Version: 8.0.0Date: Tue Jan 28 2025
Gene
PDSS2
- Species
- Homo sapiens
- Symbol
- PDSS2
- Name
- decaprenyl diphosphate synthase subunit 2
- Synonyms
- all trans-polyprenyl-diphosphate synthase PDSS2
- all-trans-decaprenyl-diphosphate synthase subunit 2
- Biotype
- protein coding gene
- Automated Description
- Contributes to all-trans-decaprenyl-diphosphate synthase activity. Involved in isoprenoid biosynthetic process and ubiquinone biosynthetic process. Located in cytosol. Part of heterotetrameric polyprenyl diphosphate synthase complex. Implicated in primary coenzyme Q10 deficiency 3.
- RGD Description
- 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 isopentyl diphosphate in the assembly of polyisoprenoid side chains, the first step in coenzyme Q biosynthesis. Defects in this gene are a cause of coenzyme Q10 deficiency.[provided by RefSeq, Oct 2009]
- Cross References
- Additional Information
- Literature
Orthology
- Gene tree
- PANTHER:PTHR12001
Stringency:
Additional filters to further constrain the results:
| Species | Gene symbol | Count | Best | Best reverse | Method Ensembl ComparaHGNCHieranoidInParanoidOMAOrthoFinderOrthoInspectorPANTHERPhylomeDBSonicParanoidXenbaseZFIN |
|---|---|---|---|---|---|
| Mus musculus | Pdss2 | 10 of 10 | Yes | Yes | ☑☑☑☑☑☑☑☑☑☑ |
| Rattus norvegicus | Pdss2 | 10 of 10 | Yes | Yes | ☑☑☑☑☑☑☑☑☑☑ |
| Xenopus tropicalis | pdss2 | 8 of 9 | Yes | Yes | ☑ ☑☑☑☑☑☑☑☐ |
| Danio rerio | pdss2 | 10 of 10 | Yes | Yes | ☑ ☑☑☑☑☑☑☑☑ ☑ |
| Drosophila melanogaster | Pdss2 | 9 of 9 | Yes | Yes | ☑ ☑☑☑☑☑☑☑☑ |
| Saccharomyces cerevisiae | COQ1 | 3 of 9 | Yes | No | ☐ ☐☐☐☑☐☑☑☐ |
Links to orthology data in JBrowse by filter level: Stringent, Moderate, No filter, Best and Best Reverse
Phenotypes
- Primary Sources
- None
- Other Sources
Phenotype Term | Annotation details | References |
|---|---|---|
| Autosomal recessive inheritance | ||
| Bilateral tonic-clonic seizure with focal onset | ||
| Cerebral visual impairment | ||
| Decreased level of coenzyme Q10 in skeletal muscle | ||
| Edema | ||
| Feeding difficulties | ||
| Focal motor status epilepticus | ||
| Focal T2 hyperintense basal ganglia lesion | ||
| Hypoalbuminemia | ||
| Increased circulating lactate concentration |
Disease Associations
Cases where the expected disease association was NOT found
Must provide at least one subject
Cell color indicative of annotation volume
Species | Gene | Association | Disease Qualifier | Disease | Evidence | Source | Based On | References |
|---|---|---|---|---|---|---|---|---|
| No records match query. Try removing filters. | ||||||||
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Alleles and Variants
- Genome location
- Chr6:107152562...107459564 - (307.00 kb)
- Assembly version
- GRCh38
- Viewer Help
Data currently unavailable; sequence viewer under construction
Allele/Variant Symbol | Allele Synonyms | Category | Variant | Variant type | Molecular consequence | Has Disease Annotations | Has Phenotype Annotations |
|---|---|---|---|---|---|---|---|
| NC_000006.12:g.107154696C>T | variant | SNP
| |||||
| NC_000006.12:g.107274107T>G | variant | SNP
| |||||
| NC_000006.12:g.107334261G>A | variant | SNP
| |||||
| NC_000006.12:g.107459105C>T | variant | SNP
| |||||
| NC_000006.12:g.107459132C>T | variant | SNP
| |||||
| NC_000006.12:g.107274094T>C | variant | SNP
| |||||
| NC_000006.12:g.107274143T>C | variant | SNP
| |||||
| NC_000006.12:g.107274165A>G | variant | SNP
| |||||
| NC_000006.12:g.107274273T>A | variant | SNP
| |||||
| NC_000006.12:g.107212150T>C | variant | SNP
| |||||
Sequence Feature Viewer
- Genome location
- Chr6:107152562...107459564 - (307.00 kb)
- Assembly version
- GRCh38
- Viewer Help
Data currently unavailable; sequence viewer under construction
Expression
- Primary Sources
- None
- Other Sources
Must provide at least one subject
Cell color indicative of annotation volume; red slash indicates species lacks structure or developmental stage.
Molecular Interactions
28 interactor genes based on 34 annotations
PDSS2 molecule type | Interactor gene | Interactor species | Interactor molecule type | Detection methods | Source | Reference |
|---|---|---|---|---|---|---|
protein | ACAD9 | Homo sapiens | protein |
| PMID:28514442 | |
protein | ACAD9 | Homo sapiens | protein |
| PMID:33961781 | |
protein | ACAT1 | Homo sapiens | protein |
| PMID:33961781 | |
protein | APP | Homo sapiens | protein |
| PMID:21832049 | |
protein | CCDC90B | Homo sapiens | protein |
| PMID:32877691 | |
protein | COX5B | Homo sapiens | protein |
| PMID:33961781 | |
RNA | DDX39A | Homo sapiens | protein |
| PMID:32393512 | |
RNA | ELAVL1 | Homo sapiens | protein |
| PMID:19322201 | |
protein | FDPS | Homo sapiens | protein |
| PMID:28514442 | |
protein | FDPS | Homo sapiens | protein |
| PMID:33961781 |
Genetic Interactions
PDSS2 role | PDSS2 genetic perturbation | Interactor gene | Interactor species | Interactor role | Interactor genetic perturbation | Interaction type | Phenotype or trait | Source | Reference |
|---|---|---|---|---|---|---|---|---|---|
unspecified role | ATP1A1 | Homo sapiens | unspecified role | negative genetic interaction (sensu BioGRID) |
| PMID:30033366 | |||
unspecified role | EIF4A1 | Homo sapiens | unspecified role | positive genetic interaction (sensu BioGRID) |
| PMID:30033366 | |||
unspecified role | FH | Homo sapiens | unspecified role | positive genetic interaction (sensu BioGRID) |
| PMID:30033366 | |||
unspecified role | SNRPG | Homo sapiens | unspecified role | negative genetic interaction (sensu BioGRID) |
| PMID:30033366 | |||
unspecified role | TIMELESS | Homo sapiens | unspecified role | negative genetic interaction (sensu BioGRID) |
| PMID:30033366 |
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