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COX15 Gene

protein-coding   GIFtS: 60
GCID: GC10M101461

Cytochrome C Oxidase Assembly Homolog 15 (Yeast)

(Previous names: COX15 (yeast) homolog, cytochrome c oxidase assembly protein,...)
  See COX15-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)
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Aliases
Cytochrome C Oxidase Assembly Homolog 15 (Yeast)1 2     Cytochrome C Oxidase Assembly Protein COX15 Homolog2
CEMCOX22 5     Cytochrome C Oxidase Subunit 152
COX15 (Yeast) Homolog, Cytochrome C Oxidase Assembly Protein1     EC 1.4.4.28
COX15 Homolog, Cytochrome C Oxidase Assembly Protein (Yeast)1     EC 3.1.3.58
COX15 Homolog, Cytochrome C Oxidase Assembly Protein2     

External Ids:    HGNC: 22631   Entrez Gene: 13552   Ensembl: ENSG000000149197   OMIM: 6036465   UniProtKB: Q7KZN93   

Export aliases for COX15 gene to outside databases

Previous GC identifers: GC10M100364 GC10M100705 GC10M101602 GC10M101136 GC10M095095


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for COX15 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 which is not a structural
subunit, but may be essential for the biogenesis of COX formation and may function in the hydroxylation of heme
O, according to the yeast mutant studies. This protein is predicted to contain 5 transmembrane domains localized
in the mitochondrial inner membrane. Alternative splicing of this gene generates two transcript variants
diverging in the 3' region. (provided by RefSeq, Jul 2008)

GeneCards Summary for COX15 Gene:
COX15 (cytochrome c oxidase assembly homolog 15 (yeast)) is a protein-coding gene. Diseases associated with COX15 include cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2, and leigh syndrome due to cytochrome c oxidase deficiency. GO annotations related to this gene include oxidoreductase activity, acting on the CH-CH group of donors and cytochrome-c oxidase activity.

UniProtKB/Swiss-Prot: COX15_HUMAN, Q7KZN9
Function: May be involved in the biosynthesis of heme A

Gene Wiki entry for COX15 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000010.10  NT_030059.14  NC_018921.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the COX15 gene promoter:
         E2F-4   E2F-3a   STAT1   E2F-5   E2F-2   GATA-2   AREB6   E2F   E2F-1   ZID   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCOX15 promoter sequence
   Search Chromatin IP Primers for COX15

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat COX15


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

Entrez Gene cytogenetic band: 10q24   Ensembl cytogenetic band:  10q24.2   HGNC cytogenetic band: 10q24

COX15 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
COX15 gene location

GeneLoc information about chromosome 10         GeneLoc Exon Structure

GeneLoc location for GC10M101461:  view genomic region     (about GC identifiers)

Start:
101,468,505 bp from pter      End:
101,492,423 bp from pter
Size:
23,919 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: COX15_HUMAN, Q7KZN9 (See protein sequence)
Recommended Name: Cytochrome c oxidase assembly protein COX15 homolog  
Size: 410 amino acids; 46030 Da
Secondary accessions: A8K6I9 O60556 O75878 Q5TD00 Q5TD01 Q7Z3Q3 Q9NTN0
Alternative splicing: 2 isoforms:  Q7KZN9-1   Q7KZN9-2   (Ref.1 (AAD08646) sequence is in conflict in position: 374:F->L)

Explore the universe of human proteins at neXtProt for COX15: NX_Q7KZN9

Explore proteomics data for COX15 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus
  • 2 DME Specific Peptides for COX15 (Q7KZN9)
     RNVFENP  SGTVAGA 


    See COX15 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_004367.2  NP_510870.1  

    ENSEMBL proteins: 
     ENSP00000359514   ENSP00000016171  
    Reactome Protein details: Q7KZN9

    COX15 Human Recombinant Protein Products:

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    MITOAF: Mitochondrial respiratory chain complex assembly factors

    3 InterPro protein domains:
     IPR023754 HemeA_Synthase_type2
     IPR009003 Trypsin-like_Pept_dom
     IPR003780 HemeA_syn

