MT-CO2 (mitochondrially encoded cytochrome c oxidase II) - Rat Genome Database

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Gene: MT-CO2 (mitochondrially encoded cytochrome c oxidase II) Homo sapiens
Analyze
Symbol: MT-CO2
Name: mitochondrially encoded cytochrome c oxidase II
RGD ID: 1605433
HGNC Page HGNC
Description: Contributes to cytochrome-c oxidase activity. Predicted to be involved in mitochondrial electron transport, cytochrome c to oxygen and positive regulation of vasoconstriction. Located in mitochondrial respiratory chain complex IV. Part of respiratory chain complex IV. Biomarker of Huntington's disease and stomach cancer.
Type: protein-coding
RefSeq Status: PROVISIONAL
Also known as: COII; cytochrome c oxidase subunit II; MTCO2
RGD Orthologs
Mouse
Rat
Dog
Pig
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblMT7,586 - 8,269 (+)EnsemblGRCh38hg38GRCh38
GRCh38MT7,586 - 8,269 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37MT7,586 - 8,269 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36MT7,587 - 8,270 (+)NCBINCBI36hg18NCBI36


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-catechin  (ISO)
(+)-epicatechin-3-O-gallate  (EXP)
(-)-epigallocatechin 3-gallate  (EXP)
1,2-dimethylhydrazine  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP)
2,2',4,4'-Tetrabromodiphenyl ether  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,6-di-tert-butyl-4-methylphenol  (EXP,ISO)
3,3'-diindolylmethane  (EXP)
3-isobutyl-1-methyl-7H-xanthine  (ISO)
5-methyl-4-oxido-2-pyrazin-4-iumcarboxylic acid  (EXP)
aldehydo-D-glucose  (EXP)
all-trans-retinoic acid  (EXP,ISO)
aristolochic acid  (EXP)
arsane  (EXP)
arsenic atom  (EXP)
atrazine  (EXP,ISO)
bexarotene  (EXP,ISO)
bisphenol A  (ISO)
butylated hydroxyanisole  (EXP,ISO)
cadmium atom  (EXP,ISO)
cadmium dichloride  (EXP)
carbon nanotube  (ISO)
chloramphenicol  (EXP)
chlorogenic acid  (ISO)
chromium(6+)  (EXP)
cis-caffeic acid  (ISO)
cisplatin  (ISO)
clarithromycin  (EXP)
copper atom  (EXP,ISO)
copper(0)  (EXP,ISO)
D-glucose  (EXP)
desferrioxamine B  (ISO)
dexamethasone  (ISO)
didanosine  (EXP)
doxorubicin  (EXP,ISO)
ethidium  (EXP)
flutamide  (ISO)
fructose  (ISO)
gallic acid  (EXP)
gallocatechin  (EXP)
gentamycin  (ISO)
glucose  (EXP)
hydrogen peroxide  (EXP,ISO)
hydrogen sulfide  (ISO)
ivermectin  (EXP)
josamycin  (EXP)
lamivudine  (ISO)
lead nitrate  (ISO)
Licarin A  (ISO)
microcystin-LR  (ISO)
Mitotane  (EXP)
N-methyl-4-phenylpyridinium  (EXP)
nimesulide  (EXP)
okadaic acid  (EXP)
oxaloacetic acid  (EXP)
p-menthan-3-ol  (EXP)
paracetamol  (ISO)
paraquat  (ISO)
perfluorooctanoic acid  (ISO)
pirinixic acid  (ISO)
Propiverine  (ISO)
puerarin  (ISO)
quercetin  (EXP)
reactive oxygen species  (ISO)
resveratrol  (EXP,ISO)
sodium arsenite  (EXP,ISO)
sodium fluoride  (ISO)
sodium hydrogensulfite  (ISO)
sulfur dioxide  (ISO)
T-2 toxin  (ISO)
tenofovir disoproxil fumarate  (EXP)
thapsigargin  (EXP)
trans-caffeic acid  (ISO)
trichloroethene  (ISO)
tungsten  (ISO)
tunicamycin  (EXP)
tyrphostin B42  (EXP)
valproic acid  (EXP)
zalcitabine  (ISO)
zidovudine  (EXP,ISO)

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abnormal aortic valve physiology  (IAGP)
Abnormal left ventricular function  (IAGP)
Abnormal mitochondria in muscle tissue  (IAGP)
Abnormal mitral valve physiology  (IAGP)
Agenesis of corpus callosum  (IAGP)
Anemia  (IAGP)
Anxiety  (IAGP)
Aphasia  (IAGP)
Aplasia/Hypoplasia of the cerebral white matter  (IAGP)
Ataxia  (IAGP)
Basal ganglia calcification  (IAGP)
Bilateral sensorineural hearing impairment  (IAGP)
Bilateral tonic-clonic seizure  (IAGP)
Bipolar affective disorder  (IAGP)
Cardiac conduction abnormality  (IAGP)
Cerebral cortical atrophy  (IAGP)
Cerebral visual impairment  (IAGP)
Colon cancer  (IAGP)
Concentric hypertrophic cardiomyopathy  (IAGP)
Congestive heart failure  (IAGP)
Constipation  (IAGP)
Decreased activity of mitochondrial complex IV  (IAGP)
Dementia  (IAGP)
Depression  (IAGP)
Developmental cataract  (IAGP)
Diabetes mellitus  (IAGP)
Diarrhea  (IAGP)
Dilated cardiomyopathy  (IAGP)
Distal peripheral sensory neuropathy  (IAGP)
EEG abnormality  (IAGP)
Elevated brain lactate level by MRS  (IAGP)
Encephalopathy  (IAGP)
