Human Gene COA4 (ENST00000355693.5_7) from GENCODE V47lift37
  Description: cytochrome c oxidase assembly factor 4 homolog (from RefSeq NM_016565.3)
Gencode Transcript: ENST00000355693.5_7
Gencode Gene: ENSG00000181924.8_12
Transcript (Including UTRs)
   Position: hg19 chr11:73,583,712-73,587,891 Size: 4,180 Total Exon Count: 2 Strand: -
Coding Region
   Position: hg19 chr11:73,584,160-73,584,423 Size: 264 Coding Exon Count: 1 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr11:73,583,712-73,587,891)mRNA (may differ from genome)Protein (87 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedReactome
UniProtKBBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: COA4_HUMAN
DESCRIPTION: RecName: Full=Cytochrome c oxidase assembly factor 4 homolog, mitochondrial; AltName: Full=Coiled-coil-helix-coiled-coil-helix domain-containing protein 8; AltName: Full=E2-induced gene 2 protein;
FUNCTION: Putative COX assembly factor (By similarity).
SUBCELLULAR LOCATION: Mitochondrion (By similarity).
INDUCTION: Up-regulated by estrogen.
SIMILARITY: Belongs to the COA4 family.
SIMILARITY: Contains 1 CHCH domain.

-  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: COA4
Diseases sorted by gene-association score: leigh syndrome (1)

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

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 26.78 RPKM in Adrenal Gland
Total median expression: 573.36 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 -23.20106-0.219 Picture PostScript Text
3' UTR -112.30448-0.251 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
IPR010625 - CHCH

SCOP Domains:
47072 - Cysteine alpha-hairpin motif

ModBase Predicted Comparative 3D Structure on Q9NYJ1
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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
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Biological Process:
GO:0033617 mitochondrial respiratory chain complex IV assembly

Cellular Component:
GO:0005739 mitochondrion
GO:0005758 mitochondrial intermembrane space


-  Descriptions from all associated GenBank mRNAs
  LF207792 - JP 2014500723-A/15295: Polycomb-Associated Non-Coding RNAs.
AK000434 - Homo sapiens cDNA FLJ20427 fis, clone KAT03137.
AL359618 - Homo sapiens mRNA; cDNA DKFZp762H1711 (from clone DKFZp762H1711).
AF242180 - Homo sapiens E2IG2 mRNA, complete cds.
BC106036 - Homo sapiens coiled-coil-helix-coiled-coil-helix domain containing 8, mRNA (cDNA clone MGC:117206 IMAGE:4445548), complete cds.
AK097302 - Homo sapiens cDNA FLJ39983 fis, clone SPLEN2038834, highly similar to Homo sapiens E2IG2 mRNA.
JD162051 - Sequence 143075 from Patent EP1572962.
JD514638 - Sequence 495662 from Patent EP1572962.
JD040106 - Sequence 21130 from Patent EP1572962.
LF369217 - JP 2014500723-A/176720: Polycomb-Associated Non-Coding RNAs.
LF369216 - JP 2014500723-A/176719: Polycomb-Associated Non-Coding RNAs.
AM392802 - Synthetic construct Homo sapiens clone IMAGE:100002485 for hypothetical protein (CHCHD8 gene).
AK314104 - Homo sapiens cDNA, FLJ94792, Homo sapiens E2IG2 protein (E2IG2), mRNA.
AB528103 - Synthetic construct DNA, clone: pF1KE0192, Homo sapiens CHCHD8 gene for coiled-coil-helix-coiled-coil-helix domain containing protein 8, without stop codon, in Flexi system.
LF369215 - JP 2014500723-A/176718: Polycomb-Associated Non-Coding RNAs.
MA604794 - JP 2018138019-A/176720: Polycomb-Associated Non-Coding RNAs.
MA604793 - JP 2018138019-A/176719: Polycomb-Associated Non-Coding RNAs.
MA604792 - JP 2018138019-A/176718: Polycomb-Associated Non-Coding RNAs.
MA443369 - JP 2018138019-A/15295: Polycomb-Associated Non-Coding RNAs.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q9NYJ1 (Reactome details) participates in the following event(s):

R-HSA-1307802 MIA40:ERV1 (CHCHD4:GFER) oxidizes cysteine residues to cystine disulfide bonds
R-HSA-1268020 Mitochondrial protein import
R-HSA-392499 Metabolism of proteins

-  Other Names for This Gene
  Alternate Gene Symbols: B2RAA0, CHCHD8, COA4_HUMAN, E2IG2, ENST00000355693.1, ENST00000355693.2, ENST00000355693.3, ENST00000355693.4, NM_016565, Q69YU4, Q9NYJ1, uc317zfb.1, uc317zfb.2
UCSC ID: ENST00000355693.5_7
RefSeq Accession: NM_016565.3
Protein: Q9NYJ1 (aka COA4_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

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