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 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, Dec 2024]
Expression: Broad expression in testis adult (RPKM 11.0), CNS E11.5 (RPKM 5.7) and 23 other tissues See more
Orthologs: human all
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Genomic context

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_000070.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

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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 Functions

What's a GeneRIF?

Arl2 GTPase associates with the centrosomal protein Cdk5rap2 to regulate cortical development via microtubule organization.
Title: Arl2 GTPase associates with the centrosomal protein Cdk5rap2 to regulate cortical development via microtubule organization.
CDK5RAP2 loss-of-function causes premature cell senescence via the GSK3beta/beta-catenin-WIP1 pathway.
Title: CDK5RAP2 loss-of-function causes premature cell senescence via the GSK3β/β-catenin-WIP1 pathway.
CEP215 and AURKA regulate spindle pole focusing and aMTOC organization in mouse oocytes.
Title: CEP215 and AURKA regulate spindle pole focusing and aMTOC organization in mouse oocytes.
Congenital microcephaly-linked CDK5RAP2 affects eye development.
Title: Congenital microcephaly-linked CDK5RAP2 affects eye development.
we report a novel role for Cdk5rap2 in the regulation of dendritic development and synaptogenesis of neocortical layer 2/3 pyramidal neurons
Title: Altered inhibition and excitation in neocortical circuits in congenital microcephaly.
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.

Submit: New GeneRIF Correction See all GeneRIFs (14)

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)

Endonuclease-mediated (2) 1 citation
Gene trapped (3)
Radiation induced (1)
Targeted (3) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables calmodulin binding	ISO Inferred from Sequence Orthology more info
enables calmodulin binding	ISS Inferred from Sequence or Structural Similarity more info
enables gamma-tubulin binding	IBA Inferred from Biological aspect of Ancestor more info
enables gamma-tubulin binding	IEA Inferred from Electronic Annotation more info
enables gamma-tubulin binding	ISO Inferred from Sequence Orthology more info
enables microtubule binding	IBA Inferred from Biological aspect of Ancestor more info
enables microtubule binding	IEA Inferred from Electronic Annotation more info
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	ISO Inferred from Sequence Orthology more info
enables protein kinase binding	ISS Inferred from Sequence or Structural Similarity more info
enables protein-containing complex binding	IEA Inferred from Electronic Annotation more info
enables protein-containing complex binding	ISO Inferred from Sequence Orthology more info
enables transcription cis-regulatory region binding	ISO Inferred from Sequence Orthology more info
enables transcription cis-regulatory region binding	ISS Inferred from Sequence or Structural Similarity 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
involved_in centriole replication	IEA Inferred from Electronic Annotation more info
involved_in centriole replication	ISO Inferred from Sequence Orthology more info
involved_in centrosome cycle	ISO Inferred from Sequence Orthology more info
involved_in centrosome cycle	ISS Inferred from Sequence or Structural Similarity more info
involved_in chromosome segregation	IBA Inferred from Biological aspect of Ancestor more info
involved_in chromosome segregation	ISO Inferred from Sequence Orthology more info
involved_in chromosome segregation	ISS Inferred from Sequence or Structural Similarity more info
involved_in establishment of mitotic spindle orientation	IBA Inferred from Biological aspect of Ancestor more info
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
involved_in microtubule bundle formation	ISO Inferred from Sequence Orthology more info
involved_in microtubule bundle formation	ISS Inferred from Sequence or Structural Similarity 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 microtubule organizing center organization	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of centriole replication	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of centriole replication	IMP Inferred from Mutant Phenotype more info	PubMed
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	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of DNA-templated transcription	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of microtubule polymerization	IEA Inferred from Electronic Annotation more info
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
involved_in regulation of mitotic cell cycle spindle assembly checkpoint	ISO Inferred from Sequence Orthology more info
involved_in regulation of mitotic cell cycle spindle assembly checkpoint	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
located_in Golgi apparatus	ISO Inferred from Sequence Orthology more info
located_in Golgi apparatus	ISS Inferred from Sequence or Structural Similarity more info
located_in cell junction	IEA Inferred from Electronic Annotation 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 centrosome	ISS Inferred from Sequence or Structural Similarity more info
located_in cytoplasm	ISO Inferred from Sequence Orthology more info
located_in cytosol	IEA Inferred from Electronic Annotation more info
located_in cytosol	ISO Inferred from Sequence Orthology more info
part_of gamma-tubulin ring complex	IEA Inferred from Electronic Annotation 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	ISS Inferred from Sequence or Structural Similarity more info
is_active_in microtubule plus-end	IBA Inferred from Biological aspect of Ancestor more info
located_in microtubule plus-end	ISO Inferred from Sequence Orthology more info
located_in microtubule plus-end	ISS Inferred from Sequence or Structural Similarity more info
is_active_in mitotic spindle pole	IBA Inferred from Biological aspect of Ancestor more info
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
located_in pericentriolar material	ISO Inferred from Sequence Orthology more info
located_in pericentriolar material	ISS Inferred from Sequence or Structural Similarity more info
located_in perinuclear region of cytoplasm	ISO Inferred from Sequence Orthology more info
located_in perinuclear region of cytoplasm	ISS Inferred from Sequence or Structural Similarity more info
located_in spindle pole	ISO Inferred from Sequence Orthology more info
located_in spindle pole	ISS Inferred from Sequence or Structural Similarity 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

UniProtKB/TrEMBL

Q0VGR5

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

A2AVA1, Q6PCN1, Q6ZPL0, Q8K389

UniProtKB/TrEMBL

Q0VGR5

Related

ENSMUSP00000119891.2, ENSMUST00000144099.8

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