• Gene id: 79934

Gene Summary

• Gene Symbol: COQ8B   Gene   UCSC   Ensembl
• Aliases: ADCK4, NPHS9
• Gene name: coenzyme Q8B
• Alternate names: atypical kinase COQ8B, mitochondrial, aarF domain containing kinase 4, aarF domain-containing protein kinase 4, coenzyme Q protein 8B,
• Gene location: 19q13.2 (40716885: 40691529)     Exons: 16     NC_000019.10
• Gene summary(Entrez): 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, howe
• OMIM: 615567

Protein Summary

• Protein general information: Q96D53  
  • Name: Atypical kinase COQ8B, mitochondrial (EC 2.7. . ) (AarF domain containing protein kinase 4) (Coenzyme Q protein 8B)
  • Length: 544  
  • Mass: 60069
  • Tissue specificity: Widely expressed, including renal podocytes. {ECO
• Sequence:

  MWLKVGGLLRGTGGQLGQTVGWPCGALGPGPHRWGPCGGSWAQKFYQDGPGRGLGEEDIRRAREARPRKTPRPQL
  SDRSRERKVPASRISRLANFGGLAVGLGLGVLAEMAKKSMPGGRLQSEGGSGLDSSPFLSEANAERIVQTLCTVR
  GAALKVGQMLSIQDNSFISPQLQHIFERVRQSADFMPRWQMLRVLEEELGRDWQAKVASLEEVPFAAASIGQVHQ
  GLLRDGTEVAVKIQYPGIAQSIQSDVQNLLAVLKMSAALPAGLFAEQSLQALQQELAWECDYRREAACAQNFRQL
  LANDPFFRVPAVVKELCTTRVLGMELAGGVPLDQCQGLSQDLRNQICFQLLTLCLRELFEFRFMQTDPNWANFLY
  DASSHQVTLLDFGASREFGTEFTDHYIEVVKAAADGDRDCVLQKSRDLKFLTGFETKAFSDAHVEAVMILGEPFA
  TQGPYDFGSGETARRIQDLIPVLLRHRLCPPPEETYALHRKLAGAFLACAHLRAHIACRDLFQDTYHRYWASRQP
  DAATAGSLPTKGDSWVDPS

• Structural information:
  • Protein Domains: (191..42-)
    (/note="Protein-kinase")
  • Interpro: IPR034646  IPR034638  IPR011009  IPR004147  
  • CDD: cd13970
  • STRING: ENSP00000315118
• Other Databases: GeneCards:  COQ8B  Malacards:  COQ8B

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0016301	kinase activity	IBA	molecular function
GO:0031314	extrinsic component of mitochondrial inner membrane	IBA	cellular component
GO:0006744	ubiquinone biosynthetic process	IBA	biological process
GO:0005739	mitochondrion	IBA	cellular component
GO:0004672	protein kinase activity	IDA	NOT|molecular function
GO:0006468	protein phosphorylation	IDA	NOT|biological process
GO:0021692	cerebellar Purkinje cell layer morphogenesis	IMP	biological process
GO:0006744	ubiquinone biosynthetic process	IMP	biological process
GO:0005739	mitochondrion	IEA	cellular component
GO:0006744	ubiquinone biosynthetic process	IEA	biological process
GO:0016301	kinase activity	IEA	molecular function
GO:0016740	transferase activity	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0005524	ATP binding	IEA	molecular function
GO:0005739	mitochondrion	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0016310	phosphorylation	IEA	biological process
GO:0000166	nucleotide binding	IEA	molecular function
GO:0016021	integral component of membrane	IEA	cellular component
GO:0031966	mitochondrial membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005829	cytosol	IEA	cellular component
GO:0005739	mitochondrion	IDA	cellular component
GO:0006468	protein phosphorylation	IEA	biological process

Diseases

Associated diseases	References
Nephrotic syndrome	KEGG:H01657
Nephrotic syndrome	KEGG:H01657
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq