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COX8C Gene

protein-coding   GIFtS: 40
GCID: GC14P093813

Cytochrome C Oxidase Subunit VIIIC

(Previous name: cytochrome c oxidase subunit 8C)
Alzheimer's & Parkinson's Diseases Congress
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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 Subunit VIIIC1 2     Cytochrome C Oxidase Polypeptide 82
Cytochrome C Oxidase Subunit 8-32 3     Cytochrome C Oxidase Polypeptide VIII2
COX VIII-32 3     Cytochrome C Oxidase Subunit 8C, Mitochondrial2
Cytochrome C Oxidase Subunit 8C1     Cytochrome C Oxidase Subunit VIII2
Cytochrome C Oxidase Subunit VIII Isoform 31     Cytochrome C Oxidase Polypeptide 8 Isoform 33
COX8-32     Cytochrome C Oxidase Polypeptide VIII Isoform 33

External Ids:    HGNC: 243821   Entrez Gene: 3419472   Ensembl: ENSG000001875817   UniProtKB: Q7Z4L03   

Export aliases for COX8C gene to outside databases

Previous GC identifers: GC14P091803 GC14P092883 GC14P073993


(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 COX8C Gene:
COX8C (cytochrome c oxidase subunit VIIIC) is a protein-coding gene. Diseases associated with COX8C include huntington's disease, and fatty liver disease. GO annotations related to this gene include cytochrome-c oxidase activity.

UniProtKB/Swiss-Prot: COX8C_HUMAN, Q7Z4L0
Function: This protein is one of the nuclear-coded polypeptide chains of cytochrome c oxidase, the terminal
oxidase in mitochondrial electron transport




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 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 COX8C gene promoter:
         TBP   Spz1   Sp1   LUN-1   GATA-1   MEF-2A   HSF2   aMEF-2   TGIF   Hlf   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCOX8C promoter sequence
   Search Chromatin IP Primers for COX8C

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat COX8C


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

Entrez Gene cytogenetic band: 14q32.12   Ensembl cytogenetic band:  14q32.12   HGNC cytogenetic band: 14q32.13

COX8C Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
COX8C gene location

GeneLoc information about chromosome 14         GeneLoc Exon Structure

GeneLoc location for GC14P093813:  view genomic region     (about GC identifiers)

Start:
93,813,537 bp from pter      End:
93,814,702 bp from pter
Size:
1,166 bases      Orientation:
plus 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: COX8C_HUMAN, Q7Z4L0 (See protein sequence)
Recommended Name: Cytochrome c oxidase subunit 8C, mitochondrial precursor  
Size: 72 amino acids; 8129 Da
Secondary accessions: Q495K7

Explore the universe of human proteins at neXtProt for COX8C: NX_Q7Z4L0

Explore proteomics data for COX8C at MOPED


See COX8C Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins: NP_892016.1  
ENSEMBL proteins: 
 ENSP00000340568  

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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:
comIV: Mitochondrial respiratory chain complex / Complex IV

2 InterPro protein domains:
 IPR003205 Cyt_c_oxidase_su8
 IPR016070 Cyt_c_oxidase_su8/PSI_RC_su9

Graphical View of Domain Structure for InterPro Entry Q7Z4L0

ProtoNet protein and cluster: Q7Z4L0

1 Blocks protein domain: IPB003205 Cytochrome oxidase c

UniProtKB/Swiss-Prot: COX8C_HUMAN, Q7Z4L0
Similarity: Belongs to the cytochrome c oxidase VIII family


COX8C 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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Molecular Function:

     UniProtKB/Swiss-Prot Summary: COX8C_HUMAN, Q7Z4L0
Function: This protein is one of the nuclear-coded polypeptide chains of cytochrome c oxidase, the terminal
oxidase in mitochondrial electron transport

     Gene Ontology (GO): 1 molecular function term:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0004129cytochrome-c oxidase activity IEA--
     
COX8C for ontologies           About GeneDecksing


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
COX8C_HUMAN, Q7Z4L0: Mitochondrion inner membrane
Subcellular locations from COMPARTMENTS: 

CompartmentConfidence
mitochondrion5
extracellular2

Gene Ontology (GO): 3 cellular component terms:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0005739mitochondrion IDA12762575
GO:0005743mitochondrial inner membrane IEA--
GO:0016021integral component of membrane IEA--

COX8C 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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SuperPaths for COX8C About    
See pathways by source

