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Aliases for COX8A Gene

Aliases for COX8A Gene

  • Cytochrome C Oxidase Subunit 8A 2 3 5
  • Cytochrome C Oxidase Polypeptide VIII-Liver/Heart 3 4
  • Cytochrome C Oxidase Subunit VIIIA (Ubiquitous) 2 3
  • Cytochrome C Oxidase Subunit VIII 2 3
  • Cytochrome C Oxidase Subunit 8-2 3 4
  • COX8L 3 4
  • COX8 3 4
  • Cytochrome C Oxidase Subunit 8A, Mitochondrial 3
  • Cytochrome C Oxidase Subunit 8A (Ubiquitous) 3
  • COX8-2 3
  • VIII-L 3
  • VIII 3
  • COX 3

External Ids for COX8A Gene

Previous HGNC Symbols for COX8A Gene

  • COX8

Previous GeneCards Identifiers for COX8A Gene

  • GC11P063518
  • GC11P063498
  • GC11P063742
  • GC11P060070

Summaries for COX8A Gene

Entrez Gene Summary for COX8A Gene

  • The protein encoded by this gene is the terminal enzyme of the respiratory chain, coupling the transfer of electrons from cytochrome c to molecular oxygen, with the concomitant production of a proton electrochemical gradient across the inner mitochondrial membrane. In addition to 3 mitochondrially encoded subunits, which perform the catalytic function, the eukaryotic enzyme contains nuclear-encoded smaller subunits, ranging in number from 4 in some organisms to 10 in mammals. It has been proposed that nuclear-encoded subunits may be involved in the modulation of the catalytic function. This gene encodes one of the nuclear-encoded subunits. [provided by RefSeq, Jul 2008]

GeneCards Summary for COX8A Gene

COX8A (Cytochrome C Oxidase Subunit 8A) is a Protein Coding gene. Diseases associated with COX8A include Mitochondrial Complex Iv Deficiency and Cardiomyopathy, Familial Hypertrophic, 4. Among its related pathways are Gene Expression and Metabolism. Gene Ontology (GO) annotations related to this gene include cytochrome-c oxidase activity. An important paralog of this gene is ENSG00000256100.

UniProtKB/Swiss-Prot for COX8A 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 COX8A Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for COX8A Gene

Genomics for COX8A Gene

GeneHancer (GH) Regulatory Elements for COX8A Gene

Promoters and enhancers for COX8A 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
GH11J063973 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 650.7 +0.8 777 3 HDGF PKNOX1 CLOCK SMAD1 MLX ARNT ARID4B SIN3A DMAP1 ZNF2 ENSG00000256100 COX8A SF1 PLCB3 TRMT112 ATG2A ENSG00000257086 OTUB1 DNAJC4 NAA40
GH11J063944 Enhancer 1.1 Ensembl ENCODE 12.4 -29.2 -29176 2.3 RB1 ARID4B DEAF1 SIN3A THRB RAD21 RARA ZNF143 ZFP91 THAP11 RNU6-45P COX8A ENSG00000256100 RNU6-1306P ENSG00000256341 OTUB1 NAA40 GC11P063971 GC11P063911 GC11P063909
GH11J063837 Promoter/Enhancer 2.4 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 4.8 -134.0 -134041 6.5 HDGF PKNOX1 ARID4B SIN3A DMAP1 IRF4 YY1 ZNF207 ZNF143 DEK MARK2 SF1 SNHG1 NAA40 RNU6-1306P PLCB3 CCND2P1 COX8A FERMT3 RTN3
GH11J063950 Enhancer 0.9 Ensembl ENCODE 12.4 -22.7 -22696 2.3 CTCF MAX EBF1 POLR2A EED ZNF143 ETV6 IKZF2 RUNX3 CBFB COX8A ENSG00000256100 MARK2 RNU6-1306P SPINDOC MACROD1 ENSG00000256481 ENSG00000256341 ENSG00000257086 PLCB3
GH11J064152 Enhancer 1 Ensembl ENCODE 11 +178.9 178945 1.7 RB1 ARID4B SIN3A ZSCAN9 RAD21 RARA ZNF143 RUNX3 THAP11 DEK TRMT112 TRPT1 STIP1 ENSG00000256341 FLRT1 COX8A ENSG00000256100 RNU6-45P ENSG00000256481 FERMT3
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around COX8A on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the COX8A gene promoter:
  • Zic3
  • AREB6
  • Olf-1
  • Oct-B1
  • oct-B2
  • POU2F1
  • POU2F1a
  • POU2F2
  • POU2F2 (Oct-2.1)
  • POU2F2B

