Human Gene COQ8B (uc002oop.1)
  Description: Homo sapiens aarF domain containing kinase 4 (COQ8B), transcript variant 2, mRNA.
RefSeq Summary (NM_001142555): This gene encodes a protein with two copies of a domain found in protein kinases. The encoded protein has a complete protein kinase catalytic domain, and a truncated domain that contains only the active and binding sites of the protein kinase domain, however, it is not known whether the protein has any kinase activity. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011].
Transcript (Including UTRs)
   Position: hg19 chr19:41,197,434-41,207,364 Size: 9,931 Total Exon Count: 5 Strand: -
Coding Region
   Position: hg19 chr19:41,197,940-41,206,280 Size: 8,341 Coding Exon Count: 5 

Page IndexSequence and LinksPrimersMalaCardsGene AllelesRNA-Seq Expression
Microarray ExpressionRNA StructureOther SpeciesmRNA DescriptionsOther NamesGeneReviews
Model InformationMethods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr19:41,197,434-41,207,364)mRNA (may differ from genome)Protein (221 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneTable SchemaBioGPS
EnsemblEntrez GeneExonPrimerGeneCardsGeneNetworkH-INV
LynxMalacardsMGIOMIMPubMedTreefam
BioGrid CRISPR DB

-  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: COQ8B
Diseases sorted by gene-association score: nephrotic syndrome, type 9* (1300), glomerulosclerosis, focal segmental, 1* (90), nephrotic syndrome (17)
* = Manually curated disease association

+  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: 35.96 RPKM in Pituitary
Total median expression: 555.53 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 -388.981084-0.359 Picture PostScript Text
3' UTR -218.70506-0.432 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.

-  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 orthologGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGD    
 Protein Sequence    
 Alignment    

-  Descriptions from all associated GenBank mRNAs
  BC013114 - Homo sapiens aarF domain containing kinase 4, mRNA (cDNA clone MGC:16884 IMAGE:4342891), complete cds.
AF052122 - Homo sapiens clone 23929 mRNA sequence.
AK057199 - Homo sapiens cDNA FLJ32637 fis, clone SYNOV2000291, weakly similar to Arabinogalactan-like protein.
BC013884 - Homo sapiens aarF domain containing kinase 4, mRNA (cDNA clone IMAGE:3678971), partial cds.
BC027473 - Homo sapiens aarF domain containing kinase 4, mRNA (cDNA clone MGC:36739 IMAGE:4997823), complete cds.
JD519145 - Sequence 500169 from Patent EP1572962.
JD150313 - Sequence 131337 from Patent EP1572962.
JD419446 - Sequence 400470 from Patent EP1572962.
JD131503 - Sequence 112527 from Patent EP1572962.
JD475379 - Sequence 456403 from Patent EP1572962.
JD255463 - Sequence 236487 from Patent EP1572962.
JD215898 - Sequence 196922 from Patent EP1572962.
JD040648 - Sequence 21672 from Patent EP1572962.
JD385134 - Sequence 366158 from Patent EP1572962.
JD157595 - Sequence 138619 from Patent EP1572962.
JD142830 - Sequence 123854 from Patent EP1572962.
JD396395 - Sequence 377419 from Patent EP1572962.
JD079705 - Sequence 60729 from Patent EP1572962.
JD123554 - Sequence 104578 from Patent EP1572962.
JD105086 - Sequence 86110 from Patent EP1572962.
KJ899597 - Synthetic construct Homo sapiens clone ccsbBroadEn_08991 ADCK4 gene, encodes complete protein.
KJ899598 - Synthetic construct Homo sapiens clone ccsbBroadEn_08992 ADCK4 gene, encodes complete protein.
KJ905542 - Synthetic construct Homo sapiens clone ccsbBroadEn_15158 ADCK4 gene, encodes complete protein.
DQ891691 - Synthetic construct clone IMAGE:100004321; FLH180066.01X; RZPDo839F07132D aarF domain containing kinase 4 (ADCK4) gene, encodes complete protein.
DQ894874 - Synthetic construct Homo sapiens clone IMAGE:100009334; FLH180062.01L; RZPDo839F07131D aarF domain containing kinase 4 (ADCK4) gene, encodes complete protein.
CU680508 - Synthetic construct Homo sapiens gateway clone IMAGE:100017398 5' read ADCK4 mRNA.
JD346590 - Sequence 327614 from Patent EP1572962.
JD028019 - Sequence 9043 from Patent EP1572962.
JD535476 - Sequence 516500 from Patent EP1572962.
JD535475 - Sequence 516499 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: ADCK4, AK057199, NM_001142555, NP_001136027
UCSC ID: uc002oop.1
RefSeq Accession: NM_001142555

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene COQ8B:
coq10-def (Primary Coenzyme Q10 Deficiency Overview)

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: AK057199.1
exon count: 5CDS single in 3' UTR: no RNA size: 2255
ORF size: 666CDS single in intron: no Alignment % ID: 99.82
txCdsPredict score: 1080.00frame shift in genome: no % Coverage: 100.00
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 1008# strange splices: 0
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.