Episodic vomiting  (IAGP)
Erythema  (IAGP)
Exercise intolerance  (IAGP)
Failure to thrive  (IAGP)
Fever  (IAGP)
Fluctuations in consciousness  (IAGP)
Focal segmental glomerulosclerosis  (IAGP)
Focal white matter lesions  (IAGP)
Focal-onset seizure  (IAGP)
Gait disturbance  (IAGP)
Global developmental delay  (IAGP)
Growth abnormality  (IAGP)
Hemianopia  (IAGP)
Hemiparesis  (IAGP)
Hypertension  (IAGP)
Hypertrichosis  (IAGP)
Hypogonadotropic hypogonadism  (IAGP)
Hypoparathyroidism  (IAGP)
Hypoplasia of the corpus callosum  (IAGP)
Hypothyroidism  (IAGP)
Impaired visuospatial constructive cognition  (IAGP)
Increased CSF lactate  (IAGP)
Increased CSF protein  (IAGP)
Increased serum lactate  (IAGP)
Intestinal pseudo-obstruction  (IAGP)
Ischemic stroke  (IAGP)
Lactic acidosis  (IAGP)
Left ventricular hypertrophy  (IAGP)
Macrocytic dyserythropoietic anemia  (IAGP)
Memory impairment  (IAGP)
Migraine  (IAGP)
Mitochondrial inheritance  (IAGP)
Mitochondrial myopathy  (IAGP)
Mixed demyelinating and axonal polyneuropathy  (IAGP)
Motor delay  (IAGP)
Muscle weakness  (IAGP)
Myoclonus  (IAGP)
Myopathy  (IAGP)
Nephropathy  (IAGP)
Ophthalmoplegia  (IAGP)
Optic atrophy  (IAGP)
Peripheral axonal neuropathy  (IAGP)
Personality changes  (IAGP)
Pigmentary retinopathy  (IAGP)
Progressive external ophthalmoplegia  (IAGP)
Progressive sensorineural hearing impairment  (IAGP)
Proteinuria  (IAGP)
Proximal tubulopathy  (IAGP)
Psychotic mentation  (IAGP)
Pulmonary arterial hypertension  (IAGP)
Ragged-red muscle fibers  (IAGP)
Recurrent pancreatitis  (IAGP)
Recurrent paroxysmal headache  (IAGP)
Sensorimotor neuropathy  (IAGP)
Sensorineural hearing impairment  (IAGP)
Short attention span  (IAGP)
Short stature  (IAGP)
Stroke  (IAGP)
Stroke-like episode  (IAGP)
Stuttering  (IAGP)
Tetralogy of Fallot  (IAGP)
Type I diabetes mellitus  (IAGP)
Type II diabetes mellitus  (IAGP)
Variable expressivity  (IAGP)
Visual loss  (IAGP)
Vitiligo  (IAGP)
Vomiting  (IAGP)
Widened cerebral subarachnoid space  (IAGP)
Wolff-Parkinson-White syndrome  (IAGP)
References

Additional References at PubMed
PMID:1651240   PMID:2550900   PMID:10194136   PMID:10486321   PMID:11849212   PMID:12031622   PMID:12115729   PMID:12732844   PMID:14607829   PMID:15254227   PMID:15282306   PMID:15308583  
PMID:15316498   PMID:15931342   PMID:15965049   PMID:16157265   PMID:16288875   PMID:16826196   PMID:17353931   PMID:17500595   PMID:17578348   PMID:17619138   PMID:18409190   PMID:18509181  
PMID:19050702   PMID:19066432   PMID:19295170   PMID:19336478   PMID:19393246   PMID:19738201   PMID:19758471   PMID:19771519   PMID:19840943   PMID:19946888   PMID:20186120   PMID:20301403  
PMID:20301411   PMID:20471030   PMID:20936779   PMID:21069476   PMID:21092633   PMID:21319273   PMID:21653829   PMID:21873635   PMID:21988832   PMID:22119785   PMID:22145905   PMID:22241583  
PMID:22252130   PMID:22262461   PMID:22419111   PMID:22802641   PMID:22810586   PMID:22990118   PMID:23125284   PMID:23362268   PMID:23826975   PMID:23841600   PMID:24061460   PMID:24403053  
PMID:24448823   PMID:24711643   PMID:24797263   PMID:24931671   PMID:25315684   PMID:25464930   PMID:25505242   PMID:25959673   PMID:26138249   PMID:26160915   PMID:26344197   PMID:26465331  
PMID:26972000   PMID:27025967   PMID:27075590   PMID:27173435   PMID:27422531   PMID:27432908   PMID:27999206   PMID:28330871   PMID:28515276   PMID:28675297   PMID:28786533   PMID:29049411  
PMID:29053956   PMID:29128334   PMID:29154948   PMID:29180619   PMID:29298432   PMID:29306248   PMID:29355485   PMID:29381136   PMID:29467282   PMID:29507755   PMID:29509190   PMID:29509794  
PMID:29568061   PMID:29955894   PMID:30030519   PMID:30315213   PMID:30352685   PMID:30463901   PMID:30619736   PMID:31073040   PMID:31180492   PMID:31350224   PMID:31470122   PMID:31527615  
PMID:31536960   PMID:31586073   PMID:31628462   PMID:31732153   PMID:31980649   PMID:31995728   PMID:32096057   PMID:32416067   PMID:32877691   PMID:32913203   PMID:33152664   PMID:33194618  
PMID:33416107   PMID:33845483   PMID:33961781   PMID:34079125   PMID:34709727  


Genomics

Comparative Map Data
MT-CO2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblMT7,586 - 8,269 (+)EnsemblGRCh38hg38GRCh38
