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)
Triplosensitivity:
No Evidence for Triplosensitivity
(0)
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)