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CDK5RAP2 Gene

protein-coding   GIFtS: 62
GCID: GC09M123151

CDK5 Regulatory Subunit Associated Protein 2

(Previous names: microcephaly, primary autosomal recessive 3)
(Previous symbol: MCPH3)
  See CDK5RAP2-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
CDK5 Regulatory Subunit Associated Protein 21 2     C482
MCPH31 2 5     Cep2152
centrosomin1 2     CDK5 Regulatory Subunit-Associated Protein 22
CDK5 Activator-Binding Protein C482 3     Centrosomal Protein 215 KDa2
KIAA16333 5     CEP2153
Microcephaly, Primary Autosomal Recessive 31     Centrosome-Associated Protein 2153

External Ids:    HGNC: 186721   Entrez Gene: 557552   Ensembl: ENSG000001368617   OMIM: 6082015   UniProtKB: Q96SN83   

Export aliases for CDK5RAP2 gene to outside databases

Previous GC identifers: GC09M114255 GC09M114797 GC09M116604 GC09M118527 GC09M120230 GC09M122190 GC09M092769


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for CDK5RAP2 Gene:
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)

GeneCards Summary for CDK5RAP2 Gene:
CDK5RAP2 (CDK5 regulatory subunit associated protein 2) is a protein-coding gene. Diseases associated with CDK5RAP2 include primary autosomal recessive microcephaly type 3, and primary autosomal recessive microcephaly type 1. GO annotations related to this gene include protein kinase binding and transcription regulatory region DNA binding. An important paralog of this gene is PDE4DIP.

UniProtKB/Swiss-Prot: CK5P2_HUMAN, Q96SN8
Function: Potential regulator of CDK5 activity via its interaction with CDK5R1. Negative regulator of centriole
disengagement (licensing) which maintains centriole engagement and cohesion. Involved in regulation of mitotic
spindle orientation (By similarity). Plays a role in the spindle checkpoint activation by acting as a
transcriptional regulator of both BUBR1 and MAD2 promoter. Together with MAPRE1, it may promote microtubule
polymerization, bundle formation, growth and dynamics at the plus ends

Gene Wiki entry 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000009.11  NT_008470.20  NC_018920.2  
Regulatory elements:
   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

SwitchGear Promoter luciferase reporter plasmidCDK5RAP2 promoter sequence
   Search Chromatin IP Primers for CDK5RAP2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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: 9q33.3

CDK5RAP2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CDK5RAP2 gene location

GeneLoc information about chromosome 9         GeneLoc Exon Structure

GeneLoc location for GC09M123151:  view genomic region     (about GC identifiers)

Start:
123,151,147 bp from pter      End:
123,342,448 bp from pter
Size:
191,302 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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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.
Probably forms a complex with CDK5R1 and CDK5 (By similarity). Interacts with PCNT; the interaction is leading to
centrosomal and Golgi localization of CDK5RAP2 and PCNT. Interacts with AKAP9; the interaction is leading to
Golgi localization of CDK5RAP2 and AKAP9. Interacts with MAPRE1; the interaction is leading to microtubule
attachment at plus ends of CDK5RAP2 and MAPRE1. Interacts with TUBG1; the interaction is leading to the
centrosomal localization of CDK5RAP2 and TUBG1. Interacts with TUBGCP3. Interacts with CALM1. Interacts with
CDC20
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-terminally extended; 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 Q9UIW9
Alternative 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

Explore proteomics data for CDK5RAP2 at MOPED

Post-translational modifications: 

  • Phosphorylated in vitro by CDK5 (By similarity)1
  • Ubiquitination2 at Lys489, Lys495, Lys592, Lys797, Lys1184, Lys1215, Lys1233, Lys1320
  • Modification sites at PhosphoSitePlus

  • See CDK5RAP2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_001011649.1  NP_001258968.1  NP_060719.4  

    ENSEMBL proteins: 
     ENSP00000343818   ENSP00000353317   ENSP00000419265   ENSP00000418418   ENSP00000400395  
     ENSP00000409941   ENSP00000419640   ENSP00000417925   ENSP00000354065   ENSP00000352258  
    Reactome Protein details: Q96SN8

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    1 InterPro protein domain:
     IPR012943 Spindle_assoc

    Graphical View of Domain Structure for InterPro Entry Q96SN8

    ProtoNet protein and cluster: Q96SN8

    1 Blocks protein domain: IPB012943 Spindle associated


    Find genes that share domains with CDK5RAP2           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: CK5P2_HUMAN, Q96SN8
    Function: Potential regulator of CDK5 activity via its interaction with CDK5R1. Negative regulator of centriole
    disengagement (licensing) which maintains centriole engagement and cohesion. Involved in regulation of mitotic
    spindle orientation (By similarity). Plays a role in the spindle checkpoint activation by acting as a
    transcriptional regulator of both BUBR1 and MAD2 promoter. Together with MAPRE1, it may promote microtubule
    polymerization, bundle formation, growth and dynamics at the plus ends

