PLAG1 Chromosome 8
PLAG1 zinc finger
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What This Gene Does
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 activated by the reciprocal chromosomal translocations involving 8q12 in a subset of salivary gland pleomorphic adenomas. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Zinc fingers C2H2-type
Locus Type
gene with protein product
Location
8q12.1
Ensembl
ENSG00000181690
Associated Conditions (4)
Intellectual disability
Silver-russell syndrome 4
PLAG1-related disorder
Silver-Russell syndrome 1
Key Variants
RS2129224282
Likely pathogenic
Intellectual disability, Intellectual disability
Health Risk
RS2129224609
Likely pathogenic
Silver-russell syndrome 4, Silver-russell syndrome 4
Health Risk
RS2487104940
Likely pathogenic
PLAG1-related disorder, PLAG1-related disorder
Health Risk
RS780434899
Likely pathogenic
Silver-russell syndrome 4, Silver-russell syndrome 4
Health Risk
RS1114167317
Pathogenic
Silver-Russell syndrome 1, Silver-russell syndrome 4, Silver-Russell syndrome 1
Health Risk
RS1114167318
Pathogenic
Silver-Russell syndrome 1, Silver-russell syndrome 4, Silver-Russell syndrome 1
Health Risk
All Variants (6)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2129224282 | Health Risk | Likely pathogenic | Intellectual disability, Intellectual disability |
| RS2129224609 | Health Risk | Likely pathogenic | Silver-russell syndrome 4, Silver-russell syndrome 4 |
| RS2487104940 | Health Risk | Likely pathogenic | PLAG1-related disorder, PLAG1-related disorder |
| RS780434899 | Health Risk | Likely pathogenic | Silver-russell syndrome 4, Silver-russell syndrome 4 |
| RS1114167317 | Health Risk | Pathogenic | Silver-Russell syndrome 1, Silver-russell syndrome 4, Silver-Russell syndrome 1 |
| RS1114167318 | Health Risk | Pathogenic | Silver-Russell syndrome 1, Silver-russell syndrome 4, Silver-Russell syndrome 1 |