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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
External Ids for COX7A2L Gene
- HGNC: 2289
- Entrez Gene: 9167
- Ensembl: ENSG00000115944
- OMIM: 605771
- UniProtKB: O14548
Previous GeneCards Identifiers for COX7A2L Gene
- GC02M042566
- GC02M042746
- GC02M042552
- GC02M042489
Summaries 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).
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
- 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:
-
- 2p21 by HGNC
- 2p21 by Entrez Gene
- 2p21 by Ensembl
COX7A2L Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- Q9P118
Protein attributes for COX7A2L Gene
- Size:
- 114 amino acids
- Molecular mass:
- 12615 Da
- Quaternary structure:
-
- Interacts with the mitochondrial respiratory supercomplex.
Protein Expression for COX7A2L Gene
Post-translational modifications for COX7A2L Gene
Other Protein References for COX7A2L Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- G Biosciences Immunotag™ COX7A2L Antibody
- Creative Diagnostics Anti-COX7A2L monoclonal antibody
-
Custom Antibody ServicesOriGene Antibodies for COX7A2L
- Novus Biologicals Antibodies for COX7A2L
-
Abcam antibodies for COX7A2L
- Invitrogen Antibodies for COX7A2L (AFLGC-COX7A2L)
-
Biorbyt antibodies for COX7A2L
Protein Products
-
OriGene Purified Proteins for COX7A2L
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Abcam proteins for COX7A2L
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- Family:
-
- Belongs to the cytochrome c oxidase VIIa family.
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
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0004129 | cytochrome-c oxidase activity | TAS,IEA | -- |
| GO:0009055 | electron transfer activity | IEA | -- |
Phenotypes for COX7A2L Gene
- MGI mutant phenotypes for COX7A2L:
- inferred from 1 alleles
- GenomeRNAi human phenotypes for COX7A2L:
-
- Decreased BPV1 E2 protein expression
- Increased HPV18 LCR reporter activity
- Effect on mitosis
- Dynamic nuclei (hole, folded or small irregular)
- Decreased viability in esophageal squamous lineage
- Decreased viability
- no effect
- Resistant to vaccinia virus (VACV-A4L) infection
- Decreased human papilloma virus 16 (HPV16) pseudovirus infection
- Increased Sindbis virus (SINV) infection
- Mitotic spindle defects
Animal Model Products
-
Taconic Biosciences Mouse Models for COX7A2L
CRISPR Products
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miRNA for COX7A2L Gene
- miRTarBase miRNAs that target COX7A2L
-
- hsa-mir-26b-5p (MIRT029500)
- hsa-mir-324-3p (MIRT042835)
- hsa-mir-218-5p (MIRT440904)
- hsa-mir-767-5p (MIRT616505)
- hsa-mir-302d-5p (MIRT616506)
- hsa-mir-302b-5p (MIRT616507)
- hsa-mir-6501-3p (MIRT616508)
- hsa-mir-330-3p (MIRT616509)
- hsa-mir-29c-3p (MIRT616510)
- hsa-mir-29b-3p (MIRT616511)
- hsa-mir-29a-3p (MIRT616512)
- hsa-mir-6835-3p (MIRT616513)
miRNA Products
Inhibitory RNA Products
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Cell Line Products
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Horizon Cell Lines for COX7A2L
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.
| Compartment | Confidence |
|---|---|
| mitochondrion | 5 |
| nucleus | 5 |
| plasma membrane | 2 |
| cytosol | 2 |
| extracellular | 1 |
| endoplasmic reticulum | 1 |
- Mitochondria (4)
- Nucleoli (4)
| 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 | -- |
Pathways & Interactions for COX7A2L Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. |
.40
|
|
| 2 | Metabolism |
.40
|
|
| 3 | Gene Expression |
.48
|
|
| 4 | Cardiac muscle contraction | ||
| 5 | TP53 Regulates Metabolic Genes | ||
Pathways by source for COX7A2L Gene
1 BioSystems pathway for COX7A2L Gene
8 KEGG pathways for COX7A2L Gene
Interacting Proteins for COX7A2L Gene
GPS-Prot Interaction Network for COX7A2L
| 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 | -- |
No data available for SIGNOR curated interactions for COX7A2L Gene
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 :
-
- ENST00000234301 2282 bps (ENST00000234301.3)
- ENST00000378669 3056 bps (ENST00000378669.5)
- ENST00000423797 811 bps (ENST00000423797.2)
- ENST00000463055 540 bps (ENST00000463055.1)
- ENST00000464443 895 bps (ENST00000464443.5)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for COX7A2L - Select products 50% OFF >
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-
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miRNA Products
Inhibitory RNA Products
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- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for COX7A2L
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Recommended
| 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 embryonic tissues and stem cells from LifeMap Discovery
- Brain (Nervous System)
- Gut Tube (Gastrointestinal Tract)
- Neural Tube (Nervous System)
- Eye (Sensory Organs)
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
- Elite partner
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for COX7A2L
SOURCE GeneReport for Unigene cluster for COX7A2L Gene:
Hs.339639Evidence 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)
Primer Products
-
OriGene qPCR primer pairs for COX7A2L
-
OriGene qPCR primer pairs and template standards for COX7A2L
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Gene Expression Assay Products
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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | COX7A2L 31 30 |
|
OneToOne | |
| cow (Bos Taurus) |
Mammalia | COX7A2L 31 30 |
|
OneToOne | |
| dog (Canis familiaris) |
Mammalia | COX7A2L 31 30 |
|
OneToOne | |
| mouse (Mus musculus) |
Mammalia | Cox7a2l 17 30 |
|
||
| Gm10242 31 |
|
OneToOne | |||
| rat (Rattus norvegicus) |
Mammalia | Cox7a2l 30 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | COX7A2L 31 |
|
OneToOne | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | COX7A2L 31 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | COX7A2L 31 30 |
|
OneToOne | |
| lizard (Anolis carolinensis) |
Reptilia | COX7A2L 31 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | cox7a2l 30 |
|
||
| Str.8113 30 |
|
||||
| zebrafish (Danio rerio) |
Actinopterygii | cox7a3 31 30 |
|
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
(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
Variants for COX7A2L Gene
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| esv3583758 | CNV | loss | 25503493 |
| nsv524679 | CNV | loss | 19592680 |
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
SNP Genotyping and Copy Number Assay Products
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
- 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
- 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
- Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 41 54
- 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
- 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
ExternalLinks
Products for COX7A2L Gene
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Sources for COX7A2L Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) Cell Signaling Technology
- (12) GO
- (13) UniProtKB/TrEMBL
- (14) InterPro
- (15) ProtoNet
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