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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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PAGR1
PAXIP1 associated glutamate rich protein 1
Chromosome 16 · 16p11.2
NCBI Gene: 79447Ensembl: ENSG00000280789.2HGNC: HGNC:28707UniProt: Q9BTK6
32PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
DNA RepairTranscription Factor
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingnuclear estrogen receptor bindingpositive regulation of intracellular estrogen receptor signaling pathwaypositive regulation of transcription by RNA polymerase IINeurodevelopmental disorderneoplasmhepatocellular carcinomaposterior cortical atrophy
✦AI Summary

PAGR1 (PAXIP1 associated glutamate rich protein 1) functions as a multifaceted chr16 regulatory protein with critical roles in development, gene expression, and genome stability. The protein forms a heterodimeric complex with PAXIP1 that regulates cohesin chr16 association independently of DNA replication, promoting global cohesin occupancy at active gene promoters and enhancers 1. This PAXIP1-PAGR1 complex requires a conserved FDF motif in PAGR1 for cohesin regulation and co-localizes with cohesin across multiple genomic loci 1. PAGR1 functions as a tumor suppressor in lung cancer, forming a STAG2-PAXIP1/PAGR1 axis that suppresses tumorigenesis through effects on gene expression, chr16 accessibility, and 3D genome conformation 2. During embryonic development, PAGR1 is essential for extraembryonic tissue formation, with mouse Pagr1a knockout embryos showing defective amnion and chorion development, reduced BMP2 expression, and developmental arrest at the four- to five-somite stage 3. Biallelic variants in PAGR1 cause a severe neurodevelopmental disorder characterized by microcephaly, developmental delay, and early lethality, with complete knockout being embryonic lethal in mice 4. The gene is also implicated in metabolic regulation and body mass index control 5.

Sources cited
1
PAGR1 forms heterodimeric complex with PAXIP1 that regulates cohesin chromatin association and requires FDF motif
PMID: 37702151
2
PAGR1 functions as tumor suppressor in STAG2-PAXIP1/PAGR1 axis affecting gene expression and chromatin structure
PMID: 39652422
3
Mouse Pagr1a is essential for extraembryonic development and BMP2 expression
PMID: 24633704
4
Biallelic PAGR1 variants cause severe neurodevelopmental disorder with microcephaly
PMID: 34585832
5
PAGR1 is implicated in body mass index regulation through functional screening
PMID: 29608557
Disease Associationsⓘ20
Neurodevelopmental disorderOpen Targets
0.12Weak
neoplasmOpen Targets
0.09Suggestive
hepatocellular carcinomaOpen Targets
0.07Suggestive
posterior cortical atrophyOpen Targets
0.07Suggestive
prostate cancerOpen Targets
0.06Suggestive
infectionOpen Targets
0.06Suggestive
skin basal cell carcinomaOpen Targets
0.06Suggestive
lung cancerOpen Targets
0.04Suggestive
Fabry diseaseOpen Targets
0.04Suggestive
breast cancerOpen Targets
0.04Suggestive
cancerOpen Targets
0.03Suggestive
benign prostatic hyperplasiaOpen Targets
0.03Suggestive
depressive disorderOpen Targets
0.03Suggestive
asthmaOpen Targets
0.03Suggestive
Parkinson diseaseOpen Targets
0.03Suggestive
rheumatic feverOpen Targets
0.02Suggestive
meningiomaOpen Targets
0.02Suggestive
goutOpen Targets
0.02Suggestive
sexually transmitted diseaseOpen Targets
0.02Suggestive
gastric cancerOpen Targets
0.02Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
DPY30Protein interaction100%RBBP5Protein interaction100%KDM6AProtein interaction100%ASH2LProtein interaction100%WDR5Protein interaction100%NCOA6Protein interaction100%
Tissue Expression6 tissues
Ovary
100%
Lung
10%
Liver
10%
Brain
9%
Heart
7%
Bone Marrow
7%
Gene Interaction Network
Click a node to explore
PAGR1DPY30RBBP5KDM6AASH2LWDR5NCOA6
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q9BTK6
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.60LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF1.11 [0.78–1.60]
RankingsWhere PAGR1 stands among ~20K protein-coding genes
  • #11,569of 20,598
    Most Researched32
  • #15,689of 17,882
    Most Constrained (LOEUF)1.60
Genes detectedPAGR1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
A STAG2-PAXIP1/PAGR1 axis suppresses lung tumorigenesis.
PMID: 39652422
J Exp Med · 2025
1.00
2
CRISPR screens in sister chromatid cohesion defective cells reveal PAXIP1-PAGR1 as regulator of chromatin association of cohesin.
PMID: 37702151
Nucleic Acids Res · 2023
0.90
3
Bi-allelic PAGR1 variants are associated with microcephaly and a severe neurodevelopmental disorder: Genetic evidence from two families.
PMID: 34585832
Am J Med Genet A · 2022
0.80
4
A STAG2-PAXIP1/PAGR1 axis suppresses lung tumorigenesis.
PMID: 39345539
bioRxiv · 2024
0.70
5
A rare triplication of 16p11.2: Unravelling the genomic complexity and review of the literature.
PMID: 40180152
Eur J Med Genet · 2025
0.60