Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
57107
Gene name Gene Name - the full gene name approved by the HGNC.
Decaprenyl diphosphate synthase subunit 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
PDSS2
Synonyms (NCBI Gene) Gene synonyms aliases
C6orf210, COQ10D3, COQ1B, DLP1, bA59I9.3, hDLP1
Chromosome Chromosome number
6
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
6q21
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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.
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 information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
610564 23041 ENSG00000164494
Protein
UniProt ID 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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Coenzyme Q10 Deficiency coenzyme q10 deficiency, primary, 3 rs118203955 N/A
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
focal segmental glomerulosclerosis Focal segmental glomerulosclerosis N/A N/A ClinVar
Leigh Syndrome Leigh syndrome N/A N/A GenCC
Leigh Syndrome With Nephrotic Syndrome Leigh syndrome with nephrotic syndrome N/A N/A GenCC
Nephrotic Syndrome nephrotic syndrome N/A N/A ClinVar
Associations from Text Mining Disease 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