SuperPathContained pathways About
1Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.
Oxidative phosphorylation0.64
Huntington's disease0.45
Parkinson's disease0.57
Non-alcoholic fatty liver disease (NAFLD)0.41
2Alzheimer's disease
Alzheimer's disease0.44
3Metabolism
Metabolic pathways0.38
4Cardiac muscle contraction
Cardiac muscle contraction

Pathways by source                                                                                                                                                                 See SuperPaths
Show all pathways

1 Downloadable PowerPoint Slide of GeneGlobe Pathway Central Maps for COX8C
    AMPK Enzyme Complex Pathway


Selected Kegg Pathways  (Kegg details for COX8C) (see all 7):
    Oxidative phosphorylation
Metabolic pathways
Cardiac muscle contraction
Non-alcoholic fatty liver disease (NAFLD)
Alzheimer's disease


COX8C for pathways           About GeneDecksing

    Pathway & Disease-focused RT2 Profiler PCR Array including COX8C: 
          Mitochondrial Energy Metabolism in human mouse rat

Interactions:

    Search GeneGlobe Interaction Network for COX8C

(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 drugs & compounds from Enzo Life Sciences
  Browse compounds at ApexBio 

Browse Tocris compounds for COX8C

2 HMDB Compounds for COX8C    About this table
CompoundSynonyms CAS #PubMed Ids
OxygenOxygen (see all 5)7782-44-7--
WaterDihydrogen oxide (see all 2)7732-18-5--



(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 COX8C gene: 
NM_182971.2  

1 Ensembl transcript including schematic representation, and UCSC links where relevant:
ENST00000342144(uc001ybt.1)

miRNA
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12 AceView cDNA sequences:

AW182519 BE466670 AI217104 AA983928 AY161004 AW269756 AI217106 NM_182971 
AI808907 AW269746 AW104540 AW173010 

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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COX8C expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: TTTATGATGA
COX8C Expression
About this image

COX8C Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

COX8C Protein Expression

UniProtKB/Swiss-Prot: COX8C_HUMAN, Q7Z4L0
Tissue specificity: It is not yet known where COX8C is expressed

    Pathway & Disease-focused RT2 Profiler PCR Array including COX8C: 
          Mitochondrial Energy Metabolism in human mouse rat

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In Situ
Assay Products:
 

 
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for COX8C

(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 human and mouse.

Orthologs for COX8C gene from 1 species (see representative species )    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
mouse
(Mus musculus)
Mammalia Cox8c5 cytochrome c oxidase, subunit VIIIc   --   12 (52.55 cM) 102899306 


ENSEMBL Gene Tree for COX8C (if available)
TreeFam Gene Tree for COX8C (if available)

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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Paralogs for COX8C gene
2 SIMAP similar genes for COX8C using alignment to 1 protein entry:     COX8C_HUMAN:
COX8    COX8A

COX8C for paralogs           About GeneDecksing


3 Pseudogenes.org Pseudogenes for COX8C
PGOHUM00000243106 PGOHUM00000235964 PGOHUM00000245313


(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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Site Specific Mutation Identification with PCR Assays
SeqTarget long-range PCR primers for resequencing COX8C
DNA2.0 Custom Variant and Variant Library Synthesis for COX8C

(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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6 diseases for COX8C:    
About MalaCards
huntington's disease    fatty liver disease    parkinson's disease    alzheimer's disease
hiv-1    liver disease


COX8C for disorders           About GeneDecksing


Congresses - knowledge worth sharing:
Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015
Genetic Association Database (GAD): COX8C
Human Genome Epidemiology (HuGE) Navigator: COX8C (1 document)

Export disorders for COX8C 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 COX8C gene integrated from 10 sources:
(articles sorted by number of sources associating them with COX8C)
    Utopia: connect your pdf to the dynamic
world of online information

  1. A third isoform of cytochrome c oxidase subunit VIII is present in mammals. (PubMed id 12909344)1, 2, 3 Huettemann M.... Grossman L.I. (Gene 2003)
  2. 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)
  3. 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)
  4. HIV-1 Tat protein directly induces mitochondrial membrane permeabilization and inactivates cytochrome c oxidase. (PubMed id 22419111)1 Lecoeur H....Jacotot E. (amp 2012)
  5. Genetic aspects of susceptibility to air pollution. (PubMed id 12762575)1 Kleeberger S.R. (Eur Respir J Suppl 2003)
  6. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002)

(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: 341947 HGNC: 24382 AceView: COX8C Ensembl:ENSG00000187581 euGenes: HUgn341947
ECgene: COX8C Kegg: 341947 H-InvDB: COX8C

(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 COX8C 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 COX8C gene:
Search GeneIP for patents involving COX8C

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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The GeneCards human gene database gene index: 1 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

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