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

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
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
Expression: Broad expression in testis adult (RPKM 11.0), CNS E11.5 (RPKM 5.7) and 23 other tissues See more
Orthologs: human all

Genomic context

Location:: 4; 4 C2

Exon count:: 37

Annotation release	Status	Assembly	Chr	Location
106	current	GRCm38.p4 (GCF_000001635.24)	4	NC_000070.6 (70216855..70410435, complement)
Build 37.2	previous assembly	MGSCv37 (GCF_000001635.18)	4	NC_000070.5 (69884058..70071401, complement)

Chromosome 4 - NC_000070.6 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

We highlight that infertility in Cdk5rap2 mutant mice is secondary to a lack of spermatogenic cells in adult mice as a result of an early developmental defect in the germ cells through mitotic delay, prolonged cell cycle, and apoptosis.
Title: CDK5RAP2 Is Required to Maintain the Germ Cell Pool during Embryonic Development.
mouse expresses only one form of CDK5RAP2 that is equivalent to the human and rat alternatively spliced variant forms
Title: Species-Specific Expression of Full-Length and Alternatively Spliced Variant Forms of CDK5RAP2.
this study revealed the presence of previously unknown splice variants of the Cdk5rap2 gene that are at least in part accountable for the lack of microcephaly in the mice.
Title: Novel Alternative Splice Variants of Mouse Cdk5rap2.
In Cdk5rap2-depleted neural embryonic stem cells there is an increase in cell death in differentiating cells.
Title: Loss of CDK5RAP2 affects neural but not non-neural mESC differentiation into cardiomyocytes.
Mouse expression pattern of CDK5RAP2 is similar to that seen in humans and is in concordance with pathology suggested by neuroimaging studies in humans and mouse
Title: CDK5RAP2 expression during murine and human brain development correlates with pathology in primary autosomal recessive microcephaly.
This study demonistrated that CDK5RAP2 is a key molecule that mediates functional interaction and is essential for centrosomal targeting of Aurora-A.
Title: Activation of Aurora-A is essential for neuronal migration via modulation of microtubule organization.
These results indicate that CDK5RAP2 is required to maintain centriole engagement and cohesion, thereby restricting centriole replication.
Title: CDK5RAP2 regulates centriole engagement and cohesion in mice.
Cdk5rap2 is highly expressed in the neural progenitor pool and its loss results in a depletion of apical progenitors and increased cell-cycle exit leading to premature neuronal differentiation
Title: Cdk5rap2 interacts with pericentrin to maintain the neural progenitor pool in the developing neocortex.
The an mutation is a genomic inversion of exon 4 of Cdk5rap2, resulting in an in-frame deletion of exon 4 from the mRNA. Cdk5rap2(an/an) neuronal precursors exit the cell cycle prematurely and many undergo apoptosis.
Title: Cdk5rap2 regulates centrosome function and chromosome segregation in neuronal progenitors.

Submit: New GeneRIF Correction

Phenotypes

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Associated conditions

Description	Tests
Hertwig's anemia GeneReviews: Not available

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Gene trapped (2)
Targeted (1)
Radiation induced (1)

Pathways from BioSystems

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AURKA Activation by TPX2, organism-specific biosystem (from REACTOME)
AURKA Activation by TPX2, organism-specific biosystemcomputationally inferred pathway (not manually curated)
Anchoring of the basal body to the plasma membrane, organism-specific biosystem (from REACTOME)
Anchoring of the basal body to the plasma membrane, organism-specific biosystemcomputationally inferred pathway (not manually curated)
Cell Cycle, organism-specific biosystem (from REACTOME)
Cell Cycle, organism-specific biosystemcomputationally inferred pathway (not manually curated)
Cell Cycle, Mitotic, organism-specific biosystem (from REACTOME)
Cell Cycle, Mitotic, organism-specific biosystemcomputationally inferred pathway (not manually curated)
Centrosome maturation, organism-specific biosystem (from REACTOME)
Centrosome maturation, organism-specific biosystemcomputationally inferred pathway (not manually curated)
Cilium Assembly, organism-specific biosystem (from REACTOME)
Cilium Assembly, organism-specific biosystemcomputationally inferred pathway (not manually curated)
G2/M Transition, organism-specific biosystem (from REACTOME)
G2/M Transition, organism-specific biosystemcomputationally inferred pathway (not manually curated)
Loss of Nlp from mitotic centrosomes, organism-specific biosystem (from REACTOME)
Loss of Nlp from mitotic centrosomes, organism-specific biosystemcomputationally inferred pathway (not manually curated)
Loss of proteins required for interphase microtubule organization from the centrosome, organism-specific biosystem (from REACTOME)
Loss of proteins required for interphase microtubule organization from the centrosome, organism-specific biosystemcomputationally inferred pathway (not manually curated)
Mitotic G2-G2/M phases, organism-specific biosystem (from REACTOME)
Mitotic G2-G2/M phases, organism-specific biosystemcomputationally inferred pathway (not manually curated)
Organelle biogenesis and maintenance, organism-specific biosystem (from REACTOME)
Organelle biogenesis and maintenance, organism-specific biosystemcomputationally inferred pathway (not manually curated)
Primary Focal Segmental Glomerulosclerosis FSGS, organism-specific biosystem (from WikiPathways)
Primary Focal Segmental Glomerulosclerosis FSGS, organism-specific biosystemPrimary or idiopathic focal segmental glomerulosclerosis (FSGS) a cause of nephrotic syndrome in children and adolescents, as well as an important cause of end stage renal disease in adults. FSGS is ...
Recruitment of mitotic centrosome proteins and complexes, organism-specific biosystem (from REACTOME)
Recruitment of mitotic centrosome proteins and complexes, organism-specific biosystemcomputationally inferred pathway (not manually curated)
Regulation of PLK1 Activity at G2/M Transition, organism-specific biosystem (from REACTOME)
Regulation of PLK1 Activity at G2/M Transition, organism-specific biosystemcomputationally inferred pathway (not manually curated)
XPodNet - protein-protein interactions in the podocyte expanded by STRING, organism-specific biosystem (from WikiPathways)
XPodNet - protein-protein interactions in the podocyte expanded by STRING, organism-specific biosystemXPodNet is a larger version of PodNet. Interactions from STRING database have been added to PodNet to build XPodNet. Hence, not all interactions found in XPodNet do necessarily have to be curated.