    Graphical View of Domain Structure for InterPro Entry Q7KZN9

    ProtoNet protein and cluster: Q7KZN9

    1 Blocks protein domain: IPB003780 Cytochrome oxidase assembly

    UniProtKB/Swiss-Prot: COX15_HUMAN, Q7KZN9
    Similarity: Belongs to the COX15/CtaA family


    Find genes that share domains with COX15           About GenesLikeMe


    (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,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: COX15_HUMAN, Q7KZN9
    Function: May be involved in the biosynthesis of heme A

         Genatlas biochemistry entry for COX15:
    cytochrome c oxidase,subunit 15,inner mitochondrial membrane in yeast,two isoforms most likely involved in
    assembly of the backbone of c oxidase

         Enzyme Numbers (IUBMB): EC 1.4.4.22 EC 3.1.3.52

         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003824catalytic activity ----
    GO:0004129cytochrome-c oxidase activity TAS9878253
    GO:0016627oxidoreductase activity, acting on the CH-CH group of donors IEA--
         
    Find genes that share ontologies with COX15           About GenesLikeMe


    Phenotypes:
         5 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Cox15):
     behavior/neurological  cellular  homeostasis/metabolism  mortality/aging  muscle 

    Find genes that share phenotypes with COX15           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Cox15tm1.2Zev for COX15

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for COX15
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for COX15

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for COX15
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for COX15

    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate COX15 (see all 38):
    hsa-miR-582-3p hsa-miR-26a-2* hsa-miR-640 hsa-miR-513a-5p hsa-miR-632 hsa-miR-371-5p hsa-miR-629* hsa-miR-23a
    SwitchGear 3'UTR luciferase reporter plasmidCOX15 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat COX15

    Gene Editing
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    GenScript: all cDNA clones in your preferred vector (see all 2): COX15 (NM_004376)
    Browse Sino Biological Human cDNA Clones
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for COX15


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    COX15_HUMAN, Q7KZN9: Mitochondrion membrane; Multi-pass membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    mitochondrion5
    plasma membrane3
    cytosol1
    nucleus1

    Gene Ontology (GO): 5 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005739mitochondrion IDA9878253
    GO:0005743mitochondrial inner membrane TAS--
    GO:0005746mitochondrial respiratory chain TAS9878253
    GO:0016020membrane ----
    GO:0016021integral component of membrane IEA--

    Find genes that share ontologies with COX15           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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    SuperPaths for COX15 About    
    See pathways by source

    SuperPathContained pathways About
    1Metabolism of porphyrins
    Metabolism of porphyrins0.56
    Heme biosynthesis0.00
    Porphyrin and chlorophyll metabolism0.56
    2Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.
    Electron Transport Chain0.75
    Oxidative phosphorylation0.64
    3Metabolism
    Metabolism0.38
    Metabolic pathways0.38
    4AMPK Enzyme Complex Pathway
    AMPK Enzyme Complex Pathway


    Find genes that share SuperPaths with COX15           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 Downloadable PowerPoint Slide of GeneGlobe Pathway Central Maps for COX15
        AMPK Enzyme Complex Pathway

    1 BioSystems Pathway for COX15
        Electron Transport Chain

    1 Reactome Pathway for COX15
        Heme biosynthesis


    3 Kegg Pathways  (Kegg details for COX15):
        Oxidative phosphorylation
    Porphyrin and chlorophyll metabolism
    Metabolic pathways

    UniProtKB/Swiss-Prot: COX15_HUMAN, Q7KZN9
    Pathway: Porphyrin-containing compound metabolism; heme A biosynthesis; heme A from heme O: step 1/1

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for COX15
    Interactions:

        Search GeneGlobe Interaction Network for COX15

    STRING Interaction Network Preview (showing 5 interactants - click image to see 18)

