Set Analyses:
Advanced Search

Advanced Search

 
Search By
Section (entire)
for


 
or upload a file of gene symbols


Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

COX6A2 Gene

protein-coding   GIFtS: 54
GCID: GC16M031439

cytochrome c oxidase subunit VIa polypeptide 2
 Explore 2 diseases affiliated with
COX6A2 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for COX6A2    

Aliases
for COX6A2 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Cytochrome C Oxidase Subunit VIa Polypeptide 21 2     COXVIAH2 3
Cytochrome C Oxidase Polypeptide VIa-Heart2 3     COX VIa-M2 3
Cytochrome C Oxidase Subunit VIA-Muscle2 3     Cytochrome C Oxidase Subunit 6A2, Mitochondrial2
COX6AH2 3     COX6A3

External Ids:    HGNC: 22791   Entrez Gene: 13392   Ensembl: ENSG000001568857   OMIM: 6020095   UniProtKB: Q022213   

Export aliases for COX6A2 gene to outside databases

Previous GC identifers: GC16U990015 GC16M031935 GC16M031435 GC16M031475 GC16M031346 GC16M028999


Summaries
for COX6A2 gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
Entrez Gene summary for COX6A2:
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)

UniProtKB/Swiss-Prot: CX6A2_HUMAN, Q02221
Function: This protein is one of the nuclear-coded polypeptide chains of cytochrome c oxidase, the terminal oxidase in
mitochondrial electron transport




Genomic Views
for COX6A2 gene

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000016.9  NC_018927.1  NT_010393.16  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the COX6A2 gene promoter:
         Elk-1   AML1a   GCNF   GATA-1   RORalpha1   Egr-2   AREB6   GCNF-1   GCNF-2   RSRFC4   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: COX6A2 promoter sequence
   Search SABiosciences Chromatin IP Primers for COX6A2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat COX6A2


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 16p11.12   Ensembl cytogenetic band:  16p11.2   HGNC cytogenetic band: 16p11.12

COX6A2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
COX6A2 gene location

GeneLoc information about chromosome 16         GeneLoc Exon Structure

GeneLoc location for GC16M031439:  view genomic region     (about GC identifiers)

Start:
 31,439,052 bp from pter      End:
 31,439,967 bp from pter
Size:
 916 bases      Orientation:
 minus strand

Proteins
for COX6A2 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
UniProtKB/Swiss-Prot: CX6A2_HUMAN, Q02221 (See protein sequence)
Recommended Name: Cytochrome c oxidase subunit 6A2, mitochondrial precursor  
Size: 97 amino acids; 10815 Da
Subcellular location: Mitochondrion inner membrane
Secondary accessions: O00761 Q6GTW6

Explore the universe of human proteins at neXtProt for COX6A2: NX_Q02221

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q02221

    • COX6A2 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_005196.1  
    ENSEMBL proteins: 
     ENSP00000287490  

    Human Recombinant Protein Products: 
    Browse Purified and Recombinant Proteins at EMD Millipore
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    OriGene Purified Protein: COX6A2
    OriGene Protein Over-expression Lysate: COX6A2
    OriGene Custom Protein Services for COX6A2 
    GenScript Custom Purified and Recombinant Proteins Services for COX6A2
    Novus Biologicals COX6A2 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn Proteins for COX6A2

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005739mitochondrion ----
    GO:0005751mitochondrial respiratory chain complex IV IEA--


    COX6A2 for ontologies           About GeneDecksing



    COX6A2 Antibody Products: 
    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Browse R&D Systems for Antibodies
    OriGene Antibodies: COX6A2
    OriGene Custom Antibody Services for COX6A2 
    GenScript Custom Superior Antibodies Services for COX6A2
    Novus Biologicals COX6A2 Antibodies
    Search for Antibodies for COX6A2 at Abcam  
    Uscn Antibodies for COX6A2
    ThermoFisher Antibodies for COX6A2

    Assay Products for COX6A2: 
    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Immunoassay Development
    Browse OriGene Fluorogenic Cell Assay Kits
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for COX6A2
    Browse Enzo Life Sciences for kits & assays
    Uscn ELISAs and CLIAs for COX6A2

    Protein Domains /
    Families
    for COX6A2 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    COX6A2 for domains           About GeneDecksing

    2 InterPro domains/families:
     IPR018507 Cyt_c_oxidase_su6a_CS
     IPR001349 Cyt_c_oxidase_su6a

    Graphical View of Domain Structure for InterPro Entry Q02221

    ProtoNet protein and cluster: Q02221

    1 Blocks protein family: IPB001349 Cytochrome c oxidase

    UniProtKB/Swiss-Prot: CX6A2_HUMAN, Q02221
    Similarity: Belongs to the cytochrome c oxidase subunit 6A family


