HomeAboutRankingsData Sources
Β© 2026 GeneE
🧬
GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
P3H2
prolyl 3-hydroxylase 2
Chromosome 3 Β· 3q28
NCBI Gene: 55214Ensembl: ENSG00000090530.11HGNC: HGNC:19317UniProt: Q8IVL5
35PubMed Papers
21Diseases
0Drugs
53Pathogenic Variants
RESEARCH IMPACT
Variant-Rich
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
endoplasmic reticulumpeptidyl-proline hydroxylationcollagen metabolic processGolgi apparatusRare isolated myopiaosteoarthritis, hipretinitis pigmentosabilirubin metabolism disease
✦AI Summary

P3H2 (prolyl 3-hydroxylase 2) is an endoplasmic reticulum-localized enzyme that catalyzes the post-translational formation of 3-hydroxyproline residues in collagen chains 1. The enzyme demonstrates substrate specificity, showing high activity with type IV collagen (COL4A1) and lower activity with type I collagen (COL1A1), specifically hydroxylating the first proline in Gly-Pro-Hyp sequences where the third position contains 4-hydroxyproline 1. P3H2 plays critical roles in extracellular matrix stability and basement membrane integrity, with loss of function causing thin basement membrane nephropathy through reduced collagen IV abundance in the glomerular basement membrane 2. The enzyme is essential for angiogenesis, being induced by VEGF-A through p38 MAPK signaling and promoting pro-angiogenic endothelial cell behavior by modifying collagen IV architecture 3. Paradoxically, P3H2 exhibits context-dependent tumor suppressor properties, being epigenetically silenced in breast cancer where methylation is associated with estrogen receptor-positive tumors 4, yet promoting colorectal cancer metastasis through enhanced angiogenesis 5. P3H2 also contributes to tissue-specific collagen modification in fibrillar collagens, affecting sites beyond the primary Pro-986 position in types I, II, and V collagens 6.

Sources cited
1
P3H2 catalyzes 3-hydroxyproline formation in collagens with substrate specificity for COL4A1 and COL1A1
PMID: 18487197
2
Loss of P3H2 causes thin basement membrane nephropathy through reduced collagen IV in glomerular basement membrane
PMID: 35499085
3
P3H2 is induced by VEGF-A and essential for angiogenesis through collagen IV modification
PMID: 33918807
4
P3H2 is epigenetically silenced in breast cancer and acts as a tumor suppressor
PMID: 19436308
5
P3H2 promotes colorectal cancer metastasis through enhanced angiogenesis
PMID: 41752135
6
P3H2 contributes to tissue-specific 3-hydroxylation of fibrillar collagens beyond the primary Pro-986 site
PMID: 21757687
Disease Associationsβ“˜21
Rare isolated myopiaOpen Targets
0.75Strong
osteoarthritis, hipOpen Targets
0.49Moderate
retinitis pigmentosaOpen Targets
0.33Weak
bilirubin metabolism diseaseOpen Targets
0.32Weak
total hip arthroplastyOpen Targets
0.31Weak
osteoarthritis, kneeOpen Targets
0.31Weak
total joint arthroplastyOpen Targets
0.31Weak
ThrombocytopeniaOpen Targets
0.31Weak
eye diseaseOpen Targets
0.31Weak
placental retentionOpen Targets
0.30Weak
ovarian dysfunctionOpen Targets
0.29Weak
chronic hepatitisOpen Targets
0.29Weak
myopiaOpen Targets
0.27Weak
psoriasisOpen Targets
0.24Weak
liver diseaseOpen Targets
0.22Weak
genetic disorderOpen Targets
0.19Weak
skin diseaseOpen Targets
0.19Weak
urinary bladder cancerOpen Targets
0.18Weak
SplenomegalyOpen Targets
0.18Weak
urinary bladder carcinomaOpen Targets
0.17Weak
Myopia, high, with cataract and vitreoretinal degenerationUniProt
Pathogenic Variants53
NM_018192.4(P3H2):c.952C>T (p.Arg318Ter)Pathogenic
not provided|Rare isolated myopia
β˜…β˜…β˜†β˜†2026β†’ Residue 318
