PLAG1 (PLAG1 zinc finger)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
5324
Gene name Gene Name - the full gene name approved by the HGNC.
PLAG1 zinc finger
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
PLAG1
Synonyms (NCBI Gene) Gene synonyms aliases
PSA, SGPA, SRS4, ZNF912
Chromosome Chromosome number
8
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
8q12.1
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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.
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 blot, Luciferase reporter assay, Microarray 19692702
MIRT000697 hsa-miR-181b-5p Western blot, Luciferase reporter assay, Microarray 19692702
MIRT000696 hsa-miR-424-5p Western blot, Luciferase reporter assay, Microarray 19692702
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
603026 9045 ENSG00000181690
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID 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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Silver-Russell Syndrome Silver-Russell syndrome 1, Silver-russell syndrome 4 rs1114167318, rs1114167317 N/A
Show/Hide Unknown Diseases (1)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Prostate cancer Prostate cancer N/A N/A GWAS
Show/Hide Text Mining Associations (57)
Associations from Text Mining Disease 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