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Coq8a Gene Detail
Summary
  • Symbol
    Coq8a
  • Name
    coenzyme Q8A
  • Synonyms
    4632432J16Rik, Adck3, Cabc1, mKIAA0451
  • Feature Type
    protein coding gene
  • IDs
    MGI:1914676
    NCBI Gene: 67426
  • Gene Overview
    MyGene.info: COQ8A
  • Alliance
  • Transcription Start Sites
    8 TSS
Location &
Maps
more
  • Sequence Map
    Chr1:180165238-180196020 bp, - strand
  • From NCBI annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome 1, 84.15 cM, cytoband H4
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    401 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1914676
protein coding gene Chr1:180165238-180199602 (-)
129S1/SvImJ MGP_129S1SvImJ_G0016866
protein coding gene Chr1:186579896-186615240 (-)
A/J MGP_AJ_G0016845
protein coding gene Chr1:179041703-179076163 (-)
AKR/J MGP_AKRJ_G0016811
protein coding gene Chr1:184364216-184400361 (-)
BALB/cJ MGP_BALBcJ_G0016803
protein coding gene Chr1:179664342-179698581 (-)
C3H/HeJ MGP_C3HHeJ_G0016628
protein coding gene Chr1:185125894-185161190 (-)
C57BL/6NJ MGP_C57BL6NJ_G0017266
protein coding gene Chr1:192603027-192638402 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0014974
protein coding gene Chr1:170018840-170053145 (-)
CAST/EiJ MGP_CASTEiJ_G0016209
protein coding gene Chr1:184438226-184477504 (-)
CBA/J MGP_CBAJ_G0016602
protein coding gene Chr1:199753519-199789574 (-)
DBA/2J MGP_DBA2J_G0016708
protein coding gene Chr1:177880204-177913812 (-)
FVB/NJ MGP_FVBNJ_G0016704
protein coding gene Chr1:175970985-176005805 (-)
LP/J MGP_LPJ_G0016782
protein coding gene Chr1:187842779-187877015 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0016735
protein coding gene Chr1:206960785-206997080 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0017303
protein coding gene Chr1:184137138-184171474 (-)
PWK/PhJ MGP_PWKPhJ_G0015997
protein coding gene Chr1:176947191-176997447 (-)
SPRET/EiJ MGP_SPRETEiJ_G0015773
protein coding gene Chr1:183048781-183097461 (-)
WSB/EiJ MGP_WSBEiJ_G0016272
protein coding gene Chr1:184335563-184369933 (-)



Homology
more
  • Human Ortholog
    COQ8A, coenzyme Q8A
  • Vertebrate Orthologs
    10
  • Human Ortholog
    COQ8A, coenzyme Q8A
    Orthology source: HomoloGene, HGNC
  • Synonyms
    ADCK3, ARCA2, CABC1, COQ10D4, COQ8, SCAR9
  • Links
    NCBI Gene ID: 56997
    neXtProt AC: NX_Q8NI60
    UniProt: Q8NI60

  • Chr Location
    1q42.13; chr1:226939339-226987545 (+)  GRCh38.p7

  • HomoloGene
    Vertebrate Homology Class 11345
    1 human;1 mouse;1 rat;1 chimpanzee;1 cattle;1 dog;1 chicken;1 zebrafish;1 frog, western clawed;1 macaque, rhesus
  • HCOP
    human homology predictions: COQ8A
  • Gene Tree
Human Diseases
more
  • Diseases
    1 with Coq8a mouse models; 1 with human COQ8A associations

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
    13 phenotypes from 1 allele in 1 genetic background
    8 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
immune system
integument
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
neoplasm
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
vision/eye

Click cells to view annotations.
Homozygous null mice develop slowly progressing cerebellar ataxia, Purkinje cell degeneration and dysfunction, mild exercise intolerance, and increased susceptibility to induced seizures.
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 death
cell differentiation
cell population proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
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
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
  • cDNA Data
  • Literature Summary
  • Comparison Matrix
  • Interactions
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 67426 NCBI Gene Model | MGI Sequence Detail 30783 C57BL/6J ±  kb
    transcript NM_023341 RefSeq | MGI Sequence Detail 4026 C57BL/6  
    polypeptide Q60936 UniProt | EBI | MGI Sequence Detail 645 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 9
      cDNA 9

      Microarray probesets 6
    Other
    Accession IDs
    less
    MGI:2138259
    References
    more
    • Summaries
      All 32
      Developmental Gene Expression 1
      Diseases 1
      Gene Ontology 4
      Phenotypes 8
    • Earliest
      J:65060 Kawai J, et al., Functional annotation of a full-length mouse cDNA collection. Nature. 2001 Feb 8;409(6821):685-90
    • Latest
      J:249129 Stefely JA, et al., Cerebellar Ataxia and Coenzyme Q Deficiency through Loss of Unorthodox Kinase Activity. Mol Cell. 2016 Aug 18;63(4):608-620

    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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    last database update
    07/07/2020
    MGI 6.15
    The Jackson Laboratory