    Function
    for COX6A2 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         UniProtKB/Swiss-Prot: CX6A2_HUMAN, Q02221
    Function: This protein is one of the nuclear-coded polypeptide chains of cytochrome c oxidase, the terminal oxidase in
    mitochondrial electron transport

         Genatlas biochemistry entry for COX6A2:
    cytochrome c oxidase,subunit VIa2,component of the complex IV,terminal enzyme complex for electron transfert,oxidative
    phosphorylation (OXPHOS),inner mitochondrial membrane

    miRNA
    Products:            		 OriGene 3'-UTR Clone: COX6A2
    Browse MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat COX6A2
    Search QIAGEN for miScript miRNA Assays for microRNAs that regulate COX6A2
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
    Products:            		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for COX6A2 (see all 7)
    OriGene shRNA RFP: COX6A2
    OriGene siRNA: COX6A2
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat COX6A2

    Gene Editing
    Products:    		DNA2.0 Custom Protein Engineering Service for COX6A2

    Clone
    Products:             		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for COX6A2 (see all 3)
    OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for COX6A2
    OriGene custom cloning services – gene synthesis, subcloning, mutagenesis, variant library, vector shuttling 
    GenScript: all cDNA clones in your preferred vector: COX6A2 (NM_005205)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for COX6A2
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat COX6A2 

    Cell Line
    Products:             		GenScript Custom overexpressing Cell Line Services for COX6A2
    Search LifeMap BioReagents cell lines for COX6A2

    In Situ Assay
    Products:       
         		Search Advanced Cell Diagnostics for RNAscope RNA in situ hybridization assays for COX6A2

    Gene Ontology (GO): 1 molecular function term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004129cytochrome-c oxidase activity IEA--


    COX6A2 for ontologies           About GeneDecksing


    3 GenomeRNAi human phenotypes for COX6A2:
     Decreased POU5F1-GFP protein e  Decreased homologous recombina  Increased cell number in G1, s 

    Animal Models:
         Mouse knock-out Cox6a2tm1Djg for COX6A2
         1 MGI mutant phenotype (inferred from 1 allele) (MGI details for Cox6a2):
     cardiovascular system 

    COX6A2 for phenotypes           About GeneDecksing


    Pathways & Interactions
    for COX6A2 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.
    		Electron Transport Chain0.76
    		Alzheimer's disease0.43
    		Oxidative phosphorylation0.63
    		Huntington's disease0.40
    		Parkinson's disease0.61
    2AMPK Enzyme Complex Pathway
    		AMPK Enzyme Complex Pathway1.00
    3Cardiac muscle contraction
    		Cardiac muscle contraction1.00
    4Metabolism
    		Metabolic pathways0.38

    Pathway sources
    See GeneCards unified pathways
    Show all pathways

    1 Downloadable PowerPoint Slide of QIAGEN Pathway Central Maps for COX6A2
        AMPK Enzyme Complex Pathway

    1 BioSystems Pathway for COX6A2 
        Electron Transport Chain


    5/6         Kegg Pathways  (Kegg details for COX6A2) (see all 6):
        Oxidative phosphorylation
    Metabolic pathways
    Cardiac muscle contraction
    Alzheimer's disease
    Parkinson's disease


    COX6A2 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for COX6A2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 24)

    5/24 Interacting proteins for COX6A2 (ENSP000002874904) via UniProtKB, MINT, STRING, and/or I2D (see all 24)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    COX4I2ENSP000003652434STRING: ENSP00000365243
    COX6A1ENSP000002293794STRING: ENSP00000229379
    MT-CO1ENSP000003544994STRING: ENSP00000354499
    COX5BENSP000002584244STRING: ENSP00000258424
    MT-CO3ENSP000003549824STRING: ENSP00000354982
    About this table

    Gene Ontology (GO): 1 biological process term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006091generation of precursor metabolites and energy TAS9284905


    COX6A2 for ontologies           About GeneDecksing



    Drugs & Compounds
    for COX6A2 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for COX6A2

    2 HMDB Compounds for COX6A2    About this table
    CompoundSynonyms CAS #PubMed Ids
    OxygenOxygen (see all 5)7782-44-7--
    WaterDihydrogen oxide (see all 2)7732-18-5--

    2 DrugBank Compounds for COX6A2    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Cholic Acid-- 81-25-4target--10592235
    N-Formylmethionine-- --target--10592235

