P3H2 Chromosome 3
Prolyl 3-hydroxylase 2
Upload your DNA to see your personal genotypes for variants in P3H2.
What This Gene Does
This gene encodes a member of the prolyl 3-hydroxylase subfamily of 2-oxo-glutarate-dependent dioxygenases. These enzymes play a critical role in collagen chain assembly, stability and cross-linking by catalyzing post-translational 3-hydroxylation of proline residues. Mutations in this gene are associated with nonsyndromic severe myopia with cataract and vitreoretinal degeneration, and downregulation of this gene may play a role in breast cancer. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]
Gene Info
Gene Group
Prolyl 3-hydroxylase family
Locus Type
gene with protein product
Location
3q28
Ensembl
ENSG00000090530
Associated Conditions (8)
Myopia
high
with cataract and vitreoretinal degeneration
Inborn genetic diseases
P3H2-related disorder
Melanoma
Rare isolated myopia
Retinitis pigmentosa
Key Variants
RS117688924
Conflicting classifications of pathogenicity
Myopia, high, with cataract and vitreoretinal degeneration
Health Risk
RS144303961
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS181536548
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS35072845
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS745507744
Conflicting classifications of pathogenicity
Health Risk
RS772939460
Conflicting classifications of pathogenicity
Inborn genetic diseases, P3H2-related disorder, Inborn genetic diseases
Health Risk
RS1234705457
Likely pathogenic
Health Risk
RS1295191218
Likely pathogenic
Health Risk
RS1408355931
Likely pathogenic
Myopia, high, with cataract and vitreoretinal degeneration
Health Risk
RS1577254356
Likely pathogenic
Melanoma, Melanoma
Health Risk
RS1723717935
Likely pathogenic
Health Risk
RS2473819666
Likely pathogenic
Health Risk
All Variants (49)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS117688924 | Health Risk | Conflicting classifications of pathogenicity | Myopia, high, with cataract and vitreoretinal degeneration |
| RS144303961 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS181536548 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS35072845 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS745507744 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS772939460 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, P3H2-related disorder, Inborn genetic diseases |
| RS1234705457 | Health Risk | Likely pathogenic | — |
| RS1295191218 | Health Risk | Likely pathogenic | — |
| RS1408355931 | Health Risk | Likely pathogenic | Myopia, high, with cataract and vitreoretinal degeneration |
| RS1577254356 | Health Risk | Likely pathogenic | Melanoma, Melanoma |
| RS1723717935 | Health Risk | Likely pathogenic | — |
| RS2473819666 | Health Risk | Likely pathogenic | — |
| RS2473981502 | Health Risk | Likely pathogenic | — |
| RS748561222 | Health Risk | Likely pathogenic | — |
| RS875989838 | Health Risk | Likely pathogenic | Myopia, high, with cataract and vitreoretinal degeneration |
| RS1201599033 | Health Risk | Pathogenic | — |
| RS1265306168 | Health Risk | Pathogenic | — |
| RS1303186336 | Health Risk | Pathogenic | — |
| RS1384962507 | Health Risk | Pathogenic | — |
| RS1560347618 | Health Risk | Pathogenic | — |
| RS1560348513 | Health Risk | Pathogenic | — |
| RS1712515698 | Health Risk | Pathogenic | — |
| RS200083855 | Health Risk | Pathogenic | Rare isolated myopia, Rare isolated myopia |
| RS2108531489 | Health Risk | Pathogenic | — |
| RS2108532290 | Health Risk | Pathogenic | — |
| RS2108908334 | Health Risk | Pathogenic | Myopia, high, with cataract and vitreoretinal degeneration |
| RS2108909805 | Health Risk | Pathogenic | — |
| RS2108910327 | Health Risk | Pathogenic | — |
| RS2473981746 | Health Risk | Pathogenic | — |
| RS2473982076 | Health Risk | Pathogenic | — |
| RS2473982808 | Health Risk | Pathogenic | — |
| RS35067805 | Health Risk | Pathogenic | — |
| RS724160006 | Health Risk | Pathogenic | Myopia, high, with cataract and vitreoretinal degeneration |
| RS746258258 | Health Risk | Pathogenic | — |
| RS746433619 | Health Risk | Pathogenic | — |
| RS748303654 | Health Risk | Pathogenic | — |
| RS755039988 | Health Risk | Pathogenic | — |
| RS755353918 | Health Risk | Pathogenic | — |
| RS767012332 | Health Risk | Pathogenic | — |
| RS772782439 | Health Risk | Pathogenic | — |
| RS773586841 | Health Risk | Pathogenic | Myopia, high, with cataract and vitreoretinal degeneration |
| RS777721300 | Health Risk | Pathogenic | — |
| RS778079243 | Health Risk | Pathogenic | — |
| RS781505573 | Health Risk | Pathogenic | — |
| RS1064796858 | Health Risk | Pathogenic/Likely pathogenic | — |
| RS1440913446 | Health Risk | Pathogenic/Likely pathogenic | P3H2-related disorder, P3H2-related disorder |
| RS377600857 | Health Risk | Pathogenic/Likely pathogenic | Retinitis pigmentosa, Myopia, high |
| RS724159988 | Health Risk | Pathogenic/Likely pathogenic | Myopia, high, with cataract and vitreoretinal degeneration |
| RS895635914 | Health Risk | Pathogenic/Likely pathogenic | — |