GRCh38MT7,586 - 8,269 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37MT7,586 - 8,269 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36MT7,587 - 8,270 (+)NCBINCBI36hg18NCBI36
mt-Co2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39MT7,013 - 7,696 (+)NCBIGRCm39mm39
GRCm39 EnsemblMT7,013 - 7,696 (+)Ensembl
GRCm38MT7,013 - 7,696 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 EnsemblMT7,013 - 7,696 (+)EnsemblGRCm38mm10GRCm38
MGSCv37MT7,013 - 7,696 (+)NCBIGRCm37mm9NCBIm37
Mt-co2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2MT7,006 - 7,689 (+)NCBImRatBN7.2
mRatBN7.2 EnsemblMT7,006 - 7,689 (+)Ensembl
Rnor_6.0MT7,006 - 7,689 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 EnsemblMT7,006 - 7,689 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0MT7,006 - 7,689 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4MT7,006 - 7,689 (+)NCBIRGSC3.4rn4RGSC3.4
Cytogenetic MapMT NCBI
MT-CO2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1MT7,034 - 7,717 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 EnsemblMT7,034 - 7,717 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_TashaMT7,034 - 7,717 (+)NCBI
MT-CO2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 EnsemblMT8,203 - 8,890 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1MT8,203 - 8,890 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2MT8,203 - 8,890 (+)NCBISscrofa10.2Sscrofa10.2susScr3

Position Markers
RH98513  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371567,937 - 568,064UniSTSGRCh37
GRCh37MT7,386 - 7,513UniSTSGRCh37
Build 361557,800 - 557,927RGDNCBI36
Cytogenetic Map5q35.2UniSTS
HuRef14,191 - 4,318UniSTS
D17S813E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371567,717 - 567,912UniSTSGRCh37
GRCh37MT7,166 - 7,361UniSTSGRCh37
Build 361557,580 - 557,775RGDNCBI36
Cytogenetic Map5q35.2UniSTS
HuRef13,971 - 4,166UniSTS
D1S2077E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371568,241 - 568,324UniSTSGRCh37
GRCh37MT7,690 - 7,773UniSTSGRCh37
Build 361558,104 - 558,187RGDNCBI36
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map9q21.32UniSTS
Cytogenetic Map11q13UniSTS
HuRef14,495 - 4,578UniSTS
PMC109173P1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37MT7,483 - 8,364UniSTSGRCh37
GRCh371568,034 - 568,913UniSTSGRCh37
Build 361557,897 - 558,776RGDNCBI36
HuRef14,288 - 5,167UniSTS
PMC196577P3  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37MT7,561 - 7,983UniSTSGRCh37
GRCh371568,112 - 568,534UniSTSGRCh37
Build 361557,975 - 558,397RGDNCBI36
HuRef14,366 - 4,788UniSTS
PMC20756P1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37MT7,483 - 7,570UniSTSGRCh37
GRCh371568,034 - 568,121UniSTSGRCh37
Build 361557,897 - 557,984RGDNCBI36
HuRef14,288 - 4,375UniSTS
PMC20756P2  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37MT7,483 - 8,383UniSTSGRCh37
GRCh371568,034 - 568,932UniSTSGRCh37
Build 361557,897 - 558,795RGDNCBI36
HuRef14,288 - 5,186UniSTS
PMC20756P3  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37MT7,125 - 7,672UniSTSGRCh37
GRCh371567,676 - 568,223UniSTSGRCh37
Build 361557,539 - 558,086RGDNCBI36
HuRef13,930 - 4,477UniSTS
PMC55343P2  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37MT6,318 - 6,918UniSTSGRCh37
GRCh371566,868 - 567,469UniSTSGRCh37
Build 361556,731 - 557,332RGDNCBI36
HuRef13,123 - 3,723UniSTS
PMC55343P3  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37MT7,358 - 7,937UniSTSGRCh37
GRCh371567,909 - 568,488UniSTSGRCh37
Build 361557,772 - 558,351RGDNCBI36
HuRef14,163 - 4,742UniSTS
PMC55343P4  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37MT8,280 - 8,366UniSTSGRCh37
GRCh371568,829 - 568,915UniSTSGRCh37
Build 361558,692 - 558,778RGDNCBI36
HuRef15,083 - 5,169UniSTS
SHGC-57364  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371568,715 - 568,840UniSTSGRCh37
GRCh37MT8,164 - 8,291UniSTSGRCh37
Build 361558,578 - 558,703RGDNCBI36
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map9q21.32UniSTS
HuRef14,969 - 5,094UniSTS

miRNA Target Status

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR101-1hsa-miR-101-3pMirtarbaseexternal_infoMicroarrayFunctional MTI (Weak)17875710