         Gene Ontology (GO): Selected molecular function terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI17959831
    GO:0005516calmodulin binding IPI--
    GO:0008017microtubule binding IDA14654843
    GO:0015631tubulin binding IPI17959831
    GO:0019901protein kinase binding IPI10721722
         
    Find genes that share ontologies with CDK5RAP2           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for CDK5RAP2:
     Decreased Hepatitis C virus re 

         12 MGI mutant phenotypes (inferred from 4 alleles(MGI details for Cdk5rap2):
     cellular  craniofacial  growth/size/body  hematopoietic system  immune system 
     integument  mortality/aging  nervous system  reproductive system  skeleton 
     tumorigenesis  vision/eye 

    Find genes that share phenotypes with CDK5RAP2           About GenesLikeMe

    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for CDK5RAP2

    miRNA
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    miRTarBase miRNAs that target CDK5RAP2:
    hsa-mir-324-3p (MIRT042896), hsa-mir-1301-3p (MIRT035984), hsa-mir-149-5p (MIRT045392)

    Block miRNA regulation of human, mouse, rat CDK5RAP2 using miScript Target Protectors
    1 qRT-PCR Assays for microRNA that regulate CDK5RAP2:
    hsa-miR-647
    SwitchGear 3'UTR luciferase reporter plasmidCDK5RAP2 3' UTR sequence
    Inhib. RNA
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    CK5P2_HUMAN, Q96SN8: Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Golgi apparatus.
    Cytoplasm. Note=Found in the pericentriolar region adhering to the surface of the centrosome and in the region of
    the centrosomal appendages. Localizes to microtubule plus ends
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytoskeleton5
    golgi apparatus5
    cytosol4
    nucleus3

    Gene Ontology (GO): Selected cellular component terms (see all 11):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000242pericentriolar material IDA17959831
    GO:0000922spindle pole IDA17959831
    GO:0005737cytoplasm IDA17959831
    GO:0005794Golgi apparatus IDA--
    GO:0005813centrosome IDA--

    Find genes that share ontologies with CDK5RAP2           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, 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 Apr 2014 via Entrez Gene).
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    SuperPaths for CDK5RAP2 About    
    See pathways by source

    SuperPathContained pathways About
    1Regulation of PLK1 Activity at G2/M Transition
    Recruitment of mitotic centrosome proteins and complexes0.86
    Regulation of PLK1 Activity at G2/M Transition0.77
    Loss of Nlp from mitotic centrosomes0.86
    G2/M Transition0.70
    Centrosome maturation0.86
    Mitotic G2-G2/M phases0.69
    Loss of proteins required for interphase microtubule organizationfrom the centrosome0.86
    2Cell Cycle, Mitotic
    Cell Cycle, Mitotic0.90
    Cell Cycle0.90


    Find genes that share SuperPaths with CDK5RAP2           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    4 Reactome Pathways for CDK5RAP2
        Recruitment of mitotic centrosome proteins and complexes
    Loss of proteins required for interphase microtubule organization,from the centrosome
    Regulation of PLK1 Activity at G2/M Transition
    Loss of Nlp from mitotic centrosomes


        Pathway & Disease-focused RT2 Profiler PCR Arrays including CDK5RAP2: 
              Neurogenesis in human mouse rat
              Primary Cilia in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for CDK5RAP2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for CDK5RAP2 (Q96SN82, 3 ENSP000003438184) via UniProtKB, MINT, STRING, and/or I2D (see all 81)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    C7orf55-LUC7L2Q9Y3832, 3MINT-65262 I2D: score=5 
    LUC7L2Q9Y3832, 3MINT-65262 I2D: score=5 
    STARD9Q9P2P62, 3, ENSP000002906074MINT-65260 I2D: score=4 STRING: ENSP00000290607
    C14orf1Q9UKR52, 3MINT-65261 I2D: score=5 
    CRMP1Q141942, 3MINT-65255 I2D: score=5 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 14):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000086G2/M transition of mitotic cell cycle TAS--
    GO:0000132establishment of mitotic spindle orientation ISS--
    GO:0000226microtubule cytoskeleton organization IDA17959831
    GO:0000278mitotic cell cycle TAS--
    GO:0001578microtubule bundle formation IDA19553473

    Find genes that share ontologies with CDK5RAP2           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
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    Browse Tocris compounds for CDK5RAP2 (CK5P2)



