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Aliases for COX7A2 Gene

Aliases for COX7A2 Gene

  • Cytochrome C Oxidase Subunit 7A2 2 3 5
  • Cytochrome C Oxidase Subunit VIIa Polypeptide 2 (Liver) 2 3
  • Cytochrome C Oxidase Subunit VIIa-Liver/Heart 3 4
  • Cytochrome C Oxidase Subunit VIIa-L 3 4
  • Cytochrome C Oxidase Subunit VIIaL 3 4
  • COX7AL 3 4
  • Cytochrome C Oxidase Polypeptide 7A2, Mitochondrial 3
  • Cytochrome C Oxidase Polypeptide VIIa-Liver/Heart 3
  • Cytochrome C Oxidase Subunit 7A2, Mitochondrial 3
  • Hepatic Cytochrome-C Oxidase Chain VIIa 3
  • COXVIIa-L 3
  • COXVIIAL 3
  • COX7AL1 3
  • VIIAL 3

External Ids for COX7A2 Gene

Previous GeneCards Identifiers for COX7A2 Gene

  • GC06M075895
  • GC06M075943
  • GC06M076004
  • GC06M075947
  • GC06M073146

Summaries for COX7A2 Gene

Entrez Gene Summary for COX7A2 Gene

  • Cytochrome c oxidase, the terminal component of the mitochondrial respiratory chain, catalyzes the electron transfer from reduced cytochrome c to oxygen. This component is a heteromeric complex consisting of three catalytic subunits encoded by mitochondrial genes, and multiple structural subunits encoded by nuclear genes. The mitochondrially-encoded subunits function in electron transfer, while the nuclear-encoded subunits may function in the regulation and assembly of the complex. This nuclear gene encodes polypeptide 2 (liver isoform) of subunit VIIa, with this polypeptide being present in both muscle and non-muscle tissues. In addition to polypeptide 2, subunit VIIa includes polypeptide 1 (muscle isoform), which is present only in muscle tissues, and a related protein, which is present in all tissues. Alternative splicing results in multiple transcript variants. Related pseudogenes have been identified on chromosomes 4 and 14. [provided by RefSeq, Oct 2009]

GeneCards Summary for COX7A2 Gene

COX7A2 (Cytochrome C Oxidase Subunit 7A2) is a Protein Coding gene. Diseases associated with COX7A2 include Barrett's Adenocarcinoma. Among its related pathways are Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. and Cardiac muscle contraction. Gene Ontology (GO) annotations related to this gene include electron transfer activity and cytochrome-c oxidase activity. An important paralog of this gene is COX7A1.

UniProtKB/Swiss-Prot for COX7A2 Gene

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

Gene Wiki entry for COX7A2 Gene

Additional gene information for COX7A2 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for COX7A2 Gene

Genomics for COX7A2 Gene

GeneHancer (GH) Regulatory Elements for COX7A2 Gene

Promoters and enhancers for COX7A2 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
GH06J075242 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 650.4 +11.2 11158 2.7 PKNOX1 CLOCK SMAD1 ARNT ARID4B SIN3A DMAP1 ZNF2 ZBTB7B IRF4 COX7A2 TMEM30A SENP6 LOC100506804 FILIP1 COL12A1
GH06J075217 Enhancer 1.4 FANTOM5 Ensembl ENCODE dbSUPER 11.9 +37.6 37582 0.6 MEIS2 ZBTB21 JUN BATF HIC1 ZNF335 EGR1 ZNF366 ATF7 KLF8 COX7A2 COL12A1
GH06J075211 Enhancer 0.7 Ensembl ENCODE 11.2 +42.5 42546 1.5 CTCF HNF4A ZNF444 ATF2 TRIM28 COX7A2 COL12A1
GH06J075526 Enhancer 0.6 ENCODE 10.6 -271.8 -271815 0.2 CTCF ZNF654 TRIM22 CEBPB MNT REST BMI1 CEBPG RAD21 ARID2 FILIP1 LOC100506804 TMEM30A RPL26P20 RNU1-34P COX7A2 GC06P075549
GH06J075280 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 0.3 -28.7 -28721 6.1 HDGF PKNOX1 SMAD1 ARNT ARID4B SIN3A FEZF1 DMAP1 IRF4 YY1 TMEM30A LOC100506804 FILIP1 SENP6 RNU6-1016P COX7A2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around COX7A2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the COX7A2 gene promoter:

