Cytochrome c oxidase (COX), 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 3 catalytic subunits encoded by mitochondrial genes and multiple structural subunits encoded by nuclear genes. The mitochondrially-encoded subunits function in electr... See more...

Aliases for COX7A2L Gene

Aliases for COX7A2L Gene

  • Cytochrome C Oxidase Subunit 7A2 Like 2 3 5
  • Cytochrome C Oxidase Subunit 7A-Related Protein, Mitochondrial 3 4
  • Cytochrome C Oxidase Subunit VIIa Polypeptide 2 Like 2 3
  • Cytochrome C Oxidase Subunit VIIa-Related Protein 3 4
  • COX7a-Related Protein 3 4
  • COX7AR 3 4
  • COX7RP 3 4
  • EB1 3 4
  • Cytochrome C Oxidase Subunit VII-Related Protein 3
  • Estrogen Receptor Binding CpG Island 3
  • SIG81 3

External Ids for COX7A2L Gene

Previous GeneCards Identifiers for COX7A2L Gene

  • GC02M042566
  • GC02M042746
  • GC02M042552
  • GC02M042489

Summaries for COX7A2L Gene

Entrez Gene Summary for COX7A2L Gene

  • Cytochrome c oxidase (COX), 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 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 function in the regulation and assembly of the complex. This nuclear gene encodes a protein similar to polypeptides 1 and 2 of subunit VIIa in the C-terminal region, and also highly similar to the mouse Sig81 protein sequence. This gene is expressed in all tissues, and upregulated in a breast cancer cell line after estrogen treatment. It is possible that this gene represents a regulatory subunit of COX and mediates the higher level of energy production in target cells by estrogen. Several transcript variants, some protein-coding and others non-protein coding, have been found for this gene. [provided by RefSeq, Jan 2016]

GeneCards Summary for COX7A2L Gene

COX7A2L (Cytochrome C Oxidase Subunit 7A2 Like) is a Protein Coding gene. Among its related pathways are Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. and Gene Expression. Gene Ontology (GO) annotations related to this gene include electron transfer activity and cytochrome-c oxidase activity. An important paralog of this gene is COX7A2.

UniProtKB/Swiss-Prot Summary for COX7A2L Gene

  • Involved in the regulation of oxidative phosphorylation and energy metabolism (By similarity). Necessary for the assembly of mitochondrial respiratory supercomplex (By similarity).

Gene Wiki entry for COX7A2L Gene

Additional gene information for COX7A2L Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for COX7A2L Gene

Genomics for COX7A2L Gene

GeneHancer (GH) Regulatory Elements for COX7A2L Gene

Promoters and enhancers for COX7A2L 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
GH02J042358 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 519 +64.3 64292 4 ZBTB40 ZNF217 EP300 SIN3A NRF1 POLR2G USF1 SP1 PHF8 TEAD4 COX7A2L lnc-EML4-10 EML4 lnc-KCNG3-4
GH02J042425 Enhancer 0.5 Ensembl 518.2 -0.7 -713 0.4 CEBPB SOX5 CEBPG EGR2 PPARG SOX13 CEBPA COX7A2L LOC105374537 lnc-COX7A2L-1 KCNG3 MTA3 piR-31089
GH02J042340 Enhancer 1 Ensembl ENCODE 67.1 +82.1 82082 4.1 ZNF217 POLR2G ZFX CLOCK CUX1 SKI TEAD1 ZKSCAN8 GATAD2B CTBP1 COX7A2L EML4 ENSG00000224875 ZFP36L2 lnc-EML4-1 lnc-KCNG3-4
GH02J042168 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 27.9 +253.9 253886 5.2 NRF1 POLR2G USF1 SP1 ZNF10 POLR2A CLOCK ZBTB26 REST USF2 EML4 EML4-AS1 ENSG00000224875 COX7A2L lnc-PKDCC-4
GH02J042249 Enhancer 1.2 FANTOM5 Ensembl ENCODE 45.8 +171.9 171887 8.8 ZSCAN5C POLR2G OSR2 ZNF316 TCF7L2 NR3C1 PBX2 RBM22 NFE2 GATA3 COX7A2L EML4 ENSG00000224875 OXER1 piR-57460-375 lnc-COX7A2L-3 piR-32470-032
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around COX7A2L on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for COX7A2L

Top Transcription factor binding sites by QIAGEN in the COX7A2L gene promoter:
  • aMEF-2
  • AML1a
  • Bach2
  • GATA-1
  • GATA-2
  • GATA-3
  • Ik-2
  • MEF-2A
  • Pax-4a

