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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
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P4HA2
prolyl 4-hydroxylase subunit alpha 2
Chromosome 5 Β· 5q31.1
NCBI Gene: 8974Ensembl: ENSG00000072682.21HGNC: HGNC:8547UniProt: O15460
93PubMed Papers
21Diseases
0Drugs
4Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
endoplasmic reticulumprotein bindingprocollagen-proline 4-dioxygenase activityprocollagen-proline 4-dioxygenase complexmyopiamyopia 25, autosomal dominantdengue diseaseinflammatory bowel disease
✦AI Summary

P4HA2 encodes prolyl 4-hydroxylase subunit alpha 2, which catalyzes the post-translational formation of 4-hydroxyproline in collagen sequences and functions within the endoplasmic reticulum 1. Beyond its classical collagen modification role, P4HA2 exhibits diverse pathological functions across multiple diseases. In hepatic cholestatic diseases, P4HA2 is highly elevated in patients with primary biliary cholangitis and primary sclerosing cholangitis, where it promotes ductular reaction and biliary fibrosis by regulating the SAV1-mediated Hippo signaling pathway 2. In cancer, P4HA2 demonstrates oncogenic properties through multiple mechanisms: it directly binds and hydroxylates mTOR at proline 2341, activating mTOR kinase and downstream effectors like S6K and AKT in lung adenocarcinoma 3; it promotes radiotherapy resistance in breast cancer by enhancing stemness and DNA damage repair 4; and it mediates resistance to iodine-125 brachytherapy in esophageal cancer through PINK1/parkin-dependent mitophagy 5. P4HA2 also regulates glycolysis-driven histone lactylation in gastric cancer 6. Clinically, P4HA2 mutations are associated with early-onset high myopia 7, while its overexpression correlates with poor prognosis in multiple cancers 8. These findings establish P4HA2 as a potential therapeutic target across diverse pathological conditions.

Sources cited
1
P4HA2 functions in the endoplasmic reticulum and affects collagen trafficking
PMID: 39693409
2
P4HA2 is elevated in cholestatic liver diseases and promotes fibrosis through Hippo signaling
PMID: 36799463
3
P4HA2 directly hydroxylates mTOR at P2341, activating mTOR kinase in lung cancer
PMID: 38654109
4
P4HA2 promotes radiotherapy resistance in breast cancer through stemness and DNA repair
PMID: 41424847
5
P4HA2 mediates iodine-125 radioresistance via PINK1/parkin-dependent mitophagy
PMID: 41053045
6
P4HA2 regulates glycolysis-driven histone lactylation in gastric cancer
PMID: 41385949
7
P4HA2 mutations are associated with early-onset high myopia
PMID: 37191617
8
P4HA2 overexpression participates in cancer progression across multiple tumor types
PMID: 34009234
Disease Associationsβ“˜21
myopiaOpen Targets
0.64Moderate
myopia 25, autosomal dominantOpen Targets
0.48Moderate
dengue diseaseOpen Targets
0.37Weak
inflammatory bowel diseaseOpen Targets
0.36Weak
asthmaOpen Targets
0.32Weak
atopic eczemaOpen Targets
0.32Weak
chronic rhinosinusitisOpen Targets
0.32Weak
goutOpen Targets
0.28Weak
allergic rhinitisOpen Targets
0.23Weak
Nasal polyposisOpen Targets
0.22Weak
Alzheimer diseaseOpen Targets
0.21Weak
Parkinson diseaseOpen Targets
0.21Weak
lysosomal storage diseaseOpen Targets
0.21Weak
multiple sclerosisOpen Targets
0.21Weak
neurodegenerative diseaseOpen Targets
0.21Weak
hypertensionOpen Targets
0.20Weak
B-cell acute lymphoblastic leukemiaOpen Targets
0.20Weak
dermatitisOpen Targets
0.19Weak
temporal arteritisOpen Targets
0.19Weak
skin agingOpen Targets
0.19Weak
Myopia 25, autosomal dominantUniProt
Pathogenic Variants4
NM_001017974.2(P4HA2):c.601G>C (p.Glu201Gln)Likely pathogenic
Myopia 25, autosomal dominant|High myopia, early-onset
β˜…β˜…β˜†β˜†2025β†’ Residue 201
NM_001017974.2(P4HA2):c.751G>A (p.Glu251Lys)Likely pathogenic
High myopia, early-onset|Myopia 25, autosomal dominant
β˜…β˜…β˜†β˜†2022β†’ Residue 251
NM_001017974.2(P4HA2):c.419A>G (p.Gln140Arg)Pathogenic
Myopia 25, autosomal dominant
β˜†β˜†β˜†β˜†2016β†’ Residue 140
NM_001365677.2(P4HA2):c.1352_1353del (p.Val451fs)Pathogenic
Myopia 25, autosomal dominant
β˜†β˜†β˜†β˜†2016β†’ Residue 451
View on ClinVar β†—
Related Genes
PYCR2Protein interaction98%PDIA3Protein interaction96%PRODH2Protein interaction92%PRODHProtein interaction92%PYCR1Protein interaction92%PYCR3Protein interaction92%
Tissue Expression6 tissues
Heart
100%
Lung
71%
Liver
24%
Ovary
16%
Brain
16%
Bone Marrow
12%
Gene Interaction Network
Click a node to explore
P4HA2PYCR2PDIA3PRODH2PRODHPYCR1PYCR3
PROTEIN STRUCTURE
Preparing viewer…
PDB6EVN Β· 1.48 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.84LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.62 [0.46–0.84]
RankingsWhere P4HA2 stands among ~20K protein-coding genes
  • #5,158of 20,598
    Most Researched93
  • #3,752of 5,498
    Most Pathogenic Variants4
  • #7,239of 17,882
    Most Constrained (LOEUF)0.84
Genes detectedP4HA2
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
P4HA2 induces hepatic ductular reaction and biliary fibrosis in chronic cholestatic liver diseases.
PMID: 36799463
Hepatology Β· 2023
1.00
2
Single-cell and spatial transcriptomics reveal P4HA2-mediated radiotherapy resistance mechanisms in breast cancer.
PMID: 41424847
Theranostics Β· 2026
0.90
3
Dextromethorphan inhibits collagen and collagen-like cargo secretion to ameliorate lung fibrosis.
PMID: 39693409
Sci Transl Med Β· 2024
0.80
4
P4HA2 activates mTOR via hydroxylation and targeting P4HA2-mTOR inhibits lung adenocarcinoma cell growth.
PMID: 38654109
Oncogene Β· 2024
0.70
5
Collagen prolyl 4-hydroxylases modify tumor progression.
PMID: 34009234
Acta Biochim Biophys Sin (Shanghai) Β· 2021
0.60