Gene table of P3H2 : prolyl 3-hydroxylase 2

Gene-disease associations table

Disease ID	Disease name	Source of annotation with P3H2	OMIM link	Number of associated genes	genes
614292	MYOPIA, HIGH, WITH CATARACT AND VITREORETINAL DEGENERATION	ClinVar, OMIM, HUMSAVAR	link to OMIM	1	P3H2

Associated genes in ENSEMBL

Associated proteins - SwissProt Accession ID

Associated PDB IDs

Cytogenetic Band

Tandem repeats annotation

Transcription regulation as annotated in TRRUST

Associated KEGG pathways

Associated REACTOME pathways

REACTOME pathway	REACTOME ID	REACTOME IC
Collagen biosynthesis and modifying enzymes	R-HSA-1650814	6.98
Extracellular matrix organization	R-HSA-1474244	4.91
Collagen formation	R-HSA-1474290	6.56

Associated GO terms for Molecular function

GO term	GO ID	GO IC
anion binding	GO:0043168	4.17
L-ascorbic acid binding	GO:0031418	6.69
metal ion binding	GO:0046872	1.41
transition metal ion binding	GO:0046914	2.48
dioxygenase activity	GO:0051213	5.25
procollagen-proline 3-dioxygenase activity	GO:0019797	8.64
procollagen-proline dioxygenase activity	GO:0019798	7.79
oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen	GO:0016705	4.65
carboxylic acid binding	GO:0031406	4.64
cation binding	GO:0043169	1.4
vitamin binding	GO:0019842	5.34
ion binding	GO:0043167	1.36
small molecule binding	GO:0036094	1.89
catalytic activity	GO:0003824	1.05
oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors	GO:0016706	5.95
binding	GO:0005488	0.18
iron ion binding	GO:0005506	4.65
peptidyl-proline 3-dioxygenase activity	GO:0031544	8.35
peptidyl-proline dioxygenase activity	GO:0031543	7.25
oxidoreductase activity	GO:0016491	3.12