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Cox6a2 Gene Detail
Summary
  • Symbol
    Cox6a2
  • Name
    cytochrome c oxidase subunit 6A2
  • Synonyms
    COXVIaH, subunit VIaH (heart-type), VIaH
  • Feature Type
    protein coding gene
  • IDs
    MGI:104649
    NCBI Gene: 12862
  • Alliance
    gene page
  • Transcription Start Sites
    6 TSS
Location &
Maps
more
  • Sequence Map
    Chr7:127804607-127805538 bp, - strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 7, 70.04 cM
  • Mapping Data
    5 experiments
Strain
Comparison
more
  • SNPs within 2kb
    53 from dbSNP Build 142
  • Strain Annotations
    18
  • RFLP
    1
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_104649
 protein coding gene Chr7:127804607-127805559 (-)
129S1/SvImJ MGP_129S1SvImJ_G0033075
 protein coding gene Chr7:132611301-132612247 (-)
A/J MGP_AJ_G0033057
 protein coding gene Chr7:129047146-129048098 (-)
AKR/J MGP_AKRJ_G0032989
 protein coding gene Chr7:132426607-132427559 (-)
BALB/cJ MGP_BALBcJ_G0033058
 protein coding gene Chr7:128714354-128715306 (-)
C3H/HeJ MGP_C3HHeJ_G0032772
 protein coding gene Chr7:132309783-132310735 (-)
C57BL/6NJ MGP_C57BL6NJ_G0033568
 protein coding gene Chr7:137785222-137786174 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0030540
 protein coding gene Chr7:130231914-130232880 (-)
CAST/EiJ MGP_CASTEiJ_G0032102
 protein coding gene Chr7:124099403-124100356 (-)
CBA/J MGP_CBAJ_G0032745
 protein coding gene Chr7:142481633-142482585 (-)
DBA/2J MGP_DBA2J_G0032897
 protein coding gene Chr7:127035767-127036719 (-)
FVB/NJ MGP_FVBNJ_G0032850
 protein coding gene Chr7:126897658-126898611 (-)
LP/J MGP_LPJ_G0032991
 protein coding gene Chr7:134088086-134089032 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0032882
 protein coding gene Chr7:143519517-143520470 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0033587
 protein coding gene Chr7:131387526-131388478 (-)
PWK/PhJ MGP_PWKPhJ_G0031808
 protein coding gene Chr7:120045354-120046299 (-)
SPRET/EiJ MGP_SPRETEiJ_G0031654
 protein coding gene Chr7:118191147-118192097 (-)
WSB/EiJ MGP_WSBEiJ_G0032213
 protein coding gene Chr7:132366176-132367128 (-)



Homology
more
  • Human Ortholog
    COX6A2, cytochrome c oxidase subunit 6A2
  • Vertebrate Orthologs
    4
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    COX6A2, cytochrome c oxidase subunit 6A2
  • Synonyms
    COX6AH, COXVIAH, COXVIa-M, MC4DN18
  • Links
    NCBI Gene ID: 1339
    neXtProt AC: NX_Q02221
    UniProt: Q02221

  • Chr Location
    16p11.2; chr16:31427731-31428360 (-)  GRCh38
Human Diseases
more
  • Diseases
    1 with human COX6A2 associations

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

Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    3 phenotypes from 1 allele in 1 genetic background
    6 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 null mutation exhibit cardiac dysfunction as a result of abnormal ventricular filling or diastolic dysfunction under maximal cardiac load.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    5
  • GO References
    4
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
    886
  • Tissues
    111
  • cDNA Data
    163
  • Literature Summary
    13
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 12862 NCBI Gene Model | MGI Sequence Detail 932 C57BL/6J ±  kb
    transcript NM_009943 RefSeq | MGI Sequence Detail 678 ZRU/MplStud  
    polypeptide P43023 UniProt | EBI | MGI Sequence Detail 97 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 169
      Genomic 4
      cDNA 163
      Primer pair 2

      Microarray probesets 3
    Other
    Accession IDs
    less
    MGD-MRK-26089
    References
    more
    • Summaries
      All 47
      Developmental Gene Expression 13
      Gene Ontology 4
      Phenotypes 6
    • Earliest
      J:23130 Grossman LI, et al., Cloning, sequence analysis, and expression of a mouse cDNA encoding cytochrome c oxidase subunit VIa liver isoform. Biochim Biophys Acta. 1995 Feb 21;1260(3):361-4
    • Latest
      J:322231 Malwade S, et al., Identification of Vulnerable Interneuron Subtypes in 15q13.3 Microdeletion Syndrome Using Single-Cell Transcriptomics. Biol Psychiatry. 2022 Apr 15;91(8):727-739
    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
    04/16/2024
    MGI 6.23     		The Jackson Laboratory