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Aliases for COQ8B Gene

Aliases for COQ8B Gene

  • Coenzyme Q8B 2 3 5
  • AarF Domain-Containing Protein Kinase 4 3 4
  • AarF Domain Containing Kinase 4 2 3
  • Coenzyme Q Protein 8B 3 4
  • ADCK4 3 4
  • Atypical Kinase COQ8B, Mitochondrial 3
  • EC 2.7.11.25 61
  • EC 2.7.11.1 61
  • EC 2.7.-.- 4
  • EC 2.7.11 61
  • NPHS9 3

External Ids for COQ8B Gene

Previous HGNC Symbols for COQ8B Gene

  • ADCK4

Summaries for COQ8B Gene

Entrez Gene Summary for COQ8B Gene

  • 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]

GeneCards Summary for COQ8B Gene

COQ8B (Coenzyme Q8B) is a Protein Coding gene. Diseases associated with COQ8B include Nephrotic Syndrome, Type 9 and Familial Idiopathic Steroid-Resistant Nephrotic Syndrome With Focal Segmental Hyalinosis. An important paralog of this gene is COQ8A.

UniProtKB/Swiss-Prot for COQ8B Gene

  • Atypical kinase involved in the biosynthesis of coenzyme Q, also named ubiquinone, an essential lipid-soluble electron transporter for aerobic cellular respiration (PubMed:24270420). Its substrate specificity is unclear: does not show any protein kinase activity. Probably acts as a small molecule kinase, possibly a lipid kinase that phosphorylates a prenyl lipid in the ubiquinone biosynthesis pathway. Required for podocyte migration (PubMed:24270420).

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for COQ8B Gene

Genomics for COQ8B Gene

Regulatory Elements for COQ8B Gene

Enhancers for COQ8B Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH19F040747 0.9 FANTOM5 ENCODE 49.7 -34.6 -34555 9.8 MLX CREB3L1 ZFP64 YBX1 FEZF1 DMAP1 YY1 ZNF416 ZNF143 ZNF263 SNRPA FBL ENSG00000269843 COQ8B ITPKC CCDC97 SERTAD3 ENSG00000269069 CYP2G2P ENSG00000271299
GH19F040796 1 FANTOM5 Ensembl ENCODE 22.2 -84.1 -84131 11.8 MLX CREB3L1 ZFP64 FEZF1 DMAP1 YBX1 YY1 ZNF416 ZNF143 ZNF548 SNRPA ENSG00000269843 ENSG00000205041 ENSG00000269069 FBL ITPKC CCDC97 COQ8B NUMBL ENSG00000268366
GH19F040744 1.3 Ensembl ENCODE 21.2 -27.0 -27046 2.3 PKNOX1 INSM2 RAD21 ZEB1 GLIS2 ZNF138 THAP11 ZNF263 HCFC1 ZBTB11 ITPKC COQ8B C19orf54 RNU6-195P ENSG00000269843 SNRPA PSMC4 MIA GC19P040724
GH19F040347 0.5 ENCODE 21.2 +369.6 369623 2.2 HDGF PKNOX1 CREB3L1 MLX ZFP64 ARID4B SIN3A FEZF1 DMAP1 ZNF2 SNRPA ENSG00000269843 FBL ENSG00000205041 ENSG00000269069 CCDC97 RN7SL566P COQ8B ITPKC RPS16
GH19F041348 0.2 ENCODE 21.2 -633.4 -633407 6.9 CREB3L1 ZFP64 FEZF1 DMAP1 YBX1 YY1 ZNF143 ZNF263 SP3 NFYC ZNF526 SNRPA ZNF574 CCDC97 ENSG00000269843 ITPKC SERTAD3 COQ8B TMEM91 CIC
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around COQ8B on UCSC Golden Path with GeneCards custom track

Promoters for COQ8B Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000346640 907 5801 CREB3L1 ZFP64 FEZF1 DMAP1 YY1 ZNF143 ZNF416 ZNF548 SP3 NFYC

Genomic Location for COQ8B Gene

Chromosome:
19
Start:
40,691,529 bp from pter
End:
40,718,207 bp from pter
Size:
26,679 bases
Orientation:
Minus strand

Genomic View for COQ8B Gene

Genes around COQ8B on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
COQ8B Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for COQ8B Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for COQ8B Gene

Proteins for COQ8B Gene

  • Protein details for COQ8B Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96D53-COQ8B_HUMAN
    Recommended name:
    Atypical kinase COQ8B, mitochondrial
    Protein Accession:
    Q96D53
    Secondary Accessions:
    • Q8TAJ1
    • Q9HA52

    Protein attributes for COQ8B Gene

    Size:
    544 amino acids
    Molecular mass:
    60069 Da
    Quaternary structure:
    • Homodimer; homodimerizes via its transmembrane region (PubMed:25216398). Interacts with COQ6 and COQ7 (PubMed:24270420). Interacts with the multi-subunit COQ enzyme complex, composed of at least COQ3, COQ4, COQ5, COQ6, COQ7 and COQ9 (PubMed:27499296).

