Cytochrome c oxidase (COX), the terminal enzyme of the mitochondrial respiratory chain, catalyzes the electron transfer from reduced cytochrome c to oxygen. It is a heteromeric complex consisting of 3 catalytic subunits encoded by mitochondrial genes and multiple structural subunits encoded by nuclear genes. The mitochondrially-encoded subunits function in electron transfer, an... See more...

Aliases for COX6A2 Gene

Aliases for COX6A2 Gene

  • Cytochrome C Oxidase Subunit 6A2 2 3 5
  • Cytochrome C Oxidase Subunit 6A2, Mitochondrial 3 4
  • Cytochrome C Oxidase Subunit VIa Polypeptide 2 2 3
  • Cytochrome C Oxidase Polypeptide VIa-Heart 3 4
  • Cytochrome C Oxidase Subunit VIA-Muscle 3 4
  • COX VIa-M 3 4
  • COXVIAH 3 4
  • COX6AH 3 4
  • COX6A 4

External Ids for COX6A2 Gene

Previous GeneCards Identifiers for COX6A2 Gene

  • GC16U990015
  • GC16M031935
  • GC16M031435
  • GC16M031475
  • GC16M031346
  • GC16M028999

Summaries for COX6A2 Gene

Entrez Gene Summary for COX6A2 Gene

  • Cytochrome c oxidase (COX), the terminal enzyme of the mitochondrial respiratory chain, catalyzes the electron transfer from reduced cytochrome c to oxygen. It is a heteromeric complex consisting of 3 catalytic subunits encoded by mitochondrial genes and multiple structural subunits encoded by nuclear genes. The mitochondrially-encoded subunits function in electron transfer, and the nuclear-encoded subunits may be involved in the regulation and assembly of the complex. This nuclear gene encodes polypeptide 2 (heart/muscle isoform) of subunit VIa, and polypeptide 2 is present only in striated muscles. Polypeptide 1 (liver isoform) of subunit VIa is encoded by a different gene, and is found in all non-muscle tissues. These two polypeptides share 66% amino acid sequence identity. [provided by RefSeq, Jul 2008]

GeneCards Summary for COX6A2 Gene

COX6A2 (Cytochrome C Oxidase Subunit 6A2) is a Protein Coding gene. Diseases associated with COX6A2 include Mitochondrial Complex Iv Deficiency and Fatal Infantile Cardioencephalomyopathy Due To Cytochrome C Oxidase Deficiency. Among its related pathways are Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. and Metabolism. Gene Ontology (GO) annotations related to this gene include cytochrome-c oxidase activity. An important paralog of this gene is COX6A1.

UniProtKB/Swiss-Prot Summary for COX6A2 Gene

  • This protein is one of the nuclear-coded polypeptide chains of cytochrome c oxidase, the terminal oxidase in mitochondrial electron transport.

Additional gene information for COX6A2 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for COX6A2 Gene

Genomics for COX6A2 Gene

GeneHancer (GH) Regulatory Elements for COX6A2 Gene

Promoters and enhancers for COX6A2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH16J031427 Promoter/Enhancer 1.5 EPDnew Ensembl ENCODE dbSUPER 500.7 -1.0 -981 4.5 NRF1 USF1 ZNF740 MYC FOS MAX ZNF592 E2F6 MNT HDAC2 COX6A2 ENSG00000277543 NONHSAG019153.2 lnc-COX6A2-1 ENSG00000260740 ARMC5 PYDC1 PRSS8 PYCARD PRSS36
GH16J031404 Promoter/Enhancer 1.2 Ensembl ENCODE 12.9 +24.1 24073 1.9 TCF12 PCBP1 WT1 ZNF316 NFIC SP2 ZBTB17 GABPA POLR2A ZNF76 ENSG00000260757 COX6A2 ARMC5 PRSS8 PRSS36 PYCARD STX4 STX1B ENSG00000260740 ZNF843
GH16J031382 Enhancer 1 Ensembl ENCODE 11.9 +43.0 43027 6 CTCF SIN3A ZIC2 POLR2A GABPA REST RFX1 ZBTB25 RAD21 TRIM22 lnc-ITGAX-5 ITGAX COX6A2 PYCARD PYDC1 ARMC5 HSD3B7 SETD1A PRSS36 STX4
GH16J031399 Promoter 0.6 Ensembl 12.9 +28.1 28127 0.2 SPI1 GABPA POLR2A MYC MAX COX6A2 ARMC5 PRSS8 PRSS36 PYCARD STX4 STX1B ENSG00000260757 ITGAD
GH16J031390 Enhancer 0.5 Ensembl 11.5 +37.3 37327 1.4 ZNF316 MAFF MAFK MAFG HNF4A EMSY HSD3B7 ITGAX COX6A2 PYCARD SETD1A PRSS36 STX4 STX1B ZNF843 ITGAD
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around COX6A2 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for COX6A2

