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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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PSG6
pregnancy specific beta-1-glycoprotein 6
Chromosome 19 · 19q13.31
NCBI Gene: 5675Ensembl: ENSG00000170848.16HGNC: HGNC:9523UniProt: Q00889
18PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Swiss-Prot Reviewed
female pregnancyextracellular regionobesity due to melanocortin 4 receptor deficiencyLIPE-related familial partial lipodystrophyobesity due to leptin receptor gene deficiencyPLIN1-related familial partial lipodystrophy
✦AI Summary

PSG6 (pregnancy-specific beta-1-glycoprotein 6) is a secreted placental protein belonging to the pregnancy-specific glycoprotein family, located in the extracellular region and involved in female pregnancy 1. PSG6 is expressed by trophoblastic cells and detectable in maternal serum from early pregnancy 1. The gene is regulated epigenetically through CTCF-mediated transcriptional control, with expression influenced by histone modifications at its promoter 2. PSG6 expression is transcriptionally regulated and can be stimulated by sodium butyrate, with the promoter region (-809/-44 bp) containing cis-acting regulatory sequences 3. Clinically, PSG6 serves as a potential diagnostic biomarker for placenta accreta spectrum (PAS), with expression progressively decreasing from placenta increta to percreta 1. PSG6 is significantly elevated in gestational diabetes mellitus (GDM) compared to obese controls, linking it to altered glucose metabolism 4. In early pregnancy complications, PSG6 is one of several pregnancy-specific glycoproteins that distinguish ectopic pregnancy from intrauterine pregnancy when used in multivariable biomarker panels 5. Additionally, elevated PSG6 expression is associated with increased mortality in gastric adenocarcinoma patients 6. These findings establish PSG6 as a multi-functional biomarker relevant to both pregnancy complications and cancer prognosis.

Sources cited
1
PSG6 is a secreted placental protein detectable in maternal serum; expression is progressively decreased in placenta accreta spectrum, serving as a potential diagnostic biomarker
PMID: 37831187
2
CTCF regulates PSG6 expression through epigenetic mechanisms involving histone modifications at the PSG6 promoter
PMID: 33452729
3
PSG6 promoter region contains cis-acting regulatory sequences; PSG6 expression is transcriptionally regulated and stimulated by sodium butyrate
PMID: 1318503
4
PSG6 is significantly increased in gestational diabetes mellitus trophoblast compared to obese controls
PMID: 26869332
5
PSG6 is part of pregnancy-specific glycoprotein biomarker panels that distinguish ectopic pregnancy from intrauterine pregnancy
PMID: 37715129
6
High PSG6 expression is associated with increased mortality in gastric adenocarcinoma patients
PMID: 32034058
Disease Associationsⓘ20
obesity due to melanocortin 4 receptor deficiencyOpen Targets
0.06Suggestive
LIPE-related familial partial lipodystrophyOpen Targets
0.04Suggestive
obesity due to leptin receptor gene deficiencyOpen Targets
0.04Suggestive
PLIN1-related familial partial lipodystrophyOpen Targets
0.04Suggestive
AXIN2-related attenuated familial adenomatous polyposisOpen Targets
0.04Suggestive
obesity due to pro-opiomelanocortin deficiencyOpen Targets
0.04Suggestive
obesity due to prohormone convertase I deficiencyOpen Targets
0.04Suggestive
lipodystrophy, congenital generalized, type 5Open Targets
0.04Suggestive
Muir-Torre syndromeOpen Targets
0.04Suggestive
obesity due to congenital leptin deficiencyOpen Targets
0.04Suggestive
short stature due to primary acid-labile subunit deficiencyOpen Targets
0.04Suggestive
AKT2-related familial partial lipodystrophyOpen Targets
0.03Suggestive
Familial partial lipodystrophy due to AKT2 mutationsOpen Targets
0.03Suggestive
familial partial lipodystrophy, Kobberling typeOpen Targets
0.03Suggestive
Familial partial lipodystrophy, Köbberling typeOpen Targets
0.03Suggestive
CIDEC-related familial partial lipodystrophyOpen Targets
0.03Suggestive
MODYOpen Targets
0.03Suggestive
autosomal recessive hyperinsulinism due to Kir6.2 deficiencyOpen Targets
0.03Suggestive
PPARG-related familial partial lipodystrophyOpen Targets
0.03Suggestive
Hirschsprung diseaseOpen Targets
0.03Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
RLN1Shared pathway100%PZPShared pathway100%PSG1Protein interaction86%PSG7Protein interaction85%CSH1Protein interaction78%CSH2Protein interaction78%
Tissue Expression6 tissues
Brain
100%
Lung
20%
Liver
0%
Heart
0%
Bone Marrow
0%
Ovary
0%
Gene Interaction Network
Click a node to explore
PSG6RLN1PZPPSG1PSG7CSH1CSH2
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt Q00889
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.48LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF1.18 [0.94–1.48]
RankingsWhere PSG6 stands among ~20K protein-coding genes
  • #14,784of 20,598
    Most Researched18
  • #15,076of 17,882
    Most Constrained (LOEUF)1.48
Genes detectedPSG6
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Pregnancy-specific beta-1-glycoprotein 6 is a potential novel diagnostic biomarker of placenta accreta spectrum.
PMID: 37831187
Med Mol Morphol · 2024
1.00
2
Gestational diabetic transcriptomic profiling of microdissected human trophoblast.
PMID: 26869332
J Endocrinol · 2016
0.90
3
Integrated characterisation of cancer genes identifies key molecular biomarkers in stomach adenocarcinoma.
PMID: 32034058
J Clin Pathol · 2020
0.80
4
Linkage of two human pregnancy-specific beta 1-glycoprotein genes: one is associated with hydatidiform mole.
PMID: 2377620
Proc Natl Acad Sci U S A · 1990
0.70
5
Identification and verification of plasma protein biomarkers that accurately identify an ectopic pregnancy.
PMID: 37715129
Clin Proteomics · 2023
0.60