HomeAboutRankingsData Sources
Β© 2026 GeneE
🧬
GeneE
26 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.
PPIB
peptidylprolyl isomerase B
Chromosome 15 Β· 15q22.31
NCBI Gene: 5479Ensembl: ENSG00000166794.8HGNC: HGNC:9255UniProt: P23284
256PubMed Papers
21Diseases
0Drugs
22Pathogenic Variants
RESEARCH IMPACT
Trending
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
protein foldingregulation of post-translational protein modificationpositive regulation of multicellular organism growthhost-mediated activation of viral processosteogenesis imperfecta type 9osteogenesis imperfectaosteogenesis imperfecta, recessiveosteogenesis imperfecta type 4
✦AI Summary

PPIB encodes peptidylprolyl isomerase B (cyclophilin B), a crucial enzyme with peptidyl-prolyl cis-trans isomerase activity that assists in protein folding through catalyzing cis-trans isomerization of proline residues 1. The protein functions as a collagen chaperone, forming a bifunctional reaction center with P3H1 in the P3H1/CRTAP/PPIB ternary complex essential for collagen posttranslational processing 1. PPIB operates through coupled modification mechanisms and can form dual-ternary complexes, with activity regulated by active site mutations and inhibitors 1. Disease relevance includes significant associations with osteogenesis imperfecta, where disruption of the collagen processing machinery leads to tissue development disorders 1. Additionally, PPIB contributes to pathological processes including renal fibrosis following acute kidney injury 2, serves as a potential biomarker in COPD with upregulated expression correlating with disease progression 3, and promotes tumor progression in lung adenocarcinoma and ovarian cancer through various mechanisms including mRNA stabilization 45. Clinically, PPIB represents a therapeutic target for fibrotic diseases, as demonstrated by sanglifehrin A's antifibrotic effects through cyclophilin B inhibition and secretion induction 6, and shows promise as a biomarker for heterotopic ossification 7.

Sources cited
1
PPIB forms bifunctional reaction center with P3H1 for collagen processing and can form dual-ternary complexes
PMID: 39245686
2
PPIB involvement in autophagy-dependent processes following acute kidney injury
PMID: 35491858
3
PPIB upregulation in COPD and potential as diagnostic biomarker
PMID: 40524719
4
PPIB promotes tumor progression in lung adenocarcinoma
PMID: 38455410
5
PPIB mediates mRNA stabilization in ovarian cancer progression
PMID: 40495222
6
PPIB as collagen chaperone and therapeutic target for fibrotic diseases
PMID: 38900587
7
PPIB as potential biomarker for heterotopic ossification
PMID: 40540299
Disease Associationsβ“˜21
osteogenesis imperfecta type 9Open Targets
0.66Moderate
osteogenesis imperfectaOpen Targets
0.50Moderate
osteogenesis imperfecta, recessiveOpen Targets
0.41Moderate
osteogenesis imperfecta type 4Open Targets
0.38Weak
osteogenesis imperfecta type 3Open Targets
0.38Weak
osteogenesis imperfecta type 2Open Targets
0.38Weak
skeletal dysplasiaOpen Targets
0.37Weak
severe acute respiratory syndromeOpen Targets
0.37Weak
diabetic ketoacidosisOpen Targets
0.27Weak
genetic disorderOpen Targets
0.19Weak
HepatitisOpen Targets
0.09Suggestive
colorectal carcinomaOpen Targets
0.08Suggestive
coronary artery diseaseOpen Targets
0.08Suggestive
chronic obstructive pulmonary diseaseOpen Targets
0.08Suggestive
metabolic syndromeOpen Targets
0.08Suggestive
Mobius syndromeOpen Targets
0.07Suggestive
non-alcoholic steatohepatitisOpen Targets
0.07Suggestive
infectionOpen Targets
0.07Suggestive
hepatocellular carcinomaOpen Targets
0.07Suggestive
neuroinflammatory disorderOpen Targets
0.06Suggestive
