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25 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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P4HB
prolyl 4-hydroxylase subunit beta
Chromosome 17 · 17q25.3
NCBI Gene: 5034Ensembl: ENSG00000185624.17HGNC: HGNC:8548UniProt: A0A024R8S5
374PubMed Papers
21Diseases
4Drugs
3Pathogenic Variants
FUNCTIONAL ROLE
Hub Gene
RESEARCH IMPACT
Highly StudiedTrending
CLINICAL
FDA Approved TargetOMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
peptidyl-proline hydroxylation to 4-hydroxy-L-prolineprocollagen-proline 4-dioxygenase activityRNA bindingprotein disulfide isomerase activityCole-Carpenter syndromefamilial hypercholesterolemiaHypercholesterolemiadengue disease
✦AI Summary

P4HB (prolyl 4-hydroxylase subunit beta) is a multifunctional endoplasmic reticulum (ER) protein that catalyzes formation, breakage, and rearrangement of disulfide bonds through two thioredoxin domains 1. As the β-subunit of collagen prolyl 4-hydroxylase, P4HB is essential for collagen hydroxylation and triple helix stability, with expression regulated by cytokines, transcription factors, and microRNAs 2. At the cell surface, P4HB functions as a reductase cleaving disulfide bonds of exofacial proteins, while intracellularly it forms and rearranges disulfide bonds of nascent proteins 1. P4HB also acts as a chaperone—at high concentrations following phosphorylation, it inhibits protein misfolding aggregation; at low concentrations, it facilitates aggregation 3. Structurally, P4HB comprises part of multichaperone condensates that enhance ER protein folding 3. Clinically, P4HB dysregulation associates with multiple malignancies. Meta-analysis of 4121 cancer patients revealed that elevated P4HB expression correlates with significantly shorter overall survival (HR 1.90; 95% CI 1.50-2.40) and is upregulated in 13 cancer types 4. P4HB participates in cancer progression through HIF-1α-regulated pathways in gastric cancer 5 and represents part of prognostic signatures in pancreatic cancer liver metastasis 6. In hepatic fibrosis, the IRE1/P4HB axis regulates collagen production and disease severity 7. Additionally, P4HB mutations cause Cole-Carpenter syndrome, with P4HB mutations identified in 0.6% of moderate-to-severe osteogenesis imperfecta cases 8, highlighting its critical role in collagen maturation and bone homeostasis.

Sources cited
1
P4HB catalyzes formation, breakage and rearrangement of disulfide bonds through thioredoxin domains and maintains ER oxidizing environment
PMID: 38029391
2
P4HB is the β-subunit of collagen prolyl 4-hydroxylase and expression is regulated by cytokines, transcription factors, and microRNAs
PMID: 34009234
3
P4HB participates in multichaperone condensates that enhance protein folding in the ER lumen
PMID: 40789936
4
High P4HB expression correlates with shorter overall survival (HR 1.90) and is upregulated in 13 cancer types
PMID: 37119730
5
P4HB associates with HIF-1α and plays a role in gastric cancer invasiveness and metastasis
PMID: 31467922
6
P4HB is part of a 7-gene prognostic signature for pancreatic cancer with liver metastasis and endoplasmic reticulum stress
PMID: 38685045
7
The IRE1/P4HB axis regulates collagen production and is involved in liver fibrosis pathogenesis
PMID: 40202514
8
P4HB mutations account for 0.6% of moderate-to-severe osteogenesis imperfecta cases