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    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: NR_073556
    Selected 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 ENST00000474262 ENST00000473282 ENST00000480112
    ENST00000416449 ENST00000433194 ENST00000480467 ENST00000484546 ENST00000425647
    ENST00000483412(uc004bki.3) ENST00000468989 ENST00000479584 ENST00000482047
    ENST00000472883 ENST00000481266 ENST00000491334
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    Additional mRNA 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 NR_073554.1 NR_073555.1 NR_073556.1 NR_073557.1 NR_073558.1 

    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 

    Selected AceView cDNA sequences (see all 290):

    BF059386 BM695544 BX646329 BQ231285 BX092427 AA962117 BX093750 BM835353 
    BM932004 BX340679 AI492935 AK025867 AW139319 AA412608 AI424392 BU580453 
    AK122913 AI074999 AI377836 CA487242 AW341062 BF448036 AL133161 CA315018 

    GeneLoc Exon Structure

    Selected 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

    (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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

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    CDK5RAP2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CAGTCCCAGC
    CDK5RAP2 Expression
    About this image

    CDK5RAP2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    CDK5RAP2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.269560

    UniProtKB/Swiss-Prot: CK5P2_HUMAN, Q96SN8
    Tissue specificity: Widely expressed. Expressed in heart, brain, placenta, lung, liver, skeletal muscle, kidney
    and pancreas

        Pathway & Disease-focused RT2 Profiler PCR Arrays including CDK5RAP2: 
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    (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)
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    This gene was present in the common ancestor of chordates.

    Orthologs for CDK5RAP2 gene from Selected species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Cdk5rap21 , 5 CDK5 regulatory subunit associated protein 21, 5 79.15(n)1
    71.11(a)1
      4 (35.92 cM)5
    2144441  NM_145990.31  NP_666102.21 
     702168565 
    chicken
    (Gallus gallus)
    Aves CDK5RAP21 CDK5 regulatory subunit associated protein 2 59.33(n)
    49(a)
      771445  XM_001234725.3  XP_001234726.3 
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    Uncharacterized protein
    42(a)
    38(a)
    many → 1
    many → 1
    GL343719.1(335941-337944)
    GL343398.1(642617-741003)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.198412 Xenopus laevis transcribed sequence with weak similarity more 73.95(n)    BQ399804.1 
    zebrafish
    (Danio rerio)
    Actinopterygii wufi74c052 wufi74c05 75.07(n)   334460  BC046878.1 


    ENSEMBL Gene Tree for CDK5RAP2 (if available)
    TreeFam Gene Tree for CDK5RAP2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    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

    Find genes that share paralogs with CDK5RAP2           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, 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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for CDK5RAP2 (see all 3495)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 9 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs359090611,2
    C,Fnon-pathogenic1123182876(+) AGAGAC/ATGCAA 13 /Q /H mis12Minor allele frequency- A:0.01NA 4630
    rs48377681,2,,4
    C,F,A,Hnon-pathogenic1123182923(+) CTTCAC/GCTCCT 13 L V nc-transcript-variantmis124Minor allele frequency- N:0.00MN EA NA NS WA CSA EU 7119
    rs32105001,2
    Cnon-pathogenic1123183652(-) GAAGGA/GGAGAC 13 E G nc-transcript-variantmis1 trp31Minor allele frequency- G:0.00MN 184
    rs413093421,2
    Cnon-pathogenic1123194326(+) AGAAGA/GACTTT 13 S F mis10--------
    rs78752941,2,,4
    C,A,Hnon-pathogenic1123197172(+) GTTCAT/ATCTGG 13 /N /I nc-transcript-variantmis16Minor allele frequency- A:0.00NS EA NA 422
    rs37806791,2,,4
    C,F,Hnon-pathogenic1123218098(+) AGCTTC/GTTTGC 13 T R nc-transcript-variantmis131Minor allele frequency- G:0.08NA NS EA WA CSA EU 8539
    rs345234981,2
    C,Fnon-pathogenic1123218167(+) GCTCTC/TCTGGG 13 E G mis19Minor allele frequency- T:0.03NA WA CSA EA EU 6179
    rs109849191,2
    C,F,Hnon-pathogenic1123228114(+) CAGTCC/TTACCT 12 R G nc-transcript-variantmis1 int110Minor allele frequency- T:0.01NS EA NA 1240
    rs412960811,2
    C,Fnon-pathogenic1123251829(+) CCTGCA/GGAGAT 13 P L mis14Minor allele frequency- G:0.01NA EU 5877
    rs48368221,2,,4
    C,F,A,Hnon-pathogenic1123303318(+) CTCTTG/CAAAGC 13 /Q /E nc-transcript-variantmis1 ese3 trp336Minor allele frequency- C:0.17EA NA NS WA CSA EU 8824

