Human Gene COX8C (ENST00000342144.3) from GENCODE V44
  Description: Homo sapiens cytochrome c oxidase subunit 8C (COX8C), mRNA; nuclear gene for mitochondrial product. (from RefSeq NM_182971)
Gencode Transcript: ENST00000342144.3
Gencode Gene: ENSG00000187581.3
Transcript (Including UTRs)
   Position: hg38 chr14:93,347,182-93,348,356 Size: 1,175 Total Exon Count: 2 Strand: +
Coding Region
   Position: hg38 chr14:93,347,269-93,348,120 Size: 852 Coding Exon Count: 2 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr14:93,347,182-93,348,356)mRNA (may differ from genome)Protein (72 aa)
Gene SorterGenome BrowserOther Species FASTATable SchemaAlphaFoldBioGPS
EnsemblEntrez GeneExonPrimerGencodeGeneCardsHGNC
HPRDLynxMalacardsMGIneXtProtOMIM
PubMedUniProtKBBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: COX8C_HUMAN
DESCRIPTION: RecName: Full=Cytochrome c oxidase subunit 8C, mitochondrial; AltName: Full=Cytochrome c oxidase polypeptide 8 isoform 3; AltName: Full=Cytochrome c oxidase polypeptide VIII isoform 3; Short=COX VIII-3; AltName: Full=Cytochrome c oxidase subunit 8-3; Flags: Precursor;
FUNCTION: This protein is one of the nuclear-coded polypeptide chains of cytochrome c oxidase, the terminal oxidase in mitochondrial electron transport.
SUBCELLULAR LOCATION: Mitochondrion inner membrane.
TISSUE SPECIFICITY: It is not yet known where COX8C is expressed.
SIMILARITY: Belongs to the cytochrome c oxidase VIII family.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: COX8C
Diseases sorted by gene-association score: tethered spinal cord syndrome (17)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 66.20 RPKM in Testis
Total median expression: 71.12 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -20.5087-0.236 Picture PostScript Text
3' UTR -46.90236-0.199 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR003205 - Cyt_c_oxidase_su8
IPR016070 - Cyt_c_oxidase_su8/PSI_RC_su9

Pfam Domains:
PF02285 - Cytochrome oxidase c subunit VIII

ModBase Predicted Comparative 3D Structure on Q7Z4L0
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGD    
Protein SequenceProtein Sequence    
AlignmentAlignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0004129 cytochrome-c oxidase activity

Biological Process:
GO:0006123 mitochondrial electron transport, cytochrome c to oxygen
GO:1902600 hydrogen ion transmembrane transport

Cellular Component:
GO:0005739 mitochondrion
GO:0005743 mitochondrial inner membrane
GO:0005751 mitochondrial respiratory chain complex IV
GO:0016020 membrane
GO:0016021 integral component of membrane


-  Descriptions from all associated GenBank mRNAs
  AY161004 - Homo sapiens cytochrome c oxidase subunit VIII isoform 3 mRNA, complete cds; nuclear gene for mitochondrial product.
BC101125 - Homo sapiens cytochrome c oxidase subunit 8C, mRNA (cDNA clone MGC:119774 IMAGE:40014030), complete cds.
BC101126 - Homo sapiens cytochrome c oxidase subunit 8C, mRNA (cDNA clone MGC:119775 IMAGE:40014031), complete cds.
KJ905085 - Synthetic construct Homo sapiens clone ccsbBroadEn_14479 COX8C gene, encodes complete protein.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa00190 - Oxidative phosphorylation
hsa01100 - Metabolic pathways
hsa04260 - Cardiac muscle contraction
hsa05010 - Alzheimer's disease
hsa05012 - Parkinson's disease
hsa05016 - Huntington's disease

-  Other Names for This Gene
  Alternate Gene Symbols: COX8C_HUMAN, ENST00000342144.1, ENST00000342144.2, NM_182971, Q495K7, Q7Z4L0, uc001ybt.1, uc001ybt.2, uc001ybt.3
UCSC ID: ENST00000342144.3
RefSeq Accession: NM_182971
Protein: Q7Z4L0 (aka COX8C_HUMAN)
CCDS: CCDS9910.1

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.