Gene Gene information from NCBI Gene database.
Entrez ID 57107
Gene name Decaprenyl diphosphate synthase subunit 2
Gene symbol PDSS2
Synonyms (NCBI Gene)
C6orf210COQ10D3COQ1BDLP1bA59I9.3hDLP1
Chromosome 6
Chromosome location 6q21
Summary The protein encoded by this gene is an enzyme that synthesizes the prenyl side-chain of coenzyme Q, or ubiquinone, one of the key elements in the respiratory chain. The gene product catalyzes the formation of all trans-polyprenyl pyrophosphates from isope
SNPs SNP information provided by dbSNP.
7
SNP ID Visualize variation Clinical significance Consequence
rs35555197 C>T Uncertain-significance, conflicting-interpretations-of-pathogenicity Coding sequence variant, missense variant, genic downstream transcript variant
rs118203955 G>A,C Pathogenic Intron variant, genic downstream transcript variant, stop gained, missense variant, coding sequence variant
rs118203956 G>A Pathogenic Genic downstream transcript variant, missense variant, coding sequence variant
rs143549737 T>G Likely-pathogenic Coding sequence variant, intron variant, missense variant
rs782439454 CT>- Likely-pathogenic Genic downstream transcript variant, frameshift variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
486
miRTarBase ID miRNA Experiments Reference
MIRT029379 hsa-miR-26b-5p Microarray 19088304
MIRT440010 hsa-miR-142-3p HITS-CLIP 22473208
MIRT440010 hsa-miR-142-3p HITS-CLIP 22473208
MIRT1223407 hsa-miR-1252 CLIP-seq
MIRT1223408 hsa-miR-1827 CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
28
GO ID Ontology Definition Evidence Reference
GO:0004659 Function Prenyltransferase activity IBA
GO:0004659 Function Prenyltransferase activity IEA
GO:0005515 Function Protein binding IPI 16262699
GO:0005739 Component Mitochondrion HTP 34800366
GO:0005739 Component Mitochondrion IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
610564 23041 ENSG00000164494
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q86YH6
Protein name All trans-polyprenyl-diphosphate synthase PDSS2 (All-trans-decaprenyl-diphosphate synthase subunit 2) (EC 2.5.1.91) (Candidate tumor suppressor protein) (Decaprenyl pyrophosphate synthase subunit 2) (Decaprenyl-diphosphate synthase subunit 2) (Solanesyl-d
Protein function Heterotetrameric enzyme that catalyzes the condensation of farnesyl diphosphate (FPP), which acts as a primer, and isopentenyl diphosphate (IPP) to produce prenyl diphosphates of varying chain lengths and participates in the determination of the
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00348 polyprenyl_synt 106 316 Polyprenyl synthetase Domain
Sequence
MNFRQLLLHLPRYLGASGSPRRLWWSPSLDTISSVGSWRGRSSKSPAHWNQVVSEAEKIV
GYPTSFMSLRCLLSDELSNIAMQVRKLVGTQHPLLTTARGLVHDSWNSLQLRGLVVLLIS
KAAGPSSVNTSCQNYDMVSGIYSCQRSLAEITELIHIALLVHRGIVNLNELQSSDGPLKD
MQFGNKIAILSGDFLLANACNGLALLQNTKVVELLASALMDLVQGVYHENSTSKESYITD
DIGISTWKEQTFLSHGALLAKSCQAAMELAKHDAEVQNMAFQYGKHMAMSHKINSDVQPF
IKEKTSDSMTFNLNSA
PVVLHQEFLGRDLWIKQIGEAQEKGRLDYAKLRERIKAGKGVTS
AIDLCRYHGNKALEALESFPPSEARSALENIVFAVTRFS
Sequence length 399
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Terpenoid backbone biosynthesis   Ubiquinol biosynthesis
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
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Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Coenzyme Q10 deficiency, primary, 3 Likely pathogenic; Pathogenic rs1782160930, rs118203955 RCV005037749
RCV000001259
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Coenzyme Q10 deficiency Uncertain significance; Likely benign rs886060915, rs886060914, rs35619837, rs782037173 RCV000305305
RCV000335677
RCV000286678
RCV000278517
Focal segmental glomerulosclerosis Uncertain significance; Conflicting classifications of pathogenicity rs2482669470, rs192206443 RCV002294658
RCV002294406
Gastric cancer Conflicting classifications of pathogenicity rs192206443 RCV005906054
Hepatocellular carcinoma Conflicting classifications of pathogenicity rs192206443 RCV005906052
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Carcinoma Hepatocellular Associate 25780306
Cerebellar Diseases Associate 19096106
Coenzyme Q10 Deficiency Associate 17186472
Coenzyme Q10 Deficiency Stimulate 19096106
Death Sudden Associate 33895855
Disease Associate 23926186, 31783675
Glomerulosclerosis Focal Segmental Associate 23926186, 29138824
Kidney Diseases Associate 17186472
Leigh Disease Associate 17186472
Lung Neoplasms Associate 31783675