NM_018192.4(P3H2):c.1726del (p.Ser576fs)Pathogenic
not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 576
NM_018192.4(P3H2):c.1309C>T (p.Arg437Ter)Pathogenic
not provided|Myopia, high, with cataract and vitreoretinal degeneration
β˜…β˜…β˜†β˜†2025β†’ Residue 437
NM_018192.4(P3H2):c.1213C>T (p.Arg405Ter)Pathogenic
Retinitis pigmentosa|Myopia, high, with cataract and vitreoretinal degeneration|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 405
NM_018192.4(P3H2):c.1523G>T (p.Gly508Val)Pathogenic
Myopia, high, with cataract and vitreoretinal degeneration
β˜…β˜…β˜†β˜†2025β†’ Residue 508
NM_018192.4(P3H2):c.1387C>T (p.Gln463Ter)Pathogenic
not provided|P3H2-related disorder
β˜…β˜…β˜†β˜†2024β†’ Residue 463
NM_018192.4(P3H2):c.297del (p.Gly100fs)Pathogenic
Myopia, high, with cataract and vitreoretinal degeneration|not provided
β˜…β˜…β˜†β˜†2024β†’ Residue 100
NM_018192.4(P3H2):c.1328del (p.Gly443fs)Pathogenic
not provided
β˜…β˜…β˜†β˜†2024β†’ Residue 443
NM_018192.4(P3H2):c.1452+1G>TPathogenic
not provided
β˜…β˜…β˜†β˜†2023
NM_018192.4(P3H2):c.1372C>T (p.Gln458Ter)Pathogenic
not provided
β˜…β˜…β˜†β˜†2022β†’ Residue 458
NM_018192.4(P3H2):c.233_258dup (p.His87fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2026β†’ Residue 87
NM_018192.4(P3H2):c.1189-1G>ALikely pathogenic
not provided|Melanoma
β˜…β˜†β˜†β˜†2025
NM_018192.4(P3H2):c.184C>T (p.Arg62Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 62
NM_018192.4(P3H2):c.824-2A>GLikely pathogenic
not provided
β˜…β˜†β˜†β˜†2025
NM_018192.4(P3H2):c.1336_1340del (p.Leu445_Leu446insTer)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 445
NM_018192.4(P3H2):c.976del (p.Leu326fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 326
NM_018192.4(P3H2):c.267_273del (p.Ala90fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 90
NM_018192.4(P3H2):c.1615C>T (p.Arg539Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 539
NM_018192.4(P3H2):c.1548+1G>ALikely pathogenic
not provided
β˜…β˜†β˜†β˜†2025
NM_018192.4(P3H2):c.1684C>T (p.Arg562Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 562
View on ClinVar β†—
Related Genes
P4HA1Protein interaction79%P4HBProtein interaction79%P4HA2Protein interaction79%COL6A2Protein interaction73%ZBTB7CShared pathway50%TESShared pathway50%
Tissue Expression6 tissues
Ovary
100%
Lung
66%
Heart
42%
Liver
26%
Brain
8%
Bone Marrow
7%
Gene Interaction Network
Click a node to explore
P3H2P4HA1P4HBP4HA2COL6A2ZBTB7CTES
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q8IVL5
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
1.25LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF1.00 [0.80–1.25]
RankingsWhere P3H2 stands among ~20K protein-coding genes
  • #11,029of 20,598
    Most Researched35
  • #1,282of 5,498
    Most Pathogenic Variants53 Β· top quartile
  • #13,177of 17,882
    Most Constrained (LOEUF)1.25
Genes detectedP3H2
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Dextromethorphan inhibits collagen and collagen-like cargo secretion to ameliorate lung fibrosis.
PMID: 39693409
Sci Transl Med Β· 2024
1.00
2
Loss of the collagen IV modifier prolyl 3-hydroxylase 2 causes thin basement membrane nephropathy.
PMID: 35499085
J Clin Invest Β· 2022
0.90
3
Prolyl 3-Hydroxylase 2 Is a Molecular Player of Angiogenesis.
PMID: 33918807
Int J Mol Sci Β· 2021
0.80
4
Iron metabolism and preeclampsia: new insights from bioinformatics analysis.
PMID: 40592741
J Matern Fetal Neonatal Med Β· 2025
0.70
5
Prolyl 3-Hydroxylase 2 Supports a Pro-Angiogenic Milieu Promoting Colorectal Cancer Progression and Metastasis.
PMID: 41752135
Int J Mol Sci Β· 2026
0.60