PLAG1 (PLAG1 zinc finger)

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID 5324
Gene name PLAG1 zinc finger
Gene symbol PLAG1
Synonyms (NCBI Gene)
PSASGPASRS4ZNF912
Chromosome 8
Chromosome location 8q12.1
Summary Pleomorphic adenoma gene 1 encodes a zinc finger protein with 2 putative nuclear localization signals. PLAG1, which is developmentally regulated, has been shown to be consistently rearranged in pleomorphic adenomas of the salivary glands. PLAG1 is activat
SNPs SNP information provided by dbSNP.
2
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (2)
SNP ID Visualize variation Clinical significance Consequence
rs1114167317 T>- Pathogenic Frameshift variant, coding sequence variant
rs1114167318 G>- Pathogenic Frameshift variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
810
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (810)
miRTarBase ID miRNA Experiments Reference
MIRT003058 hsa-miR-144-3p Luciferase reporter assay 19347935
MIRT003057 hsa-miR-375 Luciferase reporter assay 19347935
MIRT000698 hsa-miR-181a-5p Western blotLuciferase reporter assayMicroarray 19692702
MIRT000697 hsa-miR-181b-5p Western blotLuciferase reporter assayMicroarray 19692702
MIRT000696 hsa-miR-424-5p Western blotLuciferase reporter assayMicroarray 19692702
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
26
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (26)
GO ID Ontology Definition Evidence Reference
GO:0000977 Function RNA polymerase II transcription regulatory region sequence-specific DNA binding IEA
GO:0000978 Function RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA
GO:0000978 Function RNA polymerase II cis-regulatory region sequence-specific DNA binding IDA 10646861
GO:0000981 Function DNA-binding transcription factor activity, RNA polymerase II-specific IBA
GO:0001228 Function DNA-binding transcription activator activity, RNA polymerase II-specific IDA 10646861
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
603026 9045 ENSG00000181690
Protein Protein information from UniProt database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q6DJT9
Protein name Zinc finger protein PLAG1 (Pleiomorphic adenoma gene 1 protein)
Protein function Transcription factor whose activation results in up-regulation of target genes, such as IGFII, leading to uncontrolled cell proliferation: when overexpressed in cultured cells, higher proliferation rate and transformation are observed. Other tar
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF13912 zf-C2H2_6 33 → 59 Domain
PF00096 zf-C2H2 62 → 86 Zinc finger, C2H2 type Domain
PF00096 zf-C2H2 121 → 143 Zinc finger, C2H2 type Domain
PF13912 zf-C2H2_6 151 → 175 Domain
PF00096 zf-C2H2 213 → 236 Zinc finger, C2H2 type Domain
Tissue specificity TISSUE SPECIFICITY: Expressed in fetal tissues such as lung, liver and kidney. Not detected or weak detection in normal adult tissues, but highly expressed in salivary gland with benign or malignant pleiomorphic adenomas with or without 8q12 aberrations,
Sequence 
MATVIPGDLSEVRDTQKVPSGKRKRGETKPRKNFPCQLCDKAFNSVEKLKVHSYSHTGER
PYKCIQQDCTKAFVSKYKLQRHMATHSPEKTHKCNYCEKMFHRKDHLKNHLHTHDPNKET
FKCEECGKNYNTKLGFKRHLALHAATSGDLTCKVCLQTFESTGVLLEHLKSHAGKSSGGV
KEKKHQCEHCDRRFYTRKDVRRHMVVHTGRKDFLCQYCAQRFGRKDHLTRHMKKSHNQEL
LKVKTEPVDFLDPFTCNVSVPIKDELLPVMSLPSSELLSKPFTNTLQLNLYNTPFQSMQS
SGSAHQMITTLPLGMTCPIDMDTVHPSHHLSFKYPFSSTSYAISIPEKEQPLKGEIESYL
MELQGGVPSSSQDSQASSSSKLGLDPQIGSLDDGAGDLSLSKSSISISDPLNTPALDFSQ
LFNFIPLNGPPYNPLSVGSLGMSYSQEEAHSSVSQLPPQTQDLQDPANTIGLGSLHSLSA
AFTSSLSTSTTLPRFHQAFQ
Sequence length 500
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
13
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Show/Hide Causal Diseases (4)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Intellectual disability Likely pathogenic rs2129224282 RCV001526592
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
PLAG1-related disorder Likely pathogenic rs2487104940 RCV003394422
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Silver-Russell syndrome 1 Pathogenic rs1114167318, rs1114167317 RCV000491883
RCV000490859
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Silver-russell syndrome 4 Likely pathogenic; Pathogenic rs2129224609, rs1114167318, rs1114167317, rs780434899 RCV002251292
RCV001174522
RCV001174521
RCV004796790
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Show/Hide Unknown Diseases (9)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
BENIGN EPITHELIAL TUMOR OF SALIVARY GLANDS — Orphanet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CARCINOMA, BASAL CELL — CTD
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
DESBUQUOIS SYNDROME — CTD
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
PROSTATE CANCER — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (158)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acne Acne BEFREE 28081259
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma BEFREE 12530069, 18491956, 21927843, 2195744, 31013476, 9712452
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of prostate Prostate adenocarcinoma BEFREE 10188912, 10667479, 15350307, 18584300, 23318356, 29416625, 29894516, 30402808, 30789396, 31162264, 31304057
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenoid Cystic Carcinoma Adenocarcinoma BEFREE 23404581
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenoma Adenoma BEFREE 10029085, 10448117, 10646861, 16736500, 29998354
★★★★★
★☆☆☆☆
Found in Text Mining only
Agenesis of corpus callosum Agenesis Of Corpus Callosum BEFREE 23404581
★★★★★
★☆☆☆☆
Found in Text Mining only
Anaplasia Anaplasia BEFREE 10893635
★★★★★
★☆☆☆☆
Found in Text Mining only
Anemia Anemia Pubtator 38452035 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Anxiety Anxiety Disorder BEFREE 28623635
★★★★★
★☆☆☆☆
Found in Text Mining only
Anxiety Disorders Anxiety Disorder BEFREE 17429411, 28623635
★★★★★
★☆☆☆☆
Found in Text Mining only