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

COX15 Gene

protein-coding   GIFtS: 59
GCID: GC10M101461

cytochrome c oxidase assembly homolog 15 (yeast)

(Previous names: COX15 (yeast) homolog, cytochrome c oxidase assembly protein,...)
 Explore 10 diseases affiliated with
COX15 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for COX15    

Aliases
for COX15 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 Assembly Homolog 15 (Yeast)1 2     Cytochrome C Oxidase Assembly Protein COX15 Homolog2
COX15 (Yeast) Homolog, Cytochrome C Oxidase Assembly Protein1     Cytochrome C Oxidase Subunit 152
COX15 Homolog, Cytochrome C Oxidase Assembly Protein (Yeast)1     EC 1.4.4.28
COX15 Homolog, Cytochrome C Oxidase Assembly Protein2     EC 3.1.3.58

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


Summaries
for COX15 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 COX15:
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)

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

Gene Wiki entry for COX15


Genomic Views
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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000010.10  NC_018921.1  NT_030059.13  
Regulatory elements:
   SABiosciences 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 plasmid: COX15 promoter sequence
   Search SABiosciences Chromatin IP Primers for COX15

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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

Proteins
for COX15 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: COX15_HUMAN, Q7KZN9 (See protein sequence)
Recommended Name: Cytochrome c oxidase assembly protein COX15 homolog  
Size: 410 amino acids; 46030 Da
Subcellular location: Mitochondrion membrane; Multi-pass membrane protein
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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q7KZN9

    • 2 DME Specific Peptides for COX15 (Q7KZN9)
     RNVFENP  SGTVAGA 

    COX15 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

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

    ENSEMBL proteins: 
     ENSP00000359514   ENSP00000016171  

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    Novus Biologicals COX15 Proteins
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    Uscn Proteins for COX15

    Gene Ontology (GO): 5 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005739mitochondrion IDA9878253
    GO:0005743mitochondrial inner membrane ----
    GO:0005746mitochondrial respiratory chain TAS9878253
    GO:0016021integral to membrane IEA--
    GO:0044429mitochondrial part ----


    COX15 for ontologies           About GeneDecksing



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    ThermoFisher Antibodies for COX15

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    Uscn ELISAs and CLIAs for COX15

    Protein Domains /
    Families
    for COX15 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    COX15 for domains           About GeneDecksing

    3 InterPro domains/families:
     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 family: IPB003780 Cytochrome oxidase assembly

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


    Function
    for COX15 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: 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

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat COX15
    8/38 QIAGEN miScript miRNA 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 plasmid: COX15 3' UTR sequence
    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for COX15 (see all 7)
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    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat COX15

    Gene Editing
    Products:    		DNA2.0 Custom Protein Engineering Service for COX15

    Clone
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    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for COX15 (see all 5)
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat COX15 

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    In Situ Assay
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         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for COX15

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004129cytochrome-c oxidase activity TAS9878253
    GO:0016627oxidoreductase activity, acting on the CH-CH group of donors IEA--


    COX15 for ontologies           About GeneDecksing


    Animal Models:
         Mouse knock-out Cox15tm1.2Zev for COX15
         5 MGI mutant phenotypes (inferred from 2 alleles) (MGI details for Cox15):
     behavior/neurological  cellular  homeostasis/metabolism  mortality/aging  muscle 

    COX15 for phenotypes           About GeneDecksing


    Pathways & Interactions
    for COX15 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
    		Oxidative phosphorylation0.63
    2AMPK Enzyme Complex Pathway
    		AMPK Enzyme Complex Pathway1.00
    3Metabolism
    		Metabolic pathways0.38
    4Glucuronidation
    		Porphyrin and chlorophyll metabolism0.38

    Pathway sources
    See GeneCards unified pathways
    Show all pathways

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

    1 BioSystems Pathway for COX15 
        Electron Transport Chain


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

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


    COX15 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for COX15

    STRING Interaction Network Preview (showing 5 interactants - click image to see 9)

