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Aliases for CDK5RAP2 Gene

Aliases for CDK5RAP2 Gene

  • CDK5 Regulatory Subunit Associated Protein 2 2 3 5
  • CDK5 Activator-Binding Protein C48 3 4
  • Centrosomin 2 3
  • Cep215 3 4
  • Microcephaly, Primary Autosomal Recessive 3 2
  • Centrosome-Associated Protein 215 4
  • Centrosomal Protein 215 KDa 3
  • KIAA1633 4
  • MCPH3 3
  • C48 3

External Ids for CDK5RAP2 Gene

Previous HGNC Symbols for CDK5RAP2 Gene

  • MCPH3

Previous GeneCards Identifiers for CDK5RAP2 Gene

  • GC09M114255
  • GC09M114797
  • GC09M116604
  • GC09M118527
  • GC09M120230
  • GC09M122190
  • GC09M123151
  • GC09M092769

Summaries for CDK5RAP2 Gene

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 microcephaly 3, primary, autosomal recessive and autosomal recessive primary microcephaly. Among its related pathways are Regulation of PLK1 Activity at G2/M Transition and Organelle biogenesis and maintenance. 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 for CDK5RAP2 Gene

  • 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. Regulates centrosomal maturation by recruitment of a gamma-tubulin ring complex onto centrosomes (PubMed:26485573).

Gene Wiki entry for CDK5RAP2 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CDK5RAP2 Gene

Genomics for CDK5RAP2 Gene

Regulatory Elements for CDK5RAP2 Gene

Enhancers for CDK5RAP2 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around CDK5RAP2 on UCSC Golden Path with GeneCards custom track

Promoters for CDK5RAP2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around CDK5RAP2 on UCSC Golden Path with GeneCards custom track

Genomic Location for CDK5RAP2 Gene

Chromosome:
9
Start:
120,388,869 bp from pter
End:
120,580,170 bp from pter
Size:
191,302 bases
Orientation:
Minus strand

Genomic View for CDK5RAP2 Gene

Genes around CDK5RAP2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CDK5RAP2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CDK5RAP2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CDK5RAP2 Gene

Proteins for CDK5RAP2 Gene

  • Protein details for CDK5RAP2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96SN8-CK5P2_HUMAN
    Recommended name:
    CDK5 regulatory subunit-associated protein 2
    Protein Accession:
    Q96SN8
    Secondary Accessions:
    • Q5JV18
    • Q7Z3L4
    • Q7Z3U1
    • Q7Z7I6
    • Q9BSW0
    • Q9H6J6
    • Q9HCD9
    • Q9NV90
    • Q9UIW9

    Protein attributes for CDK5RAP2 Gene

    Size:
    1893 amino acids
    Molecular mass:
    215038 Da
    Quaternary structure:
    • Interacts with CDK5R1 (p35 form) (By similarity). 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. Interacts with CEP68; degradation of CEP68 in early mitosis leads to removal of CDK5RAP2 from the centrosome which promotes centriole disengagement and subsequent centriole separation (PubMed:25503564). Interacts with NCKAP5L (PubMed:26485573).
    SequenceCaution:
    • Sequence=AAH04526.2; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAA91865.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAB13459.2; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=BAB15263.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAB55253.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=CAD97663.1; Type=Erroneous termination; Positions=1205; Note=Translated as Gln.; Evidence={ECO:0000305}; Sequence=CAD97828.1; Type=Frameshift; Positions=1831; Evidence={ECO:0000305};

    Alternative splice isoforms for CDK5RAP2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CDK5RAP2 Gene

Proteomics data for CDK5RAP2 Gene at MOPED

Post-translational modifications for CDK5RAP2 Gene

  • Phosphorylated in vitro by CDK5.
  • Ubiquitination at Lys 489, Lys 495, Lys 592, Lys 797, Lys 1184, Lys 1215, Lys 1233, and Lys 1320
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for CDK5RAP2 Gene

Domains & Families for CDK5RAP2 Gene

Protein Domains for CDK5RAP2 Gene

InterPro:
Blocks:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with CDK5RAP2: view

No data available for Gene Families and UniProtKB/Swiss-Prot for CDK5RAP2 Gene

Function for CDK5RAP2 Gene

Molecular function for CDK5RAP2 Gene

UniProtKB/Swiss-Prot 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. Regulates centrosomal maturation by recruitment of a gamma-tubulin ring complex onto centrosomes (PubMed:26485573).

