COQ2
  • 30
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
COQ2 (HGNC:25223) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
coenzyme Q2, polyprenyltransferase
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
No previous names found
Alias symbols
CL640, FLJ26072
%HI
68.33(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0(Read more about gnomAD pLI score)
LOEUF
1.03(Read more about gnomAD LOEUF score)
Cytoband
4q21.23
Genomic Coordinates
GRCh37/hg19: chr4:84184977-84206287 NCBI Ensembl UCSC
GRCh38/hg38: chr4:83263824-83285134 NCBI Ensembl UCSC
MANE Select Transcript
NM_001358921.2 ENST00000647002.2 (Read more about MANE Select)
Function
Mediates the second step in the final reaction sequence of coenzyme Q (CoQ) biosynthesis (PubMed:15153069, PubMed:17374725, PubMed:16400613, PubMed:20526342). Catalyzes the prenylation of para- hydroxybenzoate (PHB) with an all-trans polyprenyl donor (such as all- trans-decaprenyl diphosphate) (PubMed:15153069, PubMed:17374725, PubMed:16400613, PubMed:20526342). The length of the polyprenyl side chain varies depending on the species, in humans, the side chain is comprised of 10 isoprenyls (decap... (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-26022
ClinGen Curation ID:
CCID:006916
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype (30)
Read full report...
Triplosensitivity:
No Evidence for Triplosensitivity (0)
Read full report...
Last Evaluated:
08/22/2016

Haploinsufficiency (HI) Score Details

HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype (Disclaimer)
HI Disease:
  • coenzyme Q10 deficiency, primary, 1 Monarch

Triplosensitivity (TS) Score Details

TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)

Genomic View

Select assembly: (NC_000004.11) (NC_000004.12)