    5/17 Interacting proteins for COX15 (Q7KZN93 ENSP000000161714) via UniProtKB, MINT, STRING, and/or I2D (see all 17)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    COX11Q9Y6N13, ENSP000002993354I2D: score=1 STRING: ENSP00000299335
    RPL27AP467763, ENSP000003460154I2D: score=1 STRING: ENSP00000346015
    CLN3Q132863, ENSP000003530734I2D: score=3 STRING: ENSP00000353073
    COX10Q128873, ENSP000002616434I2D: score=2 STRING: ENSP00000261643
    UBCP0CG483, ENSP000003448184I2D: score=1 STRING: ENSP00000344818
    About this table

    Gene Ontology (GO): 5/6 biological process terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006123mitochondrial electron transport, cytochrome c to oxygen IC12474143
    GO:0006784heme a biosynthetic process IGI12474143
    GO:0007585respiratory gaseous exchange TAS9878253
    GO:0008535respiratory chain complex IV assembly IMP12474143
    GO:0045333cellular respiration IC12474143


    COX15 for ontologies           About GeneDecksing



    Drugs & Compounds
    for COX15 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
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    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--
    Search CenterWatch for drugs/clinical trials and news about COX15 

    Transcripts
    for COX15 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 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
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000370483(uc001kqb.4 uc001kqc.4 uc010qpj.2) ENST00000016171
    ENST00000497381 ENST00000485884

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat COX15
    8/38 QIAGEN miScript miRNA 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 plasmid: COX15 3' UTR sequence
    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 COX15 (see all 7)
    OriGene shRNA RFP: COX15
    OriGene siRNA: COX15
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat COX15
    Clone
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    GenScript: all cDNA clones in your preferred vector (see all 2): COX15 (NM_004376)
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    Primer
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat COX15
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat COX15

    Additional cDNA 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 

    24/247 AceView cDNA sequences (see all 247):

    CA488811 AI306546 BU188626 BM706414 CR622851 AW571619 AA400567 CR613820 
    BI828517 AK001142 AI624722 AA316209 BM972169 AW512601 BQ086198 CA306257 
    AA778282 AA806736 CK822911 BM664278 BG740065 BQ021214 AI632053 AK055540 

    GeneLoc Exon Structure


    Expression
    for COX15 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

    COX15 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: CTTCCTATAC

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

    COX15 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    1 LifeMap In Vivo Development Anatomical Compartment/Cell 
    Tissue Anatomical Compartment CellCategory (developmental path)
    LungLung BudLung
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See COX15 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for COX15

    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:     
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for COX15

    Orthologs
    for COX15 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 eukaryotes.

    Orthologs for COX15 gene from 10/36 species (see all 36)    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    		 86.91(n)1
    90.24(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
    		 --
    		 82(a)
    		 1 ↔ 1
    		 3(38338187-38345102)
    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
    57.47(n)1
    55.19(a)1    		   60A133
    378091  NM_138011.21  NP_611855.11 
    worm
    (Caenorhabditis elegans)    		 Secernentea T06D8.51 , 3 YER141W3
    Protein T06D8.51    		 51(a)3
    53.8(n)1
    53.51(a)1    		   II(11232812-11234851)3
    1747121  NM_064001.31  NP_496402.11 
    baker's yeast
    (Saccharomyces cerevisiae)    		 Saccharomycetes COX15(YER141W)4
    COX151    		 Protein required for the hydroxylation of heme O to more4
    Cox15p1    		 49.07(n)1
    44.84(a)1    		   5(453459-454919)4
    8568841, 4  NP_011068.11, 4 
    thale cress
    (Arabidopsis thaliana)    		 eudicotyledons COX151 cytochrome c oxidase subunit XV assembly protein 50.78(n)
    45.45(a)    		   835708  NM_124991.3  NP_200420.1 
    rice
    (Oryza sativa)    		 Liliopsida Os08g04960001 hypothetical protein 50.96(n)
    47.11(a)    		   4345926  NM_001068669.1  NP_001062134.1 


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

    Paralogs
    for COX15 gene

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

    Genomic Variants
    for COX15 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