    Search CenterWatch for drugs/clinical trials and news about COX6A2 / CX6A2 

    Transcripts
    for COX6A2 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    REFSEQ mRNAs for COX6A2 gene: 
    NM_005205.3  

    Unigene Cluster for COX6A2:

    Cytochrome c oxidase subunit VIa polypeptide 2
    Hs.250760  [show with all ESTs]
    Unigene Representative Sequence: BP317375
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000287490(uc002ebx.2) ENST00000565462

    miRNA
    Products:             		 OriGene 3'-UTR Clone: COX6A2
    Browse OriGene MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat COX6A2
    Search QIAGEN for miScript miRNA Assays for microRNAs that regulate COX6A2
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
    Products:             		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for COX6A2 (see all 7)
    OriGene shRNA RFP: COX6A2
    OriGene siRNA: COX6A2
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat COX6A2
    Clone
    Products:             		 OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for COX6A2 (see all 3)
    OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for COX6A2
    OriGene custom cloning services – gene synthesis, subcloning, mutagenesis, variant library, vector shuttling 
    GenScript: all cDNA clones in your preferred vector: COX6A2 (NM_005205)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for COX6A2
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat COX6A2 
    Primer
    Products:            		 OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for COX6A2
    Browse OriGene validated miRNA SYBR primer pairs
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat COX6A2
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat COX6A2
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat COX6A2

    Additional cDNA sequence: 

    BC029818.1 HE647858.1 M83308.1 

    4 DOTS entries:

    DT.449545  DT.120690356  DT.120690359  DT.91752764 

    24/246 AceView cDNA sequences (see all 246):

    BC036762 F24171 F33734 AW950047 F29339 F29936 F28735 NM_005205 
    C04692 BM715485 F29387 F29982 F24380 AJ711352 F36246 C05267 
    AJ572299 BM712970 F28062 F36839 BC029818 F32256 BX104124 F17991 

    GeneLoc Exon Structure


    Expression
    for COX6A2 gene

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    COX6A2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: GCTTTGCCTC

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    COX6A2 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    2 LifeMap In Vivo Development Anatomical Compartments/Cells 
    Tissue Anatomical Compartment CellCategory (developmental path)
    TestisSeminiferous TubulesSertoli cellsTestis
    HeartHeart TubeHeart
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See COX6A2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for COX6A2

    SOURCE GeneReport for Unigene cluster: Hs.250760

    UniProtKB/Swiss-Prot: CX6A2_HUMAN, Q02221
    Tissue specificity: Expressed specifically in heart and muscle

        SABiosciences Expression via Pathway-Focused PCR Array including COX6A2: 
              Mitochondrial Energy Metabolism in human mouse rat

    Primer
    Products:    		 OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for COX6A2
    Browse OriGene validated miRNA SYBR primer pairs
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat COX6A2
    QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat COX6A2
    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat COX6A2
    In Situ
    Assay Products:     
         		Search Advanced Cell Diagnostics for RNAscope RNA in situ hybridization assays for COX6A2

    Orthologs
    for COX6A2 gene

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section
    This gene was present in the common ancestor of animals.

    Orthologs for COX6A2 gene from 3/14 species (see all 14)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    zebrafish
    (Danio rerio)    		 Actinopterygii cox6a21 cytochrome c oxidase subunit VIa polypeptide 2 64.77(n)
    64.77(a)    		   447942  NM_001004680.1  NP_001004680.1 
    fruit fly
    (Drosophila melanogaster)    		 Insecta CG300936
    levy6
    (see all 3)    		 levy
    (see all 3)    		 43(a)
    38(a)
    (see all 3)    		 many ↔ many
    many ↔ many
    (see all 3)    		 2R(11831548-11832072)
    2R(19435763-19436505)
    worm
    (Caenorhabditis elegans)    		 Secernentea tag-1746
    		 Probable cytochrome c oxidase subunit 6A, mitochon...
    		 23(a)
    		 possible ortholog
    		 III(5081686-5082969)


    ENSEMBL Gene Tree for COX6A2 (if available)
    TreeFam Gene Tree for COX6A2 (if available) 

    Paralogs
    for COX6A2 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for COX6A2 gene
    COX6A12  COX6A1P22  
    2 SIMAP similar genes for COX6A2 using alignment to 2 protein entries:     CX6A2_HUMAN (see all proteins):
    COX6A1    COX6A1P2

