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

COX5A Gene

protein-coding   GIFtS: 63
GCID: GC15M075212

Cytochrome C Oxidase Subunit Va

Alzheimer's & Parkinson's Diseases Congress
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Cytochrome C Oxidase Subunit Va1 2     VA2
Cytochrome C Oxidase Polypeptide Va2 3     Cytochrome C Oxidase Polypeptide, Mitochondrial2
COX2     Cytochrome C Oxidase Subunit 5A, Mitochondrial2
COX-VA2     Mitochondrial Cytochrome C Oxidase Subunit Va2

External Ids:    HGNC: 22671   Entrez Gene: 93772   Ensembl: ENSG000001787417   OMIM: 6037735   UniProtKB: P206743   

Export aliases for COX5A gene to outside databases

Previous GC identifers: GC15M071071 GC15M068327 GC15M072788 GC15M072928 GC15M072999 GC15M052009


(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 COX5A Gene:
Cytochrome c oxidase (COX) is the terminal enzyme of the mitochondrial respiratory chain. It is a multi-subunit
enzyme complex that couples the transfer of electrons from cytochrome c to molecular oxygen and contributes to a
proton electrochemical gradient across the inner mitochondrial membrane. The complex consists of 13
mitochondrial- and nuclear-encoded subunits. The mitochondrially-encoded subunits perform the electron transfer
of proton pumping activities. The functions of the nuclear-encoded subunits are unknown but they may play a role
in the regulation and assembly of the complex. This gene encodes the nuclear-encoded subunit Va of the human
mitochondrial respiratory chain enzyme. A pseudogene COX5AP1 has been found in chromosome 14q22. (provided by
RefSeq, Jul 2008)

GeneCards Summary for COX5A Gene: 
COX5A (cytochrome c oxidase subunit Va) is a protein-coding gene. Diseases associated with COX5A include acquired idiopathic sideroblastic anemia, and cardioencephalomyopathy, and among its related super-pathways are Electron Transport Chain and Metabolic pathways. GO annotations related to this gene include electron carrier activity and cytochrome-c oxidase activity.

UniProtKB/Swiss-Prot: COX5A_HUMAN, P20674
Function: This is the heme A-containing chain of cytochrome c oxidase, the terminal oxidase in mitochondrial
electron transport




(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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000015.9  NC_018926.2  NT_010194.17  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the COX5A gene promoter:
         Max1   Spz1   p53   AP-1   ATF-2   NF-kappaB   c-Jun   NF-kappaB1   Pax-4a   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCOX5A promoter sequence
   Search SABiosciences Chromatin IP Primers for COX5A

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat COX5A


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

Entrez Gene cytogenetic band: 15q24.1   Ensembl cytogenetic band:  15q24.2   HGNC cytogenetic band: 15q25

COX5A Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
COX5A gene location

GeneLoc information about chromosome 15         GeneLoc Exon Structure

GeneLoc location for GC15M075212:  view genomic region     (about GC identifiers)

Start:
75,212,132 bp from pter      End:
75,230,509 bp from pter
Size:
18,378 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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 Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: COX5A_HUMAN, P20674 (See protein sequence)
Recommended Name: Cytochrome c oxidase subunit 5A, mitochondrial precursor  
Size: 150 amino acids; 16762 Da
Subcellular location: Mitochondrion inner membrane
Secondary accessions: P30045 Q8TB65

Explore the universe of human proteins at neXtProt for COX5A: NX_P20674

Explore proteomics data for COX5A at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P20674

  • COX5A Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    COX5A Protein Expression
    REFSEQ proteins: NP_004246.2  
    ENSEMBL proteins: 
     ENSP00000317780   ENSP00000456253   ENSP00000457974   ENSP00000455053   ENSP00000456314  
     ENSP00000456386  
    Reactome Protein details: P20674
    Human Recombinant Protein Products for COX5A: 
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    Novus Biologicals COX5A Proteins
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    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    ProSpec Recombinant Protein for COX5A
    Browse Proteins at Cloud-Clone Corp. 

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005739mitochondrion ----
    GO:0005743mitochondrial inner membrane TAS--

    COX5A for ontologies           About GeneDecksing



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    Browse ELISAs at Cloud-Clone Corp. 
    Browse CLIAs at Cloud-Clone Corp.


