PRDM2 Chromosome 1

PR/SET domain 2
1 variant 1 Health Risk

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What This Gene Does
This tumor suppressor gene is a member of a nuclear histone/protein methyltransferase superfamily. It encodes a zinc finger protein that can bind to retinoblastoma protein, estrogen receptor, and the TPA-responsive element (MTE) of the heme-oxygenase-1 gene. Although the functions of this protein have not been fully characterized, it may (1) play a role in transcriptional regulation during neuronal differentiation and pathogenesis of retinoblastoma, (2) act as a transcriptional activator of the heme-oxygenase-1 gene, and (3) be a specific effector of estrogen action. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2008]
Gene Info
Gene Group
"Zinc fingers C2H2-type|PR/SET domain family|Putative lysine methyltransferases"
Locus Type
gene with protein product
Location
1p36.21
Ensembl
ENSG00000116731
Associated Conditions (1)
Flexion contracture
Key Variants
All Variants (1)
RSID Category Clinical Significance Conditions
RS1570018597 Health Risk Likely pathogenic Flexion contracture, Flexion contracture
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