Aliases for COX6A2 Gene
Aliases for COX6A2 Gene
External Ids for COX6A2 Gene
- HGNC: 2279
- Entrez Gene: 1339
- Ensembl: ENSG00000156885
- OMIM: 602009
- UniProtKB: Q02221
Previous GeneCards Identifiers for COX6A2 Gene
- GC16U990015
- GC16M031935
- GC16M031435
- GC16M031475
- GC16M031346
- GC16M028999
Summaries for COX6A2 Gene
-
Cytochrome c oxidase (COX), the terminal enzyme of the mitochondrial respiratory chain, catalyzes the electron transfer from reduced cytochrome c to oxygen. It 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 be involved in the regulation and assembly of the complex. This nuclear gene encodes polypeptide 2 (heart/muscle isoform) of subunit VIa, and polypeptide 2 is present only in striated muscles. Polypeptide 1 (liver isoform) of subunit VIa is encoded by a different gene, and is found in all non-muscle tissues. These two polypeptides share 66% amino acid sequence identity. [provided by RefSeq, Jul 2008]
GeneCards Summary for COX6A2 Gene
COX6A2 (Cytochrome C Oxidase Subunit 6A2) 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 Cardiac muscle contraction. Gene Ontology (GO) annotations related to this gene include cytochrome-c oxidase activity. An important paralog of this gene is COX6A1.
UniProtKB/Swiss-Prot for COX6A2 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 COX6A2 Gene
No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for COX6A2 Gene
Genomics for COX6A2 Gene
GeneHancer (GH) Regulatory Elements for COX6A2 Gene
Promoters and enhancers for COX6A2 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 COX6A2 on UCSC Golden Path with GeneCards custom track
- Top Transcription factor binding sites by QIAGEN in the COX6A2 gene promoter:
-
- Elk-1
- GCNF-2
- GCNF-1
- GCNF
- AML1a
- Egr-2
- RSRFC4
- AREB6
- GATA-1
- RORalpha1
Regulatory Element Products
Genomic Locations for COX6A2 Gene
Genomic Locations for COX6A2 Gene
- chr16:31,427,731-31,428,428
- (GRCh38/hg38)
- Size:
- 698 bases
- Orientation:
- Minus strand
- chr16:31,439,052-31,439,967
- (GRCh37/hg19)
- Size:
- 916 bases
- Orientation:
- Minus strand
Genomic View for COX6A2 Gene
Genes around COX6A2 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 16p11.2 by Entrez Gene
- 16p11.2 by HGNC
- 16p11.2 by Ensembl
COX6A2 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 COX6A2 Gene
Proteins for COX6A2 Gene
-
Protein details for COX6A2 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q02221-CX6A2_HUMAN
- Recommended name:
- Cytochrome c oxidase subunit 6A2, mitochondrial
- Protein Accession:
- Q02221
- O00761
- Q6GTW6
Protein attributes for COX6A2 Gene
- Size:
- 97 amino acids
- Molecular mass:
- 10815 Da
- Quaternary structure:
- No Data Available
Protein Expression for COX6A2 Gene
Post-translational modifications for COX6A2 Gene
Other Protein References for COX6A2 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
-
Custom Antibody ServicesOriGene Antibodies for COX6A2
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-
Abcam antibodies for COX6A2
- Invitrogen Antibodies for COX6A2 (AFLGC-COX6A2)
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Protein Products
-
OriGene Purified Proteins for COX6A2
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-
Quality Products:
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Assay Products
No data available for DME Specific Peptides for COX6A2 Gene
Domains & Families for COX6A2 Gene
Gene Families for COX6A2 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Predicted intracellular proteins
- Transporters
Protein Domains for COX6A2 Gene
- Blocks:
- InterPro:
- ProtoNet:
Suggested Antigen Peptide Sequences for COX6A2 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
Q02221- Family:
-
- Belongs to the cytochrome c oxidase subunit 6A family.
