HomeAboutRankingsData Sources
© 2026 GeneE
🧬
GeneE
10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
ⓘGeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
QSER1
glutamine and serine rich 1
Chromosome 11 · 11p13
NCBI Gene: 79832Ensembl: ENSG00000060749.17HGNC: HGNC:26154UniProt: A0A3B3IRW6
51PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Highly Constrained
DATA QUALITY
✓ Swiss-Prot Reviewed
chromosometype 2 diabetes mellitusuterine fibroidvertebral column disorderprostate carcinoma
✦AI Summary

QSER1 (glutamine and serine rich 1) is an essential epigenetic regulator that protects developmental gene expression through DNA methylation control. Functionally, QSER1 serves as a guardian of bivalent promoters and poised enhancers, particularly those residing in DNA methylation valleys 1. Mechanistically, QSER1 cooperates with TET1 and binds DNA within a common complex to inhibit DNMT3A/3B-mediated de novo methylation 1. This protective function extends to maintaining transcriptional programs essential for early development, with QSER1 identified as a phase-specific factor in pluripotency regulation 2. QSER1 also functions as a developmental regulator through interactions with YAP1/TEAD4 enhancers, where it suppresses RNA Polymerase II recruitment to control lineage genes like NODAL 3. In cancer contexts, QSER1 is frequently upregulated and prevents apoptosis by suppressing pro-apoptotic genes (e.g., PUMA) through cooperation with SIN3A 4, correlating with poor clinical outcomes. Disease relevance is demonstrated by heterozygous QSER1 variants causing neurodevelopmental phenotypes with multisystem anomalies including developmental delay, cardiac defects, and structural eye abnormalities 5. Additionally, QSER1 has been identified as a candidate gene in type 2 diabetes mellitus susceptibility 6, though its specific mechanisms in metabolic disease require further investigation.

Sources cited
1
QSER1 protects bivalent promoters and DNA methylation valleys from de novo methylation through cooperation with TET1
PMID: 33833093
2
QSER1 is identified as a phase-specific regulatory component in pluripotency chromatome reorganization
PMID: 36806742
3
QSER1 cooperates with YAP1:TEAD4 to suppress NODAL and regulate developmental signaling in pluripotent cells
PMID: 40667326
4
QSER1 is upregulated in cancers and prevents apoptosis by suppressing pro-apoptotic genes like PUMA in cooperation with SIN3A
PMID: 36371602
5
Heterozygous QSER1 variants cause neurodevelopmental phenotypes with multisystem anomalies including developmental delay and cardiac defects
PMID: 41139957
6
QSER1 is identified as a candidate gene for type 2 diabetes mellitus susceptibility
PMID: 37169822
Disease Associationsⓘ20
type 2 diabetes mellitusOpen Targets
0.44Moderate
uterine fibroidOpen Targets
0.37Weak
vertebral column disorderOpen Targets
0.31Weak
prostate carcinomaOpen Targets
0.24Weak
tooth diseaseOpen Targets
0.23Weak
major depressive disorderOpen Targets
0.18Weak
atrial fibrillationOpen Targets
0.16Weak
Inguinal herniaOpen Targets
0.16Weak
coronary artery diseaseOpen Targets
0.16Weak
diabetes mellitusOpen Targets
0.12Weak
hepatocellular carcinomaOpen Targets
0.03Suggestive
respiratory tract infectious disorderOpen Targets
0.03Suggestive
placenta praeviaOpen Targets
0.03Suggestive
liver diseaseOpen Targets
0.03Suggestive
skin diseaseOpen Targets
0.02Suggestive
lung adenocarcinomaOpen Targets
0.02Suggestive
oligodendrogliomaOpen Targets
0.01Suggestive
juvenile dermatomyositisOpen Targets
0.01Suggestive
ovarian cancerOpen Targets
0.01Suggestive
cancerOpen Targets
0.01Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
PRRG4Protein interaction78%
Tissue Expression6 tissues
Ovary
100%
Heart
91%
Brain
86%
Bone Marrow
55%
Lung
46%
Liver
42%
Gene Interaction Network
Click a node to explore
QSER1PRRG4
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q2KHR3
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.35Highly Constrained
pLIⓘ
1.00Intolerant
Observed/Expected LoF0.26 [0.20–0.35]
RankingsWhere QSER1 stands among ~20K protein-coding genes
  • #8,719of 20,598
    Most Researched51
  • #1,536of 17,882
    Most Constrained (LOEUF)0.35 · top 10%
Genes detectedQSER1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
QSER1 protects DNA methylation valleys from de novo methylation.
PMID: 33833093
Science · 2021
1.00
2
Bivalent chromatin: a developmental balancing act tipped in cancer.
PMID: 38385532
Biochem Soc Trans · 2024
0.90
3
Splicing and frameshift variants in QSER1 may be involved in developmental phenotypes.
PMID: 41139957
HGG Adv · 2026
0.80
4
YAP1 and QSER1 are Key Modulators of Embryonic Signaling Pathways in the Mammalian Epiblast.
PMID: 40667326
bioRxiv · 2025
0.70
5
QSER1 preserves the suppressive status of the pro-apoptotic genes to prevent apoptosis.
PMID: 36371602
Cell Death Differ · 2023
0.60