Genomic Locations for COX7A2 Gene

Genomic Locations for COX7A2 Gene
chr6:75,237,675-75,254,885
(GRCh38/hg38)
Size:
17,211 bases
Orientation:
Minus strand
chr6:75,947,391-75,960,039
(GRCh37/hg19)

Genomic View for COX7A2 Gene

Genes around COX7A2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
COX7A2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for COX7A2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for COX7A2 Gene

Proteins for COX7A2 Gene

  • Protein details for COX7A2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P14406-CX7A2_HUMAN
    Recommended name:
    Cytochrome c oxidase subunit 7A2, mitochondrial
    Protein Accession:
    P14406
    Secondary Accessions:
    • B2R5E1
    • Q3MIH5
    • Q5TF59
    • Q6FGI2

    Protein attributes for COX7A2 Gene

    Size:
    83 amino acids
    Molecular mass:
    9396 Da
    Quaternary structure:
    • Interacts with PET100.
    SequenceCaution:
    • Sequence=CAI19899.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

neXtProt entry for COX7A2 Gene

Post-translational modifications for COX7A2 Gene

  • Ubiquitination at Lys46
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for COX7A2 Gene

Domains & Families for COX7A2 Gene

Gene Families for COX7A2 Gene

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

Protein Domains for COX7A2 Gene

Graphical View of Domain Structure for InterPro Entry

P14406

UniProtKB/Swiss-Prot:

CX7A2_HUMAN :
  • Belongs to the cytochrome c oxidase VIIa family.
Family:
  • Belongs to the cytochrome c oxidase VIIa family.
genes like me logo Genes that share domains with COX7A2: view

Function for COX7A2 Gene

Molecular function for COX7A2 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 VIIa,polypeptide 2,liver,pseudogene,

Phenotypes From GWAS Catalog for COX7A2 Gene

Gene Ontology (GO) - Molecular Function for COX7A2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004129 cytochrome-c oxidase activity IEA --
GO:0009055 electron transfer activity IEA --
genes like me logo Genes that share ontologies with COX7A2: view
genes like me logo Genes that share phenotypes with COX7A2: view

Animal Model Products

miRNA for COX7A2 Gene

miRTarBase miRNAs that target COX7A2

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for COX7A2 Gene

Localization for COX7A2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for COX7A2 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 COX7A2 gene
Compartment Confidence
extracellular 5
mitochondrion 5
nucleus 1

Gene Ontology (GO) - Cellular Components for COX7A2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IEA --
GO:0005743 mitochondrial inner membrane IEA --
GO:0005746 mitochondrial respiratory chain IEA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with COX7A2: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for COX7A2 Gene

Pathways & Interactions for COX7A2 Gene

genes like me logo Genes that share pathways with COX7A2: view

Pathways by source for COX7A2 Gene

Gene Ontology (GO) - Biological Process for COX7A2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0022900 electron transport chain IEA --
GO:1902600 proton transmembrane transport IEA --
genes like me logo Genes that share ontologies with COX7A2: view

No data available for SIGNOR curated interactions for COX7A2 Gene

Drugs & Compounds for COX7A2 Gene

(2) Drugs for COX7A2 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Oxygen Approved, Vet_approved Pharma 0
Water Approved Pharma 0
genes like me logo Genes that share compounds with COX7A2: view

Transcripts for COX7A2 Gene

mRNA/cDNA for COX7A2 Gene

Unigene Clusters for COX7A2 Gene

Cytochrome c oxidase subunit VIIa polypeptide 2 (liver):
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for COX7A2 Gene

ExUns: 1 ^ 2a · 2b · 2c · 2d ^ 3a · 3b · 3c ^ 4a · 4b ^ 5a · 5b
SP1: - - -
SP2: - - -
SP3: - -
SP4: - -
SP5:

Relevant External Links for COX7A2 Gene

GeneLoc Exon Structure for
COX7A2
ECgene alternative splicing isoforms for
COX7A2

Expression for COX7A2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for COX7A2 Gene

Protein differential expression in normal tissues from HIPED for COX7A2 Gene

This gene is overexpressed in Nasal epithelium (16.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for COX7A2 Gene



Protein tissue co-expression partners for COX7A2 Gene

NURSA nuclear receptor signaling pathways regulating expression of COX7A2 Gene:

COX7A2

SOURCE GeneReport for Unigene cluster for COX7A2 Gene:

Hs.70312

Evidence on tissue expression from TISSUES for COX7A2 Gene

  • Nervous system(4.6)
  • Heart(4.5)
  • Liver(4.5)
  • Blood(4.3)
  • Muscle(2.8)
  • Eye(2.3)
  • Kidney(2)
  • Stomach(2)
genes like me logo Genes that share expression patterns with COX7A2: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for COX7A2 Gene

Orthologs for COX7A2 Gene

This gene was present in the common ancestor of chordates.