    Alternative splice isoforms for COQ8B Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for COQ8B Gene

Selected DME Specific Peptides for COQ8B Gene

Q96D53:
  • GTEVAVK
  • PPPEETY
  • AAASIGQVH
  • KAAADGDR

Post-translational modifications for COQ8B Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Domains & Families for COQ8B Gene

Protein Domains for COQ8B Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for COQ8B Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q96D53

UniProtKB/Swiss-Prot:

COQ8B_HUMAN :
  • Adopts an atypical protein kinase-like fold: while it adopts a core fold similar to that of well-characterized protein kinase-like domains. The KxGQ motif completely occludes the typical substrate binding pocket. Nucleotide-binding opens the substrate binding pocket and flips the active site from inside the hydrophobic core into a catalytically competent, solvent-exposed posture.
  • Belongs to the protein kinase superfamily. ADCK protein kinase family.
Domain:
  • Adopts an atypical protein kinase-like fold: while it adopts a core fold similar to that of well-characterized protein kinase-like domains. The KxGQ motif completely occludes the typical substrate binding pocket. Nucleotide-binding opens the substrate binding pocket and flips the active site from inside the hydrophobic core into a catalytically competent, solvent-exposed posture.
  • Contains 1 protein kinase domain.
Family:
  • Belongs to the protein kinase superfamily. ADCK protein kinase family.
genes like me logo Genes that share domains with COQ8B: view

No data available for Gene Families for COQ8B Gene

Function for COQ8B Gene

Molecular function for COQ8B Gene

UniProtKB/Swiss-Prot EnzymeRegulation:
Autoinhibited by the N-terminal domain, containing the KxGQ motif, that completely occludes the typical substrate binding pocket. Nucleotide-binding relieves inhibition.
UniProtKB/Swiss-Prot Function:
Atypical kinase involved in the biosynthesis of coenzyme Q, also named ubiquinone, an essential lipid-soluble electron transporter for aerobic cellular respiration (PubMed:24270420). Its substrate specificity is unclear: does not show any protein kinase activity. Probably acts as a small molecule kinase, possibly a lipid kinase that phosphorylates a prenyl lipid in the ubiquinone biosynthesis pathway. Required for podocyte migration (PubMed:24270420).

Enzyme Numbers (IUBMB) for COQ8B Gene

Gene Ontology (GO) - Molecular Function for COQ8B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004672 NOT protein kinase activity IDA 27499294
GO:0005524 ATP binding IEA --
GO:0016301 kinase activity IEA --
GO:0016740 transferase activity IEA --
genes like me logo Genes that share ontologies with COQ8B: view
genes like me logo Genes that share phenotypes with COQ8B: view

Human Phenotype Ontology for COQ8B Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

miRNA for COQ8B Gene

miRTarBase miRNAs that target COQ8B

Inhibitory RNA Products

Flow Cytometry Products

No data available for Animal Models , Transcription Factor Targets and HOMER Transcription for COQ8B Gene

Localization for COQ8B Gene

Subcellular locations from UniProtKB/Swiss-Prot for COQ8B Gene

Mitochondrion membrane; Single-pass membrane protein. Cytoplasm, cytosol. Cell membrane.

Gene Ontology (GO) - Cellular Components for COQ8B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005739 mitochondrion IEA --
GO:0005829 cytosol IEA --
GO:0005886 plasma membrane IEA --
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with COQ8B: view

No data available for Subcellular locations from COMPARTMENTS for COQ8B Gene

Pathways & Interactions for COQ8B Gene

SuperPathways for COQ8B Gene

No Data Available

Interacting Proteins for COQ8B Gene

Gene Ontology (GO) - Biological Process for COQ8B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006468 NOT protein phosphorylation IDA 27499294
GO:0006744 ubiquinone biosynthetic process IMP 27499294
GO:0016310 phosphorylation IEA --
GO:0021692 cerebellar Purkinje cell layer morphogenesis IMP 27499294
genes like me logo Genes that share ontologies with COQ8B: view

No data available for Pathways by source and SIGNOR curated interactions for COQ8B Gene

Transcripts for COQ8B Gene

Unigene Clusters for COQ8B Gene

AarF domain containing kinase 4:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for COQ8B Gene

No ASD Table

Relevant External Links for COQ8B Gene

GeneLoc Exon Structure for
COQ8B
ECgene alternative splicing isoforms for
COQ8B

Expression for COQ8B Gene

NURSA nuclear receptor signaling pathways regulating expression of COQ8B Gene:

COQ8B

SOURCE GeneReport for Unigene cluster for COQ8B Gene:

Hs.130712

mRNA Expression by UniProt/SwissProt for COQ8B Gene:

Q96D53-COQ8B_HUMAN
Tissue specificity: Widely expressed, including renal podocytes.

