CDK5RAP2 Gene
protein-coding GIFtS: 59
GCID: GC09M123151
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CDK5 regulatory subunit associated protein 2(Previous names: microcephaly, primary autosomal recessive 3 )
(Previous symbol: MCPH3)
| |
Aliases
for CDK5RAP2 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| CDK5 Regulatory Subunit Associated Protein 21 2 | | KIAA16333 5 | | MCPH31 2 5 | | FLJ108671 | | C481 2 | | Microcephaly, Primary Autosomal Recessive 31 | | CEP2151 3 | | Cep2152 | | Centrosome-Associated Protein 2152 3 | | CDK5 Regulatory Subunit-Associated Protein 22 | | CDK5 Activator-Binding Protein C482 3 | | Centrosomal Protein 215 KDa2 |
Export aliases for CDK5RAP2 gene to outside databasesPrevious GC identifers: GC09M114255 GC09M114797 GC09M116604 GC09M118527 GC09M120230 GC09M122190 GC09M092769 |
Summaries
for CDK5RAP2 gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
|
Entrez Gene summary for CDK5RAP2:
This gene encodes a regulator of CDK5 (cyclin-dependent kinase 5) activity. The protein encoded by this gene islocalized to the centrosome and Golgi complex, interacts with CDK5R1 and pericentrin (PCNT), plays a role in centrioleengagement 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)
UniProtKB/Swiss-Prot: CK5P2_HUMAN, Q96SN8Function: Potential regulator of CDK5 activity via its interaction with CDK5R1. Negative regulator of centrioledisengagement (licensing) which maintains centriole engagement and cohesion. Involved in regulation of mitotic spindleorientation (By similarity). Plays a role in the spindle checkpoint activation by acting as a transcriptionalregulator of both BUBR1 and MAD2 promoter. Together with MAPRE1, it may promote microtubule polymerization, bundleformation, growth and dynamics at the plus ends
Gene Wiki entry for CDK5RAP2
|
Genomic Views
for CDK5RAP2 gene
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to
UCSC (hg19) and
Ensembl (release 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics)
About This Section
| RefSeq DNA sequence:- NC_000009.11 NC_018920.1 NT_008470.19
Regulatory elements:
 SABiosciences Regulatory transcription factor binding sites in the CDK5RAP2 gene promoter:
RP58 SREBP-1c AP-4 YY1 GATA-2 SREBP-1b MEF-2A AREB6 SREBP-1a aMEF-2
Other transcription factors
Search SABiosciences Chromatin IP Primers for CDK5RAP2
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CDK5RAP2 |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 9q33.2 Ensembl cytogenetic band: 9q33.2 HGNC cytogenetic band: 9q33.3CDK5RAP2 Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome 9 GeneLoc Exon Structure GeneLoc location for GC09M123151: view genomic region
(about GC identifiers)
Start:
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123,151,147 bp from pter |
End:
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123,342,448 bp from pter |
Size:
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191,302 bases |
Orientation:
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minus strand |
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Proteins
for CDK5RAP2 gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from
EMD Millipore,
R&D Systems,
GenScript,
Enzo Life Sciences,
OriGene,
Novus Biologicals,
Sino Biological,
ProSpec, and/or
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
About This Section
|
UniProtKB/Swiss-Prot: CK5P2_HUMAN, Q96SN8 (See
protein sequence)Recommended Name: CDK5 regulatory subunit-associated protein 2 Size: 1893 amino acids; 215038 Da
Subunit: Interacts with CDK5R1 (p35 form). CDK5RAP1, CDK5RAP2 and CDK5RAP3 show competitive binding to CDK5R1. Probablyforms a complex with CDK5R1 and CDK5 (By similarity). Interacts with PCNT; the interaction is leading to centrosomaland Golgi localization of CDK5RAP2 and PCNT. Interacts with AKAP9; the interaction is leading to Golgi localization ofCDK5RAP2 and AKAP9. Interacts with MAPRE1; the interaction is leading to microtubule attachment at plus ends ofCDK5RAP2 and MAPRE1. Interacts with TUBG1; the interaction is leading to the centrosomal localization of CDK5RAP2 andTUBG1. Interacts with TUBGCP3. Interacts with CALM1. Interacts with CDC20