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    comIV: Mitochondrial respiratory chain complex / Complex IV

    1 InterPro protein domain:
     IPR003204 Cyt_c_oxidase_su5A/6

    Graphical View of Domain Structure for InterPro Entry P20674

    ProtoNet protein and cluster: P20674

    1 Blocks protein domain: IPB003204 Cytochrome c oxidase

    UniProtKB/Swiss-Prot: COX5A_HUMAN, P20674
    Similarity: Belongs to the cytochrome c oxidase subunit 5A family


    COX5A for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    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, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: COX5A_HUMAN, P20674
    Function: This is the heme A-containing chain of cytochrome c oxidase, the terminal oxidase in mitochondrial
    electron transport

         Genatlas biochemistry entry for COX5A:
    cytochrome c oxidase,subunit Va,component of the complex IV,terminal enzyme complex for electron
    transfer,oxidative phosphorylation (OXPHOS),inner mitochondrial membrane

         Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004129cytochrome-c oxidase activity IEA--
    GO:0009055electron carrier activity TAS2853101
    GO:0046872metal ion binding IEA--
         
    COX5A for ontologies           About GeneDecksing


    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for COX5A 
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for COX5A 
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    SwitchGear 3'UTR luciferase reporter plasmidCOX5A 3' UTR sequence
    Inhib. RNA
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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for COX5A About                                                                                                See pathways by source

    SuperPathSelected contained pathways About (see all per SuperPath)
    1Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.
    Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.0.81
    Parkinson's disease0.61
    Respiratory electron transport0.81
    Huntington's disease0.47
    Electron Transport Chain0.75
    Alzheimer's disease0.46
    The citric acid (TCA) cycle and respiratory electron transport0.72
    Non-alcoholic fatty liver disease (NAFLD)0.41
    2Metabolism
    Metabolism0.40
    Metabolic pathways0.40
    3Synthesis of epoxy (EET) and dihydroxyeicosatrienoic acids (DHET)
    Arachidonate Epoxygenase / Epoxide Hydrolase0.36
    4Cardiac muscle contraction
    Cardiac muscle contraction
    5AMPK Enzyme Complex Pathway
    AMPK Enzyme Complex Pathway

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 Downloadable PowerPoint Slide of QIAGEN Pathway Central Maps for COX5A
        AMPK Enzyme Complex Pathway

    2 BioSystems Pathways for COX5A
        Arachidonate Epoxygenase / Epoxide Hydrolase
    Electron Transport Chain

    4        Reactome Pathways for COX5A
        Respiratory electron transport
    Metabolism
    Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.
    The citric acid (TCA) cycle and respiratory electron transport


    5/7         Kegg Pathways  (Kegg details for COX5A) (see all 7):
        Oxidative phosphorylation
    Metabolic pathways
    Cardiac muscle contraction
    Non-alcoholic fatty liver disease (NAFLD)
    Alzheimer's disease


    COX5A for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for COX5A

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/68 Interacting proteins for COX5A (P206742, 3 ENSP000003177804) via UniProtKB, MINT, STRING, and/or I2D (see all 68)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    RPL9P329693I2D: score=5 
    RPL9P7P329693I2D: score=5 
    RPL9P8P329693I2D: score=5 
    RPL9P9P329693I2D: score=5 
    COPS6Q7L5N12, 3, ENSP000003041024MINT-63552 I2D: score=5 STRING: ENSP00000304102
    About this table

    Gene Ontology (GO): 3 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0022904respiratory electron transport chain TAS--
    GO:0044237cellular metabolic process TAS--
    GO:0044281small molecule metabolic process TAS--

    COX5A for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    COX5A for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for COX5A

    3 HMDB Compounds for COX5A    About this table
    CompoundSynonyms CAS #PubMed Ids
    (2E)-Hexadecenoyl-CoAtrans-2-Hexadecenoyl-CoA (see all 4)4460-95-1--
    Alpha-D-Glucose 1,6-bisphosphateAlpha-D-1,6-bis(dihydrogen phosphate) Glucopyranose (see all 15)10139-18-1--
    Heme(protoporphyrinato)iron (see all 19)14875-96-8--

