Entity Details

Primary name P3H2_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ8IVL5
EntryNameP3H2_HUMAN
FullNameProlyl 3-hydroxylase 2
TaxID9606
Evidenceevidence at protein level
Length708
SequenceStatuscomplete
DateCreated2006-06-27
DateModified2021-06-02

Ontological Relatives

GenesP3H2

GO terms

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GOName
GO:0005506 iron ion binding
GO:0005604 basement membrane
GO:0005654 nucleoplasm
GO:0005783 endoplasmic reticulum
GO:0005788 endoplasmic reticulum lumen
GO:0005794 Golgi apparatus
GO:0005829 cytosol
GO:0008285 negative regulation of cell population proliferation
GO:0016529 sarcoplasmic reticulum
GO:0019511 peptidyl-proline hydroxylation
GO:0019797 procollagen-proline 3-dioxygenase activity
GO:0030199 collagen fibril organization
GO:0031418 L-ascorbic acid binding
GO:0032963 collagen metabolic process
GO:0043231 intracellular membrane-bounded organelle

Subcellular Location

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Subcellular Location
Endoplasmic reticulum
Golgi apparatus
Sarcoplasmic reticulum

Domains

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DomainNameCategoryType
IPR005123 Oxoglutarate/iron-dependent dioxygenaseDomainDomain
IPR006620 Prolyl 4-hydroxylase, alpha subunitDomainDomain
IPR011990 Tetratricopeptide-like helical domain superfamilyFamilyHomologous superfamily
IPR039575 Prolyl 3-hydroxylaseFamilyFamily
IPR039838 Prolyl 3-hydroxylase 2FamilyFamily

Diseases

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Disease IDSourceNameDescription
614292 OMIMMyopia, high, with cataract and vitreoretinal degeneration (MCVD)A disorder characterized by severe myopia with variable expressivity of cataract and vitreoretinal degeneration. Some patients manifest lens subluxation, lens instability and retinal detachment. The disease is caused by variants affecting the gene represented in this entry.

Drugs

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DrugNameSourceType
DB00126 Ascorbic acidDrugbanksmall molecule
DB00139 Succinic acidDrugbanksmall molecule
DB00172 ProlineDrugbanksmall molecule

Interactions

0 interactions

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