Genomic Locations for COX7A2L Gene

Genomic Locations for COX7A2L Gene
chr2:42,333,546-42,425,088
(GRCh38/hg38)
Size:
91,543 bases
Orientation:
Minus strand
chr2:42,560,686-42,652,228
(GRCh37/hg19)
Size:
91,543 bases
Orientation:
Minus strand

Genomic View for COX7A2L Gene

Genes around COX7A2L on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
COX7A2L Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for COX7A2L Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for COX7A2L Gene

Proteins for COX7A2L Gene

  • Protein details for COX7A2L Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O14548-COX7R_HUMAN
    Recommended name:
    Cytochrome c oxidase subunit 7A-related protein, mitochondrial
    Protein Accession:
    O14548
    Secondary Accessions:
    • Q9P118

    Protein attributes for COX7A2L Gene

    Size:
    114 amino acids
    Molecular mass:
    12615 Da
    Quaternary structure:
    • Interacts with the mitochondrial respiratory supercomplex.

neXtProt entry for COX7A2L Gene

Post-translational modifications for COX7A2L Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for COX7A2L Gene

Domains & Families for COX7A2L Gene

Gene Families for COX7A2L Gene

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

Protein Domains for COX7A2L Gene

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

Suggested Antigen Peptide Sequences for COX7A2L Gene

GenScript: Design optimal peptide antigens:
  • EB1 (COX7R_HUMAN)
  • cDNA FLJ35592 fis, clone SPLEN2007695, highly similar to Cytochrome c oxidase subunit VIIa-related protein, mitochondrial (Q6FGA0_HUMAN)

Graphical View of Domain Structure for InterPro Entry

O14548

UniProtKB/Swiss-Prot:

COX7R_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 COX7A2L: view

Function for COX7A2L Gene

Molecular function for COX7A2L Gene

UniProtKB/Swiss-Prot Function:
Involved in the regulation of oxidative phosphorylation and energy metabolism (By similarity). Necessary for the assembly of mitochondrial respiratory supercomplex (By similarity).
UniProtKB/Swiss-Prot Induction:
By estrogen.

Phenotypes From GWAS Catalog for COX7A2L Gene

Gene Ontology (GO) - Molecular Function for COX7A2L Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004129 cytochrome-c oxidase activity TAS,IEA --
GO:0009055 electron transfer activity IEA --
genes like me logo Genes that share ontologies with COX7A2L: view
genes like me logo Genes that share phenotypes with COX7A2L: view

Animal Model Products

  • Taconic Biosciences Mouse Models for COX7A2L

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for COX7A2L

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for COX7A2L Gene

Localization for COX7A2L Gene

Subcellular locations from UniProtKB/Swiss-Prot for COX7A2L 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 COX7A2L gene
Compartment Confidence
mitochondrion 5
nucleus 5
plasma membrane 2
cytosol 2
extracellular 1
endoplasmic reticulum 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Mitochondria (4)
  • Nucleoli (4)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for COX7A2L Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005730 nucleolus IDA --
GO:0005739 mitochondrion IEA,IDA --
GO:0005743 mitochondrial inner membrane TAS --
GO:0005746 mitochondrial respiratory chain IEA --
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with COX7A2L: view

Pathways & Interactions for COX7A2L Gene

genes like me logo Genes that share pathways with COX7A2L: view

Gene Ontology (GO) - Biological Process for COX7A2L Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002082 regulation of oxidative phosphorylation IBA 21873635
GO:0006123 mitochondrial electron transport, cytochrome c to oxygen TAS --
GO:0022900 electron transport chain IEA --
GO:0097250 mitochondrial respiratory chain supercomplex assembly IBA 21873635
GO:1902600 proton transmembrane transport IEA --
genes like me logo Genes that share ontologies with COX7A2L: view

No data available for SIGNOR curated interactions for COX7A2L Gene

Drugs & Compounds for COX7A2L Gene

(3) Drugs for COX7A2L Gene - From: HMDB and Novoseek

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 COX7A2L: view

Transcripts for COX7A2L Gene

mRNA/cDNA for COX7A2L Gene

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

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for COX7A2L

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for COX7A2L Gene

ExUns: 1a · 1b ^ 2a · 2b · 2c · 2d · 2e ^ 3 ^ 4a · 4b ^ 5a · 5b · 5c
SP1: - - -
SP2: - - -
SP3: -
SP4: - - - - - - -
SP5: -
SP6: - -