Top Transcription factor binding sites by QIAGEN in the COX6A2 gene promoter:
  • AML1a
  • AREB6
  • Egr-2
  • Elk-1
  • GATA-1
  • GCNF
  • GCNF-1
  • GCNF-2
  • RORalpha1
  • RSRFC4

Genomic Locations for COX6A2 Gene

Genomic Locations for COX6A2 Gene
chr16:31,427,731-31,428,428
(GRCh38/hg38)
Size:
698 bases
Orientation:
Minus strand
chr16:31,439,052-31,439,967
(GRCh37/hg19)
Size:
916 bases
Orientation:
Minus strand

Genomic View for COX6A2 Gene

Genes around COX6A2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
COX6A2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for COX6A2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for COX6A2 Gene

Proteins for COX6A2 Gene

  • Protein details for COX6A2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q02221-CX6A2_HUMAN
    Recommended name:
    Cytochrome c oxidase subunit 6A2, mitochondrial
    Protein Accession:
    Q02221
    Secondary Accessions:
    • O00761
    • Q6GTW6

    Protein attributes for COX6A2 Gene

    Size:
    97 amino acids
    Molecular mass:
    10815 Da
    Quaternary structure:
    No Data Available

neXtProt entry for COX6A2 Gene

Post-translational modifications for COX6A2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for COX6A2 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for COX6A2 Gene

Domains & Families for COX6A2 Gene

Gene Families for COX6A2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Transporters

Protein Domains for COX6A2 Gene

Blocks:
  • Cytochrome c oxidase, subunit VIa
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for COX6A2 Gene

GenScript: Design optimal peptide antigens:
  • Cytochrome c oxidase subunit VIA-muscle (CX6A2_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q02221

UniProtKB/Swiss-Prot:

CX6A2_HUMAN :
  • Belongs to the cytochrome c oxidase subunit 6A family.
Family:
  • Belongs to the cytochrome c oxidase subunit 6A family.
genes like me logo Genes that share domains with COX6A2: view

Function for COX6A2 Gene

Molecular function for COX6A2 Gene

UniProtKB/Swiss-Prot Function:
This protein is one of the nuclear-coded polypeptide chains of cytochrome c oxidase, the terminal oxidase in mitochondrial electron transport.
GENATLAS Biochemistry:
cytochrome c oxidase,subunit VIa2,component of the complex IV,terminal enzyme complex for electron transfert,oxidative phosphorylation (OXPHOS),inner mitochondrial membrane

Phenotypes From GWAS Catalog for COX6A2 Gene

Gene Ontology (GO) - Molecular Function for COX6A2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004129 contributes_to cytochrome-c oxidase activity IBA 21873635
GO:0030234 enzyme regulator activity IBA 21873635
genes like me logo Genes that share ontologies with COX6A2: view
genes like me logo Genes that share phenotypes with COX6A2: view

Animal Models for COX6A2 Gene

MGI Knock Outs for COX6A2:

Animal Model Products

CRISPR Products

miRNA for COX6A2 Gene

miRTarBase miRNAs that target COX6A2

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for COX6A2 Gene

Localization for COX6A2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for COX6A2 Gene

Mitochondrion inner membrane.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for COX6A2 gene
Compartment Confidence
mitochondrion 5
plasma membrane 2
nucleus 2
extracellular 1
cytoskeleton 1
peroxisome 1
endoplasmic reticulum 1
cytosol 1

Gene Ontology (GO) - Cellular Components for COX6A2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IEA --
GO:0005743 mitochondrial inner membrane IEA --
GO:0005751 mitochondrial respiratory chain complex IV IBA 21873635
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with COX6A2: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for COX6A2 Gene

Pathways & Interactions for COX6A2 Gene

genes like me logo Genes that share pathways with COX6A2: view

Pathways by source for COX6A2 Gene

1 Qiagen pathway for COX6A2 Gene
  • AMPK Enzyme Complex Pathway

Gene Ontology (GO) - Biological Process for COX6A2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006091 generation of precursor metabolites and energy TAS 9284905
GO:0006123 mitochondrial electron transport, cytochrome c to oxygen IBA 21873635
GO:0009060 aerobic respiration IBA 21873635
GO:0050790 regulation of catalytic activity IEA --
GO:1902600 proton transmembrane transport IEA --
genes like me logo Genes that share ontologies with COX6A2: view

No data available for SIGNOR curated interactions for COX6A2 Gene

Drugs & Compounds for COX6A2 Gene

(4) Drugs for COX6A2 Gene - From: DrugBank and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
cholic acid Approved Pharma Full agonist, Agonist, Target 0
Oxygen Approved, Vet_approved Pharma 0
Water Approved Pharma 0
N-Formylmethionine Experimental Pharma Target 0
genes like me logo Genes that share compounds with COX6A2: view

Transcripts for COX6A2 Gene

mRNA/cDNA for COX6A2 Gene

1 REFSEQ mRNAs :
5 NCBI additional mRNA sequence :
2 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for COX6A2 Gene

No ASD Table

Relevant External Links for COX6A2 Gene

GeneLoc Exon Structure for
COX6A2

Expression for COX6A2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for COX6A2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for COX6A2 Gene

This gene is overexpressed in Muscle - Skeletal (x22.1), Heart - Left Ventricle (x19.5), and Heart - Atrial Appendage (x9.9).