Function for COX6A2 Gene
Molecular function for COX6A2 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 VIa2,component of the complex IV,terminal enzyme complex for electron transfert,oxidative phosphorylation (OXPHOS),inner mitochondrial membrane
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0004129 | contributes_to cytochrome-c oxidase activity | IBA | -- |
| GO:0030234 | enzyme regulator activity | IBA | -- |
Phenotypes for COX6A2 Gene
- MGI mutant phenotypes for COX6A2:
- inferred from 1 alleles
- GenomeRNAi human phenotypes for COX6A2:
Animal Models for COX6A2 Gene
- MGI Knock Outs for COX6A2:
-
- Cox6a2 Cox6a2<tm1Djg>
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
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-
CRISPR Products
-
OriGene CRISPR knockouts for COX6A2
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- Applied Biological Materials CRISPR for COX6A2
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for COX6A2
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miRNA for COX6A2 Gene
- miRTarBase miRNAs that target COX6A2
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for COX6A2
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- Overview of 90 available COX6A2 gene related products
Clone Products
- Sino Biological Human cDNA Clone for COX6A2
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- Applied Biological Materials Clones for COX6A2
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Cell Line Products
-
Horizon Cell Lines for COX6A2
No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for COX6A2 Gene
Localization for COX6A2 Gene
Subcellular locations from UniProtKB/Swiss-Prot for COX6A2 Gene
- Mitochondrion inner membrane.
| Compartment | Confidence |
|---|---|
| mitochondrion | 5 |
| plasma membrane | 1 |
| extracellular | 1 |
| nucleus | 1 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005739 | mitochondrion | IEA | -- |
| GO:0005743 | mitochondrial inner membrane | IEA | -- |
| GO:0005751 | mitochondrial respiratory chain complex IV | IBA | -- |
| GO:0016020 | membrane | IEA | -- |
No data available for Subcellular locations from the Human Protein Atlas (HPA) for COX6A2 Gene
Pathways & Interactions for COX6A2 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. |
.40
|
|
| 2 | Cardiac muscle contraction | ||
| 3 | Metabolism | ||
| 4 | AMPK Enzyme Complex Pathway | ||
Pathways by source for COX6A2 Gene
1 BioSystems pathway for COX6A2 Gene
8 KEGG pathways for COX6A2 Gene
1 Qiagen pathway for COX6A2 Gene
Interacting Proteins for COX6A2 Gene
GPS-Prot Interaction Network for COX6A2
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0006091 | generation of precursor metabolites and energy | TAS | 9284905 |
| GO:0006123 | mitochondrial electron transport, cytochrome c to oxygen | IBA | -- |
| GO:0009060 | aerobic respiration | IBA | -- |
| GO:0050790 | regulation of catalytic activity | IEA | -- |
| GO:1902600 | proton transmembrane transport | IEA | -- |
No data available for SIGNOR curated interactions for COX6A2 Gene
Transcripts for COX6A2 Gene
mRNA/cDNA for COX6A2 Gene
- (1) REFSEQ mRNAs :
- (3) Additional mRNA sequences :
- (246) Selected AceView cDNA sequences:
- (2) Ensembl transcripts including schematic representations, and UCSC links where relevant :
-
- ENST00000287490 440 bps (uc002ebx.2)
- ENST00000565462 353 bps (uc059tnc.1)
Unigene Clusters for COX6A2 Gene
CRISPR Products
-
OriGene CRISPR knockouts for COX6A2
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-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for COX6A2
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miRNA Products
Inhibitory RNA Products
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Clone Products
- Sino Biological Human cDNA Clone for COX6A2
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- Applied Biological Materials Clones for COX6A2
-
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Expression for COX6A2 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Testis (Reproductive System)
- Sertoli cells Seminiferous Tubules
- Gut Tube (Gastrointestinal Tract)
- Heart (Cardiovascular System)
-
Skeletal Muscle (Muscoskeletal System)
mRNA differential expression in normal tissues according to GTEx for COX6A2 Gene
This gene is overexpressed in Muscle - Skeletal (x22.1), Heart - Left Ventricle (x19.5), and Heart - Atrial Appendage (x9.9).