    2 DrugBank Compounds for COX5A    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Cholic Acid-- 81-25-4target--10592235
    N-Formylmethionine-- --target--10592235

    10/134 Novoseek inferred chemical compound relationships for COX5A gene (see all 134)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    arachidonic acid 86.6 285 12544904 (5), 16714329 (3), 16846782 (3), 7858842 (3) (see all 99)
    prostaglandin 84.5 150 19843975 (2), 11418589 (2), 8936582 (1), 9096394 (1) (see all 99)
    pge2 81 133 17868110 (6), 10815617 (4), 12002912 (3), 16714329 (3) (see all 71)
    celecoxib 78.8 15 15500394 (1), 12925310 (1), 19723114 (1), 10215599 (1) (see all 14)
    ns 398 75.8 9 19106979 (1), 12660005 (1), 15931672 (1), 17329938 (1) (see all 8)
    rofecoxib 74.3 12 16118328 (2), 17673806 (2), 12925310 (1), 15963707 (1) (see all 8)
    indomethacin 71 77 15224350 (2), 17880512 (2), 11352223 (2), 9831321 (2) (see all 60)
    prostaglandin-h2 70.5 13 9138698 (1), 9440135 (1), 16552393 (1), 12457435 (1) (see all 13)
    aspirin 70.3 81 14584890 (3), 17944992 (2), 16785401 (2), 15992053 (1) (see all 50)
    pgh2 69.4 9 9138698 (1), 14683687 (1), 15868626 (1), 12199620 (1) (see all 9)

    Search CenterWatch for drugs/clinical trials and news about COX5A

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, 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, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for COX5A gene: 
    NM_004255.3  

    Unigene Cluster for COX5A:

    Cytochrome c oxidase subunit Va
    Hs.401903  [show with all ESTs]
    Unigene Representative Sequence: BU150928
    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000322347(uc002azi.4) ENST00000562233 ENST00000567270 ENST00000568783
    ENST00000568517 ENST00000564811

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    Additional mRNA sequence: 

    AK026615.1 AK026623.1 BC024240.2 CR407649.1 M22760.1 

    12 DOTS entries:

    DT.449524  DT.121026560  DT.100822512  DT.100822513  DT.120786733  DT.100822514  DT.92438976  DT.100822516 
    DT.40133167  DT.87015672  DT.91786142  DT.91960923 

    24/358 AceView cDNA sequences (see all 358):

    BF477493 AI051835 BM830147 AA476653 BU528604 CK430601 AA827855 BQ777070 
    AK026623 AI879112 BE252970 AI720855 AW191985 F30281 BM666934 AA811372 
    BM795732 BM314686 AI924773 AI186198 BM692991 BF196691 AW054846 CA942093 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for COX5A    About this scheme

    ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4 ^ 5a · 5b · 5c ^ 6a · 6b
    SP1:                    -                             -               
    SP2:                                                                  
    SP3:                    -                                             
    SP4:                    -           -     -     -     -               


    ECgene alternative splicing isoforms for COX5A

    (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

    COX5A expression in normal human tissues (normalized intensities)      COX5A embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TAATGGTAAC
    COX5A Expression
    About this image


    COX5A expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/38 selected tissues (see all 38) fully expand
     
     Brain (Nervous System)    fully expand to see all 13 entries
             Medulla Oblongata
             brain/forebrain/telencephalon   
     
     Epithelium (Reproductive System)    fully expand to see all 5 entries
             vagina ; squamous epithelial cells   
     
     Uterus
             uterus, post-menopause ; glandular cells   
     
     Heart (Cardiovascular System)    fully expand to see all 3 entries
             heart muscle ; myocytes   
             heart/ventricle   
     
     Blood (Hematopoietic System)    fully expand to see all 3 entries
             Hematopoietic Stem Cells Hematopoietic Bone Marrow
             lung ; macrophages   
             mouse/organ system/cardiovascular system   

    See COX5A Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for COX5A

    SOURCE GeneReport for Unigene cluster: Hs.401903
        SABiosciences Expression via Pathway-Focused PCR Arrays including COX5A: 
              Mitochondrial Energy Metabolism in human mouse rat
              Cancer PathwayFinder in human mouse rat

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    In Situ
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    (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 and fungi.

