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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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PLAG1
PLAG1 zinc finger
Chromosome 8 · 8q12.1
NCBI Gene: 5324Ensembl: ENSG00000181690.9HGNC: HGNC:9045UniProt: Q6DJT9
105PubMed Papers
21Diseases
0Drugs
11Pathogenic Variants
FUNCTIONAL ROLE
OncogeneTranscription Factor
CLINICAL
OMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
DNA-binding transcription activator activity, RNA polymerase II-specificnucleoplasmnuclear speckRNA polymerase II cis-regulatory region sequence-specific DNA bindingsilver-russell syndrome 4Silver-Russell syndromeAbnormality of the skeletal systemneurodegenerative disease
✦AI Summary

PLAG1 is a zinc finger transcription factor that acts as a proto-oncogene by activating target genes including IGFII, CRLF1, CRABP2, CRIP2, and PIGF, driving uncontrolled cell proliferation 1. The gene encodes a DNA-binding transcription activator specific to RNA polymerase II that functions in the nucleus and nucleoplasm. PLAG1 is primarily associated with salivary gland neoplasms, where gene fusions—particularly PLAG1-HMGA2 fusions—are specific for benign pleomorphic adenomas 12. PLAG1 rearrangements also characterize myoepithelial carcinoma, the most common genetic alteration in this malignancy 3. Beyond salivary glands, PLAG1 overexpression drives hepatoblastoma development and is associated with upregulation of IGFII in hepatocellular carcinoma (HCC) 4. In HCC, PLAG1 regulates ferroptosis resistance by transcriptionally controlling GPX4 expression through a PVT1/miR-195-5p regulatory axis, conferring sorafenib resistance 4. In lung cancer, PLAG1 promotes anoikis resistance and metastasis in LKB1-deficient tumors by upregulating glutamate dehydrogenase 1 (GDH1), which activates pro-survival CamKK2-AMPK signaling 5. Monogenic PLAG1 pathogenic variants are rarer causes of Silver-Russell syndrome, distinct from the more common imprinting defects 6.

Sources cited
1
PLAG1 gene fusions are specific for benign pleomorphic adenomas of salivary glands and PLAG1 is used diagnostically via immunohistochemistry
PMID: 37074867
2
PLAG1 fusions are a major driver of pleomorphic adenoma, with multiple fusion partners identified
PMID: 34324456
3
PLAG1 fusion is the most common genetic alteration in myoepithelial carcinoma
PMID: 33526224
4
PLAG1 upregulates GPX4 transcriptionally to confer ferroptosis resistance and sorafenib resistance in HCC through PVT1/miR-195-5p regulation
PMID: 38745179
5
PLAG1 upregulates GDH1 to promote anoikis resistance and metastasis in LKB1-deficient lung cancer via CamKK2-AMPK signaling
PMID: 29249655
6
PLAG1 pathogenic variants are rarer monogenic causes of Silver-Russell syndrome
PMID: 38888172
Disease Associationsⓘ21
silver-russell syndrome 4Open Targets
0.70Moderate
Silver-Russell syndromeOpen Targets
0.62Moderate
Abnormality of the skeletal systemOpen Targets
0.49Moderate
neurodegenerative diseaseOpen Targets
0.46Moderate
lipoblastomaOpen Targets
0.38Weak
Salivary Gland Pleomorphic AdenomaOpen Targets
0.37Weak
breast ductal adenocarcinomaOpen Targets
0.37Weak
esophageal adenocarcinomaOpen Targets
0.37Weak
carcinoma of liver and intrahepatic biliary tractOpen Targets
0.37Weak
Endometrial Endometrioid AdenocarcinomaOpen Targets