    HapMap Linkage Disequilibrium report for CDK5RAP2 (123151147 - 123342448 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for CDK5RAP2 (see all 12):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv1966921CNV Deletion18987734
    esv2663480CNV Deletion23128226
    esv2738996CNV Deletion23290073
    esv2487988CNV Deletion19546169
    esv33143CNV Loss17666407
    esv2647244CNV Loss19546169
    nsv6699CNV Loss18451855
    esv7137CNV Loss19470904
    nsv825069CNV Gain20364138
    nsv831711CNV Gain17160897

    Human Gene Mutation Database (HGMD): CDK5RAP2
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing CDK5RAP2
    DNA2.0 Custom Variant and Variant Library Synthesis for CDK5RAP2

    (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.)
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    OMIM gene information: 608201   
    OMIM disorders: 604804  
    UniProtKB/Swiss-Prot: CK5P2_HUMAN, Q96SN8
  • Microcephaly 3, primary, autosomal recessive (MCPH3) [MIM:604804]: A disease defined as a head
    circumference more than 3 standard deviations below the age-related mean. Brain weight is markedly reduced and
    the cerebral cortex is disproportionately small. Despite this marked reduction in size, the gyral pattern is
    relatively well preserved, with no major abnormality in cortical architecture. Affected individuals are mentally
    retarded. Primary microcephaly is further defined by the absence of other syndromic features or significant
    neurological deficits due to degenerative brain disorder. Note=The disease is caused by mutations affecting the
    gene represented in this entry

  • 5 diseases for CDK5RAP2:    
    About MalaCards
    primary autosomal recessive microcephaly type 3    primary autosomal recessive microcephaly type 1    microcephaly    microcephaly, primary autosomal recessive
    primary autosomal recessive microcephalies and seckel syndrome spectrum disorders

    1 disease from the University of Copenhagen DISEASES database for CDK5RAP2:
    Microcephaly

    Find genes that share disorders with CDK5RAP2           About GenesLikeMe

    1 Novoseek inferred 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
    GeneReviews: CDK5RAP2
    Genetic Association Database (GAD): CDK5RAP2
    Human Genome Epidemiology (HuGE) Navigator: CDK5RAP2 (4 documents)

    Export disorders for CDK5RAP2 gene to outside databases

    (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)
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    PubMed articles for CDK5RAP2 gene, integrated from 10 sources (see all 63):
    (articles sorted by number of sources associating them with CDK5RAP2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Cloning of three novel neuronal Cdk5 activator binding proteins. (PubMed id 10721722)1, 2, 3, 9 Ching Y.-P.... Wang J.H. (Gene 2000)
    2. Cep68 and Cep215 (Cdk5rap2) are required for centrosome cohesion. (PubMed id 18042621)1, 2, 9 Graser S.... Nigg E.A. (J. Cell Sci. 2007)
    3. 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. (BMC Med. Genet. 2007)
    4. A centrosomal mechanism involving CDK5RAP2 and CENPJ controls brain size. (PubMed id 15793586)1, 2, 9 Bond J.... Woods C.G. (Nat. Genet. 2005)
    5. Importance of the CEP215-pericentrin interaction for centrosome maturation during mitosis. (PubMed id 24466316)1, 3 Kim S. and Rhee K. (PLoS ONE 2014)
    6. Conserved motif of CDK5RAP2 mediates its localization to centrosomes and the Golgi complex. (PubMed id 20466722)1, 2 Wang Z.... Qi R.Z. (J. Biol. Chem. 2010)
    7. Human variation in alcohol response is influenced by variation in neuronal signaling genes. (PubMed id 20201926)1, 4 Joslyn G....White R.L. (Alcohol. Clin. Exp. Res. 2010)
    8. Sex-dependent association of common variants of microcephaly genes with brain structure. (PubMed id 20080800)1, 4 Rimol L.M....Andreassen O.A. (Proc. Natl. Acad. Sci. U.S.A. 2010)
    9. Interaction of CDK5RAP2 with EB1 to track growing microtubule tips and to regulate microtubule dynamics. (PubMed id 19553473)1, 2 Fong K.W.... Qi R.Z. (Mol. Biol. Cell 2009)
    10. CDK5RAP2 is required for spindle checkpoint function. (PubMed id 19282672)1, 2 Zhang X.... Xu X. (Cell Cycle 2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 55755 HGNC: 18672 AceView: CDK5RAP2 Ensembl:ENSG00000136861 euGenes: HUgn55755
    ECgene: CDK5RAP2 H-InvDB: CDK5RAP2

    (According to HUGE)
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    HUGE: KIAA1633

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for CDK5RAP2 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, eBioscience, antibodies-online, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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