    COX6A2 for paralogs           About GeneDecksing



    Genomic Variants
    for COX6A2 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/65 NCBI SNPs in COX6A2 are shown (see all 65)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 16 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs770230041,2
    		F,--31438812(+) GGTGTG/ATGTGA 1 -- ds50011Minor allele frequency- A:0.04EA 120
    rs801339041,2
    		C,--31438841(+) ACCAGG/ATGAGA 1 -- ds50012Minor allele frequency- A:0.05CSA WA 120
    rs756821561,2
    		F,--31438844(+) AGGTGA/GGAGAC 1 -- ds50011Minor allele frequency- G:0.10WA 118
    rs740155231,2
    		C,--31438968(+) AGGAGC/TGCTTA 1 -- ds50012Minor allele frequency- T:0.10WA 120
    rs1857757371,2
    		--31439014(+) GGCGCG/TCTCCC 1 -- ds50010--------
    rs2015133001,2
    		--31439066(+) CACACA/CTTTAT 1 -- ut310--------
    rs2018770251,2
    		--31439097(+) GCCTCA/GGGGGT 2 R * stop-lost0--------
    rs122401,2
    		C,F,H,--31439170(-) TACCCC/TTGGGG 2 P syn116Minor allele frequency- T:0.07NS EA WA NA EU 7065
    rs1483078901,2
    		C,F--31439172(+) CCAGGG/CGTAGG 2 /P /A mis11Minor allele frequency- C:0.00NA 4386
    rs1419321851,2
    		C,F--31439177(+) GGTAGG/AGCTGT 2 /P /L mis11Minor allele frequency- A:0.00NA 4320

    HapMap Linkage Disequilibrium report for COX6A2 (31439052 - 31439967 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for COX6A2: --

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing COX6A2
    DNA2.0 Custom Variant and Variant Library Synthesis for COX6A2

    Disorders / Diseases
    for COX6A2 gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    COX6A2 for disorders           About GeneDecksing

    OMIM gene information: 602009    OMIM disorders: --

    2 diseases for COX6A2:    About MalaCards
    huntington's disease    parkinson's disease


    Export disorders for COX6A2 gene to outside databases

    Publications
    for COX6A2 gene

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for COX6A2 gene, integrated from 9 sources (see all 13):
    (articles sorted by number of sources associating them with COX6A2)    		    Utopia: connect your pdf to the dynamic
    world of online information

    1. 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. (PubMed id 9177785)1, 2, 3, 9 Bachman N.J....Lomax M.I. (1997)
    2. Differential expression of genes specifying two isoforms of subunit VIa of human cytochrome c oxidase. (PubMed id 1327966)1, 2, 3 Fabrizi G.M.... Schon E.A. (1992)
    3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    4. HIV-1 Tat protein directly induces mitochondrial membr ane permeabilization and inactivates cytochrome c oxidase. (PubMed id 22419111)1 Lecoeur H....Jacotot E. (2012)
    5. Interactions of pathological hallmark proteins: tubul in polymerization promoting protein/p25, beta-amyloid, and alpha-synuclein. (PubMed id 21832049)1 OlA!h J....OvA!di J. (2011)
    6. Sequence comparison of human and mouse genes reveals a homologous block structure in the promoter regions. (PubMed id 15342556)1 Suzuki Y.... Sugano S. (2004)
    7. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (2002)
    8. The Protein Data Bank. (PubMed id 10592235)7 Berman H.M....Bourne P.E. (2000)
    9. Assignment of COX6A1 to 6p21 and a pseudogene (COX6A1P) to 1p31.1 by in situ hybridization and somatic cell hybrids. (PubMed id 9284905)1 Hey Y....Varley J.M. (1997)
    10. Identification of 4370 expressed sequence tags from a 3'-end-specific cDNA library of human skeletal muscle by DNA sequencing and filter hybridization. (PubMed id 8681137)1 Lanfranchi G....Valle G. (1996)

    External Searches for COX6A2 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Free Text  
      Query String
    		PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    Genome Databases showing COX6A2 gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 1339 HGNC: 2279 AceView: COX6A2andMGC46336 Ensembl:ENSG00000156885 euGenes: HUgn1339
    ECgene: COX6A2 Kegg: 1339 H-InvDB: COX6A2

    Other Databases showing COX6A2 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing COX6A2 gene

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for COX6A2 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for COX6A2 Genetics and Cytogenetics in Oncology and Haematology

    Intellectual Property
    for COX6A2 gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		Patent Information for COX6A2 gene:
    Search GeneIP for patents involving COX6A2

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    Products
    for COX6A2 gene

    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences),
    In Situ Hybridization Assays from
    Advanced Cell Diagnostics
    About This Section

     
     EMD Millipore Custom Antibody & Bulk Services
     EMD Millipore Preclinical / Clinical Development Services
     EMD Millipore Immunoassay Services
     EMD Millipore Target Screening & Profiling Services

