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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
    gene page
  • 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
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 4, 35.92 cM, cytoband C2
  • Mapping Data
    5 experiments
Strain
Comparison
more
  • SNPs within 2kb
    5025 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
less
  • Phenotype Summary
    54 phenotypes from 6 alleles in 6 genetic backgrounds
    8 phenotypes from multigenic genotypes
    34 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
    70
  • GO References
    12
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
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
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
    737
  • Tissues
    31
  • cDNA Data
    127
  • Literature Summary
    13
  • Comparison Matrix
    Gene Expression + Phenotype
    • 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 78
      Developmental Gene Expression 13
      Diseases 1
      Gene Ontology 12
      Phenotypes 34
    • Earliest
      J:208 Hertwig P, Neue Mutationen und Koppelungsgruppen bei der Hausmaus. Z Indukt Abstamm Vererbungsl. 1942;80(1):220-246
    • Latest
      J:345621 Adams DJ, et al., Genetic determinants of micronucleus formation in vivo. Nature. 2024 Mar;627(8002):130-136
    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)
    Citing These Resources
    Funding Information
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    Send questions and comments to User Support.     		last database update
    11/12/2024
    MGI 6.24     		The Jackson Laboratory