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GeneE
10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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PRODH2
proline dehydrogenase 2
Chromosome 19 · 19q13.12
NCBI Gene: 58510Ensembl: ENSG00000250799.12HGNC: HGNC:17325UniProt: Q9UF12
7PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
oxidoreductase activity, acting on the CH-NH group of donorsproline dehydrogenase activitymitochondrionFAD bindingAbnormality of the gastrointestinal tractbreast cancerseizures-intellectual disability due to hydroxylysinuria syndromeSeizures - intellectual disability due to hydroxylysinuria
✦AI Summary

PRODH2 (proline dehydrogenase 2) is a mitochondrial oxidoreductase that catalyzes the dehydrogenation of trans-4-L-hydroxyproline to delta-1-pyrroline-3-hydroxy-5-carboxylate using ubiquinone-10 as the terminal electron acceptor 1. The enzyme preferentially metabolizes hydroxyproline (Hyp), a product of collagen degradation, over proline 1. PRODH2 has emerged as a critical metabolic regulator with immunological relevance. Overexpression of PRODH2 in CAR-T cells enhances their anti-tumor efficacy by reshaping metabolic and immune functions 23. In the bone microenvironment, PRODH2-mediated Hyp metabolism generates acetyl-CoA, which promotes osteoclast differentiation and breast cancer bone metastasis through activation of ferroptosis-suppressing and pro-inflammatory pathways 4. Clinically, biallelic PRODH2 mutations cause autosomal-recessive hydroxyprolinemia, an asymptomatic condition with estimated prevalence of 1 in 47,300 newborns 5. PRODH2 also represents a therapeutic target for primary hyperoxaluria, as hydroxyproline catabolism contributes significantly to glyoxylate and oxalate burden 1. Evidence suggests PRODH2 involvement in schizophrenia pathophysiology 6, and its expression is modulated by epigenetic mechanisms relevant to necrotizing enterocolitis 7.

Sources cited
1
PRODH2 catalyzes hydroxyproline dehydrogenation using ubiquinone-10; demonstrates 12-fold higher catalytic efficiency for hydroxyproline versus proline substrate
PMID: 25697095
2
PRODH2 overexpression in CAR-T cells enhances anti-tumor killing and in vivo efficacy through metabolic and immune function enhancement
PMID: 35276062
3
PRODH2 overexpression augments CAR-T cell proliferation, effector function, and memory phenotype
PMID: 35652211
4
PRODH2-mediated hydroxyproline metabolism promotes breast cancer bone metastasis via acetyl-CoA generation and ferroptosis suppression
PMID: 40749014
5
Biallelic PRODH2 mutations cause autosomal-recessive hydroxyprolinemia; prevalence approximately 1 in 47,300 newborns; condition is benign and asymptomatic
PMID: 27139199
6
PRODH2 identified as susceptibility gene in schizophrenia with physiological brain function
PMID: 17438657
7
PRODH2 expression is regulated by HDAC8-mediated histone acetylation in necrotizing enterocolitis pathogenesis
PMID: 37260741
Disease Associationsⓘ20
Abnormality of the gastrointestinal tractOpen Targets
0.11Weak
breast cancerOpen Targets
0.07Suggestive
Seizures - intellectual disability due to hydroxylysinuriaOpen Targets
0.05Suggestive
seizures-intellectual disability due to hydroxylysinuria syndromeOpen Targets
0.05Suggestive
carnosinemiaOpen Targets
0.05Suggestive
hyperdibasic aminoaciduria type 1Open Targets
0.05Suggestive
primary hyperoxaluria type 2Open Targets
0.05Suggestive
primary hyperoxaluria type 3Open Targets
0.05Suggestive
cystinuriaOpen Targets
0.05Suggestive
iminoglycinuriaOpen Targets
0.05Suggestive
hyperprolinemia type 2Open Targets
0.05Suggestive
hyperprolinemia type 1Open Targets
0.05Suggestive
saccharopinuriaOpen Targets
0.05Suggestive
phosphohydroxylysinuriaOpen Targets
0.05Suggestive
beta-aminoisobutyric acid, urinary excretion ofOpen Targets
0.04Suggestive
cystathioninuriaOpen Targets
0.04Suggestive
primary Fanconi syndromeOpen Targets
0.04Suggestive
pentosuriaOpen Targets
0.04Suggestive
histidinemiaOpen Targets
0.04Suggestive
proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosisOpen Targets
0.04Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
ALDH4A1Protein interaction95%OATProtein interaction92%P4HA1Protein interaction92%PYCR1Protein interaction92%P4HA2Protein interaction92%PYCR2Protein interaction92%
Tissue Expression6 tissues
Liver
100%
Lung
0%
Heart
0%
Brain
0%
Ovary
0%
Bone Marrow
0%
Gene Interaction Network
Click a node to explore
PRODH2ALDH4A1OATP4HA1PYCR1P4HA2PYCR2
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q9UF12
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.19LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.94 [0.74–1.19]
RankingsWhere PRODH2 stands among ~20K protein-coding genes
  • #17,930of 20,598
    Most Researched7
  • #12,439of 17,882
    Most Constrained (LOEUF)1.19
Genes detectedPRODH2
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
A genome-scale gain-of-function CRISPR screen in CD8 T cells identifies proline metabolism as a means to enhance CAR-T therapy.
PMID: 35276062
Cell Metab · 2022
1.00
2
PRODH2-Mediated Metabolism in the Bone Microenvironment Promotes Breast Cancer Metastasis.
PMID: 40749014
Cancer Res · 2025
0.90
3
Genetic cause and prevalence of hydroxyprolinemia.
PMID: 27139199
J Inherit Metab Dis · 2016
0.80
4
Proline dehydrogenase 2 (PRODH2) is a hydroxyproline dehydrogenase (HYPDH) and molecular target for treating primary hyperoxaluria.
PMID: 25697095
Biochem J · 2015
0.70
5
Elevated expression of histone deacetylase HDAC8 suppresses arginine-proline metabolism in necrotizing enterocolitis.
PMID: 37260741
iScience · 2023
0.60