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Cdk5rap2 Gene Detail
Summary
  • Symbol
    Cdk5rap2
  • Name
    CDK5 regulatory subunit associated protein 2
  • Synonyms
    2900018K03Rik, an, MGC:38528, mKIAA1633
  • Feature Type
    protein coding gene
  • IDs
    MGI:2384875
    NCBI Gene: 214444
  • Alliance
  • Transcription Start Sites
    12 TSS
Location &
Maps
more
  • Sequence Map
    Chr4:70135092-70328672 bp, - strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
  • Genetic Map
    Chromosome 4, 35.92 cM, cytoband C2
  • Mapping Data
    5 experiments
Strain
Comparison
more
  • SNPs within 2kb
    1376 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_2384875
protein coding gene Chr4:70135092-70328680 (-)
129S1/SvImJ MGP_129S1SvImJ_G0028381
protein coding gene Chr4:69410953-69605627 (-)
A/J MGP_AJ_G0028342
protein coding gene Chr4:66986951-67181530 (-)
AKR/J MGP_AKRJ_G0028291
protein coding gene Chr4:68728757-68926989 (-)
BALB/cJ MGP_BALBcJ_G0028362
protein coding gene Chr4:67180294-67365046 (-)
C3H/HeJ MGP_C3HHeJ_G0028077
protein coding gene Chr4:69281752-69486833 (-)
C57BL/6NJ MGP_C57BL6NJ_G0028802
protein coding gene Chr4:71832216-72039810 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0026105
protein coding gene Chr4:63825025-64005795 (-)
CAST/EiJ MGP_CASTEiJ_G0027519
protein coding gene Chr4:67267946-67456015 (-)
CBA/J MGP_CBAJ_G0028046
protein coding gene Chr4:74235078-74438997 (-)
DBA/2J MGP_DBA2J_G0028195
protein coding gene Chr4:66776150-66962894 (-)
FVB/NJ MGP_FVBNJ_G0028161
protein coding gene Chr4:65943852-66130760 (-)
LP/J MGP_LPJ_G0028294
protein coding gene Chr4:69726958-69920940 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0028190
protein coding gene Chr4:77831608-78028821 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0028838
protein coding gene Chr4:68852153-69044644 (-)
PWK/PhJ MGP_PWKPhJ_G0027245
protein coding gene Chr4:65218988-65431909 (-)
SPRET/EiJ MGP_SPRETEiJ_G0027071
protein coding gene Chr4:66334651-66543859 (-)
WSB/EiJ MGP_WSBEiJ_G0027595
protein coding gene Chr4:68928595-69125928 (-)



Homology
more
  • Human Ortholog
    CDK5RAP2, CDK5 regulatory subunit associated protein 2
  • Vertebrate Orthologs
    2
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    CDK5RAP2, CDK5 regulatory subunit associated protein 2
  • Synonyms
    C48, Cep215, MCPH3
  • Links
    NCBI Gene ID: 55755
    neXtProt AC: NX_Q96SN8
    UniProt: Q96SN8

  • Chr Location
    9q33.2; chr9:120388875-120580170 (-)  GRCh38

Human Diseases
more
  • Diseases
    1 with Cdk5rap2 mouse models; 3 with human CDK5RAP2 associations

Human Disease Mouse Models
      
IDs
View 2 models
      
IDs
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    49 phenotypes from 5 alleles in 5 genetic backgrounds
    7 phenotypes from multigenic genotypes
    31 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
Homozygous mutant phenotype varies by strain background. Severely affected mutants exhibit small size, severe anemia, and neonatal death. Mildly affected mutants are viable with mild macrocytic anemia, reduced fertility and radiation senstitivity.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
  • Comparison Matrix
  • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 214444 NCBI Gene Model | MGI Sequence Detail 193581 C57BL/6J ±  kb
    transcript NM_145990 RefSeq | MGI Sequence Detail 11840 ZRU/MplStud  
    polypeptide Q8K389 UniProt | EBI | MGI Sequence Detail 1822 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 128
      cDNA 128

      Microarray probesets 7
    Other
    Accession IDs
    less
    MGD-MRK-1317, MGI:1920103, MGI:88021
    References
    more
    • Summaries
      All 75
      Developmental Gene Expression 13
      Diseases 1
      Gene Ontology 12
      Phenotypes 31
    • Earliest
      J:208 Hertwig P, Neue Mutationen und Koppelungsgruppen bei der Hausmaus. Z Indukt Abstamm Vererbungsl. 1942;80(1):220-246
    • Latest
      J:326669 Tatrai P, et al., Centrosome function is critical during terminal erythroid differentiation. EMBO J. 2022 Jul 18;41(14):e108739

    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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    Funding Information
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    last database update
    03/12/2024
    MGI 6.23
    The Jackson Laboratory