    Selected Interacting proteins for COX15 (Q7KZN93 ENSP000000161714) via UniProtKB, MINT, STRING, and/or I2D (see all 25)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    COX11Q9Y6N13, ENSP000002993354I2D: score=1 STRING: ENSP00000299335
    RPL27AP467763, ENSP000003460154I2D: score=1 STRING: ENSP00000346015
    COX10Q128873, ENSP000002616434I2D: score=2 STRING: ENSP00000261643
    SURF1Q155263, ENSP000003610424I2D: score=1 STRING: ENSP00000361042
    CLN3Q132863, ENSP000003530734I2D: score=3 STRING: ENSP00000353073
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006123mitochondrial electron transport, cytochrome c to oxygen IC12474143
    GO:0006778porphyrin-containing compound metabolic process TAS--
    GO:0006783heme biosynthetic process TAS--
    GO:0006784heme a biosynthetic process IGI12474143
    GO:0007585respiratory gaseous exchange TAS9878253

    Find genes that share ontologies with COX15           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for COX15

    2 HMDB Compounds for COX15    About this table
    CompoundSynonyms CAS #PubMed Ids
    Formyl-CoAFormyl coenzyme A 13131-49-2--
    Heme(protoporphyrinato)iron (see all 19)14875-96-8--



    (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,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for COX15 gene (2 alternative transcripts): 
    NM_004376.5  NM_078470.4  

    Unigene Cluster for COX15:

    Cytochrome c oxidase assembly homolog 15 (yeast)
    Hs.28326  [show with all ESTs]
    Unigene Representative Sequence: NM_078470
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000370483(uc001kqb.4 uc001kqc.4 uc010qpj.2) ENST00000016171
    ENST00000497381
    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate COX15 (see all 38):
    hsa-miR-582-3p hsa-miR-26a-2* hsa-miR-640 hsa-miR-513a-5p hsa-miR-632 hsa-miR-371-5p hsa-miR-629* hsa-miR-23a
    SwitchGear 3'UTR luciferase reporter plasmidCOX15 3' UTR sequence
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    DNA2.0 Custom Codon Optimized Gene Synthesis Service for COX15
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat COX15
    Primer
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    OriGene qPCR primer pairs and template standards for COX15
    OriGene qSTAR qPCR primer pairs in human, mouse for COX15
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat COX15
      QuantiTect SYBR Green Assays in human, mouse, rat COX15
      QuantiFast Probe-based Assays in human, mouse, rat COX15

    Additional mRNA sequence: 

    AF026850.1 AF044323.1 AK056392.1 AK291654.1 AK298864.1 BC002382.2 BC013403.2 BC078161.1 
    BT007129.1 BX537557.1 

    12 DOTS entries:

    DT.100754553  DT.413065  DT.92435352  DT.105744  DT.95378614  DT.97770356  DT.100754551  DT.100038750 
    DT.92435345  DT.95184039  DT.100738368  DT.103405 

    Selected AceView cDNA sequences (see all 247):

    BM979941 BM725343 BM723434 BU166606 BU619528 BP346841 AK001142 BQ086198 
    AI624722 AI632053 CA488811 BC028948 AI804577 BC021105 BM664278 CR622851 
    CR613820 AW613810 AI306546 NM_020354 CB160125 AV658218 AA400567 CA842068 

    GeneLoc Exon Structure


    (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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    COX15 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CTTCCTATAC
    COX15 Expression
    About this image

    COX15 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    COX15 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.28326

    UniProtKB/Swiss-Prot: COX15_HUMAN, Q7KZN9
    Tissue specificity: Predominantly found in tissues characterized by high rates of oxidative phosphorylation
    (OxPhos), including muscle, heart, and brain

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    In Situ
    Assay Products:
     