    10/420 NCBI SNPs in COX15 are shown (see all 420)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 10 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs289397111,2
    		Cpathogenic142152162(-) TCCCTC/TGGGTC 4 R W mis1 ese31Minor allele frequency- T:0.00NA 4552
    rs79133071,2
    		H--95095836(+) GTCCTT/CTGGTT 2 -- ds50014Minor allele frequency- C:0.00NS EA 412
    rs618703981,2
    		C,F,--95095900(+) ATAAGG/ATTGGT 2 -- ds50013Minor allele frequency- A:0.04NA 124
    rs104909411,2
    		C,F,H,--95096167(+) TTACAA/GCTGCT 2 -- ut3113Minor allele frequency- G:0.04NS EA NA WA 778
    rs741527221,2
    		C,--95096205(+) TCACAT/CTTAGG 2 -- ut312Minor allele frequency- C:0.04WA 120
    rs562066891,2
    		C,--95096530(+) ATCTAC/ATTGTC 2 -- ut311Minor allele frequency- A:0.50WA 2
    rs765303371,2
    		F,--95096823(+) AAAACT/CTTTAG 2 -- ut311Minor allele frequency- C:0.04NA 120
    rs733451411,2
    		C,--95096979(+) TCCTTA/GTATCC 2 -- ut312Minor allele frequency- G:0.07WA 120
    rs766561251,2
    		F,--95097022(+) TCTTTT/CGCTCT 2 -- ut311Minor allele frequency- C:0.03WA 118
    rs122419121,2
    		F,--95097076(+) GACGAG/AGAAGG 2 -- ut311Minor allele frequency- A:0.03WA 118

    HapMap Linkage Disequilibrium report for COX15 (101468505 - 101492423 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for COX15: --
    Human Gene Mutation Database (HGMD): COX15

    SABiosciences Cancer Mutation PCR Assays
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    Disorders / Diseases
    for COX15 gene

    (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.)
    About This Section
    COX15 for disorders           About GeneDecksing

    OMIM gene information: 603646   
    OMIM disorders: 256000  
    UniProtKB/Swiss-Prot: COX15_HUMAN, Q7KZN9
  • Defects in COX15 are a cause of mitochondrial complex IV deficiency (MT-C4D) [MIM:220110]; also known as
    • cytochrome c oxidase deficiency. A disorder of the mitochondrial respiratory chain with heterogeneous clinical
    manifestations, ranging from isolated myopathy to severe multisystem disease affecting several tissues and organs.
    Features include hypertrophic cardiomyopathy, hepatomegaly and liver dysfunction, hypotonia, muscle weakness,
    excercise intolerance, developmental delay, delayed motor development and mental retardation. A subset of patients
    manifest Leigh syndrome
  • Defects in COX15 are a cause of 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

    10 diseases for COX15:    About MalaCards
    cardiomyopathy, hypertrophic, early-onset fatal    leigh syndrome due to cytochrome c oxidase deficiency    hypertrophic cardiomyopathy    leigh disease
    cardiomyopathy    balanitis    hypotonia    alzheimer's disease
    ataxia    malaria

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

    2 Novoseek 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)

    Human Genome Epidemiology (HuGE) Navigator: COX15 (2 documents)

    Export disorders for COX15 gene to outside databases

    Publications
    for COX15 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 COX15 gene, integrated from 9 sources (see all 27):
    (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. (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. (2003)
    3. 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. (2004)
    4. 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)
    5. 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. (2005)
    6. A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (2012)
    7. A genome-wide scan of Ashkenazi Jewish Crohn's disease suggests novel susceptibility loci. (PubMed id 22412388)1 Kenny E.E....Peter I. (2012)
    8. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (2011)
    9. Systematic and quantitative assessment of the ubiquiti n-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (2011)
    10. Network organization of the human autophagy system. (PubMed id 20562859)1 Behrends C....Harper J.W. (2010)

    External Searches for COX15 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  
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    Genome Databases showing COX15 gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 1355 HGNC: 2263 AceView: CUTCandENTPD7 Ensembl:ENSG00000014919 euGenes: HUgn1355
    ECgene: COX15 Kegg: 1355 H-InvDB: COX15

    Other Databases showing COX15 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing COX15 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 COX15 Pharmacogenomics, SNPs, Pathways

    Intellectual Property
    for COX15 gene

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



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