Genomic Locations for COX8A Gene

Genomic Locations for COX8A Gene
chr11:63,974,607-63,976,543
(GRCh38/hg38)
Size:
1,937 bases
Orientation:
Plus strand
chr11:63,742,079-63,744,015
(GRCh37/hg19)
Size:
1,937 bases
Orientation:
Plus strand

Genomic View for COX8A Gene

Genes around COX8A on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
COX8A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for COX8A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for COX8A Gene

Proteins for COX8A Gene

  • Protein details for COX8A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P10176-COX8A_HUMAN
    Recommended name:
    Cytochrome c oxidase subunit 8A, mitochondrial
    Protein Accession:
    P10176
    Secondary Accessions:
    • P15955

    Protein attributes for COX8A Gene

    Size:
    69 amino acids
    Molecular mass:
    7579 Da
    Quaternary structure:
    No Data Available

neXtProt entry for COX8A Gene

Post-translational modifications for COX8A Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for COX8A Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for COX8A Gene

Domains & Families for COX8A Gene

Gene Families for COX8A Gene

Protein Domains for COX8A Gene

Suggested Antigen Peptide Sequences for COX8A Gene

Graphical View of Domain Structure for InterPro Entry

P10176

UniProtKB/Swiss-Prot:

COX8A_HUMAN :
  • Belongs to the cytochrome c oxidase VIII family.
Family:
  • Belongs to the cytochrome c oxidase VIII family.
genes like me logo Genes that share domains with COX8A: view

Function for COX8A Gene

Molecular function for COX8A 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.

Gene Ontology (GO) - Molecular Function for COX8A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004129 cytochrome-c oxidase activity IBA --
GO:0005515 protein binding IPI 25416956
genes like me logo Genes that share ontologies with COX8A: view
genes like me logo Genes that share phenotypes with COX8A: view

Animal Model Products

Clone Products

  • Addgene plasmids for COX8A

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for COX8A Gene

Localization for COX8A Gene

Subcellular locations from UniProtKB/Swiss-Prot for COX8A 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 COX8A gene
Compartment Confidence
mitochondrion 5
plasma membrane 1
extracellular 1
nucleus 1
cytosol 1

Gene Ontology (GO) - Cellular Components for COX8A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IEA --
GO:0005743 mitochondrial inner membrane TAS --
GO:0005751 mitochondrial respiratory chain complex IV IBA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with COX8A: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for COX8A Gene

Pathways & Interactions for COX8A Gene

genes like me logo Genes that share pathways with COX8A: view

Gene Ontology (GO) - Biological Process for COX8A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006091 generation of precursor metabolites and energy TAS 2543673
GO:0006123 mitochondrial electron transport, cytochrome c to oxygen IBA,TAS --
GO:0022900 electron transport chain IEA --
GO:1902600 proton transmembrane transport IBA --
genes like me logo Genes that share ontologies with COX8A: view

No data available for SIGNOR curated interactions for COX8A Gene

Drugs & Compounds for COX8A Gene

(4) Drugs for COX8A 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 COX8A: view

Transcripts for COX8A Gene

mRNA/cDNA for COX8A Gene

(1) REFSEQ mRNAs :
(5) Additional mRNA sequences :
(1333) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for COX8A Gene

Cytochrome c oxidase subunit VIIIA (ubiquitous):
Representative Sequences:

Clone Products

  • Addgene plasmids for COX8A

Alternative Splicing Database (ASD) splice patterns (SP) for COX8A Gene

No ASD Table

Relevant External Links for COX8A Gene

GeneLoc Exon Structure for
COX8A
ECgene alternative splicing isoforms for
COX8A

Expression for COX8A Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for COX8A Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for COX8A Gene

This gene is overexpressed in Nasal epithelium (39.8) and Hair follicle (20.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for COX8A Gene



NURSA nuclear receptor signaling pathways regulating expression of COX8A Gene:

COX8A

SOURCE GeneReport for Unigene cluster for COX8A Gene:

Hs.743989

Evidence on tissue expression from TISSUES for COX8A Gene

  • Heart(4.7)
  • Liver(4.5)
  • Pancreas(4.5)
  • Nervous system(4.1)
  • Muscle(3.3)
  • Lung(3.2)
  • Eye(3.1)
  • Blood(2.4)
  • Kidney(2.3)
  • Stomach(2.2)
  • Thyroid gland(2.1)
  • Adrenal gland(2)
  • Bone marrow(2)
genes like me logo Genes that share expression patterns with COX8A: view

No data available for mRNA differential expression in normal tissues , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for COX8A Gene

Orthologs for COX8A Gene

This gene was present in the common ancestor of mammals.