     
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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)
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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for COX15 gene from Selected species (see all 25)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Cox151 , 5 COX15 homolog, cytochrome c oxidase assembly protein more5
    cytochrome c oxidase assembly protein 151
    86.83(n)1
    90.49(a)1
      19 (36.67 cM)5
    2261391  NM_144874.41  NP_659123.21 
     437332545 
    chicken
    (Gallus gallus)
    Aves COX151 COX15 homolog, cytochrome c oxidase assembly protein more 74.81(n)
    82.87(a)
      423830  NM_001114126.1  NP_001107598.1 
    lizard
    (Anolis carolinensis)
    Reptilia COX156
    cytochrome c oxidase assembly homolog 15 (yeast)
    82(a)
    1 ↔ 1
    3(38338187-38346065)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.253892 Xenopus laevis transcribed sequence with moderate similarity more 78.71(n)    BX850630.1 
    zebrafish
    (Danio rerio)
    Actinopterygii zgc562402 similar to COX15 homolog, cytochrome c oxidase assembly more 75.02(n)   394181  BC046017.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG38031 , 3 cytochrome c oxidase biogenesis3
    CG38031
    53(a)3
    57.29(n)1
    54.92(a)1
      60A133
    378091  NM_138011.31  NP_611855.11 
    worm
    (Caenorhabditis elegans)
    Secernentea T06D8.51 , 3 YER141W3
    T06D8.51
    51(a)3
    53.11(n)1
    51.98(a)1
      II(11232812-11234851)3
    1747121  NM_064001.41  NP_496402.11 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes COX15(YER141W)4
    COX151
    Protein required for the hydroxylation of heme O to more4
    COX151
    48.83(n)1
    44.44(a)1
      5(453459-454919)4
    8568841, 4  NP_011068.11, 4 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons COX151 COX15 50.78(n)
    45.45(a)
      835708  NM_124991.3  NP_200420.1 
    rice
    (Oryza sativa)
    Liliopsida Os08g04960001 Os08g0496000 50.35(n)
    45.77(a)
      4345926  NM_001068669.1  NP_001062134.1 


    ENSEMBL Gene Tree for COX15 (if available)
    TreeFam Gene Tree for COX15 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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      --

    (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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for COX15 (see all 538)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 10 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs289397111,2,,4
    CLeigh syndrome (LS)4 pathogenic1101845862(-) TCCCTC/TGGGTC 4 R W mis1 ese31Minor allele frequency- T:0.00NA 4552
    VAR_0331174
    Leigh syndrome (LS)4--see VAR_0331172 S P mis40--------
    rs114054171,2
    C--95098327(+) AATAC-/AAAAAA 2 -- ut310--------
    rs113681361,2
    C,F--95102748(+) CTTTGT/-TGCAT 2 -- int13Minor allele frequency- -:0.50NA CSA 6
    rs2019640351,2
    C--95102748(-) ATGCAA/CCAAAG 2 -- int10--------
    rs10337571,2
    C,A,H--95103232(+) TTTTTA/TAAACA 2 -- int1 trp34Minor allele frequency- T:0.00WA NA CSA 7
    rs38326501,2
    C--95108074(-) ACCCTCT/-GTTTC 2 -- int12Minor allele frequency- -:0.00CSA 6
    rs359682761,2
    C--95108075(+) ACAGG-/AG/   
       GA
    /GG
    GTGAA
    2 -- int11NA 2
    rs353540321,2
    C--101475744(+) TTTTT-/TTAAAC 2 -- int10--------
    rs32156941,2
    C--101478000(+) TAGTTC/-CCTGC 2 -- int12Minor allele frequency- -:0.25NA CSA 4

    HapMap Linkage Disequilibrium report for COX15 (101468505 - 101492423 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for COX15: --
    Human Gene Mutation Database (HGMD): COX15
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing COX15
    DNA2.0 Custom Variant and Variant Library Synthesis for COX15

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 603646   
    OMIM disorders: 256000  615119  
    UniProtKB/Swiss-Prot: COX15_HUMAN, Q7KZN9
  • Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2 (CEMCOX2)
    [MIM:615119]: An infantile disorder, with a rapidly progressive fatal course, characterized by cytochrome c
    oxidase deficiency. Clinical features include microcephaly, encephalopathy, hypertrophic cardiomyopathy,
    persistent lactic acidosis, respiratory distress, hypotonia and seizures. Postmortem cardiac muscle studies show
    marked complex IV deficiency. Complex IV activity is only slightly decreased in the skeletal muscle. Note=The
    disease is caused by mutations affecting the gene represented in this entry
  • Leigh syndrome (LS) [MIM:256000]: An early-onset progressive neurodegenerative disorder characterized by
    the presence of focal, bilateral lesions in one or more areas of the central nervous system including the
    brainstem, thalamus, basal ganglia, cerebellum and spinal cord. Clinical features depend on which areas of the
    central nervous system are involved and include subacute onset of psychomotor retardation, hypotonia, ataxia,
    weakness, vision loss, eye movement abnormalities, seizures, and dysphagia. Note=The disease is caused by
    mutations affecting the gene represented in this entry