Osteogenesis imperfecta 9UniProt
Pathogenic Variants22
NM_000942.5(PPIB):c.344-1G>TPathogenic
not provided|Clear cell carcinoma of kidney
β˜…β˜…β˜†β˜†2025
NM_000942.5(PPIB):c.509G>A (p.Gly170Asp)Pathogenic
not provided|Osteogenesis imperfecta
β˜…β˜…β˜†β˜†2025β†’ Residue 170
NM_000942.5(PPIB):c.313G>A (p.Gly105Arg)Pathogenic
not provided|Osteogenesis imperfecta type 9|Osteogenesis imperfecta
β˜…β˜…β˜†β˜†2025β†’ Residue 105
NM_000942.5(PPIB):c.434_435del (p.Lys145fs)Pathogenic
Osteogenesis imperfecta type 9|not provided
β˜…β˜…β˜†β˜†2023β†’ Residue 145
NM_000942.5(PPIB):c.556_559del (p.Lys186fs)Pathogenic
Osteogenesis imperfecta type 9|not provided|Osteogenesis imperfecta
β˜…β˜…β˜†β˜†2023β†’ Residue 186
NM_000942.5(PPIB):c.358_359dup (p.Glu121fs)Likely pathogenic
Osteogenesis imperfecta type III
β˜…β˜†β˜†β˜†2026β†’ Residue 121
NM_000942.5(PPIB):c.497A>C (p.His166Pro)Likely pathogenic
Osteogenesis imperfecta
β˜…β˜†β˜†β˜†2026β†’ Residue 166
NM_000942.5(PPIB):c.249+1G>ALikely pathogenic
not provided
β˜…β˜†β˜†β˜†2026
NM_000942.5(PPIB):c.439_440del (p.Thr147fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 147
NM_000942.5(PPIB):c.26T>A (p.Met9Lys)Likely pathogenic
Osteogenesis imperfecta
β˜…β˜†β˜†β˜†2024β†’ Residue 9
NM_000942.5(PPIB):c.269del (p.Asn90fs)Likely pathogenic
Osteogenesis imperfecta type 9
β˜…β˜†β˜†β˜†2024β†’ Residue 90
NM_000942.5(PPIB):c.25A>G (p.Met9Val)Likely pathogenic
Osteogenesis imperfecta type 9
β˜…β˜†β˜†β˜†2024β†’ Residue 9
NM_000942.5(PPIB):c.151C>T (p.Arg51Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 51
NM_000942.5(PPIB):c.1A>T (p.Met1Leu)Likely pathogenic
Osteogenesis imperfecta type 9
β˜…β˜†β˜†β˜†2024β†’ Residue 1
NM_000942.5(PPIB):c.528+1G>CLikely pathogenic
Osteogenesis imperfecta
β˜…β˜†β˜†β˜†2022
NM_000942.5(PPIB):c.313G>C (p.Gly105Arg)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2022β†’ Residue 105
NM_000942.5(PPIB):c.243_244delinsC (p.Gly82fs)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2021β†’ Residue 82
NM_000942.5(PPIB):c.414_417dup (p.Met140fs)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2017β†’ Residue 140
NM_000942.5(PPIB):c.343+1G>APathogenic
not provided
β˜…β˜†β˜†β˜†2016
NM_000942.5(PPIB):c.451C>T (p.Gln151Ter)Pathogenic
Osteogenesis imperfecta type 9|not provided
β˜…β˜†β˜†β˜†β†’ Residue 151
View on ClinVar β†—
Related Genes
BSGProtein interaction100%HSP90B1Protein interaction99%CAMLGProtein interaction97%OS9Protein interaction96%CALRProtein interaction94%CANXProtein interaction94%
Tissue Expression6 tissues
Liver
100%
Bone Marrow
68%
Ovary
62%
Lung
60%
Brain
42%
Heart
31%
Gene Interaction Network
Click a node to explore
PPIBBSGHSP90B1CAMLGOS9CALRCANX
PROTEIN STRUCTURE
Preparing viewer…
PDB3ICH Β· 1.20 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
1.10LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.72 [0.48–1.10]
RankingsWhere PPIB stands among ~20K protein-coding genes
  • #1,504of 20,598
    Most Researched256 Β· top 10%
  • #2,092of 5,498
    Most Pathogenic Variants22
  • #11,289of 17,882
    Most Constrained (LOEUF)1.10
Genes detectedPPIB
Sources retrieved26 papers
Response timeβ€”
πŸ“„ Sources
26β–Ό
1
Tubular cells produce FGF2 via autophagy after acute kidney injury leading to fibroblast activation and renal fibrosis.
PMID: 35491858
Autophagy Β· 2023
1.00
2
Rational siRNA design for RNA interference.
PMID: 14758366
Nat Biotechnol Β· 2004
0.90
3
The structural basis for the collagen processing by human P3H1/CRTAP/PPIB ternary complex.
PMID: 39245686
Nat Commun Β· 2024
0.80
4
Hub Genes PRPF19 and PPIB: Molecular Pathways and Potential Biomarkers in COPD.
PMID: 40524719
Int J Chron Obstruct Pulmon Dis Β· 2025
0.70
5
PMID: 34943932
Cells Β· 2021
0.68