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COX16 Gene

protein-coding   GIFtS: 41
GCID: GC14M070791

COX16 Cytochrome C Oxidase Assembly Homolog (S. Cerevisiae)

(Previous name: chromosome 14 open reading frame 112)
(Previous symbol: C14orf112)
  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)
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Aliases
COX16 Cytochrome C Oxidase Assembly Homolog (S. Cerevisiae)1 2
C14orf1121 2 3
Chromosome 14 Open Reading Frame 1121
Cytochrome C Oxidase Assembly Factor2
Cytochrome C Oxidase Assembly Protein COX16 Homolog, Mitochondrial2

External Ids:    HGNC: 202131   Entrez Gene: 512412   Ensembl: ENSG000001339837   UniProtKB: Q9P0S23   

Export aliases for COX16 gene to outside databases

Previous GC identifers: GC14M069863 GC14M069682 GC14M050959


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for COX16 Gene:
COX16 (COX16 cytochrome c oxidase assembly homolog (S. cerevisiae)) is a protein-coding gene. Diseases associated with COX16 include intrahepatic cholangiocarcinoma, and cholangiocarcinoma.


(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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Regulatory elements:
   Regulatory transcription factor binding sites in the COX16 gene promoter:
         Nkx3-1   SRF   ATF-2   SRF (504 AA)   Nkx3-1 v1   HNF-3beta   MEF-2A   HFH-1   aMEF-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCOX16 promoter sequence
   Search Chromatin IP Primers for COX16

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat COX16


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

Entrez Gene cytogenetic band: 14q24.2   Ensembl cytogenetic band:  14q24.2   HGNC cytogenetic band: 14q24.2

COX16 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
COX16 gene location

GeneLoc information about chromosome 14         GeneLoc Exon Structure

GeneLoc location for GC14M070791:  view genomic region     (about GC identifiers)

Start:
70,791,798 bp from pter      End:
70,826,448 bp from pter
Size:
34,651 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, 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., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: COX16_HUMAN, Q9P0S2 (See protein sequence)
Recommended Name: Cytochrome c oxidase assembly protein COX16 homolog, mitochondrial precursor  
Size: 106 amino acids; 12293 Da
Miscellaneous: No COX16 mutations have been detected in patients with cytochrome c oxidase (COX) deficiency
Secondary accessions: A6NDT5 A8K3X8

Explore the universe of human proteins at neXtProt for COX16: NX_Q9P0S2

Explore proteomics data for COX16 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See COX16 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001191019.1  NP_057552.1  

    ENSEMBL proteins: 
     ENSP00000374562   ENSP00000450871  

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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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    1 InterPro protein domain:
     IPR020164 Cyt_c_Oxase_assmbl_COX16

    Graphical View of Domain Structure for InterPro Entry Q9P0S2

    ProtoNet protein and cluster: Q9P0S2

    UniProtKB/Swiss-Prot: COX16_HUMAN, Q9P0S2
    Similarity: Belongs to the COX16 family


    COX16 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,
    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, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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         Gene Ontology (GO): 1 molecular function term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003674molecular_function ND--
         
    COX16 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for COX16:
     Increased gamma-H2AX phosphory 

    Animal Models:
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    (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
    COX16_HUMAN, Q9P0S2: Mitochondrion membrane; Single-pass membrane protein (Potential)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    mitochondrion5
    extracellular3

    Gene Ontology (GO): 4 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005575cellular_component ND--
    GO:0005739mitochondrion ----
    GO:0016021integral component of membrane IEA--
    GO:0031966mitochondrial membrane IEA--

    COX16 for ontologies           About GeneDecksing


    (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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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for COX16
    Interactions:

        Search GeneGlobe Interaction Network for COX16

    2 Interacting proteins for COX16 (Q9P0S23) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    BECN1Q144573I2D: score=1 
    PSMA4P257893I2D: score=1 
    About this table

    Gene Ontology (GO): 1 biological process term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0008150biological_process ND--

    COX16 for ontologies           About GeneDecksing



    (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 COX16



    (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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for COX16 gene (2 alternative transcripts): 
    NM_001204090.1  NM_016468.6  

    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000389912(uc001xmb.3 uc021rvl.1 uc021rvm.1 uc021rvn.1 uc021rvo.1)
    ENST00000554366 ENST00000557612 ENST00000555601
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    Selected AceView cDNA sequences (see all 511):

