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 (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
15
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Coenzyme Q10 deficiency, primary, 3 Likely pathogenic; Pathogenic rs1782160930, rs118203955 RCV005037749
RCV000001259
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
Coenzyme Q10 deficiency Uncertain significance; Likely benign ClinVar
Disgenet
★★★☆☆
Reported in Unknown/Other Associations (≥2 sources)
FOCAL GLOMERULOSCLEROSIS Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Focal segmental glomerulosclerosis Uncertain significance; Conflicting classifications of pathogenicity ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Gastric cancer Conflicting classifications of pathogenicity ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Akinesia Akinesia BEFREE 30167934
★☆☆☆☆
Found in Text Mining only
Carcinoma Hepatocellular Hepatocellular carcinoma Pubtator 25780306 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma of lung Lung carcinoma BEFREE 23312889, 24608273, 31783675
★☆☆☆☆
Found in Text Mining only
Central visual impairment Central Visual Impairment HPO_DG
★☆☆☆☆
Found in Text Mining only
Cerebellar Diseases Cerebellar diseases Pubtator 19096106 Associate
★☆☆☆☆
Found in Text Mining only
Chronic Obstructive Airway Disease Chronic Obstructive Pulmonary Disease GWASCAT_DG 25514360
★☆☆☆☆
Found in Text Mining only
Cirrhosis Cirrhosis BEFREE 25189544
★☆☆☆☆
Found in Text Mining only
COENZYME Q10 DEFICIENCY Coenzyme Q10 Deficiency BEFREE 17186472, 29032433
★★★☆☆
Reported in Unknown/Other Associations (≥2 sources)
Coenzyme Q10 Deficiency Coenzyme q10 deficiency Pubtator 17186472 Associate
★★★☆☆
Reported in Unknown/Other Associations (≥2 sources)
Coenzyme Q10 Deficiency Coenzyme q10 deficiency Pubtator 19096106 Stimulate
★★★☆☆
Reported in Unknown/Other Associations (≥2 sources)