2006 Global, in vivo, and site-specific phosphorylation dynamics in signaling networks.
16631324 2006 Molecular evolution of the brain size regulator genes CDK5RAP2 and CENPJ.
16565220 2006 Phosphoproteome analysis of the human mitotic spindle.
16462731 2006 The PITSLRE/CDK11p58 protein kinase promotes centrosome maturation and bipolar spindle formation.
15793586 2005 A centrosomal mechanism involving CDK5RAP2 and CENPJ controls brain size.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15164053 2004 DNA sequence and analysis of human chromosome 9.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
14654843 2003 Proteomic characterization of the human centrosome by protein correlation profiling.
12852856 2003 Polo-like kinase 1 regulates Nlp, a centrosome protein involved in microtubule nucleation.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12221128 2002 Centrosomal proteins CG-NAP and kendrin provide microtubule nucleation sites by anchoring gamma-tubulin ring complex.
11076968 2000 The centrosomal protein C-Nap1 is required for cell cycle-regulated centrosome cohesion.
10997877 2000 Prediction of the coding sequences of unidentified human genes. XVIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro.
10915792 2000 Identification of a common protein association region in the neuronal Cdk5 activator.
10721722 2000 Cloning of three novel neuronal Cdk5 activator binding proteins.
10677332 2000 A third novel locus for primary autosomal recessive microcephaly maps to chromosome 9q34.
7790358 1995 Cell cycle regulation of the activity and subcellular localization of Plk1, a human protein kinase implicated in mitotic spindle function.