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    Cdk5rap2 CDK5 regulatory subunit associated protein 2 [ Mus musculus (house mouse) ]

    Gene ID: 214444, updated on 6-Jan-2025

    Summary

    Official Symbol
    Cdk5rap2provided by MGI
    Official Full Name
    CDK5 regulatory subunit associated protein 2provided by MGI
    Primary source
    MGI:MGI:2384875
    See related
    Ensembl:ENSMUSG00000039298 AllianceGenome:MGI:2384875
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    an; mKIAA1633; 2900018K03Rik
    Summary
    Predicted to enable several functions, including calmodulin binding activity; protein kinase binding activity; and tubulin binding activity. Involved in several processes, including establishment of mitotic spindle orientation; negative regulation of centriole replication; and nervous system development. Located in centrosome and mitotic spindle pole. Is expressed in central nervous system and retina. Used to study microcephaly. Human ortholog(s) of this gene implicated in Seckel syndrome; microcephaly; and primary autosomal recessive microcephaly 3. Orthologous to human CDK5RAP2 (CDK5 regulatory subunit associated protein 2). [provided by Alliance of Genome Resources, Jan 2025]
    Expression
    Broad expression in testis adult (RPKM 11.0), CNS E11.5 (RPKM 5.7) and 23 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See Cdk5rap2 in Genome Data Viewer
    Location:
    4; 4 C2
    Exon count:
    37
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 4 NC_000070.7 (70135092..70328672, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 4 NC_000070.6 (70216855..70410435, complement)

    Chromosome 4 - NC_000070.7Genomic Context describing neighboring genes Neighboring gene STARR-seq mESC enhancer starr_10507 Neighboring gene eukaryotic translation initiation factor 3, subunit C pseudogene Neighboring gene 3-hydroxyisobutyrate dehydrogenase pseudogene Neighboring gene STARR-seq mESC enhancer starr_10510 Neighboring gene tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein theta, pseudogene 3 Neighboring gene STARR-seq mESC enhancer starr_10512 Neighboring gene STARR-seq mESC enhancer starr_10513 Neighboring gene STARR-seq mESC enhancer starr_10514 Neighboring gene multiple EGF-like-domains 9 Neighboring gene STARR-positive B cell enhancer mm9_chr4:70195928-70196229 Neighboring gene STARR-seq mESC enhancer starr_10515 Neighboring gene STARR-seq mESC enhancer starr_10516 Neighboring gene STARR-seq mESC enhancer starr_10517 Neighboring gene predicted gene, 32209

    Genomic regions, transcripts, and products

    Expression

    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    BioGRID CRISPR Screen Phenotypes (10 hits/78 screens)

    Associated conditions

    Description Tests
    Hertwig's anemia
    GeneReviews: Not available

    Variation

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (3)  1 citation
    • Gene trapped (3) 
    • Radiation induced (1) 
    • Targeted (3)  1 citation

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Clone Names

    • MGC38528

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables calmodulin binding  
    enables calmodulin binding  
    enables gamma-tubulin binding  
    enables gamma-tubulin binding  
    enables gamma-tubulin binding  
    enables microtubule binding  
    enables microtubule binding  
    enables microtubule binding  
    enables protein binding PubMed 
    enables protein kinase binding  
    enables protein kinase binding  
    enables protein-containing complex binding  
    enables protein-containing complex binding  
    enables transcription cis-regulatory region binding  
    enables transcription cis-regulatory region binding  
    enables tubulin binding  
    Items 1 - 25 of 28
    Process Evidence Code Pubs
    involved_in brain development PubMed 
    involved_in centriole replication  
    involved_in centriole replication  
    involved_in centriole replication  
    involved_in centrosome cycle  
    involved_in centrosome cycle  
    involved_in chromosome segregation  
    involved_in chromosome segregation  
    involved_in chromosome segregation  
    involved_in establishment of mitotic spindle orientation  
    involved_in establishment of mitotic spindle orientation PubMed 
    involved_in microtubule bundle formation  
    involved_in microtubule bundle formation  
    involved_in microtubule bundle formation  
    involved_in microtubule cytoskeleton organization  
    involved_in microtubule organizing center organization  
    involved_in microtubule organizing center organization  
    involved_in negative regulation of centriole replication  
    involved_in negative regulation of centriole replication PubMed 
    involved_in negative regulation of neuron differentiation PubMed 
    involved_in neurogenesis PubMed 
    involved_in positive regulation of DNA-templated transcription  
    involved_in positive regulation of DNA-templated transcription  
    involved_in positive regulation of microtubule polymerization  
    involved_in positive regulation of microtubule polymerization  
    involved_in regulation of mitotic cell cycle spindle assembly checkpoint  
    involved_in regulation of mitotic cell cycle spindle assembly checkpoint  
    involved_in regulation of mitotic cell cycle spindle assembly checkpoint  
    Items 1 - 25 of 28
    Items 1 - 20 of 26
    Component Evidence Code Pubs
    located_in Golgi apparatus  
    located_in Golgi apparatus  
    located_in cell junction  
    located_in cell junction  
    located_in centrosome PubMed 
    located_in centrosome  
    located_in centrosome  
    located_in cytoplasm  
    located_in cytosol  
    located_in cytosol  
    part_of gamma-tubulin ring complex  
    part_of gamma-tubulin ring complex  
    located_in microtubule  
    located_in microtubule  
    is_active_in microtubule plus-end  
    located_in microtubule plus-end  
    located_in microtubule plus-end  
    is_active_in mitotic spindle pole  
    located_in mitotic spindle pole PubMed 
    is_active_in pericentriolar material  
    located_in pericentriolar material  
    located_in pericentriolar material  
    located_in perinuclear region of cytoplasm  
    located_in perinuclear region of cytoplasm  
    located_in spindle pole  
    located_in spindle pole  
    Items 1 - 20 of 26

    General protein information

    Preferred Names
    CDK5 regulatory subunit-associated protein 2
    Names
    CDK5 activator-binding protein C48

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001313762.1NP_001300691.1  CDK5 regulatory subunit-associated protein 2 isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks three exons in the 5' region and initiates translation at a downstream start codon, compared to variant 1. The encoded isoform (2) has a shorter N-terminus than isoform 1.
      Source sequence(s)
      AL929409, BC079888, CF738512
      UniProtKB/TrEMBL
      Q0VGR5
      Conserved Domains (1) summary
      cl21524
      Location:11651287
      PRK13923; putative spore coat protein regulator protein YlbO; Provisional
    2. NM_145990.4NP_666102.2  CDK5 regulatory subunit-associated protein 2 isoform 1

      See identical proteins and their annotated locations for NP_666102.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AL929409, BC086696, CF738512, CN698992
      Consensus CDS
      CCDS38779.1
      UniProtKB/Swiss-Prot
      A2AVA1, Q6PCN1, Q6ZPL0, Q8K389
      UniProtKB/TrEMBL
      Q0VGR5
      Related
      ENSMUSP00000119891.2, ENSMUST00000144099.8
      Conserved Domains (3) summary
      cl21524
      Location:14381560
      PRK13923; putative spore coat protein regulator protein YlbO; Provisional
      pfam00769
      Location:146401
      ERM; Ezrin/radixin/moesin family
      pfam07989
      Location:60128
      Cnn_1N; Centrosomin N-terminal motif 1

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000070.7 Reference GRCm39 C57BL/6J

      Range
      70135092..70328672 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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