MIR101-1hsa-miR-101-3pOncomiRDBexternal_infoNANA21430074
MIR101-1hsa-miR-101-3pOncomiRDBexternal_infoNANA19133256
MIR101-2hsa-miR-101-3pMirtarbaseexternal_infoMicroarrayFunctional MTI (Weak)17875710
MIR101-2hsa-miR-101-3pOncomiRDBexternal_infoNANA21430074
MIR101-2hsa-miR-101-3pOncomiRDBexternal_infoNANA19133256
MIR137hsa-miR-137OncomiRDBexternal_infoNANA22406049
MIR143hsa-miR-143-3pMirtarbaseexternal_infoMicroarrayFunctional MTI (Weak)17875710
MIR143hsa-miR-143-3pOncomiRDBexternal_infoNANA21790228

Predicted Target Of
Summary Value
Count of predictions:213
Count of miRNA genes:194
Interacting mature miRNAs:194
Transcripts:ENST00000361739
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system adipose tissue appendage entire extraembryonic component
High 2431 2965 1719 622 1922 464 4354 2189 3707 416 1446 1608 171 1204 2787 3
Medium 1 19 4 26 1 4 1 2 2 1 1
Low
Below cutoff

Sequence

Nucleotide Sequences
GenBank Nucleotide J01415 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000361739   ⟹   ENSP00000354876
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblMT7,586 - 8,269 (+)Ensembl
Protein Sequences
Protein RefSeqs YP_003024029 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAB58946 (Get FASTA)   NCBI Sequence Viewer  
  P00403 (Get FASTA)   NCBI Sequence Viewer  
Reference Sequences
RefSeq Acc Id: ENSP00000354876   ⟸   ENST00000361739
Protein Domains
COX2_CUA   COX2_TM


Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
m.8009G>A single nucleotide variant Familial colorectal cancer [RCV000010295] ChrMT:8009 [GRCh38]
ChrMT:8009 [GRCh37]
pathogenic
m.7587T>C single nucleotide variant Mitochondrial complex IV deficiency [RCV000010294] ChrMT:7587 [GRCh38]
ChrMT:7587 [GRCh37]
pathogenic
m.7671T>A single nucleotide variant Mitochondrial complex IV deficiency [RCV000010296] ChrMT:7671 [GRCh38]
ChrMT:7671 [GRCh37]
pathogenic
m.8042_8043delAT deletion Mitochondrial complex IV deficiency [RCV000010297] ChrMT:8042..8043 [GRCh38]
ChrMT:8042..8043 [GRCh37]
pathogenic
m.7896G>A single nucleotide variant Mitochondrial complex IV deficiency [RCV000010298] ChrMT:7896 [GRCh38]
ChrMT:7896 [GRCh37]
pathogenic
NC_012920.1:m.5782_13922del8141 deletion Primary dilated cardiomyopathy [RCV000191151] ChrMT:5782..13922 [GRCh38]
ChrMT:5782..13922 [GRCh37]
likely pathogenic
NC_012920.1:m.5794_14876del9083 deletion Primary dilated cardiomyopathy [RCV000191152] ChrMT:5794..14876 [GRCh38]
ChrMT:5794..14876 [GRCh37]
likely pathogenic
NC_012920.1:m.8047T>C single nucleotide variant not provided [RCV000224635] ChrMT:8047 [GRCh38]
ChrMT:8047 [GRCh37]
uncertain significance
NC_012920.1:m.7867C>T single nucleotide variant not provided [RCV000224876] ChrMT:7867 [GRCh38]
ChrMT:7867 [GRCh37]
likely benign
NC_012920.1:m.7861T>C single nucleotide variant not provided [RCV000224932] ChrMT:7861 [GRCh38]
ChrMT:7861 [GRCh37]
likely benign
NC_012920.1:m.7819C>A single nucleotide variant not provided [RCV000224943] ChrMT:7819 [GRCh38]
ChrMT:7819 [GRCh37]
likely benign
NC_012920.1:m.8202T>C single nucleotide variant not provided [RCV000757480] ChrMT:8202 [GRCh38]
ChrMT:8202 [GRCh37]
uncertain significance
NC_012920.1:m.8156G>C single nucleotide variant not provided [RCV000757481] ChrMT:8156 [GRCh38]
ChrMT:8156 [GRCh37]
uncertain significance
NC_012920.1:m.8084A>G single nucleotide variant Ischemic stroke, susceptibility to [RCV000414851]|Leigh syndrome [RCV000854147] ChrMT:8084 [GRCh38]
ChrMT:8084 [GRCh37]
likely benign|uncertain significance
NC_012920.1:m.7789G>A single nucleotide variant not provided [RCV000421061] ChrMT:7789 [GRCh38]
ChrMT:7789 [GRCh37]
benign
NC_012920.1:m.8260T>C single nucleotide variant not provided [RCV000432394] ChrMT:8260 [GRCh38]
ChrMT:8260 [GRCh37]
likely benign
NC_012920.1:m.7965T>C single nucleotide variant Mitochondrial complex IV deficiency [RCV000509036] ChrMT:7965 [GRCh38]
ChrMT:7965 [GRCh37]
uncertain significance
NC_012920.1(MT-CO2):m.7637G>A single nucleotide variant Leigh syndrome [RCV000854079]|not specified [RCV000506977] ChrMT:7637 [GRCh38]
ChrMT:7637 [GRCh37]
likely benign|uncertain significance
NC_012920.1:m.7989T>C single nucleotide variant Mitochondrial disease [RCV000494913] ChrMT:7989 [GRCh38]