Orthologs for COX7A2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia COX7A2 34 33
  • 99.42 (n)
OneToOne
dog
(Canis familiaris)
Mammalia LOC611134 33
  • 89.96 (n)
COX7A2 34
  • 49 (a)
OneToOne
cow
(Bos Taurus)
Mammalia COX7A2 34 33
  • 88.76 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Cox7a2 16 34 33
  • 80.72 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia COX7A2 34
  • 75 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia COX7A2 34
  • 66 (a)
OneToOne
chicken
(Gallus gallus)
Aves COX7A2 34 33
  • 74.3 (n)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia cox7a2 33
  • 71.49 (n)
Str.16408 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.7570 33
zebrafish
(Danio rerio)
Actinopterygii cox7a2a 34 33
  • 58.63 (n)
OneToMany
CABZ01013938.1 34
  • 57 (a)
OneToMany
Species where no ortholog for COX7A2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • 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)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • 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)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for COX7A2 Gene

ENSEMBL:
Gene Tree for COX7A2 (if available)
TreeFam:
Gene Tree for COX7A2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for COX7A2: view image

Paralogs for COX7A2 Gene

Paralogs for COX7A2 Gene

(52) SIMAP similar genes for COX7A2 Gene using alignment to 8 proteins:

  • CX7A2_HUMAN
  • D6R9C3_HUMAN
  • D6RA35_HUMAN
  • D6RGV5_HUMAN
  • D6RIE3_HUMAN
  • H0UI06_HUMAN
  • H0Y8S6_HUMAN
  • Q496I0_HUMAN

Pseudogenes.org Pseudogenes for COX7A2 Gene

genes like me logo Genes that share paralogs with COX7A2: view

Variants for COX7A2 Gene

Sequence variations from dbSNP and Humsavar for COX7A2 Gene

SNP ID Clin Chr 06 pos Variation AA Info Type
rs1000423744 -- 75,243,162(-) T/C intron_variant
rs1001183423 -- 75,243,657(-) C/A intron_variant
rs1001671718 -- 75,238,068(-) T/C intron_variant
rs1002114334 -- 75,237,304(-) GG/G downstream_transcript_variant
rs1002205914 -- 75,237,534(-) G/A downstream_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for COX7A2 Gene

Variant ID Type Subtype PubMed ID
nsv603762 CNV loss 21841781
nsv603763 CNV loss 21841781

Variation tolerance for COX7A2 Gene

Residual Variation Intolerance Score: 59.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.23; 24.58% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for COX7A2 Gene

Human Gene Mutation Database (HGMD)
COX7A2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
COX7A2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for COX7A2 Gene

Disorders for COX7A2 Gene

MalaCards: The human disease database

(1) MalaCards diseases for COX7A2 Gene - From: HGMD, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
barrett's adenocarcinoma
  • adenocarcinoma arising in barrett's mucosa
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for COX7A2

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 COX7A2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for COX7A2 Gene

Publications for COX7A2 Gene

  1. Isolation and sequence of the human cytochrome c oxidase subunit VIIaL gene. (PMID: 11004498) Hüttemann M … Kadenbach B (Biochimica et biophysica acta 2000) 3 4 22 58
  2. Tissue-specific expression and chromosome assignment of genes specifying two isoforms of subunit VIIa of human cytochrome c oxidase. (PMID: 1327965) Arnaudo E … Schon EA (Gene 1992) 2 3 22 58
  3. Iterative orthology prediction uncovers new mitochondrial proteins and identifies C12orf62 as the human ortholog of COX14, a protein involved in the assembly of cytochrome c oxidase. (PMID: 22356826) Szklarczyk R … Huynen MA (Genome biology 2012) 3 4 58
  4. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 44 58
  5. Polymorphisms in mitochondrial genes and prostate cancer risk. (PMID: 19064571) Wang L … Thibodeau SN (Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology 2008) 3 44 58

Products for COX7A2 Gene

Sources for COX7A2 Gene

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