  • 12 diseases for COX15:    
    About MalaCards
    cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2    leigh syndrome due to cytochrome c oxidase deficiency    leigh syndrome due to mitochondrial cox4 deficiency    cardioencephalomyopathy
    leigh syndrome, due to cox deficiency    cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1    leigh syndrome with cardiomyopathy    mitochondrial dna deletion syndromes
    leigh syndrome due to mitochondrial complex i deficiency    cytochrome-c oxidase deficiency disease    mitochondrial dna-associated leigh syndrome and narp    leigh disease

    2 diseases from the University of Copenhagen DISEASES database for COX15:
    Leigh disease     Hypertrophic cardiomyopathy

    Find genes that share disorders with COX15           About GenesLikeMe

    2 Novoseek inferred disease relationships for COX15 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    cytochrome c oxidase deficiency 92.9 1 15863660 (1)
    leigh syndrome 85.8 6 15863660 (2), 12928484 (1)

    Genetic Association Database (GAD): COX15
    Human Genome Epidemiology (HuGE) Navigator: COX15 (2 documents)

    Export disorders for COX15 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)
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    PubMed articles for COX15 gene, integrated from 10 sources (see all 31):
    (articles sorted by number of sources associating them with COX15)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Identification and characterization of human cDNAs specific to BCS1, PET112, SCO1, COX15, and COX11, five genes involved in the formation and function of the mitochondrial respiratory chain. (PubMed id 9878253)1, 2, 3 Petruzzella V....Zeviani M. (Genomics 1998)
    2. Mutations in COX15 produce a defect in the mitochondrial heme biosynthetic pathway, causing early-onset fatal hypertrophic cardiomyopathy. (PubMed id 12474143)1, 2, 9 Antonicka H.... Shoubridge E.A. (Am. J. Hum. Genet. 2003)
    3. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PubMed id 20877624)1, 4 Hendrickson S.L....O'Brien S.J. (PLoS ONE 2010)
    4. Analysis of the genes coding for subunit 10 and 15 of cytochrome c oxidase in Alzheimer's disease. (PubMed id 19826901)1, 4 Vitali M....Finazzi D. (J Neural Transm 2009)
    5. Functional and genetic studies demonstrate that mutation in the COX15 gene can cause Leigh syndrome. (PubMed id 15235026)1, 2 Oquendo C.E.... Brown G.K. (J. Med. Genet. 2004)
    6. 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. (Genome Res. 2004)
    7. Novel mutations in COX15 in a long surviving Leigh syndrome patient with cytochrome c oxidase deficiency. (PubMed id 15863660)2, 9 Bugiani M.... Zeviani M. (J. Med. Genet. 2005)
    8. Drafting the CLN3 protein interactome in SH-SY5Y human neuroblastoma cells: a label-free quantitative proteomics approach. (PubMed id 23464991)1 Scifo E....Lalowski M. (J. Proteome Res. 2013)
    9. Pathway Analysis of ChIP-Seq-Based NRF1 Target Genes Suggests a Logical Hypothesis of their Involvement in the Pathogenesis of Neurodegenerative Diseases. (PubMed id 24250222)1 Satoh J....Yamamoto Y. (Gene Regul Syst Bio 2013)
    10. A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (Cell 2012)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     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

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    Entrez Gene: 1355 HGNC: 2263 AceView: CUTCandENTPD7 Ensembl:ENSG00000014919 euGenes: HUgn1355
    ECgene: COX15 Kegg: 1355 H-InvDB: COX15

    (According to HUGE)
    About This Section

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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for COX15 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

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    Patent Information for COX15 gene:
    Search GeneIP for patents involving COX15

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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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