Relevant External Links for COX7A2L Gene

GeneLoc Exon Structure for
COX7A2L

Expression for COX7A2L Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for COX7A2L Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for COX7A2L Gene

This gene is overexpressed in Frontal cortex (10.7) and Peripheral blood mononuclear cells (9.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for COX7A2L Gene



Protein tissue co-expression partners for COX7A2L Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for COX7A2L

SOURCE GeneReport for Unigene cluster for COX7A2L Gene:

Hs.339639

Evidence on tissue expression from TISSUES for COX7A2L Gene

  • Lung(4.5)
  • Nervous system(4.1)
  • Kidney(2.9)
  • Liver(2.2)
  • Adrenal gland(2.1)
genes like me logo Genes that share expression patterns with COX7A2L: view

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for COX7A2L Gene

Orthologs for COX7A2L Gene

This gene was present in the common ancestor of chordates.

Orthologs for COX7A2L Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia COX7A2L 31 30
  • 100 (n)
OneToOne
cow
(Bos Taurus)
Mammalia COX7A2L 31 30
  • 91.23 (n)
OneToOne
dog
(Canis familiaris)
Mammalia COX7A2L 31 30
  • 90.06 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Cox7a2l 17 30
  • 89.79 (n)
Gm10242 31
  • 73 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Cox7a2l 30
  • 87.41 (n)
oppossum
(Monodelphis domestica)
Mammalia COX7A2L 31
  • 86 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia COX7A2L 31
  • 52 (a)
OneToOne
chicken
(Gallus gallus)
Aves COX7A2L 31 30
  • 71.35 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia COX7A2L 31
  • 71 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia cox7a2l 30
  • 71.98 (n)
Str.8113 30
zebrafish
(Danio rerio)
Actinopterygii cox7a3 31 30
  • 64.33 (n)
OneToOne
wufp89f04 30
Species where no ortholog for COX7A2L 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)
  • 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)
  • 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)
  • 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 COX7A2L Gene

ENSEMBL:
Gene Tree for COX7A2L (if available)
TreeFam:
Gene Tree for COX7A2L (if available)
Aminode:
Evolutionary constrained regions (ECRs) for COX7A2L: view image

Paralogs for COX7A2L Gene

Paralogs for COX7A2L Gene

(3) SIMAP similar genes for COX7A2L Gene using alignment to 5 proteins:

  • COX7R_HUMAN
  • E5RFH8_HUMAN
  • E5RJZ1_HUMAN
  • H0YBD2_HUMAN
  • Q6FGA0_HUMAN

Pseudogenes.org Pseudogenes for COX7A2L Gene

genes like me logo Genes that share paralogs with COX7A2L: view

Variants for COX7A2L Gene

Additional dbSNP identifiers (rs#s) for COX7A2L Gene

Structural Variations from Database of Genomic Variants (DGV) for COX7A2L Gene

Variant ID Type Subtype PubMed ID
esv3583758 CNV loss 25503493
nsv524679 CNV loss 19592680

Variation tolerance for COX7A2L Gene

Residual Variation Intolerance Score: 58.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.28; 25.44% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for COX7A2L Gene

Human Gene Mutation Database (HGMD)
COX7A2L
SNPedia medical, phenotypic, and genealogical associations of SNPs for
COX7A2L

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for COX7A2L Gene

Disorders for COX7A2L Gene

Additional Disease Information for COX7A2L

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology

No disorders were found for COX7A2L Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for COX7A2L Gene

Publications for COX7A2L Gene

  1. Isolation of estrogen-responsive genes with a CpG island library. (PMID: 9418891) Watanabe T … Muramatsu M (Molecular and cellular biology 1998) 2 3 4 23 54
  2. Human COX7A2L Regulates Complex III Biogenesis and Promotes Supercomplex Organization Remodeling without Affecting Mitochondrial Bioenergetics. (PMID: 30428348) Lobo-Jarne T … Barrientos A (Cell reports 2018) 2 3 54
  3. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 41 54
  4. Sequential use of transcriptional profiling, expression quantitative trait mapping, and gene association implicates MMP20 in human kidney aging. (PMID: 19834535) Wheeler HE … Kim SK (PLoS genetics 2009) 3 41 54
  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 41 54

Products for COX7A2L Gene

  • Biorbyt antibodies for COX7A2L

Sources for COX7A2L Gene