This gene is overexpressed in Fetal heart (45.5) and Heart (23.5).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for COX6A2 Gene
- Elite partner
NURSA nuclear receptor signaling pathways regulating expression of COX6A2 Gene:
COX6A2SOURCE GeneReport for Unigene cluster for COX6A2 Gene:
Hs.250760mRNA Expression by UniProt/SwissProt for COX6A2 Gene:
Q02221-CX6A2_HUMAN
Tissue specificity:
Expressed specifically in heart and muscle.
Evidence on tissue expression from TISSUES for COX6A2 Gene
- Muscle(4.8)
- Nervous system(4.1)
- Heart(3.3)
Primer Products
-
OriGene qPCR primer pairs for COX6A2
-
OriGene qPCR primer pairs and template standards for COX6A2
- genomics-online: primer clones - Search results for 90 available COX6A2 gene related products
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Gene Expression Assay Products
No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for COX6A2 Gene
Orthologs for COX6A2 Gene
This gene was present in the common ancestor of animals.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | COX6A2 34 33 |
|
OneToOne | |
| cow (Bos Taurus) |
Mammalia | COX6A2 34 33 |
|
OneToOne | |
| dog (Canis familiaris) |
Mammalia | COX6A2 34 33 |
|
OneToOne | |
| mouse (Mus musculus) |
Mammalia | Cox6a2 16 34 33 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Cox6a2 33 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | COX6A2 34 |
|
OneToOne | |
| zebrafish (Danio rerio) |
Actinopterygii | cox6a2 34 |
|
OneToOne | |
| fruit fly (Drosophila melanogaster) |
Insecta | levy 34 |
|
ManyToMany | |
| CG30093 34 |
|
ManyToMany | |||
| CG14077 34 |
|
ManyToMany | |||
| worm (Caenorhabditis elegans) |
Secernentea | tag-174 34 |
|
OneToMany |
- Species where no ortholog for COX6A2 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)
- 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)
Evolution for COX6A2 Gene
- ENSEMBL:
- Gene Tree for COX6A2 (if available)
- TreeFam:
- Gene Tree for COX6A2 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for COX6A2: view image
Paralogs for COX6A2 Gene
Variants for COX6A2 Gene
| SNP ID | Clin | Chr 16 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs1000630589 | -- | 31,429,958(-) | A/G | upstream_transcript_variant | |
| rs1001390326 | -- | 31,429,241(-) | C/T | upstream_transcript_variant | |
| rs1002278435 | -- | 31,428,922(-) | G/A | upstream_transcript_variant | |
| rs1002300977 | -- | 31,428,388(-) | C/T | 5_prime_UTR_variant | |
| rs1004741423 | -- | 31,430,309(-) | G/A/T | upstream_transcript_variant |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| nsv1066280 | CNV | gain | 25217958 |
| nsv833194 | CNV | loss | 17160897 |
Residual Variation Intolerance Score:
63.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
0.41;
8.91% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for COX6A2 Gene
- SNPedia medical, phenotypic, and genealogical associations of SNPs for
- COX6A2
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for COX6A2 Gene
Disorders for COX6A2 Gene
Additional Disease Information for COX6A2
No disorders were found for COX6A2 Gene.