ChrMT:7989 [GRCh37]
pathogenic
NC_012920.1:m.6003_11220del5218 deletion Mitochondrial disease [RCV000495067] ChrMT:6003..11220 [GRCh38]
ChrMT:6003..11220 [GRCh37]
pathogenic
NC_012920.1:m.7730_11255del3526 deletion Mitochondrial disease [RCV000495092] ChrMT:7730..11255 [GRCh38]
ChrMT:7730..11255 [GRCh37]
pathogenic
NC_012920.1:m.6469_15587del9119 deletion Mitochondrial disease [RCV000495334] ChrMT:6468..15586 [GRCh38]
ChrMT:6468..15586 [GRCh37]
pathogenic
NC_012920.1:m.7129_13991del6863 deletion Mitochondrial disease [RCV000495692] ChrMT:7126..13988 [GRCh38]
ChrMT:7126..13988 [GRCh37]
pathogenic|likely pathogenic
NC_012920.1:m.8088delT deletion Mitochondrial complex IV deficiency [RCV000677242] ChrMT:8087 [GRCh38]
ChrMT:8087 [GRCh37]
pathogenic
NC_012920.1(MT-CO2):m.7639del deletion Tetralogy of Fallot [RCV000714972] ChrMT:7638 [GRCh38]
ChrMT:7638 [GRCh37]
pathogenic
NC_012920.1:m.7632T>C single nucleotide variant Leigh syndrome [RCV000854078] ChrMT:7632 [GRCh38]
ChrMT:7632 [GRCh37]
uncertain significance
NC_012920.1:m.7664G>T single nucleotide variant Leigh syndrome [RCV000854082] ChrMT:7664 [GRCh38]
ChrMT:7664 [GRCh37]
uncertain significance
NC_012920.1:m.7713T>C single nucleotide variant Leigh syndrome [RCV000854092] ChrMT:7713 [GRCh38]
ChrMT:7713 [GRCh37]
uncertain significance
NC_012920.1:m.7785T>C single nucleotide variant Leigh syndrome [RCV000854103] ChrMT:7785 [GRCh38]
ChrMT:7785 [GRCh37]
likely benign
NC_012920.1:m.7796A>G single nucleotide variant Leigh syndrome [RCV000854104] ChrMT:7796 [GRCh38]
ChrMT:7796 [GRCh37]
likely benign
NC_012920.1:m.7811A>G single nucleotide variant Leigh syndrome [RCV000854109] ChrMT:7811 [GRCh38]
ChrMT:7811 [GRCh37]
uncertain significance
NC_012920.1:m.7814G>A single nucleotide variant Leigh syndrome [RCV000854110] ChrMT:7814 [GRCh38]
ChrMT:7814 [GRCh37]
uncertain significance
NC_012920.1:m.7830G>A single nucleotide variant Leigh syndrome [RCV000854111] ChrMT:7830 [GRCh38]
ChrMT:7830 [GRCh37]
benign
NC_012920.1:m.7833T>C single nucleotide variant Leigh syndrome [RCV000854112] ChrMT:7833 [GRCh38]
ChrMT:7833 [GRCh37]
uncertain significance
NC_012920.1:m.7874A>G single nucleotide variant Leigh syndrome [RCV000854119] ChrMT:7874 [GRCh38]
ChrMT:7874 [GRCh37]
uncertain significance
NC_012920.1:m.7922T>C single nucleotide variant Leigh syndrome [RCV000854123] ChrMT:7922 [GRCh38]
ChrMT:7922 [GRCh37]
uncertain significance
NC_012920.1:m.8141G>A single nucleotide variant Leigh syndrome [RCV000854151] ChrMT:8141 [GRCh38]
ChrMT:8141 [GRCh37]
uncertain significance
NC_012920.1:m.8210A>G single nucleotide variant Leigh syndrome [RCV000854153] ChrMT:8210 [GRCh38]
ChrMT:8210 [GRCh37]
uncertain significance
NC_012920.1:m.7680_7681insGTC insertion Abnormal mitral valve physiology [RCV000770896] ChrMT:7680..7681 [GRCh38]
ChrMT:7680..7681 [GRCh37]
pathogenic
NC_012920.1:m.7790_7791insTCC insertion Abnormal mitral valve physiology [RCV000770899] ChrMT:7789..7790 [GRCh38]
ChrMT:7789..7790 [GRCh37]
pathogenic
NC_012920.1:m.7661_7662insCCA insertion Abnormal aortic valve physiology [RCV000768657] ChrMT:7661..7662 [GRCh38]
ChrMT:7661..7662 [GRCh37]
likely pathogenic|drug response
NC_012920.1:m.7668_7669insCCA insertion Abnormal aortic valve physiology [RCV000768659] ChrMT:7668..7669 [GRCh38]
ChrMT:7668..7669 [GRCh37]
likely pathogenic
NC_012920.1:m.7815_7816insCCC duplication Abnormal mitral valve physiology [RCV000770900] ChrMT:7814..7815 [GRCh38]
ChrMT:7814..7815 [GRCh37]
pathogenic
NC_012920.1:m.7624T>A single nucleotide variant not provided [RCV000992349] ChrMT:7624 [GRCh38]
ChrMT:7624 [GRCh37]
benign
NC_012920.1:m.8269G>A single nucleotide variant not provided [RCV000992357] ChrMT:8269 [GRCh38]
ChrMT:8269 [GRCh37]
benign
NC_012920.1:m.7771A>G single nucleotide variant not provided [RCV000992352] ChrMT:7771 [GRCh38]
ChrMT:7771 [GRCh37]
benign
NC_012920.1:m.7873C>T single nucleotide variant not provided [RCV000992353] ChrMT:7873 [GRCh38]
ChrMT:7873 [GRCh37]
benign
NC_012920.1:m.7954T>C single nucleotide variant not provided [RCV000992354] ChrMT:7954 [GRCh38]
ChrMT:7954 [GRCh37]
benign
NC_012920.1:m.8206G>A single nucleotide variant not provided [RCV000992356] ChrMT:8206 [GRCh38]
