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

COX16 Gene

protein-coding   GIFtS: 43
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)
About This Section

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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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. GO annotations related to this gene include molecular_function.


(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_000014.8  NC_018925.2  NT_026437.12  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for COX16

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 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: COX16_HUMAN, Q9P0S2 (See protein sequence)
Recommended Name: Cytochrome c oxidase assembly protein COX16 homolog, mitochondrial precursor  
Size: 106 amino acids; 12293 Da
Subcellular location: Mitochondrion membrane; Single-pass membrane protein (Potential)
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:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9P0S2

  • COX16 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    COX16 Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_001191019.1  NP_057552.1  

    ENSEMBL proteins: 
     ENSP00000374562   ENSP00000450871  

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    Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view):    About this table

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

    COX16 for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    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,
    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

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




    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks 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 (GO ID links to tree view):    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 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
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for COX16

    Search CenterWatch for drugs/clinical trials and news about 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,
    RNAi Products from EMD Millipore,
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    About This Section

    REFSEQ mRNAs for COX16 gene (2 alternative transcripts): 
    NM_001204090.1  NM_016468.6  

    Unigene Cluster for COX16:

    COX16 cytochrome c oxidase assembly homolog (S. cerevisiae)
    Hs.709581  [show with all ESTs]
    Unigene Representative Sequence: NM_001202547
    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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    Additional mRNA sequence: 

    AF151037.1 AK290743.1 BC001702.2 CR457199.1 FJ460510.1 FJ460511.1 

    18 DOTS entries:

    DT.447101  DT.101986243  DT.92445266  DT.317641  DT.100672684  DT.120753732  DT.40303621  DT.120753728 
    DT.40238289  DT.120753702  DT.92445261  DT.95270949  DT.100736078  DT.120753729  DT.92005252  DT.92427003 
    DT.92445253  DT.95270947 

    24/511 AceView cDNA sequences (see all 511):

    AA811398 CR622530 AI051431 AA761275 CF130275 AA481001 C02620 BQ023253 
    W56699 W46996 BQ574836 AA854953 AA806448 CD677832 AA308541 AA866190 
    AA430210 W74556 BM788927 BM799209 AA931477 BX426019 BX404821 CR594391 

    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™, 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

    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


    See COX16 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for COX16

    SOURCE GeneReport for Unigene cluster: Hs.709581
        SABiosciences 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)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for COX16 gene from 4/10 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) 63.45(n)
    66.27(a)
      550257  NM_001017594.1  NP_001017594.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta l(3)neo436
    lethal (3) neo43
    41(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)
    About This Section
    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) 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
    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for COX16:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2748836CNV Deletion23290073
    esv2748835CNV Deletion23290073
    nsv902075CNV Gain21882294

    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, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    3 diseases for COX16:    About MalaCards
    intrahepatic cholangiocarcinoma    cholangiocarcinoma    gastric cancer


    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)
    About This Section

    PubMed articles for COX16 gene, integrated from 9 sources (see all 13):
    (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. (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. (2000)
    3. Genetic variants in nuclear-encoded mitochondrial gen es influence AIDS progression. (PubMed id 20877624)1, 4 Hendrickson S.L....O'Brien S.J. (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. (2004)
    5. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (2011)
    6. hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes. (PubMed id 17207965)1 Lamesch P.... Vidal M. (2007)
    7. 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. (2006)
    8. Transcriptome analysis of human gastric cancer. (PubMed id 16341674)1 Oh J.H....Kim N.S. (2005)
    9. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)2 Ota T.... Sugano S. (2004)
    10. The DNA sequence and analysis of human chromosome 14. (PubMed id 12508121)2 Heilig R.... Weissenbach J. (2003)

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

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

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 51241 HGNC: 20213 AceView: C14orf112andSYNJ2BP Ensembl:ENSG00000133983 euGenes: HUgn51241
    ECgene: COX16 H-InvDB: COX16

    (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 COX16 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 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, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
    About This Section

     
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     Proteins for COX16
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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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    (GIFtS: 73)
    transforming growth factor, beta 1
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