0.37Weak
Ovarian Endometrioid Adenocarcinoma with Squamous DifferentiationOpen Targets
0.37Weak
Parotid Gland Pleomorphic AdenomaOpen Targets
0.37Weak
salivary gland adenoid cystic carcinomaOpen Targets
0.37Weak
Salivary Gland Carcinoma ex Pleomorphic AdenomaOpen Targets
0.37Weak
Silver-Russell syndrome due to a point mutationOpen Targets
0.37Weak
syndromic X-linked intellectual disability Snyder typeOpen Targets
0.37Weak
genetic disorderOpen Targets
0.34Weak
hepatocellular carcinomaOpen Targets
0.30Weak
cutaneous melanomaOpen Targets
0.30Weak
acute myeloid leukemiaOpen Targets
0.29Weak
Silver-Russell syndrome 4UniProt
Pathogenic Variants11
NM_002655.3(PLAG1):c.589C>T (p.Arg197Ter)Likely pathogenic
not provided|Silver-russell syndrome 4
★★☆☆2022→ Residue 197
NM_002655.3(PLAG1):c.478del (p.Glu160fs)Likely pathogenic
Russell-Silver syndrome
★☆☆☆2024→ Residue 160
NM_002655.3(PLAG1):c.645T>A (p.Cys215Ter)Likely pathogenic
Inborn genetic diseases
★☆☆☆2024→ Residue 215
NM_002655.3(PLAG1):c.688C>T (p.Arg230Ter)Likely pathogenic
Silver-russell syndrome 4
★☆☆☆2024→ Residue 230
NM_002655.3(PLAG1):c.670C>T (p.Arg224Ter)Likely pathogenic
not provided
★☆☆☆2024→ Residue 224
NM_002655.3(PLAG1):c.199C>T (p.Gln67Ter)Likely pathogenic
Silver-russell syndrome 4
★☆☆☆2023→ Residue 67
NM_002655.3(PLAG1):c.1075dup (p.Tyr359fs)Likely pathogenic
PLAG1-related disorder
★☆☆☆2022→ Residue 359
NM_002655.3(PLAG1):c.441_489del (p.Ser147fs)Likely pathogenic
Silver-russell syndrome 4
★☆☆☆2022→ Residue 147
NM_002655.3(PLAG1):c.1190_1197del (p.Asp397fs)Likely pathogenic
Intellectual disability
★☆☆☆→ Residue 397
NM_002655.3(PLAG1):c.1363del (p.Gln455fs)Pathogenic
Silver-Russell syndrome 1|Silver-russell syndrome 4
☆☆☆☆2020→ Residue 455
NM_002655.3(PLAG1):c.439del (p.Ser147fs)Pathogenic
Silver-Russell syndrome 1|Silver-russell syndrome 4
☆☆☆☆2020→ Residue 147
View on ClinVar ↗
Related Genes
CHCHD7Protein interaction95%HMGA2Protein interaction82%CTNNB1Protein interaction80%TCEA2Protein interaction77%TCEA1Protein interaction77%TCEA3Protein interaction77%
Tissue Expression6 tissues
Heart
100%
Ovary
63%
Bone Marrow
36%
Lung
34%
Brain
12%
Liver
8%
Gene Interaction Network
Click a node to explore
PLAG1CHCHD7HMGA2CTNNB1TCEA2TCEA1TCEA3
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q6DJT9
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.37Moderately Constrained
pLIⓘ
1.00Intolerant
Observed/Expected LoF0.19 [0.10–0.37]
RankingsWhere PLAG1 stands among ~20K protein-coding genes
  • #4,552of 20,598
    Most Researched105 · top quartile
  • #2,752of 5,498
    Most Pathogenic Variants11
  • #1,750of 17,882
    Most Constrained (LOEUF)0.37 · top 10%
Genes detectedPLAG1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Updated Salivary Gland Immunohistochemistry: A Review.
PMID: 37074867
Arch Pathol Lab Med · 2023
1.00
2
Pleomorphic adenoma: the great mimicker of malignancy.
PMID: 33368685
Histopathology · 2021
0.90
3
Approach to the Patient With Suspected Silver-Russell Syndrome.
PMID: 38888172
J Clin Endocrinol Metab · 2024
0.80
4
PMID: 20301499
0.70
5
PLAG1 interacts with GPX4 to conquer vulnerability to sorafenib induced ferroptosis through a PVT1/miR-195-5p axis-dependent manner in hepatocellular carcinoma.
PMID: 38745179
J Exp Clin Cancer Res · 2024
0.60