Protein differential expression in normal tissues from HIPED for COX6A2 Gene

This gene is overexpressed in Fetal heart (45.5) and Heart (23.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for COX6A2 Gene



Protein tissue co-expression partners for COX6A2 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for COX6A2

SOURCE GeneReport for Unigene cluster for COX6A2 Gene:

Hs.250760

mRNA Expression by UniProt/SwissProt for COX6A2 Gene:

Q02221-CX6A2_HUMAN
Tissue specificity: Expressed specifically in heart and muscle.

Evidence on tissue expression from TISSUES for COX6A2 Gene

  • Muscle(4.8)
  • Nervous system(4.1)
  • Heart(3.3)
genes like me logo Genes that share expression patterns with COX6A2: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for COX6A2 Gene

Orthologs for COX6A2 Gene

This gene was present in the common ancestor of animals.

Orthologs for COX6A2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia COX6A2 31 30
  • 99.66 (n)
OneToOne
cow
(Bos Taurus)
Mammalia COX6A2 31 30
  • 82.82 (n)
OneToOne
dog
(Canis familiaris)
Mammalia COX6A2 31 30
  • 82.13 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Cox6a2 17 31 30
  • 80.07 (n)
rat
(Rattus norvegicus)
Mammalia Cox6a2 30
  • 78.01 (n)
oppossum
(Monodelphis domestica)
Mammalia COX6A2 31
  • 78 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii cox6a2 31
  • 56 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta levy 31
  • 39 (a)
ManyToMany
CG30093 31
  • 39 (a)
ManyToMany
CG14077 31
  • 11 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea tag-174 31
  • 24 (a)
OneToMany
Species where no ortholog for COX6A2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for COX6A2 Gene

ENSEMBL:
Gene Tree for COX6A2 (if available)
TreeFam:
Gene Tree for COX6A2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for COX6A2: view image

Paralogs for COX6A2 Gene

Paralogs for COX6A2 Gene

(2) SIMAP similar genes for COX6A2 Gene using alignment to 2 proteins:

  • CX6A2_HUMAN
  • H6SG13_HUMAN
genes like me logo Genes that share paralogs with COX6A2: view

Variants for COX6A2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for COX6A2 Gene

SNP ID Clinical significance and condition Chr 16 pos Variation AA Info Type
638271 Pathogenic: Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency 31,428,108(-) G/T MISSENSE_VARIANT
638272 Pathogenic: Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency 31,428,098(-) A/G MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for COX6A2 Gene

Structural Variations from Database of Genomic Variants (DGV) for COX6A2 Gene

Variant ID Type Subtype PubMed ID
nsv1066280 CNV gain 25217958
nsv833194 CNV loss 17160897

Variation tolerance for COX6A2 Gene

Residual Variation Intolerance Score: 63.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.41; 8.91% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for COX6A2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
COX6A2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for COX6A2 Gene

Disorders for COX6A2 Gene

MalaCards: The human disease database

(2) MalaCards diseases for COX6A2 Gene - From: OMIM, ClinVar, Orphanet, and DISEASES

Disorder Aliases PubMed IDs
mitochondrial complex iv deficiency
  • cytochrome c oxidase deficiency
fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency
  • cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for COX6A2

genes like me logo Genes that share disorders with COX6A2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for COX6A2 Gene

Publications for COX6A2 Gene

  1. Structure of the human gene (COX6A2) for the heart/muscle isoform of cytochrome c oxidase subunit VIa and its chromosomal location in humans, mice, and cattle. (PMID: 9177785) Bachman NJ … Lomax MI (Genomics 1997) 2 3 4 23 54
  2. Differential expression of genes specifying two isoforms of subunit VIa of human cytochrome c oxidase. (PMID: 1327966) Fabrizi GM … Schon EA (Gene 1992) 2 3 4 54
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 54
  4. HIV-1 Tat protein directly induces mitochondrial membrane permeabilization and inactivates cytochrome c oxidase. (PMID: 22419111) Lecoeur H … Jacotot E (Cell death & disease 2012) 3 54
  5. Toward an understanding of the protein interaction network of the human liver. (PMID: 21988832) Wang J … Yang X (Molecular systems biology 2011) 3 54

Products for COX6A2 Gene

Sources for COX6A2 Gene