Gene Ontology (GO) - Molecular Function for CDK5RAP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0015631 tubulin binding IPI 17959831
genes like me logo Genes that share ontologies with CDK5RAP2: view
genes like me logo Genes that share phenotypes with CDK5RAP2: view

Human Phenotype Ontology for CDK5RAP2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for CDK5RAP2 Gene

MGI Knock Outs for CDK5RAP2:

Animal Model Products

CRISPR Products

miRNA for CDK5RAP2 Gene

miRTarBase miRNAs that target CDK5RAP2

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for CDK5RAP2 Gene

Localization for CDK5RAP2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CDK5RAP2 Gene

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. {ECO:0000269 PubMed:26485573}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for CDK5RAP2 Gene COMPARTMENTS Subcellular localization image for CDK5RAP2 gene
Compartment Confidence
cytoskeleton 5
cytosol 5
extracellular 5
golgi apparatus 5
nucleus 3

Gene Ontology (GO) - Cellular Components for CDK5RAP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000242 pericentriolar material IDA 17959831
GO:0005737 cytoplasm IDA 17959831
GO:0005829 cytosol TAS --
GO:0048471 perinuclear region of cytoplasm IDA 17959831
GO:0070062 extracellular exosome IDA 19056867
genes like me logo Genes that share ontologies with CDK5RAP2: view

Pathways & Interactions for CDK5RAP2 Gene

genes like me logo Genes that share pathways with CDK5RAP2: view

Gene Ontology (GO) - Biological Process for CDK5RAP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000132 establishment of mitotic spindle orientation ISS --
GO:0000278 mitotic cell cycle TAS --
GO:0006996 organelle organization TAS --
GO:0007059 chromosome segregation IMP 19282672
GO:0007099 centriole replication IMP 26297806
genes like me logo Genes that share ontologies with CDK5RAP2: view

No data available for SIGNOR curated interactions for CDK5RAP2 Gene

Drugs & Compounds for CDK5RAP2 Gene

No Compound Related Data Available

Transcripts for CDK5RAP2 Gene

Unigene Clusters for CDK5RAP2 Gene

CDK5 regulatory subunit associated protein 2:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for CDK5RAP2 Gene

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:
SP6: -
SP7:
SP8:
SP9:
SP10:

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: - - - -
SP6:
SP7:
SP8:
SP9:
SP10:

Relevant External Links for CDK5RAP2 Gene

GeneLoc Exon Structure for
CDK5RAP2
ECgene alternative splicing isoforms for
CDK5RAP2

Expression for CDK5RAP2 Gene

mRNA expression in normal human tissues for CDK5RAP2 Gene

mRNA differential expression in normal tissues according to GTEx for CDK5RAP2 Gene

This gene is overexpressed in Whole Blood (x5.2).

Protein differential expression in normal tissues from HIPED for CDK5RAP2 Gene

This gene is overexpressed in Heart (34.8), Plasma (14.8), Peripheral blood mononuclear cells (7.7), and Bone marrow mesenchymal stem cell (7.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for CDK5RAP2 Gene



SOURCE GeneReport for Unigene cluster for CDK5RAP2 Gene Hs.269560

mRNA Expression by UniProt/SwissProt for CDK5RAP2 Gene

Q96SN8-CK5P2_HUMAN
Tissue specificity: Widely expressed. Expressed in heart, brain, placenta, lung, liver, skeletal muscle, kidney and pancreas.
genes like me logo Genes that share expression patterns with CDK5RAP2: view

Protein tissue co-expression partners for CDK5RAP2 Gene

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery for CDK5RAP2 Gene

Orthologs for CDK5RAP2 Gene

This gene was present in the common ancestor of chordates.

Orthologs for CDK5RAP2 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia CDK5RAP2 35
  • 79.13 (n)
  • 70.78 (a)
CDK5RAP2 36
  • 69 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CDK5RAP2 35
  • 81.61 (n)
  • 73.81 (a)
CDK5RAP2 36
  • 72 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Cdk5rap2 35
  • 79.15 (n)
  • 71.11 (a)
Cdk5rap2 16
Cdk5rap2 36
  • 70 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia CDK5RAP2 35
  • 99.37 (n)
  • 98.84 (a)
CDK5RAP2 36
  • 98 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Cdk5rap2 35
  • 76.46 (n)
  • 67.95 (a)
oppossum
(Monodelphis domestica)
Mammalia CDK5RAP2 36
  • 54 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CDK5RAP2 36
  • 44 (a)
OneToOne
chicken
(Gallus gallus)
Aves CDK5RAP2 35
  • 59.33 (n)
  • 49 (a)
CDK5RAP2 36
  • 42 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 38 (a)
OneToMany
-- 36
  • 42 (a)
OneToMany
African clawed frog
(Xenopus laevis)
Amphibia Xl.19841 35
zebrafish
(Danio rerio)
Actinopterygii wufi74c05 35
CDK5RAP2 36
  • 17 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 18 (a)
OneToMany
Species with no ortholog for CDK5RAP2:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for CDK5RAP2 Gene

