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 ha... See more...

Aliases for COQ8B Gene

Aliases for COQ8B Gene

  • Coenzyme Q8B 2 3 5
  • AarF Domain-Containing Protein Kinase 4 3 4
  • Atypical Kinase COQ8B, Mitochondrial 3 4
  • AarF Domain Containing Kinase 4 2 3
  • Coenzyme Q Protein 8B 3 4
  • ADCK4 3 4
  • EC 2.7.11.25 54
  • EC 2.7.11.1 54
  • EC 2.7.-.- 4
  • EC 2.7.11 54
  • NPHS9 3

External Ids for COQ8B Gene

Previous HGNC Symbols for COQ8B Gene

  • ADCK4

Previous GeneCards Identifiers for COQ8B Gene

  • GC19M040693
  • GC19M040896

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 Summary 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).

Additional gene information for COQ8B Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for COQ8B Gene

Genomics for COQ8B Gene

GeneHancer (GH) Regulatory Elements for COQ8B Gene

Promoters and enhancers for COQ8B Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around COQ8B on UCSC Golden Path with GeneCards custom track

Genomic Locations for COQ8B Gene

Genomic Locations for COQ8B Gene
chr19:40,691,529-40,718,207
(GRCh38/hg38)
Size:
26,679 bases
Orientation:
Minus strand
chr19:41,197,434-41,224,112
(GRCh37/hg19)
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

  • Ubiquitination at Lys424
  • Modification sites at PhosphoSitePlus

Domains & Families for COQ8B Gene

Gene Families for COQ8B Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted intracellular proteins

Protein Domains for COQ8B Gene

Suggested Antigen Peptide Sequences for COQ8B Gene

GenScript: Design optimal peptide antigens:
  • Uncharacterized aarF domain-containing protein kinase 4 (ADCK4_HUMAN)

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.
Family:
  • Belongs to the protein kinase superfamily. ADCK protein kinase family.
genes like me logo Genes that share domains with COQ8B: view

Function for COQ8B Gene

Molecular function for COQ8B Gene

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).
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.

Enzyme Numbers (IUBMB) for COQ8B Gene

Phenotypes From GWAS Catalog 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 IBA 21873635
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 Models for COQ8B Gene

MGI Knock Outs for COQ8B:
  • Coq8b Coq8b<tm1b(EUCOMM)Hmgu>

Animal Model Products

CRISPR Products

miRNA for COQ8B Gene

miRTarBase miRNAs that target COQ8B

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for COQ8B

Clone Products

No data available for 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.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for COQ8B gene
Compartment Confidence
mitochondrion 5
plasma membrane 4
cytosol 4
nucleus 3
extracellular 0

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for COQ8B Gene

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

Pathways & Interactions for COQ8B Gene

PathCards logo

SuperPathways for COQ8B Gene

No Data Available

Gene Ontology (GO) - Biological Process for COQ8B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006468 NOT protein phosphorylation IDA,IEA 27499294
GO:0006744 ubiquinone biosynthetic process IEA,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

Drugs & Compounds for COQ8B Gene

(1) Drugs for COQ8B Gene - From: DrugBank

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
fostamatinib Approved, Investigational Pharma Target, inhibitor Kinase Inhibitors 0
genes like me logo Genes that share compounds with COQ8B: view

Transcripts for COQ8B Gene

mRNA/cDNA for COQ8B Gene

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for COQ8B

Clone 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

mRNA Expression by UniProt/SwissProt for COQ8B Gene:

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

Phenotype-based relationships between genes and organs from Gene ORGANizer for COQ8B Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • respiratory
  • urinary
Regions:
Head and neck:
  • ear
Thorax:
  • heart
  • lung
Abdomen:
  • kidney
General:
  • blood
  • blood vessel
  • coagulation system
  • red blood cell
  • skin

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 , Protein tissue co-expression partners and Evidence on tissue expression from TISSUES 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 33 32
  • 99.68 (n)
OneToOne
dog
(Canis familiaris)
Mammalia ADCK4 33 32
  • 90.63 (n)
OneToOne
cow
(Bos Taurus)
Mammalia ADCK4 33 32
  • 89.63 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Adck4 33 32
  • 85.24 (n)
OneToOne
Coq8b 17
rat
(Rattus norvegicus)
Mammalia Adck4 32
  • 84.52 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia ADCK4 33
  • 76 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ADCK4 33
  • 75 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ADCK4 33
  • 69 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia adck4 32
  • 63.8 (n)
zebrafish
(Danio rerio)
Actinopterygii adck4 33
  • 51 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002906 32
  • 57.9 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG32649 33 32
  • 57.42 (n)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea coq-8 33
  • 30 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes COQ8 33
  • 39 (a)
OneToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons ABC1 32
  • 50.33 (n)
rice
(Oryza sativa)
Liliopsida Os01g0318700 32
  • 52.81 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 33
  • 54 (a)
OneToMany
Cin.9270 32
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.9270 32
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)
Aminode:
Evolutionary constrained regions (ECRs) for COQ8B: view image

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 Variation AA Info Type
rs1057519345 pathogenic, Nephrotic syndrome, type 9 40,714,532(-) C/T coding_sequence_variant, stop_gained
rs1057519346 pathogenic, Nephrotic syndrome, type 9 40,700,389(-) GTCGT/GTCGTCGT coding_sequence_variant, inframe_insertion
rs1057519347 pathogenic, Nephrotic syndrome, type 9, Nephrotic syndrome 9 (NPHS9) [MIM:615573] 40,692,240(-) C/T coding_sequence_variant, missense_variant
rs11538384 benign, likely-benign, not specified, not provided, - 40,714,124(-) G/A coding_sequence_variant, missense_variant
rs11538385 benign, not specified, not provided 40,703,572(-) C/T coding_sequence_variant, synonymous_variant

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)

Additional Variant Information for COQ8B Gene

Human Gene Mutation Database (HGMD)
COQ8B
SNPedia medical, phenotypic, and genealogical associations of SNPs for
COQ8B

SNP Genotyping and Copy Number Assay Products

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

Disorders for COQ8B Gene

MalaCards: The human disease database

(8) MalaCards diseases for COQ8B Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
nephrotic syndrome, type 9
  • nphs9
familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis
  • familial idiopathic steroid-resistant nephrotic syndrome with focal segmental glomerulosclerosis
nephrotic syndrome
  • finnish congenital nephrotic syndrome
coenzyme q10 deficiency, primary, 6
  • coq10d6
kawasaki disease
  • kd
- 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.

Additional Disease Information for 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 (The Journal of clinical investigation 2013) 2 3 4 56
  2. Mitochondrial Protein Interaction Mapping Identifies Regulators of Respiratory Chain Function. (PMID: 27499296) Floyd BJ … Pagliarini DJ (Molecular cell 2016) 3 4 56
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 56
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 56
  5. E3 ubiquitin ligase RNF123 targets lamin B1 and lamin-binding proteins. (PMID: 29676528) Khanna R … Parnaik VK (The FEBS journal 2018) 3 56

Products for COQ8B Gene

Sources for COQ8B Gene