Subcellular location: Cytoplasm, cytoskeleton, centrosome. Golgi apparatus. Cytoplasm. Note=Found in the pericentriolarregion adhering to the surface of the centrosome and in the region of the centrosomal appendages. Localizes tomicrotubule plus ends
Sequence caution: Sequence=AAH04526.2; Type=Erroneous initiation; Note=Translation N-terminally extended;Sequence=BAA91865.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=BAB13459.2;Type=Erroneous initiation; Note=Translation N-terminally shortened; Sequence=BAB15263.1; Type=Erroneous initiation;Note=Translation N-terminally extended; Sequence=BAB55253.1; Type=Erroneous initiation; Note=Translation N-terminallyextended; Sequence=CAD97663.1; Type=Erroneous termination; Positions=1205; Note=Translated as Gln;Sequence=CAD97828.1; Type=Frameshift; Positions=1831;
Secondary accessions: Q5JV18 Q7Z3L4 Q7Z3U1 Q7Z7I6 Q9BSW0 Q9H6J6 Q9HCD9 Q9NV90 Q9UIW9Alternative splicing: 4 isoforms: Q96SN8-1 Q96SN8-2 Q96SN8-3 Q96SN8-4 (No experimental confirmation available)Explore the universe of human proteins at neXtProt for CDK5RAP2: NX_Q96SN8
Post-translational modifications:
Phosphorylated in vitro by CDK5 (By similarity)1
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_Q96SN8
CDK5RAP2 Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins (3 alternative transcripts):
NP_001011649.1 NP_001258968.1 NP_060719.4
ENSEMBL proteins: ENSP00000343818 ENSP00000353317 ENSP00000418418 ENSP00000419265 ENSP00000400395 ENSP00000409941 ENSP00000419640 ENSP00000417925 ENSP00000354065 ENSP00000352258 Reactome Protein details: Q96SN8
Human Recombinant Protein Products:
Gene Ontology (GO): 5/10 cellular component terms (GO ID links to tree view) (see all 10): About this table
CDK5RAP2 for ontologies About GeneDecksing
CDK5RAP2 Antibody Products:
Assay Products for CDK5RAP2: |
Protein
Domains /
Families
for CDK5RAP2 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
CDK5RAP2 for domains About GeneDecksing
1 InterPro domain/family:Graphical View of Domain Structure for InterPro Entry Q96SN8ProtoNet protein and cluster: Q96SN8 1 Blocks protein family: IPB012943 Spindle associated
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Function
for CDK5RAP2 gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase
shRNA from
OriGene,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
Function Summary:
UniProtKB/Swiss-Prot: CK5P2_HUMAN, Q96SN8Function: Potential regulator of CDK5 activity via its interaction with CDK5R1. Negative regulator of centrioledisengagement (licensing) which maintains centriole engagement and cohesion. Involved in regulation of mitotic spindleorientation (By similarity). Plays a role in the spindle checkpoint activation by acting as a transcriptionalregulator of both BUBR1 and MAD2 promoter. Together with MAPRE1, it may promote microtubule polymerization, bundleformation, growth and dynamics at the plus ends
Clone
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OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for CDK5RAP2 (see all 3)
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
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In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CDK5RAP2 |
Gene Ontology (GO): 5/7 molecular function terms (GO ID links to tree view) (see all 7): About this table
CDK5RAP2 for ontologies About GeneDecksing
1 GenomeRNAi human phenotype for CDK5RAP2:
Animal Models:
12 MGI mutant phenotypes (inferred from 4 alleles ) (MGI details for Cdk5rap2):
CDK5RAP2 for phenotypes About GeneDecksing
|
Pathways & Interactions
for CDK5RAP2 gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
Reactome,
Tocris Bioscience,
GeneGo (Thomson Reuters),
QIAGEN,
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Interaction Networks according to
SABiosciences,
and/or STRING,
Interactions according to 1UniProtKB,
2MINT,
3I2D, and/or
4STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene).
