ENSG00000090530


Homo sapiens

Features
Gene ID: ENSG00000090530
  
Biological name :P3H2
  
Synonyms : P3H2 / prolyl 3-hydroxylase 2 / Q8IVL5
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 3
Strand: -1
Band: q28
Gene start: 189956728
Gene end: 190122437
  
Corresponding Affymetrix probe sets: 218717_s_at (Human Genome U133 Plus 2.0 Array)   230813_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000316881
Ensembl peptide - ENSP00000408947
Ensembl peptide - ENSP00000394326
Ensembl peptide - ENSP00000391374
NCBI entrez gene - 55214     See in Manteia.
OMIM - 610341
RefSeq - XM_011512955
RefSeq - NM_001134418
RefSeq - NM_018192
RefSeq Peptide - NP_001127890
RefSeq Peptide - NP_060662
swissprot - C9JSL4
swissprot - C9J313
swissprot - Q8IVL5
Ensembl - ENSG00000090530
  
Related genetic diseases (OMIM): 614292 - Myopia, high, with cataract and vitreoretinal degeneration, 614292
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
 p3h2ENSDARG00000103026Danio rerio
 P3H2ENSGALG00000040866Gallus gallus
 P3h2ENSMUSG00000038168Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
P3H1 / Q32P28 / prolyl 3-hydroxylase 1ENSG0000011738548
P3H3 / Q8IVL6 / prolyl 3-hydroxylase 3ENSG0000011081142
CRTAP / O75718 / cartilage associated proteinENSG0000017027518
P3H4 / Q92791 / prolyl 3-hydroxylase family member 4 (non-enzymatic)ENSG0000014169618


Protein motifs (from Interpro)
Interpro ID Name
 IPR005123  Oxoglutarate/iron-dependent dioxygenase
 IPR006620  Prolyl 4-hydroxylase, alpha subunit
 IPR011990  Tetratricopeptide-like helical domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0008285 negative regulation of cell proliferation IDA
 biological_processGO:0019511 peptidyl-proline hydroxylation IDA
 biological_processGO:0032963 collagen metabolic process IDA
 biological_processGO:0055114 oxidation-reduction process IEA
 cellular_componentGO:0005604 basement membrane ISS
 cellular_componentGO:0005783 endoplasmic reticulum IEA
 cellular_componentGO:0005788 endoplasmic reticulum lumen TAS
 cellular_componentGO:0005794 Golgi apparatus IEA
 cellular_componentGO:0016529 sarcoplasmic reticulum IEA
 molecular_functionGO:0005506 iron ion binding IEA
 molecular_functionGO:0005515 protein binding IEA
 molecular_functionGO:0016491 oxidoreductase activity IEA
 molecular_functionGO:0016705 oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen IEA
 molecular_functionGO:0019797 procollagen-proline 3-dioxygenase activity IEA
 molecular_functionGO:0031418 L-ascorbic acid binding IEA
 molecular_functionGO:0046872 metal ion binding IEA
 molecular_functionGO:0051213 dioxygenase activity IEA


Pathways (from Reactome)
Pathway description
Collagen biosynthesis and modifying enzymes


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:0000518 Cataract "A cataract is an opacity or clouding that develops in the crystalline `lens` (FMA:58241) of the eye or in its `capsule` (FMA:58881)." [HPO:probinson]
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 HP:0000541 Detached retina 
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 HP:0001132 Lens subluxation "Partial dislocation of the lens of the eye." [HPO:curators]
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 HP:0011003 Severe Myopia 
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 HP:0200071 Peripheral vitreoretinal degeneration 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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