InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: COQ2

Summary

InnateDB Protein

IDBP-27634.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

COQ2

Protein Name

coenzyme Q2 homolog, prenyltransferase (yeast)

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000310873

InnateDB Gene

IDBG-27632 (COQ2)

Protein Structure

UniProt Annotation

Function

Catalyzes the prenylation of para-hydroxybenzoate (PHB) with an all-trans polyprenyl group. Mediates the second step in the final reaction sequence of coenzyme Q (CoQ) biosynthesis, which is the condensation of the polyisoprenoid side chain with PHB. {ECO:0000269PubMed:15153069}.

Subcellular Localization

Mitochondrion membrane {ECO:0000305}; Multi- pass membrane protein {ECO:0000305}.

Disease Associations

Coenzyme Q10 deficiency, primary, 1 (COQ10D1) [MIM:607426]: An autosomal recessive disorder with variable manifestations consistent with 5 major phenotypes. The phenotypes include an encephalomyopathic form with seizures and ataxia; a multisystem infantile form with encephalopathy, cardiomyopathy and renal failure; a predominantly cerebellar form with ataxia and cerebellar atrophy; Leigh syndrome with growth retardation; and an isolated myopathic form. {ECO:0000269PubMed:16400613, ECO:0000269PubMed:17855635}. Note=The disease is caused by mutations affecting the gene represented in this entry.Multiple system atrophy 1 (MSA1) [MIM:146500]: A progressive neurodegenerative disorder clinically characterized by parkinsonism, cerebellar ataxia, and autonomic, urogenital, and pyramidal dysfunction in various combinations. Pathologically, it is characterized by degeneration of striatonigral and olivopontocerebellar structures, and glial cytoplasmic inclusions that consist of abnormally phosphorylated alpha-synuclein or tau. {ECO:0000269PubMed:23758206}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.

Tissue Specificity

Widely expressed. Present in all of the tissues tested. Expressed at higher level in skeletal muscle, adrenal glands and the heart. {ECO:0000269PubMed:15153069}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 1 experimentally validated interaction(s) in this database.

Experimentally validated
Total	1 [view]
Protein-Protein	1 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0002083	4-hydroxybenzoate decaprenyltransferase activity
GO:0004659	prenyltransferase activity
GO:0047293	4-hydroxybenzoate nonaprenyltransferase activity

Biological Process

GO:0006071	glycerol metabolic process
GO:0006744	ubiquinone biosynthetic process
GO:0008219	cell death
GO:0008299	isoprenoid biosynthetic process
GO:0009058	biosynthetic process
GO:0044281	small molecule metabolic process