PRDM2 Chromosome 1
PR/SET domain 2
Upload your DNA to see your personal genotypes for variants in PRDM2.
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
All Variants (1)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1570018597 | Health Risk | Likely pathogenic | Flexion contracture, Flexion contracture |