About This Section
|
Unified GeneCards pathways About this table
See pathways by source
| Super-pathway | contained gene-specific pathways |
|---|
| 1 | Recruitment of mitotic centrosome proteins and complexes | | | 2 | Cell Cycle | |
Pathway sources
See GeneCards unified pathways
Show all pathways
5/8 
Reactome Pathways for CDK5RAP2 (see all 8)
CDK5RAP2 for pathways About GeneDecksing
Interactions:
Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for CDK5RAP2
STRING Interaction
Network Preview (showing 5 interactants - click image to see 25)
5/81 Interacting proteins for CDK5RAP2 (Q96SN82, 3 ENSP000003438184) via UniProtKB, MINT, STRING, and/or I2D (see all 81)About this table
Gene Ontology (GO): 5/14 biological process terms (GO ID links to tree view) (see all 14): About this table
CDK5RAP2 for ontologies About GeneDecksing
|
Drugs & Compounds
for CDK5RAP2 gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
 Browse Tocris compounds for CDK5RAP2
Search CenterWatch for drugs/clinical trials and news about CDK5RAP2 / CK5P2
|
Transcripts
for CDK5RAP2 gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
)
About This Section
|
REFSEQ mRNAs for CDK5RAP2 gene (3 alternative transcripts): NM_001011649.2 NM_001272039.1 NM_018249.5 Unigene Cluster for CDK5RAP2: CDK5 regulatory subunit associated protein 2 Hs.269560 [show with all ESTs]Unigene Representative Sequence: BX64089618/20 Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 20): ENST00000349780(uc004bkf.3 uc004bkg.3 uc011lxw.2 uc011lxx.2 uc011lxy.2 uc011lxz.2 uc011lya.2)
ENST00000360190 ENST00000495406 ENST00000480112 ENST00000474262 ENST00000473282
ENST00000416449 ENST00000484546 ENST00000480467 ENST00000433194 ENST00000425647
ENST00000483412(uc004bki.3) ENST00000468989 ENST00000479584 ENST00000482047
ENST00000472883 ENST00000481266 ENST00000491334
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for CDK5RAP2 (see all 3)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for CDK5RAP2 (see all 3)
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript: all cDNA clones in your preferred vector (see all 2): CDK5RAP2 (NM_018249) | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for CDK5RAP2 | | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CDK5RAP2 |
Additional cDNA sequence: AB046853.2 AF087969.1 AF448860.1 AK001729.1 AK025867.1 AK027636.1 AK122913.1 AL133161.1 AL833481.1 BC004526.2 BC019577.1 BC136275.1 BC143732.1 BC143734.1 BC143753.1 BC143755.1 BC143760.1 BC143762.1 BC143764.1 BC146782.1 BX537421.1 BX537708.1 BX537759.1 BX640896.1 CR936622.1 CR936717.1 21 DOTS entries: DT.114972 DT.101984247 DT.100784370 DT.95196261 DT.99975916 DT.97861924 DT.91878897 DT.91919917 DT.92049773 DT.100036932 DT.100784372 DT.100784378 DT.121171638 DT.121171647 DT.121171669 DT.121171698 DT.121171699 DT.40122823 DT.91744630 DT.75163883 DT.99977625 24/290 AceView cDNA sequences (see all 290): BQ922556 BX646329 AW070552 AW341062 AF448860 BC004526 AW139319 CA487242 BM932004 BQ231285 BU675132 BX340679 BM456780 AW504160 BM693774 BU838431 AK027636 AW263032 AL045394 BF059386 BF434360 CA315018 BI115985 AI699071
GeneLoc Exon Structure
5/10 Alternative Splicing Database (ASD) splice patterns (SP) for CDK5RAP2 (see all 10) About this scheme
| ExUns: | 1 | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10a | · | 10b | ^ | 11 | ^ | 12 | ^ | 13 | ^ | 14 | ^ | 15 | ^ | 16 | ^ | 17 | ^ | 18 | ^ | 19a | · | 19b | ^ | 20 | ^ | 21 | ^ | 22 | ^ | 23 | ^ | 24a | · |
|---|
|
| SP1: | | | | | | | | | | | | | | | | | | | | | - | | | | | | | | | | | | - | | - | | | | | | | | | | | | | | | | | | |
| SP2: | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | - | | - | | | | | | | | | | | | | | | | | | |
| SP3: | | | | | | | | | | | | | | | | | | | | | - | | | | | | | | | | | | - | | - | | | | | | | | | | - | | - | | - | | | | |
| SP4: | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | - | | | | | | | | |
| SP5: | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
| ExUns: | 24b | ^ | 25 | ^ | 26 | ^ | 27a | · | 27b | ^ | 28 | ^ | 29 | ^ | 30 | ^ | 31 | ^ | 32 | ^ | 33 | ^ | 34 | ^ | 35 | ^ | 36 | ^ | 37 | ^ | 38a | · | 38b | ^ | 39 | ^ | 40a | · | 40b | ^ | 41 | ^ | 42a | · | 42b |
|---|
|
| SP1: | | | | | - | | | | | | | | | | | | | | - | | | | | | | | | | | | - | | | | | | | | | | | | | | | | |
| SP2: | | | | | - | | | | | | | | | | | | | | - | | | | | | | | - | | | | - | | | | | | | | | | | | | | | | |
| SP3: | | | | | - | | | | | | | | | | | | | | - | | | | | | | | | | | | - | | | | | | | | | | | | | | | | |
| SP4: | | | | | - | | | | | | | | | | | | | | - | | | | | | | | | | | | - | | | | | | | | | | | | | | | | |