    Orthologs for COX5A gene from 8/18 species (see all 18)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Cox5a1 , 5 cytochrome c oxidase, subunit Va5
    cytochrome c oxidase subunit Va1
    87.9(n)1
    87.67(a)1
      9 (31.05 cM)5
    128581  NM_007747.21  NP_031773.21 
     575212325 
    chicken
    (Gallus gallus)
    Aves COX5A1 cytochrome c oxidase subunit Va 80.82(n)
    89.21(a)
      769735  XM_001233020.2  XP_001233021.2 
    lizard
    (Anolis carolinensis)
    Reptilia COX5A6
    Uncharacterized protein
    81(a)
    1 ↔ 1
    GL343492.1(557252-562409)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.241532 Xenopus laevis transcribed sequence with moderate similarity to protein spP20674 (H.sapiens) COXA_HUMAN CYTOCHROME C OXIDASE POLYPEPTIDE VA, MITOCHONDRIAL PRECURSOR less 85.24(n)    BX842797.1 
    zebrafish
    (Danio rerio)
    Actinopterygii BC059554.12   -- 79.31(n)    BC059554.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CoVa1 , 3 electron transport cytochrome c oxidase3
    Cytochrome c oxidase subunit Va1
    52(a)3
    56.02(n)1
    53.78(a)1
      3 86F93
    414321  NM_169436.21  NP_731641.11 
    worm
    (Caenorhabditis elegans)
    Secernentea cco-21 Protein CCO-2 58.76(n)
    51.55(a)
      176707  NM_067280.4  NP_499681.1 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes COX6(YHR051W)4 Subunit VI of cytochrome c oxidase, which is the terminal member of the mitochondrial inner membrane electron transport chain; expression is regulated by oxygen levels less   --   8(209705-210151) 856448  NP_011918.1 


    ENSEMBL Gene Tree for COX5A (if available)
    TreeFam Gene Tree for COX5A (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for COX5A gene

    COX5A for paralogs           About GeneDecksing


    5 Pseudogenes.org Pseudogenes for COX5A
    PGOHUM00000239877 PGOHUM00000247806 PGOHUM00000248170 PGOHUM00000262212 PGOHUM00000237489


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, 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

    10/423 SNPs in COX5A are shown (see all 423)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 15 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs11333231,2
    C,F,A,H--75212225(-) TACCTA/GTTCTT 1 -- ds500134Minor allele frequency- N:0.00MN EA NA NS 3336
    rs11333221,2
    C,F,A,H--75212357(-) CAAATT/CGTGTA 1 -- ds500127Minor allele frequency- C:0.25MN NS EA NA WA 2956
    rs570155571,2
    C,F--75212435(+) TTCTAG/CCCTTC 1 -- ds50014Minor allele frequency- C:0.20WA CSA 124
    rs1860573791,2
    --75212499(+) TCAGAC/TGGTTT 1 -- ds50010--------
    rs1136488631,2
    C--75212785(+) CCATCC/TGTAAG 1 -- spa10--------
    rs1394417051,2
    --75212880(+) ATCACA/TGTCTC 1 -- int10--------
    rs118588581,2
    H--75212980(+) TACTTC/GCTTCC 1 -- int1 trp30--------
    rs1920728971,2
    --75213041(+) GGGCCA/GGACAC 1 -- int10--------
    rs1450358501,2
    --75213137(+) AACACA/GGTGAA 1 -- int10--------
    rs1475757721,2
    --75213212(+) TACTCA/GGGAGG 1 -- int10--------

    HapMap Linkage Disequilibrium report for COX5A (75212132 - 75230509 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for COX5A:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2595466CNV Deletion19546169
    nsv904381CNV Loss21882294

    SABiosciences Cancer Mutation PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 603773    OMIM disorders: --

    20/129 diseases for COX5A (see all 129):    About MalaCards
    acquired idiopathic sideroblastic anemia    cardioencephalomyopathy    ethylmalonic encephalopathy    multiple symmetrical lipomatosis
    swayback    multiple symmetric lipomatosis    myoglobinuria recurrent    hair disease
    alpers syndrome    kearns-sayre syndrome    lipomatosis    menkes disease
    ophthalmoplegia    myositis    chronic progressive external ophthalmoplegia    desmoid tumor
    encephalomyopathy    mitochondrial encephalomyopathy    colonic polyps    sideroblastic anemia

