ENSG00000164494


Homo sapiens

Features
Gene ID: ENSG00000164494
  
Biological name :PDSS2
  
Synonyms : decaprenyl diphosphate synthase subunit 2 / PDSS2 / Q86YH6
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 6
Strand: -1
Band: q21
Gene start: 107152557
Gene end: 107459564
  
Corresponding Affymetrix probe sets: 1555886_at (Human Genome U133 Plus 2.0 Array)   219307_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000358027
Ensembl peptide - ENSP00000358033
Ensembl peptide - ENSP00000392613
NCBI entrez gene - 57107     See in Manteia.
OMIM - 610564
RefSeq - XM_017011082
RefSeq - NM_020381
RefSeq - XM_011535961
RefSeq - XM_011535962
RefSeq - XM_011535963
RefSeq - XM_011535956
RefSeq - XM_011535957
RefSeq - XM_011535958
RefSeq - XM_011535959
RefSeq - XM_011535960
RefSeq Peptide - NP_065114
swissprot - Q5JRD6
swissprot - Q86YH6
Ensembl - ENSG00000164494
  
Related genetic diseases (OMIM): 614652 - Coenzyme Q10 deficiency, primary, 3, 614652
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 pdss2ENSDARG00000012563Danio rerio
 PDSS2ENSGALG00000015313Gallus gallus
 Pdss2ENSMUSG00000038240Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
PDSS1 / Q5T2R2 / decaprenyl diphosphate synthase subunit 1ENSG0000014845920


Protein motifs (from Interpro)
Interpro ID Name
 IPR000092  Polyprenyl synthetase
 IPR008949  Isoprenoid synthase domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006744 ubiquinone biosynthetic process TAS
 biological_processGO:0008299 isoprenoid biosynthetic process IDA
 biological_processGO:0050878 regulation of body fluid levels IEA
 biological_processGO:0051290 protein heterotetramerization IEA
 cellular_componentGO:0005739 mitochondrion IEA
 cellular_componentGO:0005759 mitochondrial matrix TAS
 cellular_componentGO:0005829 cytosol IDA
 cellular_componentGO:1990234 transferase complex IDA
 molecular_functionGO:0000010 trans-hexaprenyltranstransferase activity IDA
 molecular_functionGO:0016740 transferase activity IEA
 molecular_functionGO:0046982 protein heterodimerization activity IDA
 molecular_functionGO:0050347 trans-octaprenyltranstransferase activity IEA


Pathways (from Reactome)
Pathway description
Ubiquinol biosynthesis


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000007 Autosomal recessive inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators]
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 HP:0000093 Proteinuria 
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 HP:0000100 Nephrotic syndrome 
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 HP:0000969 Edema "An abnormal accumulation of fluid beneath the skin, or in one or more cavities of the body. Edema may be related to one or more of the following factors: 1) increased capillary hydrostatic pressure, 2) decreased osmotic pressure of plasma, 3) decreased tissue tension and lymphatic drainage, 4) increased osmotic pressure of tissue fluids, and 5) increased capillary permeability." [HPO:curators]
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 HP:0001319 Neonatal hypotonia "Muscular hypotonia (abnormally low muscle tone) manifesting in the neonatal period." [HPO:curators]
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 HP:0002133 Status epilepticus 
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 HP:0002151 Increased serum lactate "Abnormally increased level of blood lactate (2-hydroxypropanoic acid). Lactate is produced from pyruvate by lactate dehydrogenase during normal metabolism." [HPO:curators]
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 HP:0011968 Feeding difficulties "Impaired ability to eat related to problems gathering food and getting ready to suck, chew, or swallow it." [ISCA:eriggs]
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 HP:0100704 Cortical visual impairment "A form of loss of vision caused by damage to the visual cortex rather than a defect in the eye." [HPO:probinson]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000148459 PDSS1 / Q5T2R2 / decaprenyl diphosphate synthase subunit 1  / complex
 ENSG00000164494 PDSS2 / Q86YH6 / decaprenyl diphosphate synthase subunit 2  / complex






 

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