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 categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
14
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (4)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Intellectual disability Likely pathogenic rs2129224282 RCV001526592
PLAG1-related disorder Likely pathogenic rs2487104940 RCV003394422
Silver-Russell syndrome 1 Pathogenic rs1114167318, rs1114167317 RCV000491883
RCV000490859
Silver-russell syndrome 4 Likely pathogenic; Pathogenic rs2129224609, rs1114167318, rs1114167317, rs780434899 RCV002251292
RCV001174522
RCV001174521
RCV004796790
Show/Hide Text Mining Associations (57)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Adenoma Pleomorphic Associate 11555676, 11882654, 15920557, 18604193, 22038920, 22297681, 22485045, 23630011, 24893972, 25439740, 27379604, 28796899, 29135520, 29437290, 32345665
View all (6 more)
Adenoma Pleomorphic Stimulate 14712223
Anemia Associate 38452035
Breast Neoplasms Associate 29273624, 35361013
Carcinogenesis Stimulate 14712223
Carcinogenesis Associate 26787895, 32702887
Carcinoma Associate 36870688
Carcinoma Hepatocellular Associate 25060425
Carcinoma Mucoepidermoid Associate 23018873
Carcinoma Neuroendocrine Inhibit 27034170