ChrMT:8206 [GRCh37]
benign
NC_012920.1:m.8080C>T single nucleotide variant not provided [RCV000992355] ChrMT:8080 [GRCh38]
ChrMT:8080 [GRCh37]
benign
NC_012920.1:m.7698T>C single nucleotide variant Leigh syndrome [RCV000854090] ChrMT:7698 [GRCh38]
ChrMT:7698 [GRCh37]
uncertain significance
NC_012920.1:m.7844A>T single nucleotide variant Leigh syndrome [RCV000854113] ChrMT:7844 [GRCh38]
ChrMT:7844 [GRCh37]
uncertain significance
NC_012920.1:m.7854T>C single nucleotide variant Leigh syndrome [RCV000854116] ChrMT:7854 [GRCh38]
ChrMT:7854 [GRCh37]
benign
NC_012920.1:m.7898T>C single nucleotide variant Leigh syndrome [RCV000854120] ChrMT:7898 [GRCh38]
ChrMT:7898 [GRCh37]
uncertain significance
NC_012920.1:m.7962T>C single nucleotide variant Leigh syndrome [RCV000854129] ChrMT:7962 [GRCh38]
ChrMT:7962 [GRCh37]
uncertain significance
NC_012920.1:m.7980A>G single nucleotide variant Leigh syndrome [RCV000854132] ChrMT:7980 [GRCh38]
ChrMT:7980 [GRCh37]
uncertain significance
NC_012920.1:m.8010T>C single nucleotide variant Leigh syndrome [RCV000854134] ChrMT:8010 [GRCh38]
ChrMT:8010 [GRCh37]
uncertain significance
NC_012920.1:m.8026A>T single nucleotide variant Leigh syndrome [RCV000854138] ChrMT:8026 [GRCh38]
ChrMT:8026 [GRCh37]
benign
NC_012920.1:m.8030C>T single nucleotide variant Leigh syndrome [RCV000854140] ChrMT:8030 [GRCh38]
ChrMT:8030 [GRCh37]
uncertain significance
NC_012920.1:m.8069T>C single nucleotide variant Leigh syndrome [RCV000854143] ChrMT:8069 [GRCh38]
ChrMT:8069 [GRCh37]
uncertain significance
NC_012920.1:m.8265T>C single nucleotide variant Leigh syndrome [RCV000854160] ChrMT:8265 [GRCh38]
ChrMT:8265 [GRCh37]
uncertain significance
NC_012920.1:m.7649A>G single nucleotide variant Leigh syndrome [RCV000854080] ChrMT:7649 [GRCh38]
ChrMT:7649 [GRCh37]
likely benign
NC_012920.1:m.7664G>A single nucleotide variant Leigh syndrome [RCV000854083] ChrMT:7664 [GRCh38]
ChrMT:7664 [GRCh37]
benign
NC_012920.1:m.7673A>G single nucleotide variant Leigh syndrome [RCV000854084] ChrMT:7673 [GRCh38]
ChrMT:7673 [GRCh37]
benign
NC_012920.1:m.7674T>C single nucleotide variant Leigh syndrome [RCV000854085]|not provided [RCV001787119] ChrMT:7674 [GRCh38]
ChrMT:7674 [GRCh37]
likely benign|not provided
NC_012920.1:m.7686T>C single nucleotide variant Leigh syndrome [RCV000854087] ChrMT:7686 [GRCh38]
ChrMT:7686 [GRCh37]
uncertain significance
NC_012920.1:m.7691T>C single nucleotide variant Leigh syndrome [RCV000854088] ChrMT:7691 [GRCh38]
ChrMT:7691 [GRCh37]
benign
NC_012920.1:m.7746A>G single nucleotide variant Leigh syndrome [RCV000854095]|not provided [RCV000992351] ChrMT:7746 [GRCh38]
ChrMT:7746 [GRCh37]
benign|uncertain significance
NC_012920.1:m.7761A>G single nucleotide variant Leigh syndrome [RCV000854099] ChrMT:7761 [GRCh38]
ChrMT:7761 [GRCh37]
likely benign
NC_012920.1:m.7784A>G single nucleotide variant Leigh syndrome [RCV000854102] ChrMT:7784 [GRCh38]
ChrMT:7784 [GRCh37]
likely benign
NC_012920.1:m.7868C>T single nucleotide variant Leigh syndrome [RCV000854118] ChrMT:7868 [GRCh38]
ChrMT:7868 [GRCh37]
uncertain significance
NC_012920.1:m.7904A>G single nucleotide variant Leigh syndrome [RCV000854121] ChrMT:7904 [GRCh38]
ChrMT:7904 [GRCh37]
uncertain significance
NC_012920.1:m.7934A>G single nucleotide variant Leigh syndrome [RCV000854126] ChrMT:7934 [GRCh38]
ChrMT:7934 [GRCh37]
benign
NC_012920.1:m.7943T>C single nucleotide variant Leigh syndrome [RCV000854128] ChrMT:7943 [GRCh38]
ChrMT:7943 [GRCh37]
uncertain significance
NC_012920.1:m.8001A>G single nucleotide variant Leigh syndrome [RCV000854133] ChrMT:8001 [GRCh38]
ChrMT:8001 [GRCh37]
uncertain significance
NC_012920.1:m.8012G>A single nucleotide variant Leigh syndrome [RCV000854135] ChrMT:8012 [GRCh38]
ChrMT:8012 [GRCh37]
uncertain significance
NC_012920.1:m.8084A>T single nucleotide variant Leigh syndrome [RCV000854148] ChrMT:8084 [GRCh38]
ChrMT:8084 [GRCh37]
likely benign
NC_012920.1:m.8258T>C single nucleotide variant Leigh syndrome [RCV000854159] ChrMT:8258 [GRCh38]
ChrMT:8258 [GRCh37]
likely benign
NC_012920.1:m.7608G>A single nucleotide variant Leigh syndrome [RCV000854076] ChrMT:7608 [GRCh38]
ChrMT:7608 [GRCh37]
uncertain significance