      
     Browse Antibodies   Browse Cell Culture Products  
     Browse ELISAs   Browse Flow Cytometry Kits  
     Browse Primer Pairs   Browse Kinase Activity Assays/Reagents  
     Browse ELISpot Kits/Development Modules   Browse TFB/Immunoprecipitation Assays  
     Browse Apoptosis Detection Kits/Reagents   Browse Ubiquitin Proteasome Pathway (UPP) Assay Kits/Reagents  
     Browse DNA Damage/Repair Kits/Reagents   Browse Multiplex/Array Assay Kits/Reagents  
     Browse Cell Selection/Detection Kits/Reagents   Browse Secondary Antibodies/Controls/Staining Reagents  
     Browse Phosphatase Activity Assays/Reagents   Browse Recombinant/Natural Proteins  
     OriGene Antibodies for COX6A2   OriGene shRNA RFP for COX6A2  
     OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for COX6A2   OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for COX6A2  
     OriGene Protein Over-expression Lysate for COX6A2   Browse OriGene Fluorogenic Cell Assay Kits  
     OriGene siRNA for COX6A2   OriGene 3'-UTR Clone for COX6A2  
     OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for COX6A2   OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for COX6A2  
     Browse OriGene GFP tagged cDNA clones in CMV expression vector   Browse OriGene MicroRNA Expression Plasmids  
     Browse OriGene basic RS shRNAs   Browse OriGene validated miRNA SYBR primer pairs  
     OriGene Purified Protein for COX6A2   OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling  
     OriGene Custom Antibody Services for COX6A2   OriGene Custom Protein Services for COX6A2  
     OriGene Custom Immunoassay Development  

         		 
     QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat COX6A2
     QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing COX6A2
     QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat COX6A2
     QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat COX6A2
     QIAGEN QuantiFast Probe-based Assays in human, mouse, rat COX6A2
     QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat COX6A2
     GenScript Custom Purified and Recombinant Proteins Services for COX6A2 GenScript cDNA clones with any tag delivered in your preferred vector for COX6A2
     GenScript Custom Assay Services for COX6A2 GenScript Custom Superior Antibodies Services for COX6A2
     GenScript Custom overexpressing Cell Line Services for COX6A2 CloneReady with Over 120,000 Genes
     Gene Synthesis: Any Gene in Any Vector Vector-based siRNA and miRNA, Ready for Transfection
     Gene Mutant Library, Variants up to 10^11 Plasmid Preparation
     Custom Peptide Services
     Search for Antibodies & Assays

     Regulatory tfbs in COX6A2 promoter
     Search Chromatin IP Primers for COX6A2
     RT2 qPCR Primer Assay in human, mouse, rat COX6A2
     Search GNC Networks for COX6A2
     SABiosciences PCR Arrays including human, mouse, rat COX6A2
     Search Tocris compounds for COX6A2
     Browse Sino Biological Proteins and Antibodies
     Browse Sino Biological cDNA Clones
     Antibodies/Proteins Production Services
     Rabbit Monoclonal Antibody Platform
     Bulk Purchasing
     Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies
     Novus Tissue Slides
     COX6A2 antibodies
     COX6A2 lysates
     Search for Antibodies for COX6A2 at Abcam
     See all of Abcam's Antibodies, Kits and Proteins for COX6A2
     Custom Antibody / Protein Production Service
     Bulk Purchasing
     Advantages of Rabbit Monoclonal antibodies
     Abcam protocols and scientific support
     Browse ProSpec Recombinant Proteins




     COX6A2 Proteins, Antibodies, CLIAs, and ELISAs
     Search LifeMap BioReagents cell lines for COX6A2
     Gene Synthesis
     Protein Engineering
     Variant Library Synthesis
     Codon Optimization
     Protein Production and Purification
     Search Advanced Cell Diagnostics for RNAscope RNA in situ hybridization assays for COX6A2
     Browse SwitchGear 3'UTR luciferase reporter plasmids for COX6A2
     SwitchGear Promoter luciferase reporter plasmids for COX6A2
     ThermoFisher Antibodies for COX6A2
     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat COX6A2
           
    GeneCards Homepage - Last full update: 19 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 27 Apr 2013

    View Random Gene

    Category
    VWF
    (GIFTS: 73)
    von Willebrand factor
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 

    Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

    Copyright © 1996-2013 , Weizmann Institute of Science. All Rights Reserved.
    Hot genes      Disease genes      COX6A2 gene at Home site.
    hostname: 356980-web2.xennexinc.com index build: 100 solr: 1.4