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GeneE
10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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PSG5
pregnancy specific beta-1-glycoprotein 5
Chromosome 19 · 19q13.31
NCBI Gene: 5673Ensembl: ENSG00000204941.14HGNC: HGNC:9522UniProt: Q15238
23PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindinghomophilic cell-cell adhesionheterophilic cell-cell adhesionplasma membraneGriscelli diseaseringed hair diseaseGriscelli syndrome type 3Griscelli disease type 3
✦AI Summary

PSG5 (pregnancy-specific beta-1-glycoprotein 5) is a plasma membrane protein involved in cell-cell adhesion during pregnancy. PSG5 functions as a transcriptional enhancer of important placental genes and is regulated by endogenous retroviruses in human trophoblast 1. Specifically, LTR10A and other primate-specific transposable elements act as transcriptional enhancers of PSG5 expression, contributing to human trophoblast gene regulation and potentially affecting pregnancy outcomes 1. PSG5 demonstrates protein binding capacity and both homophilic and heterophilic cell-cell adhesion activities, consistent with its role in placental development. Beyond pregnancy physiology, PSG5 has emerged as a disease-relevant biomarker in non-pregnancy contexts. In endometrial cancer, PSG5 was identified as one of six overlapping proteins associated with nonendometrioid subtype pathogenesis through multiomics analysis 2. Additionally, PSG5 was incorporated into a six-gene-based risk score model for laryngeal cancer prognosis, where elevated PSG5 expression correlated with poorer overall survival 3. These findings suggest PSG5 has dual significance: as a critical regulator of normal placental development and as a potential prognostic biomarker in human malignancies.

Sources cited
1
PSG5 is transcriptionally enhanced by endogenous retroviruses in human trophoblast, demonstrating regulatory contributions to placental gene expression and pregnancy outcomes
PMID: 37012406
2
PSG5 was identified as an overlapping protein associated with nonendometrioid endometrial cancer subtype in multiomics analysis
PMID: 38775562
3
PSG5 is a component of a six-gene tumor mutational burden-related risk score for laryngeal cancer prognosis, with high expression associated with poorer overall survival
PMID: 36397112
⚠Limited data available — This gene has 3 indexed publications. Summary and analysis may be incomplete.
Disease Associationsⓘ20
Griscelli diseaseOpen Targets
0.08Suggestive
ringed hair diseaseOpen Targets
0.08Suggestive
Griscelli disease type 3Open Targets
0.08Suggestive
Griscelli syndrome type 3Open Targets
0.08Suggestive
hyperinsulinism due to INSR deficiencyOpen Targets
0.07Suggestive
uncombable hair syndromeOpen Targets
0.07Suggestive
posterior cortical atrophyOpen Targets
0.07Suggestive
Microcephaly - albinism - digital anomaliesOpen Targets
0.06Suggestive
microcephaly-albinism-digital anomalies syndromeOpen Targets
0.06Suggestive
hyperinsulinism due to glucokinase deficiencyOpen Targets
0.06Suggestive
hyperproinsulinemiaOpen Targets
0.06Suggestive
pili bifurcatiOpen Targets
0.06Suggestive
exercise-induced hyperinsulinismOpen Targets
0.05Suggestive
oculocutaneous albinism type 3Open Targets
0.05Suggestive
Alopecia-intellectual disability syndromeOpen Targets
0.05Suggestive
alopecia, androgenetic, 1Open Targets
0.05Suggestive
uncombable hair syndrome 3Open Targets
0.05Suggestive
wooly hair, autosomal recessive 3Open Targets
0.05Suggestive
Griscelli disease type 1Open Targets
0.05Suggestive
Griscelli syndrome type 1Open Targets
0.05Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
PSG11Shared pathway100%PSG1Protein interaction78%PSG3Protein interaction78%PSG4Protein interaction78%PSG6Protein interaction78%PSG2Protein interaction77%
Tissue Expression6 tissues
Brain
100%
Liver
4%
Ovary
4%
Lung
0%
Heart
0%
Bone Marrow
0%
Gene Interaction Network
Click a node to explore
PSG5PSG11PSG1PSG3PSG4PSG6PSG2
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q15238
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.75LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF1.40 [1.12–1.75]
RankingsWhere PSG5 stands among ~20K protein-coding genes
  • #13,497of 20,598
    Most Researched23
  • #16,336of 17,882
    Most Constrained (LOEUF)1.75
Genes detectedPSG5
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
The pSG5-based thermosensitive vector family for genome editing and gene expression in actinomycetes.
PMID: 30191290
Appl Microbiol Biotechnol · 2018
1.00
2
Unravelling the molecular landscape of endometrial cancer subtypes: insights from multiomics analysis.
PMID: 38775562
Int J Surg · 2024
0.90
3
Regulation of human trophoblast gene expression by endogenous retroviruses.
PMID: 37012406
Nat Struct Mol Biol · 2023
0.80
4
Molecular characterization of the commonly used human androgen receptor expression vector, pSG5-AR.
PMID: 14968432
Prostate · 2004
0.70
5
[Construction of pSG5/NS5A5BdeltaC and its expression in Huh7 cells].
PMID: 20104685
Xi Bao Yu Fen Zi Mian Yi Xue Za Zhi · 2009
0.60