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

Gene ID: 214444, updated on 26-Sep-2022

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 14-3-3 protein binding activity; calmodulin 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 several human genes including CDK5RAP2 (CDK5 regulatory subunit associated protein 2). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Broad expression in testis adult (RPKM 11.0), CNS E11.5 (RPKM 5.7) and 23 other tissues See more
Orthologs
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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
109 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 eukaryotic translation initiation factor 3, subunit C pseudogene Neighboring gene 3-hydroxyisobutyrate dehydrogenase pseudogene Neighboring gene tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein theta, pseudogene 3 Neighboring gene multiple EGF-like-domains 9 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

Associated conditions

Description Tests
Hertwig's anemia
GeneReviews: Not available

Variation

Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Gene trapped (3) 
  • Targeted (2)  1 citation
  • Radiation induced (1) 
  • Endonuclease-mediated (1) 

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC38528

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables calmodulin binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables calmodulin binding ISO
Inferred from Sequence Orthology
more info
 
enables gamma-tubulin binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables gamma-tubulin binding ISO
Inferred from Sequence Orthology
more info
 
enables microtubule binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables microtubule binding ISO
Inferred from Sequence Orthology
more info
 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables protein kinase binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables protein kinase binding ISO
Inferred from Sequence Orthology
more info
 
enables protein-containing complex binding ISO
Inferred from Sequence Orthology
more info
 
enables transcription cis-regulatory region binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables transcription cis-regulatory region binding ISO
Inferred from Sequence Orthology
more info
 
enables tubulin binding ISO
Inferred from Sequence Orthology
more info
 
Process Evidence Code Pubs
involved_in brain development IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in centriole replication IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in centriole replication ISO
Inferred from Sequence Orthology
more info
 
involved_in centrosome cycle ISO
Inferred from Sequence Orthology
more info
 
involved_in chromosome segregation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in chromosome segregation ISO
Inferred from Sequence Orthology
more info
 
involved_in establishment of mitotic spindle orientation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in establishment of mitotic spindle orientation IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in microtubule bundle formation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in microtubule bundle formation ISO
Inferred from Sequence Orthology
more info
 
involved_in microtubule cytoskeleton organization ISO
Inferred from Sequence Orthology
more info
 
involved_in microtubule organizing center organization ISO
Inferred from Sequence Orthology
more info
 
involved_in negative regulation of centriole replication IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in negative regulation of centriole replication IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in negative regulation of cyclin-dependent protein serine/threonine kinase activity ISO
Inferred from Sequence Orthology
more info
 
involved_in negative regulation of neuron differentiation IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in neurogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in positive regulation of DNA-templated transcription IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in positive regulation of DNA-templated transcription ISO
Inferred from Sequence Orthology
more info
 
involved_in positive regulation of microtubule polymerization IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in positive regulation of microtubule polymerization ISO
Inferred from Sequence Orthology
more info
 
involved_in regulation of mitotic cell cycle spindle assembly checkpoint IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in regulation of mitotic cell cycle spindle assembly checkpoint ISO
Inferred from Sequence Orthology
more info
 
Component Evidence Code Pubs
located_in Golgi apparatus ISO
Inferred from Sequence Orthology
more info
 
located_in cell junction ISO
Inferred from Sequence Orthology
more info
 
located_in centrosome IDA
Inferred from Direct Assay
more info
PubMed 
located_in centrosome ISO
Inferred from Sequence Orthology
more info
 
located_in cytoplasm ISO
Inferred from Sequence Orthology
more info
 
located_in cytoskeleton IEA
Inferred from Electronic Annotation
more info
 
located_in cytosol ISO
Inferred from Sequence Orthology
more info
 
part_of gamma-tubulin ring complex ISO
Inferred from Sequence Orthology
more info
 
located_in microtubule ISO
Inferred from Sequence Orthology
more info
 
located_in microtubule organizing center IEA
Inferred from Electronic Annotation
more info
 
is_active_in microtubule plus-end IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in microtubule plus-end ISO
Inferred from Sequence Orthology
more info
 
is_active_in mitotic spindle pole IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in mitotic spindle pole IDA
Inferred from Direct Assay
more info
PubMed 
is_active_in pericentriolar material IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in pericentriolar material ISO
Inferred from Sequence Orthology
more info
 
is_active_in perinuclear region of cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in perinuclear region of cytoplasm ISO
Inferred from Sequence Orthology
more info
 
located_in spindle pole ISO
Inferred from Sequence Orthology
more info
 

General protein information

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

NCBI Reference Sequences (RefSeq)

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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
    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
    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: Mus musculus Annotation Release 109 details...Open this link in a new tab

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)