PMID: 27509835
Disease Associationsⓘ21
Cole-Carpenter syndromeOpen Targets
0.74Strong
familial hypercholesterolemiaOpen Targets
0.52Moderate
HypercholesterolemiaOpen Targets
0.51Moderate
dengue diseaseOpen Targets
0.47Moderate
cardiovascular diseaseOpen Targets
0.38Weak
osteogenesis imperfecta type 1Open Targets
0.37Weak
homozygous familial hypercholesterolemiaOpen Targets
0.33Weak
genetic disorderOpen Targets
0.19Weak
osteogenesis imperfectaOpen Targets
0.12Weak
breast cancerOpen Targets
0.11Weak
gliomaOpen Targets
0.11Weak
cancerOpen Targets
0.11Weak
hepatocellular carcinomaOpen Targets
0.11Weak
glioblastoma multiformeOpen Targets
0.10Suggestive
HypertriglyceridemiaOpen Targets
0.09Suggestive
familial hyperlipidemiaOpen Targets
0.09Suggestive
neoplasmOpen Targets
0.09Suggestive
type 1 diabetes mellitusOpen Targets
0.09Suggestive
amyotrophic lateral sclerosisOpen Targets
0.09Suggestive
bladder transitional cell carcinomaOpen Targets
0.09Suggestive
Cole-Carpenter syndrome 1UniProt
Pathogenic Variants3
NM_000918.4(P4HB):c.1178A>G (p.Tyr393Cys)Pathogenic
Cole-Carpenter syndrome 1|not provided
★☆☆☆2023→ Residue 393
NM_000918.4(P4HB):c.1198T>C (p.Cys400Arg)Likely pathogenic
not provided
★☆☆☆2022→ Residue 400
NM_000918.4(P4HB):c.236dup (p.Leu79fs)Likely pathogenic
Cole-Carpenter syndrome 1
★☆☆☆2020→ Residue 79
View on ClinVar ↗
Drug Targets4
IMPLITAPIDEPhase II
Microsomal triglyceride transfer protein inhibitor
familial hyperlipidemia
LOMITAPIDEApproved
Microsomal triglyceride transfer protein inhibitor
cardiovascular disease
LOMITAPIDE MESYLATEApproved
Microsomal triglyceride transfer protein inhibitor
Hypercholesterolemia
SLX-4090Phase II
Microsomal triglyceride transfer protein inhibitor
Related Genes
SEL1LProtein interaction100%OS9Protein interaction100%SYVN1Protein interaction100%FAF2Protein interaction100%VCPProtein interaction99%CALUProtein interaction98%
Tissue Expression6 tissues
Liver
100%
Bone Marrow
39%
Lung
31%
Heart
21%
Ovary
15%
Brain
11%
Gene Interaction Network
Click a node to explore
P4HBSEL1LOS9SYVN1FAF2VCPCALU
PROTEIN STRUCTURE
Preparing viewer…
PDB8GDY · 2.05 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.56Moderately Constrained
pLIⓘ
0.65Intermediate
Observed/Expected LoF0.39 [0.27–0.56]
RankingsWhere P4HB stands among ~20K protein-coding genes
  • #812of 20,598
    Most Researched374 · top 5%
  • #523of 1,025
    FDA-Approved Drug Targets2
  • #3,907of 5,498
    Most Pathogenic Variants3
  • #3,644of 17,882
    Most Constrained (LOEUF)0.56 · top quartile
Genes detectedP4HB
Sources retrieved25 papers
Response time—
📄 Sources
25▼
1
Collagen prolyl 4-hydroxylases modify tumor progression.
PMID: 34009234
Acta Biochim Biophys Sin (Shanghai) · 2021
1.00
2
Comprehensive analysis of bulk and single-cell transcriptomic data reveals a novel signature associated with endoplasmic reticulum stress, lipid metabolism, and liver metastasis in pancreatic cancer.
PMID: 38685045
J Transl Med · 2024
0.90
3
A meta-analysis and bioinformatics analysis of P4HB expression levels in the prognosis of cancer patients.
PMID: 37119730
Pathol Res Pract · 2023
0.80
4
A multichaperone condensate enhances protein folding in the endoplasmic reticulum.
PMID: 40789936
Nat Cell Biol · 2025
0.70
5
Poly(4-Hydroxybutyrate): Current State and Perspectives.
PMID: 32318554
Front Bioeng Biotechnol · 2020
0.68