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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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PCBD2
pterin-4 alpha-carbinolamine dehydratase 2
Chromosome 5 · 5q31.1
NCBI Gene: 84105Ensembl: ENSG00000132570.16HGNC: HGNC:24474UniProt: Q9H0N5
30PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingpositive regulation of DNA-templated transcriptionmitochondrion4-alpha-hydroxytetrahydrobiopterin dehydratase activityAbruptio Placentaepreeclampsiagliomabrain neoplasm
✦AI Summary

PCBD2 (pterin-4 alpha-carbinolamine dehydratase 2) is a bifunctional protein that operates as a transcriptional co-factor and exhibits enzymatic activity in pteridine metabolism. Primarily, PCBD2 regulates hepatocyte nuclear factor 1β (HNF1β)-mediated transcription by directly interacting with this essential transcription factor and modulating its activity on target genes involved in renal ion transport and other developmental processes 1. PCBD2 shuttles between cytoplasm and nucleus, with nuclear localization significantly enhanced in the presence of HNF1β 1. As an enzyme, PCBD2 participates in tetrahydrobiopterin (BH4) recycling, a critical cofactor for multiple cellular processes 2. Clinically, PCBD2 dysfunction is implicated in rectal cancer pathogenesis, where miR-3174-mediated suppression of PCBD2 promotes cancer cell proliferation and inhibits apoptosis 3. Additionally, genetic polymorphisms in PCBD2 associated with impaired BH4 recycling correlate with stress hyperphenylalaninemia and increased mortality risk in cardiac ICU patients 2. PCBD2 also participates in host gene regulation of hepatitis B virus transcription in embryonic contexts 45. Its tissue distribution differs from its homolog PCBD1, being abundant in lung, spleen, and adipose tissue alongside kidney and liver 1.

Sources cited
1
PCBD2 acts as a co-factor for HNF1β, enhancing its transcriptional activity on target genes; shuttles between cytoplasm and nucleus with increased nuclear localization in presence of HNF1β
PMID: 33749890
2
PCBD2 genetic variants affect tetrahydrobiopterin recycling and are associated with stress hyperphenylalaninemia and mortality risk in cardiac ICU patients
PMID: 35916411
3
PCBD2 is a direct target of miR-3174; its suppression promotes rectal cancer cell proliferation and inhibits apoptosis
PMID: 30964167
4
PCBD2 participates in host gene regulation of hepatitis B virus gene transcription in embryos
PMID: 28822827
5
PCBD2 regulates hepatitis B virus gene transcription in sperm and early embryos
PMID: 29111540
Disease Associationsⓘ20
Abruptio PlacentaeOpen Targets
0.27Weak
preeclampsiaOpen Targets
0.26Weak
gliomaOpen Targets
0.04Suggestive
brain neoplasmOpen Targets
0.03Suggestive
prostate cancerOpen Targets
0.02Suggestive
rectum cancerOpen Targets
0.02Suggestive
allergic asthmaOpen Targets
0.01Suggestive
Huntington diseaseOpen Targets
0.01Suggestive
lung adenocarcinomaOpen Targets
0.01Suggestive
neoplasmOpen Targets
0.00Suggestive
ependymomaOpen Targets
0.00Suggestive
spondyloarthropathyOpen Targets
0.00Suggestive
posterior cortical atrophyOpen Targets
0.00Suggestive
psychosisOpen Targets
0.00Suggestive
Respiratory Syncytial Virus InfectionOpen Targets
0.00Suggestive
colonic neoplasmOpen Targets
0.00Suggestive
Mobius syndromeOpen Targets
0.00Suggestive
Parkinson diseaseOpen Targets
0.00Suggestive
cancerOpen Targets
0.00Suggestive
ulcerative colitisOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
TPH1Protein interaction98%PAHProtein interaction96%THProtein interaction96%TPH2Protein interaction96%HNF1AProtein interaction96%DYRK1BProtein interaction96%
Tissue Expression6 tissues
Heart
100%
Liver
58%
Ovary
34%
Bone Marrow
33%
Lung
29%
Brain
22%
Gene Interaction Network
Click a node to explore
PCBD2TPH1PAHTHTPH2HNF1ADYRK1B
PROTEIN STRUCTURE
Preparing viewer…
PDB4C45 · 1.45 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
1.30LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.77 [0.47–1.30]
RankingsWhere PCBD2 stands among ~20K protein-coding genes
  • #11,996of 20,598
    Most Researched30
  • #13,714of 17,882
    Most Constrained (LOEUF)1.30
Genes detectedPCBD2
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Bifunctional protein PCBD2 operates as a co-factor for hepatocyte nuclear factor 1β and modulates gene transcription.
PMID: 33749890
FASEB J · 2021
1.00
2
Host genes regulate transcription of sperm-introduced hepatitis B virus genes in embryo.
PMID: 28822827
Reprod Toxicol · 2017
0.90
3
Chloro-Functionalized Photo-crosslinking BODIPY for Glutathione Sensing and Subcellular Trafficking.
PMID: 29537726
Chembiochem · 2018
0.80
4
Transcription and regulation of hepatitis B virus genes in host sperm cells.
PMID: 29111540
Asian J Androl · 2018
0.70
5
Enhancing biosynthesis and secretion of premembrane and envelope proteins by the chimeric plasmid of dengue virus type 2 and Japanese encephalitis virus.
PMID: 12620809
Virology · 2003
0.60