NC_012920.1:m.7628C>A single nucleotide variant Leigh syndrome [RCV000854077] ChrMT:7628 [GRCh38]
ChrMT:7628 [GRCh37]
uncertain significance
NC_012920.1:m.7697G>A single nucleotide variant Leigh syndrome [RCV000854089] ChrMT:7697 [GRCh38]
ChrMT:7697 [GRCh37]
benign
NC_012920.1:m.7706G>A single nucleotide variant Leigh syndrome [RCV000854091] ChrMT:7706 [GRCh38]
ChrMT:7706 [GRCh37]
uncertain significance
NC_012920.1:m.7724A>T single nucleotide variant Leigh syndrome [RCV000854094]|not provided [RCV000992350] ChrMT:7724 [GRCh38]
ChrMT:7724 [GRCh37]
benign|uncertain significance
NC_012920.1:m.7751T>G single nucleotide variant Leigh syndrome [RCV000854096] ChrMT:7751 [GRCh38]
ChrMT:7751 [GRCh37]
uncertain significance
NC_012920.1:m.7754G>A single nucleotide variant Leigh syndrome [RCV000854097] ChrMT:7754 [GRCh38]
ChrMT:7754 [GRCh37]
benign
NC_012920.1:m.7775G>A single nucleotide variant Leigh syndrome [RCV000854101] ChrMT:7775 [GRCh38]
ChrMT:7775 [GRCh37]
benign
NC_012920.1:m.7844A>G single nucleotide variant Leigh syndrome [RCV000854114] ChrMT:7844 [GRCh38]
ChrMT:7844 [GRCh37]
benign
NC_012920.1:m.7926G>A single nucleotide variant Leigh syndrome [RCV000854125] ChrMT:7926 [GRCh38]
ChrMT:7926 [GRCh37]
uncertain significance
NC_012920.1:m.7964T>C single nucleotide variant Leigh syndrome [RCV000854130] ChrMT:7964 [GRCh38]
ChrMT:7964 [GRCh37]
benign
NC_012920.1:m.8022T>C single nucleotide variant Leigh syndrome [RCV000854137] ChrMT:8022 [GRCh38]
ChrMT:8022 [GRCh37]
benign
NC_012920.1:m.8078G>A single nucleotide variant Leigh syndrome [RCV000854145] ChrMT:8078 [GRCh38]
ChrMT:8078 [GRCh37]
likely benign
NC_012920.1:m.8187G>A single nucleotide variant Leigh syndrome [RCV000854152] ChrMT:8187 [GRCh38]
ChrMT:8187 [GRCh37]
uncertain significance
NC_012920.1:m.8252C>T single nucleotide variant Leigh syndrome [RCV000854157] ChrMT:8252 [GRCh38]
ChrMT:8252 [GRCh37]
uncertain significance
NC_012920.1:m.8256T>C single nucleotide variant Leigh syndrome [RCV000854158] ChrMT:8256 [GRCh38]
ChrMT:8256 [GRCh37]
likely benign
NC_012920.1:m.7598G>A single nucleotide variant Leigh syndrome [RCV000854074] ChrMT:7598 [GRCh38]
ChrMT:7598 [GRCh37]
benign
NC_012920.1:m.7604G>A single nucleotide variant Leigh syndrome [RCV000854075] ChrMT:7604 [GRCh38]
ChrMT:7604 [GRCh37]
benign
NC_012920.1:m.7650C>T single nucleotide variant Leigh syndrome [RCV000854081] ChrMT:7650 [GRCh38]
ChrMT:7650 [GRCh37]
uncertain significance
NC_012920.1:m.7679T>C single nucleotide variant Leigh syndrome [RCV000854086] ChrMT:7679 [GRCh38]
ChrMT:7679 [GRCh37]
benign
NC_012920.1:m.7757G>A single nucleotide variant Leigh syndrome [RCV000854098] ChrMT:7757 [GRCh38]
ChrMT:7757 [GRCh37]
benign
NC_012920.1:m.7772A>G single nucleotide variant Leigh syndrome [RCV000854100] ChrMT:7772 [GRCh38]
ChrMT:7772 [GRCh37]
likely benign
NC_012920.1:m.7806T>C single nucleotide variant Leigh syndrome [RCV000854107] ChrMT:7806 [GRCh38]
ChrMT:7806 [GRCh37]
uncertain significance
NC_012920.1:m.7925G>A single nucleotide variant Decreased activity of mitochondrial complex IV [RCV001089496]|Leigh syndrome [RCV000854124] ChrMT:7925 [GRCh38]
ChrMT:7925 [GRCh37]
uncertain significance
NC_012920.1:m.7941A>G single nucleotide variant Leigh syndrome [RCV000854127] ChrMT:7941 [GRCh38]
ChrMT:7941 [GRCh37]
likely benign
NC_012920.1:m.8079T>C single nucleotide variant Leigh syndrome [RCV000854146] ChrMT:8079 [GRCh38]
ChrMT:8079 [GRCh37]
uncertain significance
NC_012920.1:m.8108A>G single nucleotide variant Leigh syndrome [RCV000854149] ChrMT:8108 [GRCh38]
ChrMT:8108 [GRCh37]
benign
NC_012920.1:m.8135T>C single nucleotide variant Leigh syndrome [RCV000854150] ChrMT:8135 [GRCh38]
ChrMT:8135 [GRCh37]
uncertain significance
NC_012920.1:m.8237A>G single nucleotide variant Leigh syndrome [RCV000854155] ChrMT:8237 [GRCh38]
ChrMT:8237 [GRCh37]
benign
NC_012920.1:m.8238T>C single nucleotide variant Leigh syndrome [RCV000854156] ChrMT:8238 [GRCh38]
ChrMT:8238 [GRCh37]
uncertain significance
NC_012920.1:m.7718A>G single nucleotide variant Leigh syndrome [RCV000854093] ChrMT:7718 [GRCh38]
ChrMT:7718 [GRCh37]
uncertain significance
NC_012920.1:m.7797T>C single nucleotide variant Leigh syndrome [RCV000854105] ChrMT:7797 [GRCh38]