Primer Products

No data available for mRNA expression in normal human tissues , mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression and Protein tissue co-expression partners for COQ8B Gene

Orthologs for COQ8B Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for COQ8B Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ADCK4 34 35
  • 99.68 (n)
dog
(Canis familiaris)
Mammalia ADCK4 34 35
  • 90.63 (n)
cow
(Bos Taurus)
Mammalia ADCK4 34 35
  • 89.63 (n)
mouse
(Mus musculus)
Mammalia Adck4 34 35
  • 85.24 (n)
Coq8b 16
rat
(Rattus norvegicus)
Mammalia Adck4 34
  • 84.52 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia ADCK4 35
  • 76 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ADCK4 35
  • 75 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ADCK4 35
  • 69 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia adck4 34
  • 63.8 (n)
zebrafish
(Danio rerio)
Actinopterygii adck4 35
  • 51 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002906 34
  • 57.9 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG32649 34 35
  • 57.42 (n)
worm
(Caenorhabditis elegans)
Secernentea coq-8 35
  • 30 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes COQ8 35
  • 39 (a)
OneToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons ABC1 34
  • 50.33 (n)
rice
(Oryza sativa)
Liliopsida Os01g0318700 34
  • 52.81 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 54 (a)
OneToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.9270 34
Species where no ortholog for COQ8B was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for COQ8B Gene

ENSEMBL:
Gene Tree for COQ8B (if available)
TreeFam:
Gene Tree for COQ8B (if available)

Paralogs for COQ8B Gene

Paralogs for COQ8B Gene

genes like me logo Genes that share paralogs with COQ8B: view

Variants for COQ8B Gene

Sequence variations from dbSNP and Humsavar for COQ8B Gene

SNP ID Clin Chr 19 pos Sequence Context AA Info Type
rs369573693 Nephrotic syndrome 9 (NPHS9) [MIM:615573], Pathogenic 40,700,387(+) CACCC(A/G)TGTCG reference, missense
rs398122978 Nephrotic syndrome 9 (NPHS9) [MIM:615573], Pathogenic 40,705,140(-) TTGAG(C/T)GGGTC reference, missense
rs398122979 Nephrotic syndrome 9 (NPHS9) [MIM:615573], Pathogenic 40,702,636(-) GTGTG(A/G)CTACC reference, missense
rs398122981 Nephrotic syndrome 9 (NPHS9) [MIM:615573], Pathogenic 40,700,318(-) ACCTG(C/T)GGAAC reference, missense
VAR_070556 Nephrotic syndrome 9 (NPHS9) [MIM:615573]

Structural Variations from Database of Genomic Variants (DGV) for COQ8B Gene

Variant ID Type Subtype PubMed ID
esv2718567 CNV deletion 23290073
esv3302648 CNV tandem duplication 20981092
esv3449169 CNV insertion 20981092
nsv1058707 CNV gain 25217958
nsv1067017 CNV gain 25217958
nsv1160619 CNV deletion 26073780

Variation tolerance for COQ8B Gene

Residual Variation Intolerance Score: 72.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 11.32; 92.62% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for COQ8B Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
COQ8B

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for COQ8B Gene

Disorders for COQ8B Gene

MalaCards: The human disease database

(2) MalaCards diseases for COQ8B Gene - From: OMIM, ClinVar, GeneTests, Orphanet, and Swiss-Prot

Disorder Aliases PubMed IDs
nephrotic syndrome, type 9
  • nephrotic syndrome type 9
familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis
  • familial idiopathic steroid-resistant nephrotic syndrome with focal segmental glomerulosclerosis
- elite association - COSMIC cancer census association via MalaCards
Search COQ8B in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

COQ8B_HUMAN
  • Nephrotic syndrome 9 (NPHS9) [MIM:615573]: A form of nephrotic syndrome, a renal disease clinically characterized by progressive renal failure, severe proteinuria, hypoalbuminemia, hyperlipidemia and edema. Kidney biopsies show focal segmental glomerulosclerosis. {ECO:0000269 PubMed:24270420, ECO:0000269 PubMed:25967120}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for COQ8B

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
COQ8B
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
COQ8B
genes like me logo Genes that share disorders with COQ8B: view

No data available for Genatlas for COQ8B Gene

Publications for COQ8B Gene

  1. ADCK4 mutations promote steroid-resistant nephrotic syndrome through CoQ10 biosynthesis disruption. (PMID: 24270420) Ashraf S. … Hildebrandt F. (J. Clin. Invest. 2013) 2 3 4 64
  2. Mitochondrial Protein Interaction Mapping Identifies Regulators of Respiratory Chain Function. (PMID: 27499296) Floyd B.J. … Pagliarini D.J. (Mol. Cell 2016) 3 4 64
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64
  5. Cerebellar Ataxia and Coenzyme Q Deficiency through Loss of Unorthodox Kinase Activity. (PMID: 27499294) Stefely J.A. … Pagliarini D.J. (Mol. Cell 2016) 3 64

Products for COQ8B Gene

Sources for COQ8B Gene

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