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 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 , fRNAdb sequence ontologies 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 dump
GeneHancers around COX7A2L on UCSC Golden Path with GeneCards custom track
Regulatory Element Products
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)
Genomic View for COX7A2L Gene
Genes around COX7A2L on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 2p21 by Ensembl
- 2p21 by Entrez Gene
- 2p21 by HGNC
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
No Post-translational modifications
Other Protein References for COX7A2L Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
-
Custom Antibody ServicesOriGene Antibodies for COX7A2L
- Novus Biologicals Antibodies for COX7A2L
-
Abcam antibodies for COX7A2L
- Invitrogen Antibodies for COX7A2L
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Protein Products
-
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-
Abcam proteins for COX7A2L
Assay Products
No data available for DME Specific Peptides for COX7A2L Gene
Domains & Families for COX7A2L Gene
Gene Families for COX7A2L Gene
- Human Protein Atlas (HPA):
-
- Predicted intracellular proteins
- Predicted membrane proteins
Protein Domains for COX7A2L Gene
- InterPro:
- Blocks:
- ProtoNet:
Suggested Antigen Peptide Sequences for COX7A2L Gene
- GenScript: Design optimal peptide antigens:
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 | IEA | -- |
| GO:0009055 | electron transfer activity | IEA | -- |
Phenotypes for COX7A2L Gene
- GenomeRNAi human phenotypes for COX7A2L:
-
- Mitotic spindle defects
- Decreased viability in esophageal squamous lineage
- Dynamic nuclei (hole, folded or small irregular)
- Decreased human papilloma virus 16 (HPV16) pseudovirus infection
- Resistant to vaccinia virus (VACV-A4L) infection
- Effect on mitosis
- Increased HPV18 LCR reporter activity
- Increased Sindbis virus (SINV) infection
- Decreased BPV1 E2 protein expression
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-
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-
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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
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Clone Products
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-
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- Mammalian expression: PiggyBac
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- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
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- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Applied Biological Materials Clones for COX7A2L
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Cell Line Products
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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 |
- 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. | ||
| 2 | Gene Expression |
.48
|
|
| 3 | Cardiac muscle contraction | ||
| 4 | Metabolism |
.37
|
|
| 5 | TP53 Regulates Metabolic Genes | ||
Pathways by source for COX7A2L Gene
1 BioSystems pathway for COX7A2L Gene
6 KEGG pathways for COX7A2L Gene
Interacting Proteins for COX7A2L Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0006123 | mitochondrial electron transport, cytochrome c to oxygen | TAS | -- |
| GO:0022900 | electron transport chain | IEA | -- |
| GO:1902600 | hydrogen ion 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 :
- (8) Additional mRNA sequences :
- (511) Selected AceView cDNA sequences:
- (8) Ensembl transcripts including schematic representations, and UCSC links where relevant :
Unigene Clusters for COX7A2L Gene
CRISPR Products
-
OriGene CRISPR knockouts for COX7A2L
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Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for COX7A2L
- GenScript: Design CRISPR guide RNA sequences for COX7A2L
miRNA Products
- Search ViGene Biosciences for COX7A2L
Inhibitory RNA Products
- Origene shrna and RNAi products in human, mouse, rat for COX7A2L
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- Overview of 142 available ANKS1B gene related products
-
ViGene Biosciences ready-to-package AAV shRNAs for COX7A2L gene
Clone Products
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- VectorBuilder custom plasmid, inducible vectors for COX7A2L
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-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Applied Biological Materials Clones for COX7A2L
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
| ExUns: | 1a | · | 1b | ^ | 2a | · | 2b | · | 2c | · | 2d | · | 2e | ^ | 3 | ^ | 4a | · | 4b | ^ | 5a | · | 5b | · | 5c |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | - | - | ||||||||||||||||||||||
| SP2: | - | - | - | ||||||||||||||||||||||
| SP3: | - | ||||||||||||||||||||||||
| SP4: | - | - | - | - | - | - | - | ||||||||||||||||||
| SP5: | - | ||||||||||||||||||||||||
| SP6: | - | - |
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, PaxDb, MaxQB, and MOPED for COX7A2L Gene
- Elite partner
NURSA nuclear receptor signaling pathways regulating expression of COX7A2L Gene:
COX7A2LSOURCE 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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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 33 34 |
|
||
| cow (Bos Taurus) |
Mammalia | COX7A2L 33 34 |
|
||
| dog (Canis familiaris) |
Mammalia | COX7A2L 33 34 |
|
||
| mouse (Mus musculus) |
Mammalia | Cox7a2l 33 16 |
|
||
| Gm10242 34 |
|
OneToOne | |||
| rat (Rattus norvegicus) |
Mammalia | Cox7a2l 33 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | COX7A2L 34 |
|
OneToOne | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | COX7A2L 34 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | COX7A2L 33 34 |
|
||
| lizard (Anolis carolinensis) |
Reptilia | COX7A2L 34 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | cox7a2l 33 |
|
||
| Str.8113 33 |
|
||||
| zebrafish (Danio rerio) |
Actinopterygii | cox7a3 33 34 |
|
||
| wufp89f04 33 |
|
- 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)
Paralogs for COX7A2L Gene
(3) SIMAP similar genes for COX7A2L Gene using alignment to 5 proteins:
Pseudogenes.org Pseudogenes for COX7A2L Gene
Variants for COX7A2L Gene
| SNP ID | Clin | Chr 02 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs1000016509 | -- | 42,348,261(-) | A/G | genic_downstream_transcript_variant, intron_variant | |
| rs1000147526 | -- | 42,343,292(-) | C/T | genic_downstream_transcript_variant, intron_variant | |
| rs1000197278 | -- | 42,348,352(-) | G/C | genic_downstream_transcript_variant, intron_variant | |
| rs1000246684 | -- | 42,338,381(-) | TAG/ | genic_downstream_transcript_variant, intron_variant | |
| rs1000292515 | -- | 42,359,796(-) | A/C | intron_variant, non_coding_transcript_variant |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| nsv524679 | CNV | loss | 19592680 |
| esv3583758 | CNV | loss | 25503493 |
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
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot 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 22 58
- Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 44 58
- 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 44 58
- 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
- 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
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- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
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Sources for COX7A2L Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
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