    3 diseases from the University of Copenhagen DISEASES database for COX5A:
    Protein C deficiency     Thrombophilia     Leukocoria

    COX5A for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    10/91 Novoseek inferred disease relationships for COX5A gene (see all 91)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    cytochrome c oxidase deficiency 93.2 4 9545512 (1), 16773507 (1), 17508937 (1), 11312605 (1)
    leigh syndrome 89.6 51 9063742 (2), 12169463 (2), 2175026 (1), 1849240 (1) (see all 39)
    progressive external ophthalmoplegia 78.9 11 2175026 (1), 19251978 (1), 1312676 (1), 1330995 (1) (see all 8)
    mitochondrial diseases 78.4 22 9832034 (2), 19251978 (1), 19682572 (1), 9063742 (1) (see all 19)
    mitochondrial myopathies 77.5 9 1324295 (1), 7736281 (1), 11293802 (1), 8386896 (1) (see all 6)
    mitochondrial encephalomyopathies 74.8 7 7595643 (2), 18771761 (2), 8386896 (1), 17435251 (1) (see all 5)
    merrf 72.5 7 10477264 (2), 9037024 (1), 1606473 (1), 11850598 (1)
    acidosis lactic 65.7 7 19682572 (1), 19879173 (1), 11156535 (1), 14994243 (1) (see all 5)
    respiratory chain deficiency 65.2 1 9606056 (1)
    epilepsies myoclonic 64.7 4 10912924 (1), 1606473 (1), 9832034 (1)

    Genetic Association Database (GAD): COX5A
    Human Genome Epidemiology (HuGE) Navigator: COX5A (1 document)

    Export disorders for COX5A gene to outside databases

    (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 COX5A gene, integrated from 9 sources (see all 951):
    (articles sorted by number of sources associating them with COX5A)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Subunit Va of human and bovine cytochrome c oxidase is highly conserved. (PubMed id 2853101)1, 2, 3 Rizzuto R.... Schon E.A. (1988)
    2. Genetic variants in nuclear-encoded mitochondrial gen es influence AIDS progression. (PubMed id 20877624)1, 4 Hendrickson S.L....O'Brien S.J. (2010)
    3. Molecular evolution of the cytochrome c oxidase subunit 5A gene in primates. (PubMed id 18197981)1, 2 Uddin M.... Grossman L.I. (2008)
    4. Assignment of the human genes coding for cytochrome c oxidase subunits Va (COX5A), VIc (COX6C) and VIIc (COX7C) to chromosome bands 15q25, 8q22-->q23 and 5q14 and of three pseudogenes (COX5AP1, COX6CP1, COX7CP1) to 14q22, 16p12 and 13q14-->q21 by FISH and radiation hybrid mapping. (PubMed id 10072584)1, 3 Hofmann S.... Meitinger T. (1998)
    5. The major protein expression profile and two-dimensional protein database of human heart. (PubMed id 7498159)1, 2 Kovalyov L.I.... Musalyamov A.K. (1995)
    6. Human liver protein map: update 1993. (PubMed id 8313870)1, 2 Hughes G.J.... Hochstrasser D.F. (1993)
    7. Involvement of cytochrome c oxidase subunits Va and V b in the regulation of cancer cell metabolism by Bcl-2. (PubMed id 19834492)1, 9 Chen Z.X. and Pervaiz S. (2010)
    8. Global landscape of HIV-human protein complexes. (PubMed id 22190034)1 Jager S....Krogan N.J. (2012)
    9. The role of cytochrome c oxidase subunit Va in non-sma ll cell lung carcinoma cells: association with migration, invasion and predictio n of distant metastasis. (PubMed id 22748147)1 Chen W.L....Wang L.S. (2012)
    10. A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (2012)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 9377 HGNC: 2267 AceView: COX5A Ensembl:ENSG00000178741 euGenes: HUgn9377
    ECgene: COX5A Kegg: 9377 H-InvDB: COX5A

    (According to HUGE)
    About This Section
      --

    (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 COX5A Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for COX5A gene:
    Search GeneIP for patents involving COX5A

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



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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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