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Cep250 Gene Detail
Summary
  • Symbol
    Cep250
  • Name
    centrosomal protein 250
  • Synonyms
    B230210E21Rik, Cep2, Inmp
  • Feature Type
    protein coding gene
  • IDs
    MGI:108084
    NCBI Gene: 16328
  • Alliance
    gene page
  • Transcription Start Sites
    6 TSS
Location &
Maps
more
  • Sequence Map
    Chr2:155798378-155840820 bp, + strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 2, 77.26 cM
  • Mapping Data
    3 experiments
Strain
Comparison
more
  • SNPs within 2kb
    1160 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_108084
 protein coding gene Chr2:155798197-155840820 (+)
129S1/SvImJ MGP_129S1SvImJ_G0026750
 protein coding gene Chr2:160812390-160856647 (+)
A/J MGP_AJ_G0026716
 protein coding gene Chr2:154424612-154468488 (+)
AKR/J MGP_AKRJ_G0026687
 protein coding gene Chr2:158908463-158951010 (+)
BALB/cJ MGP_BALBcJ_G0026725
 protein coding gene Chr2:154719411-154765187 (+)
C3H/HeJ MGP_C3HHeJ_G0026468
 protein coding gene Chr2:159270673-159314857 (+)
C57BL/6NJ MGP_C57BL6NJ_G0027174
 protein coding gene Chr2:165528974-165580574 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0024544
 protein coding gene Chr2:147919708-147962552 (+)
CAST/EiJ MGP_CASTEiJ_G0025929
 protein coding gene Chr2:159593498-159638446 (+)
CBA/J MGP_CBAJ_G0026445
 protein coding gene Chr2:171531966-171588888 (+)
DBA/2J MGP_DBA2J_G0026582
 protein coding gene Chr2:153599510-153642119 (+)
FVB/NJ MGP_FVBNJ_G0026549
 protein coding gene Chr2:151977646-152021969 (+)
LP/J MGP_LPJ_G0026687
 protein coding gene Chr2:160954299-160998014 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0026570
 protein coding gene Chr2:175511414-175555078 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0027230
 protein coding gene Chr2:158781746-158833916 (+)
PWK/PhJ MGP_PWKPhJ_G0025663
 protein coding gene Chr2:153100818-153151403 (+)
SPRET/EiJ MGP_SPRETEiJ_G0025466
 protein coding gene Chr2:157730511-157776760 (+)
WSB/EiJ MGP_WSBEiJ_G0025999
 protein coding gene Chr2:159671873-159718068 (+)



Homology
more
  • Human Ortholog
    CEP250, centrosomal protein 250
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    CEP250, centrosomal protein 250
  • Synonyms
    CEP2, C-NAP1, CNAP1, CRDHL2
  • Links
    NCBI Gene ID: 11190
    neXtProt AC: NX_Q9BV73
    UniProt: Q9BV73

  • Chr Location
    20q11.22; chr20:35455164-35519280 (+)  GRCh38
Human Diseases
more
  • Diseases
    1 with Cep250 mouse models

Human Disease Mouse Models
      
IDs
 View 1 model
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
    26 phenotypes from 4 alleles in 4 genetic backgrounds
    15 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.
Mice homozygous for a single point mutation exhibit decreased total retinal thickness, thin retinal outer nuclear layer, dye leakage from retinal vessels, reduced electroretinogram responses, and retinal photoreceptor degeneration. Mice homozygous for another null allele exhibit male infertility.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    24
  • GO References
    9
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
    776
  • Tissues
    48
  • cDNA Data
    60
  • Literature Summary
    4
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000038241 Ensembl Gene Model | MGI Sequence Detail 42443 C57BL/6J ±  kb
    transcript ENSMUST00000109619 Ensembl | MGI Sequence Detail 7977 Not Applicable  
    polypeptide ENSMUSP00000105248 Ensembl | MGI Sequence Detail 2435 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 62
      cDNA 60
      Primer pair 2

      Microarray probesets 3
    Other
    Accession IDs
    less
    MGD-MRK-37121, MGI:2139351, MGI:2444448
    References
    more
    • Summaries
      All 48
      Developmental Gene Expression 4
      Diseases 1
      Gene Ontology 9
      Phenotypes 15
    • Earliest
      J:36773 Menz K, et al., INMP, a novel intranuclear matrix protein related to the family of intermediate filament-like proteins: molecular cloning and sequence analysis. Biochim Biophys Acta. 1996 Nov 11;1309(1-2):14-20
    • 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)
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    Funding Information
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    Send questions and comments to User Support.     		last database update
    12/10/2024
    MGI 6.24     		The Jackson Laboratory