| SP5: | | | - | | - | | | | | | | | | | | | | | - | | | | | | | | | | | | - | | | | | | | | | | | | | | | |
ECgene alternative splicing isoforms for CDK5RAP2
|
Expression
for CDK5RAP2 gene
(RNA expression data according to
H-InvDB,
NONCODE,
miRBase, and
RNAdb,
Expression images according to data from
BioGPS,
Illumina Human BodyMap, and
CGAP
SAGE,
Sets of similar genes according to GeneDecks,
in vivo and in vitro expression data from LifeMap Discovery™,
plus additional links to
Genevestigator, and/or
SOURCE, and/or
BioGPS, and/or
UniProtKB,
PCR Arrays from
SABiosciences,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN,
In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section
| CDK5RAP2 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: CAGTCCCAGC
About this image
See CDK5RAP2 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for CDK5RAP2
SOURCE GeneReport for Unigene cluster: Hs.269560
UniProtKB/Swiss-Prot: CK5P2_HUMAN, Q96SN8Tissue specificity: Widely expressed. Expressed in heart, brain, placenta, lung, liver, skeletal muscle, kidney andpancreas
SABiosciences Expression via Pathway-Focused PCR Arrays including CDK5RAP2:
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for CDK5RAP2
Browse OriGene validated miRNA SYBR primer pairs
| | | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat CDK5RAP2 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat CDK5RAP2 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat CDK5RAP2 | In Situ
Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CDK5RAP2 |
Orthologs
for CDK5RAP2 gene
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
,
5MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase,
and/or
6Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam)
About This Section
|
This gene was present in the common ancestor of eukaryotes.
Orthologs for CDK5RAP2 gene from 8/22 species (see all 22) About this table
ENSEMBL Gene Tree for CDK5RAP2 (if available)
TreeFam Gene Tree for CDK5RAP2 (if available) |
Paralogs
for CDK5RAP2 gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| Paralogs for CDK5RAP2 gene
- PDE4DIP2
4 SIMAP similar genes for CDK5RAP2 using alignment to 11 protein entries: CK5P2_HUMAN (see all proteins):DKFZp686E2242 DKFZp686D1070 DKFZp686M1993 PDE4DIP
CDK5RAP2 for paralogs About GeneDecksing
|
Genomic Variants
for CDK5RAP2 gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, and
DNA2.0,
Linkage Disequilibrium by HapMap,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene
Mutation Database (HGMD) and the Locus Specific Mutation
Databases (LSDB), Blood group antigen gene mutations by BGMUT,
Resequencing Primers from QIAGEN,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical
significance | Chr 9 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for CDK5RAP2 (123151147 - 123342448 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 7 variations for CDK5RAP2
7 CNVs: 44374 96289 62948 7723 83177 100774 96288
Human Gene Mutation Database (HGMD): CDK5RAP2
| SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing CDK5RAP2 |
|
Disorders
/ Diseases
for CDK5RAP2 gene
(in which this Gene is Involved, According to MalaCards,
OMIM, UniProtKB,
the University of Copenhagen DISEASES
database, Novoseek,
Genatlas, GeneTests,
GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
CDK5RAP2 for disorders About GeneDecksing
OMIM gene information: 608201
OMIM disorders: 604804
UniProtKB/Swiss-Prot: CK5P2_HUMAN, Q96SN8
Defects in CDK5RAP2 are the cause of microcephaly primary type 3 (MCPH3) [MIM:604804]. A disorder defined as ahead circumference more than 3 standard deviations below the age-related mean. Brain weight is markedly reduced andthe cerebral cortex is disproportionately small. Despite this marked reduction in size, the gyral pattern isrelatively well preserved, with no major abnormality in cortical architecture. Primary microcephaly is further definedby the absence of other syndromic features or significant neurological deficits
7  diseases for CDK5RAP2: About MalaCardsmicrocephaly primary autosomal recessive microcephaly neuronitis intellectual disability
prostate cancer prostatitis leukemia
1 disease from the University of Copenhagen DISEASES database for CDK5RAP2:Microcephaly 1 Novoseek disease relationship for CDK5RAP2 gene About this table
| Disease |
-log (P-Val) |
Hits |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| microcephaly, primary |
95.4 |
2 |
16829198 (1), 17764569 (1) |
GeneTests: CDK5RAP2
Primary Autosomal Recessive Microcephaly
Human Genome Epidemiology (HuGE) Navigator: CDK5RAP2 (4 documents)
Export disorders for CDK5RAP2 gene to outside databases
|
Publications
for CDK5RAP2 gene (in
PubMed.
