PEG3 Chromosome 19

Paternally expressed 3
2 variants 2 Health Risk

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What This Gene Does
In human, ZIM2 and PEG3 are treated as two distinct genes though they share multiple 5' exons and a common promoter and both genes are paternally expressed (PMID:15203203). Alternative splicing events connect their shared 5' exons either with the remaining 4 exons unique to ZIM2, or with the remaining 2 exons unique to PEG3. In contrast, in other mammals ZIM2 does not undergo imprinting and, in mouse, cow, and likely other mammals as well, the ZIM2 and PEG3 genes do not share exons. Human PEG3 protein belongs to the Kruppel C2H2-type zinc finger protein family. PEG3 may play a role in cell proliferation and p53-mediated apoptosis. PEG3 has also shown tumor suppressor activity and tumorigenesis in glioma and ovarian cells. Alternative splicing of this PEG3 gene results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Sep 2009]
Gene Info
Gene Group
"Zinc fingers C2H2-type|SCAN domain containing"
Locus Type
gene with protein product
Location
19q13.43
Ensembl
ENSG00000198300
Key Variants
All Variants (2)
RSID Category Clinical Significance Conditions
RS147772587 Health Risk Conflicting classifications of pathogenicity
RS35355795 Health Risk Conflicting classifications of pathogenicity
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