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Cep120 Gene Detail
Summary
  • Symbol
    Cep120
  • Name
    centrosomal protein 120
  • Synonyms
    Ccdc100
  • Feature Type
    protein coding gene
  • IDs
    MGI:2147298
    NCBI Gene: 225523
  • Alliance
    gene page
  • Transcription Start Sites
    5 TSS
Location &
Maps
more
  • Sequence Map
    Chr18:53814795-53877680 bp, - strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 18, 29.07 cM
  • Mapping Data
    1 experiment
Strain
Comparison
more
  • SNPs within 2kb
    515 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_2147298
 protein coding gene Chr18:53814795-53877825 (-)
129S1/SvImJ MGP_129S1SvImJ_G0024437
 protein coding gene Chr18:52874584-52941764 (-)
A/J MGP_AJ_G0024403
 protein coding gene Chr18:50827937-50891040 (-)
AKR/J MGP_AKRJ_G0024373
 protein coding gene Chr18:52239058-52303624 (-)
BALB/cJ MGP_BALBcJ_G0024403
 protein coding gene Chr18:51004524-51069285 (-)
C3H/HeJ MGP_C3HHeJ_G0024170
 protein coding gene Chr18:52386050-52449046 (-)
C57BL/6NJ MGP_C57BL6NJ_G0024849
 protein coding gene Chr18:54635872-54698420 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0022281
 protein coding gene Chr18:50587981-50649526 (-)
CAST/EiJ MGP_CASTEiJ_G0023644
 protein coding gene Chr18:52372845-52438131 (-)
CBA/J MGP_CBAJ_G0024140
 protein coding gene Chr18:56252405-56319635 (-)
DBA/2J MGP_DBA2J_G0024270
 protein coding gene Chr18:50530166-50593438 (-)
FVB/NJ MGP_FVBNJ_G0024237
 protein coding gene Chr18:49947629-50010113 (-)
LP/J MGP_LPJ_G0024355
 protein coding gene Chr18:52883064-52948548 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0024267
 protein coding gene Chr18:58016056-58081503 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0024896
 protein coding gene Chr18:52282360-52347046 (-)
PWK/PhJ MGP_PWKPhJ_G0023388
 protein coding gene Chr18:50532587-50608865 (-)
SPRET/EiJ MGP_SPRETEiJ_G0023194
 protein coding gene Chr18:52446948-52511489 (-)
WSB/EiJ MGP_WSBEiJ_G0023707
 protein coding gene Chr18:52207159-52270772 (-)



Homology
more
  • Human Ortholog
    CEP120, centrosomal protein 120
  • Vertebrate Orthologs
    2
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    CEP120, centrosomal protein 120
  • Synonyms
    CCDC100, JBTS31, SRTD13
  • Links
    NCBI Gene ID: 153241
    neXtProt AC: NX_Q8N960
    UniProt: Q8N960

  • Chr Location
    5q23.2; chr5:123344890-123423842 (-)  GRCh38
Human Diseases
more
  • Diseases
    2 with human CEP120 associations

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

Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    19 phenotypes from 2 alleles in 2 genetic backgrounds
    7 images
    10 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 knock-out allele show embryonic growth arrest at E8.5 and die during organogenesis exhibiting abnormal direction of heart looping. Primary mouse embryonic fibroblasts lack cilia and either one or both centrioles.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    33
  • GO References
    7
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
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
    820
  • Tissues
    41
  • cDNA Data
    125
  • Literature Summary
    7
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000048799 Ensembl Gene Model | MGI Sequence Detail 62886 C57BL/6J ±  kb
    transcript ENSMUST00000049811 Ensembl | MGI Sequence Detail 4554 Not Applicable  
    polypeptide ENSMUSP00000062433 Ensembl | MGI Sequence Detail 988 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 125
      cDNA 125

      Microarray probesets 3
    References
    more
    • Summaries
      All 38
      Developmental Gene Expression 7
      Gene Ontology 7
      Phenotypes 10
    • Earliest
      J:60984 Ko MS, et al., Large-scale cDNA analysis reveals phased gene expression patterns during preimplantation mouse development. Development. 2000 Apr;127(8):1737-49
    • Latest
      J:345633 Langner E, et al., Cep120 is essential for kidney stromal progenitor cell growth and differentiation. EMBO Rep. 2024 Jan;25(1):428-454
    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
    04/09/2024
    MGI 6.23     		The Jackson Laboratory