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

Paralogs for CDK5RAP2 Gene

Paralogs for CDK5RAP2 Gene

genes like me logo Genes that share paralogs with CDK5RAP2: view

Variants for CDK5RAP2 Gene

Sequence variations from dbSNP and Humsavar for CDK5RAP2 Gene

SNP ID Clin Chr 09 pos Sequence Context AA Info Type
rs4836822 - 120,528,758(+) CTCTT(C/G)AAAGC nc-transcript-variant, reference, missense
rs4837768 - 120,408,455(+) CTTCA(C/G)CTCCT nc-transcript-variant, reference, missense
rs3780679 - 120,443,634(+) AGCTT(C/G/T)TTTGC nc-transcript-variant, reference, missense
rs13287734 - 120,536,487(+) CCCTG(C/G/T)AAAGG nc-transcript-variant, reference, missense
rs16909747 - 120,407,154(+) ATGCT(C/G)CTTTC intron-variant, nc-transcript-variant, reference, missense

Structural Variations from Database of Genomic Variants (DGV) for CDK5RAP2 Gene

Variant ID Type Subtype PubMed ID
nsv7434 OTHER Inversion 18451855
nsv825069 CNV Gain 20364138
nsv6699 CNV Loss 18451855
nsv825070 CNV Gain 20364138
esv33143 CNV Loss 17666407
esv2647244 CNV Loss 19546169
esv2487988 CNV Deletion 19546169
esv1966921 CNV Deletion 18987734
esv2738996 CNV Deletion 23290073
esv2663480 CNV Deletion 23128226
esv7137 CNV Loss 19470904
nsv831711 CNV Gain 17160897

Variation tolerance for CDK5RAP2 Gene

Residual Variation Intolerance Score: 48.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.74; 73.34% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CDK5RAP2 Gene

HapMap Linkage Disequilibrium report
CDK5RAP2
Human Gene Mutation Database (HGMD)
CDK5RAP2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CDK5RAP2 Gene

Disorders for CDK5RAP2 Gene

MalaCards: The human disease database

(9) MalaCards diseases for CDK5RAP2 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
microcephaly 3, primary, autosomal recessive
  • primary autosomal recessive microcephaly type 3
autosomal recessive primary microcephaly
  • mcph
primary microcephaly
  • microcephaly, primary
microcephaly
  • microcephalus
chronic eosinophilic leukemia
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

CK5P2_HUMAN
  • 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. {ECO:0000269 PubMed:15793586}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for CDK5RAP2

Genetic Association Database (GAD)
CDK5RAP2
Human Genome Epidemiology (HuGE) Navigator
CDK5RAP2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CDK5RAP2
genes like me logo Genes that share disorders with CDK5RAP2: view

No data available for Genatlas for CDK5RAP2 Gene

Publications for CDK5RAP2 Gene

  1. Cloning of three novel neuronal Cdk5 activator binding proteins. (PMID: 10721722) Ching Y.-P. … Wang J.H. (Gene 2000) 2 3 4 23 67
  2. Previously described sequence variant in CDK5RAP2 gene in a Pakistani family with autosomal recessive primary microcephaly. (PMID: 17764569) Hassan M.J. … Ahmad W. (BMC Med. Genet. 2007) 2 3 23
  3. Importance of the CEP215-pericentrin interaction for centrosome maturation during mitosis. (PMID: 24466316) Kim S. … Rhee K. (PLoS ONE 2014) 2 3
  4. Cep68 and Cep215 (Cdk5rap2) are required for centrosome cohesion. (PMID: 18042621) Graser S. … Nigg E.A. (J. Cell Sci. 2007) 3 23
  5. A centrosomal mechanism involving CDK5RAP2 and CENPJ controls brain size. (PMID: 15793586) Bond J. … Woods C.G. (Nat. Genet. 2005) 3 23

Products for CDK5RAP2 Gene

Sources for CDK5RAP2 Gene

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