Orthologs for COX8A Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia COX8A 34 33
  • 98.55 (n)
OneToMany
cow
(Bos Taurus)
Mammalia LOC783202 33
  • 80.68 (n)
COX8A 34
  • 72 (a)
OneToMany
dog
(Canis familiaris)
Mammalia COX8A 34 33
  • 80.19 (n)
ManyToMany
-- 34
  • 65 (a)
ManyToMany
mouse
(Mus musculus)
Mammalia Cox8a 16 34 33
  • 78.74 (n)
rat
(Rattus norvegicus)
Mammalia Cox8a 33
  • 76.81 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 34
  • 44 (a)
OneToMany
Species where no ortholog for COX8A 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)
  • fruit fly (Drosophila melanogaster)
  • 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)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for COX8A Gene

ENSEMBL:
Gene Tree for COX8A (if available)
TreeFam:
Gene Tree for COX8A (if available)
Aminode:
Evolutionary constrained regions (ECRs) for COX8A: view image

Paralogs for COX8A Gene

Paralogs for COX8A Gene

(2) SIMAP similar genes for COX8A Gene using alignment to 1 proteins:

  • COX8A_HUMAN
genes like me logo Genes that share paralogs with COX8A: view

Variants for COX8A Gene

Sequence variations from dbSNP and Humsavar for COX8A Gene

SNP ID Clin Chr 11 pos Variation AA Info Type
rs869025575 pathogenic, Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency 63,976,224(+) G/C splice_acceptor_variant
rs1001707448 -- 63,976,386(+) C/A 3_prime_UTR_variant
rs1002159789 -- 63,976,995(+) /C downstream_transcript_variant
rs1003160916 -- 63,975,289(+) C/T intron_variant
rs1005259418 -- 63,972,788(+) G/A upstream_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for COX8A Gene

Variant ID Type Subtype PubMed ID
esv29993 CNV loss 17803354
nsv1042075 CNV loss 25217958
nsv555181 CNV loss 21841781
nsv951010 CNV deletion 24416366

Variation tolerance for COX8A Gene

Residual Variation Intolerance Score: 60.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.65; 13.85% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for COX8A Gene

Human Gene Mutation Database (HGMD)
COX8A
SNPedia medical, phenotypic, and genealogical associations of SNPs for
COX8A

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for COX8A Gene

Disorders for COX8A Gene

MalaCards: The human disease database

(2) MalaCards diseases for COX8A Gene - From: HGMD, OMIM, ClinVar, Orphanet, and DISEASES

Disorder Aliases PubMed IDs
mitochondrial complex iv deficiency
  • cytochrome c oxidase deficiency
cardiomyopathy, familial hypertrophic, 4
  • cmh4
- elite association - COSMIC cancer census association via MalaCards
Search COX8A in MalaCards View complete list of genes associated with diseases

Additional Disease Information for COX8A

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with COX8A: view

No data available for UniProtKB/Swiss-Prot and Genatlas for COX8A Gene

Publications for COX8A Gene

  1. A gene specifying subunit VIII of human cytochrome c oxidase is localized to chromosome 11 and is expressed in both muscle and non-muscle tissues. (PMID: 2543673) Rizzuto R … Schon EA (The Journal of biological chemistry 1989) 2 3 4 58
  2. Human heart cytochrome c oxidase subunit VIII. Purification and determination of the complete amino acid sequence. (PMID: 2847943) Van Kuilenburg AB … Van Beeumen JJ (FEBS letters 1988) 2 3 4 58
  3. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 44 58
  4. 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 58
  5. A third isoform of cytochrome c oxidase subunit VIII is present in mammals. (PMID: 12909344) Hüttemann M … Grossman LI (Gene 2003) 3 22 58

Products for COX8A Gene

Sources for COX8A Gene

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