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Homology

Homologs of the Cdk5rap2 gene: The Cdk5rap2 gene is conserved in human, chimpanzee, Rhesus monkey, dog, cow, rat, and chicken.
Orthologs from Annotation Pipeline: 226 organisms have orthologs with human gene Cdk5rap2
Orthologs

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
calmodulin binding	ISO Inferred from Sequence Orthology more info
gamma-tubulin binding	ISO Inferred from Sequence Orthology more info
microtubule binding	ISO Inferred from Sequence Orthology more info
protein binding	IPI Inferred from Physical Interaction more info	PubMed
protein kinase binding	ISO Inferred from Sequence Orthology more info
protein-containing complex binding	ISO Inferred from Sequence Orthology more info
transcription regulatory region DNA binding	ISO Inferred from Sequence Orthology more info
tubulin binding	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
brain development	IMP Inferred from Mutant Phenotype more info	PubMed
centriole replication	ISO Inferred from Sequence Orthology more info
centrosome cycle	ISO Inferred from Sequence Orthology more info
chromosome segregation	ISO Inferred from Sequence Orthology more info
establishment of mitotic spindle orientation	IMP Inferred from Mutant Phenotype more info	PubMed
microtubule bundle formation	ISO Inferred from Sequence Orthology more info
microtubule cytoskeleton organization	ISO Inferred from Sequence Orthology more info
microtubule organizing center organization	ISO Inferred from Sequence Orthology more info
negative regulation of centriole replication	IMP Inferred from Mutant Phenotype more info	PubMed
negative regulation of neuron differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
neurogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
positive regulation of microtubule polymerization	ISO Inferred from Sequence Orthology more info
positive regulation of transcription, DNA-templated	ISO Inferred from Sequence Orthology more info
regulation of mitotic cell cycle spindle assembly checkpoint	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
Golgi apparatus	ISO Inferred from Sequence Orthology more info
cell junction	ISO Inferred from Sequence Orthology more info
centrosome	IDA Inferred from Direct Assay more info	PubMed
centrosome	ISO Inferred from Sequence Orthology more info
cytoplasm	ISO Inferred from Sequence Orthology more info
cytoskeleton	IEA Inferred from Electronic Annotation more info
colocalizes_with gamma-tubulin ring complex	ISO Inferred from Sequence Orthology more info
microtubule	ISO Inferred from Sequence Orthology more info
microtubule organizing center	IEA Inferred from Electronic Annotation more info
microtubule plus-end	ISO Inferred from Sequence Orthology more info
mitotic spindle pole	IDA Inferred from Direct Assay more info	PubMed
pericentriolar material	ISO Inferred from Sequence Orthology more info
perinuclear region of cytoplasm	ISO Inferred from Sequence Orthology more info
spindle pole	ISO Inferred from Sequence Orthology more info

General protein information

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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)

NM_001313762.1 → NP_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:1165 → 1287

PRK13923; putative spore coat protein regulator protein YlbO; Provisional
NM_145990.4 → NP_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

Q8K389

UniProtKB/TrEMBL

Q0VGR5

Related

ENSMUSP00000119891.1, ENSMUST00000144099.7

Conserved Domains (3) summary

cl21524
Location:1438 → 1560

PRK13923; putative spore coat protein regulator protein YlbO; Provisional

pfam00769
Location:146 → 401

ERM; Ezrin/radixin/moesin family

pfam07989
Location:60 → 128

Cnn_1N; Centrosomin N-terminal motif 1