ChrMT:7797 [GRCh37]
likely benign
NC_012920.1:m.7805G>A single nucleotide variant Leigh syndrome [RCV000854106] ChrMT:7805 [GRCh38]
ChrMT:7805 [GRCh37]
benign
NC_012920.1:m.7808C>T single nucleotide variant Leigh syndrome [RCV000854108] ChrMT:7808 [GRCh38]
ChrMT:7808 [GRCh37]
likely benign
NC_012920.1:m.7853G>A single nucleotide variant Leigh syndrome [RCV000854115] ChrMT:7853 [GRCh38]
ChrMT:7853 [GRCh37]
benign
NC_012920.1:m.7859G>A single nucleotide variant Leigh syndrome [RCV000854117] ChrMT:7859 [GRCh38]
ChrMT:7859 [GRCh37]
benign
NC_012920.1:m.7919G>A single nucleotide variant Leigh syndrome [RCV000854122] ChrMT:7919 [GRCh38]
ChrMT:7919 [GRCh37]
uncertain significance
NC_012920.1:m.7976G>A single nucleotide variant Leigh syndrome [RCV000854131] ChrMT:7976 [GRCh38]
ChrMT:7976 [GRCh37]
uncertain significance
NC_012920.1:m.8021A>G single nucleotide variant Leigh syndrome [RCV000854136] ChrMT:8021 [GRCh38]
ChrMT:8021 [GRCh37]
likely benign
NC_012920.1:m.8027G>A single nucleotide variant Leigh syndrome [RCV000854139] ChrMT:8027 [GRCh38]
ChrMT:8027 [GRCh37]
benign
NC_012920.1:m.8033A>G single nucleotide variant Leigh syndrome [RCV000854141] ChrMT:8033 [GRCh38]
ChrMT:8033 [GRCh37]
uncertain significance
NC_012920.1:m.8060G>A single nucleotide variant Leigh syndrome [RCV000854142] ChrMT:8060 [GRCh38]
ChrMT:8060 [GRCh37]
uncertain significance
NC_012920.1:m.8075G>A single nucleotide variant Leigh syndrome [RCV000854144] ChrMT:8075 [GRCh38]
ChrMT:8075 [GRCh37]
likely benign
NC_012920.1:m.8225A>G single nucleotide variant Leigh syndrome [RCV000854154] ChrMT:8225 [GRCh38]
ChrMT:8225 [GRCh37]
uncertain significance
NC_012920.1:m.7606A>G single nucleotide variant not specified [RCV001288247] ChrMT:7606 [GRCh38]
ChrMT:7606 [GRCh37]
benign
NC_012920.1:m.7645T>C single nucleotide variant not specified [RCV001288248] ChrMT:7645 [GRCh38]
ChrMT:7645 [GRCh37]
benign

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:7421 AgrOrtholog
COSMIC MT-CO2 COSMIC
Ensembl Genes ENSG00000198712 Ensembl, UniProtKB/Swiss-Prot
Ensembl Protein ENSP00000354876 ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000361739 UniProtKB/Swiss-Prot
Gene3D-CATH 1.10.287.90 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  2.60.40.420 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000198712 GTEx
HGNC ID HGNC:7421 ENTREZGENE
Human Proteome Map MT-CO2 Human Proteome Map
InterPro CcO_II-like_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  CcO_II_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Copper_CuA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Cupredoxin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Cyt_c_oxidase_su2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Cyt_c_oxidase_su2_TM_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Cyt_c_oxidase_su2_TM_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:4513 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 4513 ENTREZGENE
OMIM 516040 OMIM
Pfam COX2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  COX2_TM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA31227 PharmGKB
PROSITE COX2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  COX2_CUA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  COX2_TM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF49503 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF81464 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
TIGRFAMs CoxB UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A1X7RBF7_HUMAN UniProtKB/TrEMBL
  COX2_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  U5Z487 ENTREZGENE, UniProtKB/TrEMBL
UniProt Secondary A0A1B0VYS2 UniProtKB/TrEMBL
  Q37526 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-05-19 MT-CO2  mitochondrially encoded cytochrome c oxidase II  COX2    Symbol and/or name change 5135510 APPROVED
2014-01-07 COX2  mitochondrially encoded cytochrome c oxidase II  MT-CO2    Symbol and/or name change 5135510 APPROVED
2012-10-09 MT-CO2  mitochondrially encoded cytochrome c oxidase II  COX2    Symbol and/or name change 5135510 APPROVED
2012-07-13 COX2    MT-CO2  mitochondrially encoded cytochrome c oxidase II  Symbol and/or name change 5135510 APPROVED