Gene: PRDM2

Alternate names for this Gene: HUMHOXY1|KMT8|KMT8A|MTB-ZF|RIZ|RIZ1|RIZ2

Gene Summary: 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.

Gene is located in Chromosome: 1

Location in Chromosome : 1p36.21

Description of this Gene: PR/SET domain 2

Type of Gene: protein-coding

rs2697963 in PRDM2 gene and Age at menarche PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs61775135 in PRDM2 gene and Intracranial Aneurysm PMID 30823506 2019 Genomic Variations in Susceptibility to Intracranial Aneurysm in the Korean Population.