Associations of this gene to articles via
1Entrez Gene,
2UniProtKB/Swiss-Prot,
3HGNC,
4GAD,
5PharmGKB,
6HMDB,
7DrugBank,
8UniProtKB/TrEMBL,
9 Novoseek, and/or
10fRNAdb)
About This Section
|
PubMed articles for CDK5RAP2 gene, integrated from 9 sources (see all 55):
(articles sorted by number of sources associating them with CDK5RAP2) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- Cloning of three novel neuronal Cdk5 activator binding proteins. (PubMed id 10721722)1, 2, 3, 9 Ching Y.-P.... Wang J.H. (2000)
- Cep68 and Cep215 (Cdk5rap2) are required for centrosome cohesion. (PubMed id 18042621)1, 2, 9 Graser S....Nigg E.A. (2007)
- Previously described sequence variant in CDK5RAP2 gene in a Pakistani family with autosomal recessive primary microcephaly. (PubMed id 17764569)1, 3, 9 Hassan M.J....Ahmad W. (2007)
- A centrosomal mechanism involving CDK5RAP2 and CENPJ controls brain size. (PubMed id 15793586)1, 2, 9 Bond J.... Woods C.G. (2005)
- Conserved motif of CDK5RAP2 mediates its localization to centrosomes and the Golgi complex. (PubMed id 20466722)1, 2 Wang Z....Qi R.Z. (2010)
- Interaction of CDK5RAP2 with EB1 to track growing mic rotubule tips and to regulate microtubule dynamics. (PubMed id 19553473)1, 2 Fong K.W....Qi R.Z. (2009)
- CDK5RAP2 is required for spindle checkpoint function. (PubMed id 19282672)1, 2 Zhang X....Xu X. (2009)
- CDK5RAP2 is a pericentriolar protein that functions in centrosomal attachment of the gamma-tubulin ring complex. (PubMed id 17959831)1, 2 Fong K.W....Qi R.Z. (2008)
- Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
- DNA sequence and analysis of human chromosome 9. (PubMed id 15164053)1, 2 Humphray S.J.... Dunham I. (2004)
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External Searches for CDK5RAP2 gene
(in PubMed,
OMIM, and NCBI Bookshelf)
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Genome Databases showing CDK5RAP2 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
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Other Databases showing CDK5RAP2 gene
(According to HUGE)
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Specialized Databases showing CDK5RAP2 gene(According to PharmGKB,
ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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| Name | Description |
| PharmGKB entry for CDK5RAP2 | Pharmacogenomics, SNPs, Pathways |
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| Patent Information for CDK5RAP2 gene:
Search GeneIP for patents involving CDK5RAP2
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
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Products
for CDK5RAP2 gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences),
In Situ Hybridization Assays from
Advanced Cell Diagnostics
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| | |  | Browse OriGene Antibodies | | OriGene shRNA RFP for CDK5RAP2 | | | OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for CDK5RAP2 | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for CDK5RAP2 | | | Browse OriGene Protein Over-expression Lysates | | Browse OriGene Fluorogenic Cell Assay Kits | | | OriGene siRNA for CDK5RAP2 | | OriGene 3'-UTR Clone for CDK5RAP2 | | | OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for CDK5RAP2 | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for CDK5RAP2 | | | Browse OriGene GFP tagged cDNA clones in CMV expression vector | | Browse OriGene MicroRNA Expression Plasmids | | | Browse OriGene basic RS shRNAs | | Browse OriGene validated miRNA SYBR primer pairs | | | Browse OriGene full length recombinant human proteins expressed in human HEK293 cells | | OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling | | | OriGene Custom Antibody Services for CDK5RAP2 | | OriGene Custom Protein Services for CDK5RAP2 | | | OriGene Custom Immunoassay Development | | |
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| | | QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat CDK5RAP2 | | | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing CDK5RAP2 | | | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CDK5RAP2 | | | QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat CDK5RAP2 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat CDK5RAP2 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat CDK5RAP2 |
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 | | | CDK5RAP2 Proteins, Antibodies, CLIAs, and ELISAs |
| | | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CDK5RAP2 |
|  |  |  | | | | Search ThermoFisher Antibodies for CDK5RAP2 |
| | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CDK5RAP2 |
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