    AA555224 D62698 AA761275 T79428 CA397787 CR622530 AW000893 AA854953 
    AV647846 AI286020 BM974526 CF130275 AA308541 AA866190 AA430210 W74556 
    BM788927 BM799209 AA931477 BX426019 BX404821 CR594391 AI086431 CR603483 

    GeneLoc Exon Structure

    3 Alternative Splicing Database (ASD) splice patterns (SP) for COX16    About this scheme

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


    ECgene alternative splicing isoforms for COX16

    (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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    COX16 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TACAGGTTTT
    COX16 Expression
    About this image

    COX16 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    COX16 Protein Expression
        Custom PCR Arrays for COX16
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for COX16

    (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 animals.

    Orthologs for COX16 gene from Selected species (see all 10)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Cox161 , 5 COX16 cytochrome c oxidase assembly homolog (S. cerevisiae)5
    cytochrome c oxidase assembly protein 161
    85.53(n)1
    84.91(a)1
      12 (37.60 cM)5
    662721  NM_025461.51  NP_079737.11 
     813590265 
    chicken
    (Gallus gallus)
    Aves COX161 COX16 cytochrome c oxidase assembly homolog (S. cerevisiae) 58.92(n)
    57.58(a)
      423257  NM_001197057.1  NP_001183986.1 
    zebrafish
    (Danio rerio)
    Actinopterygii cox161 COX16 cytochrome c oxidase assembly homolog (S. cerevisiae) 64.26(n)
    67.47(a)
      550257  NM_001017594.1  NP_001017594.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta l(3)neo436
    lethal (3) neo43
    42(a)
    1 ↔ 1
    3R(11103870-11104351)


    ENSEMBL Gene Tree for COX16 (if available)
    TreeFam Gene Tree for COX16 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for COX16 gene

    COX16 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for COX16
    PGOHUM00000234232


    (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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    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for COX16:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2748836CNV Deletion23290073
    esv2748835CNV Deletion23290073
    nsv902075CNV Gain21882294

    Site Specific Mutation Identification with 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, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    2 diseases for COX16:    
    About MalaCards
    intrahepatic cholangiocarcinoma    cholangiocarcinoma


    COX16 for disorders           About GeneDecksing

    Genetic Association Database (GAD): COX16
    Human Genome Epidemiology (HuGE) Navigator: COX16 (2 documents)

    Export disorders for COX16 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 COX16 gene, integrated from 10 sources (see all 14):
    (articles sorted by number of sources associating them with COX16)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Studies of COX16, COX19, and PET191 in human cytochrome-c oxidase deficiency. (PubMed id 15596615)1, 2, 3 Tay S.K.H.... Dimauro S. (Arch. Neurol. 2004)
    2. Cloning and functional analysis of cDNAs with open reading frames for 300 previously undefined genes expressed in CD34+ hematopoietic stem/progenitor cells. (PubMed id 11042152)1, 2, 3 Zhang Q.-H.... Chen Z. (Genome Res. 2000)
    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. 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)
    5. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (BMC Syst. Biol. 2011)
    6. A whole genome screen for HIV restriction factors. (PubMed id 22082156)1 Liu L....McKnight A. (Retrovirology 2011)
    7. hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes. (PubMed id 17207965)1 Lamesch P.... Vidal M. (Genomics 2007)
    8. Identification of intrahepatic cholangiocarcinoma related genes by comparison with normal liver tissues using expressed sequence tags. (PubMed id 16712791)1 Wang A.G....Kim N.S. (Biochem. Biophys. Res. Commun. 2006)
    9. Transcriptome analysis of human gastric cancer. (PubMed id 16341674)1 Oh J.H.... Kim N.S. (Mamm. Genome 2005)
    10. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)2 Ota T.... Sugano S. (Nat. Genet. 2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    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)
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    Entrez Gene: 51241 HGNC: 20213 AceView: C14orf112andSYNJ2BP Ensembl:ENSG00000133983 euGenes: HUgn51241
    ECgene: COX16 H-InvDB: COX16

    (According to HUGE)
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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)
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    NameDescription
    PharmGKB entry for COX16 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for COX16 gene:
    Search GeneIP for patents involving COX16

    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, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, 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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    GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014

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