COQ8B coenzyme Q8B [Homo sapiens (human)] - Gene

Summary

Official Symbol: COQ8Bprovided by HGNC
Official Full Name: coenzyme Q8Bprovided by HGNC
Primary source: HGNC:HGNC:19041
See related: Ensembl:ENSG00000123815 MIM:615567; AllianceGenome:HGNC:19041
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: ADCK4; NPHS9
Summary: 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]
Expression: Ubiquitous expression in prostate (RPKM 8.5), testis (RPKM 8.4) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 19q13.2

Exon count:: 16

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	19	NC_000019.10 (40691530..40716886, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	19	NC_060943.1 (43512196..43537578, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	19	NC_000019.9 (41197435..41222791, complement)

Chromosome 19 - NC_000019.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Bi-allelic variants in COQ8B, a gene involved in the biosynthesis of coenzyme Q10, lead to non-syndromic retinitis pigmentosa.
Title: Bi-allelic variants in COQ8B, a gene involved in the biosynthesis of coenzyme Q10, lead to non-syndromic retinitis pigmentosa.
Whole-exome sequencing reveals a novel homozygous mutation in the COQ8B gene associated with nephrotic syndrome.
Title: Whole-exome sequencing reveals a novel homozygous mutation in the COQ8B gene associated with nephrotic syndrome.
The role of novel COQ8B mutations in glomerulopathy and related kidney defects.
Title: The role of novel COQ8B mutations in glomerulopathy and related kidney defects.
Transcription factor Kruppel-like factor 5 positively regulates the expression of AarF domain containing kinase 4.
Title: Transcription factor Kruppel-like factor 5 positively regulates the expression of AarF domain containing kinase 4.
Absence of Long Noncoding RNA H19 Promotes Childhood Nephrotic Syndrome through Inhibiting ADCK4 Signal.
Title: Absence of Long Noncoding RNA H19 Promotes Childhood Nephrotic Syndrome through Inhibiting ADCK4 Signal.
a novel ABC1 domain-localized pathogenic mutation responsible for ADCK4-glomerulopathy was identified, further supporting the importance of the C-terminal portion of ADCK4.
Title: A novel ADCK4 mutation in a Chinese family with ADCK4-Associated glomerulopathy.
a COQ8B polymorphism, present in 50% of the European population (NM_024876.3:c.521A > G, p.His174Arg), affects stability of the protein and could represent a risk factor for secondary Coenzyme Q deficiencies or for other complex traits.
Title: Mutations in COQ8B (ADCK4) found in patients with steroid-resistant nephrotic syndrome alter COQ8B function.
Study in Korean cohort revealed that ADCK4 mutations should be considered in older children presenting with steroid resistant focal segmental glomerulosclerosis. The association with medullary nephrocalcinosis may be an additional diagnostic indicator.
Title: Focal segmental glomerulosclerosis and medullary nephrocalcinosis in children with ADCK4 mutations.
Mutations in ADCK4 resulted in reduced CoQ10 levels and reduced mitochondrial respiratory enzyme activity in cells isolated from individuals with steroid-resistant nephrotic syndrome & transformed lymphoblasts.
Title: ADCK4 mutations promote steroid-resistant nephrotic syndrome through CoQ10 biosynthesis disruption.
Observational study of gene-disease association. (HuGE Navigator)
Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Nephrotic syndrome, type 9 MedGen: C3809965 OMIM: 615573 GeneReviews: Genetic Steroid-Resistant Nephrotic Syndrome Overview	not available

EBI GWAS Catalog

Description
Genome-wide association study identifies FCGR2A as a susceptibility locus for Kawasaki disease. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH103895 (e-PCR)
- UniSTS:98220

G34996 (e-PCR)
- UniSTS:15314

SHGC-153683 (e-PCR)
- UniSTS:177880

RH75304 (e-PCR)
- UniSTS:87281

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ATP binding	IEA Inferred from Electronic Annotation more info
enables ATP hydrolysis activity	ISS Inferred from Sequence or Structural Similarity more info
enables lipid binding	ISS Inferred from Sequence or Structural Similarity more info
NOT enables protein kinase activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in cerebellar Purkinje cell layer morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
NOT involved_in protein phosphorylation	IDA Inferred from Direct Assay more info	PubMed
involved_in ubiquinone biosynthetic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in ubiquinone biosynthetic process	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in cytosol	IEA Inferred from Electronic Annotation more info
located_in mitochondrial membrane	IEA Inferred from Electronic Annotation more info
located_in mitochondrion	HTP more info	PubMed
located_in mitochondrion	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: atypical kinase COQ8B, mitochondrial

Names: aarF domain containing kinase 4; aarF domain-containing protein kinase 4; coenzyme Q protein 8B

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_027800.1 RefSeqGene

Range

5000..30356

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001142555.3 → NP_001136027.1 atypical kinase COQ8B, mitochondrial isoform b

See identical proteins and their annotated locations for NP_001136027.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) differs in the 5' UTR and lacks an alternate in-frame exon, compared to variant 1. The resulting isoform (b) is shorter than isoform a.

Source sequence(s)

AC010412, BC027473, CA397752

Consensus CDS

CCDS46081.1

UniProtKB/TrEMBL

M0R0L2

Related

ENSP00000243583.5, ENST00000243583.10

Conserved Domains (2) summary

COG0661
Location:127 → 471

AarF; Predicted unusual protein kinase regulating ubiquinone biosynthesis, AarF/ABC1/UbiB family [Coenzyme transport and metabolism, Signal transduction mechanisms]

cd13970
Location:134 → 383

ABC1_ADCK3; Activator of bc1 complex (ABC1) kinases, also called aarF domain containing kinase 3
NM_024876.4 → NP_079152.3 atypical kinase COQ8B, mitochondrial isoform a

See identical proteins and their annotated locations for NP_079152.3

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (a).

Source sequence(s)

AC010412, AU121879, BC013114, BC013884

Consensus CDS

CCDS12562.1

UniProtKB/Swiss-Prot

Q8TAJ1, Q96D53, Q9HA52

UniProtKB/TrEMBL

M0R0L2

Related

ENSP00000315118.3, ENST00000324464.8

Conserved Domains (1) summary

cd13970
Location:175 → 424

ABC1_ADCK3; Activator of bc1 complex (ABC1) kinases, also called aarF domain containing kinase 3