No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for COX6A2 Gene
Publications for COX6A2 Gene
- Structure of the human gene (COX6A2) for the heart/muscle isoform of cytochrome c oxidase subunit VIa and its chromosomal location in humans, mice, and cattle. (PMID: 9177785) Bachman NJ … Lomax MI (Genomics 1997) 2 3 4 22 58
- Differential expression of genes specifying two isoforms of subunit VIa of human cytochrome c oxidase. (PMID: 1327966) Fabrizi GM … Schon EA (Gene 1992) 2 3 4 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
- HIV-1 Tat protein directly induces mitochondrial membrane permeabilization and inactivates cytochrome c oxidase. (PMID: 22419111) Lecoeur H … Jacotot E (Cell death & disease 2012) 3 58
- Interactions of pathological hallmark proteins: tubulin polymerization promoting protein/p25, beta-amyloid, and alpha-synuclein. (PMID: 21832049) Oláh J … Ovádi J (The Journal of biological chemistry 2011) 3 58
Products for COX6A2 Gene
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Sources for COX6A2 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
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) ASD
- (29) ECgene
- (30) GeneAnnot
- (31) CGAP SAGE
- (32) SOURCE
- (33) HomoloGene
- (34) PanEnsembl
- (35) euGenes
- (36) SGD
- (37) FlyBase
- (38) WormBase
- (39) Pseudogene
- (40) DGV
- (41) dbSNP
- (42) GenAtlas
- (43) HGMD
- (44) GAD
- (45) BGMUT
- (46) HuGE
- (47) Atlas
- (48) Cell Signaling Technology
- (49) GenBank
- (50) H-invDB
- (51) HORDE
- (52) HUGE
- (53) IMGT
- (54) Leiden
- (55) miRBase
- (56) DME
- (57) OriGene
- (58) PubMed
- (59) R&D Systems
- (60) TGDB
- (61) Tocris
- (62) Abcam
- (63) Novus Biologicals
- (64) ProSpec
- (65) Sino Biological
- (66) GenScript
- (67) Qiagen
- (68) Cloud-Clone Corp.
- (69) OCA
- (70) Proteopedia
- (71) MOPED
- (72) neXtProt
- (73) Reactome
- (74) GeneGo (Thomson Reuters)
- (75) fRNAdb
- (76) DISEASES
- (77) SIMAP
- (78) GenomeRNAi
- (79) LifeMap
- (80) miRTarBase
- (81) MalaCards
- (82) Invitrogen
- (83) BitterDB
- (84) Vector BioLabs
- (85) ESI-BIO
- (86) RefSeq
- (87) BioSystems
- (88) MaxQB
- (89) IUPHAR
- (90) BioGPS
- (91) Illumina
- (92) COMPARTMENTS
- (93) HOMER
- (94) PaxDb
- (95) ApexBio
- (96) Addgene
- (97) antibodies-online
- (98) CYP
- (99) NONCODE
- (100) SwitchGear Genomics
- (101) TreeFam
- (102) PathCards
- (103) GeneReviews
- (104) GeneTex
- (105) Taconic Biosciences
- (106) GTEx
- (107) ProteomicsDB
- (108) SCBT
- (109) DGIdb
- (110) ClinicalTrials
- (111) FDA Approved Drugs
- (112) RVIS
- (113) SIGNOR
- (114) diseasecard
- (115) NIH Rare Diseases
- (116) Orphanet
- (117) UMLS
- (118) GTR
- (119) Disease Ontology
- (120) Genetics Home Reference
- (121) MeSH
- (122) MedlinePlus
- (123) CDC
- (124) NINDS
- (125) NCBI Bookshelf
- (126) ClinVar
- (127) Gene Damage Index
- (128) ViGene Biosciences
- (129) HPO
- (130) UDN
- (131) VISTA
- (132) FANTOM5
- (133) ENCODE
- (134) ProSci
- (135) Horizon
- (136) NURSA
- (137) IID
- (138) Cyagen
- (139) VectorBuilder
- (140) SNPedia
- (141) BRCA Exchange
- (142) St John's Lab
- (143) CIViC
- (144) ProteoGenix
- (145) dbSUPER
- (146) TISSUES
- (147) Gene ORGANizer
- (148) abm
- (149) CrownBio
- (150) Human Protein Atlas
- (151) GWAS Catalog
- (152) Monarch Initiative
- (153) DataMed
- (154) HumanCyc
- (155) genomics-online
- (156) UCNEbase
- (157) EPDnew
- (158) Applied Biosystems
- (159) GlyConnect
- (160) Aminode
- (161) GeneCopoeia
- (162) GPS-Prot
- (163) RNACentral
- (164) LncRNADisease
- (165) LOVD
- (166) miR2Disease
- (167) DiseaseEnhancer
- (168) Boster Bio
- (169) Biorbyt