Entrez Gene ID | 7799 |
---|---|
Official Gene Symbol | PRDM2 (GeneCards) |
Full name | PR/SET domain 2 |
Location | 1p36.21 |
Other ids | Vega : OTTHUMG00000007917 MIM : 601196 HGNC : HGNC:9347 Ensembl : ENSG00000116731 |
Other names | RIZ, KMT8, RIZ1, RIZ2, KMT8A, MTB-ZF, HUMHOXY1 |
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. [provided by RefSeq, Oct 2008] |
Found 8 variants in this database.
Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
---|---|---|---|---|---|---|---|
1591 | 7799 | PRDM2 | 1 | 14875504 | 14875504 | Asymptomatic | HiSeq X Ten |
2814 | 7799 | PRDM2 | 1 | 14541188 | 14541188 | Xeroderma Pigmentosum | HiSeq X Ten |
22433 | 7799 | PRDM2 | 1 | 14619306 | 14619306 | Asymptomatic | HiSeq X Ten Single cell Sequencing Cell cloning |
22486 | 7799 | PRDM2 | 1 | 14227380 | 14227380 | Asymptomatic | HiSeq X Ten Single cell Sequencing Cell cloning |
24408 | 7799 | PRDM2 | 1 | 14073710 | 14073710 | Asymptomatic | HiSeq X Ten Single cell Sequencing Cell cloning |
24419 | 7799 | PRDM2 | 1 | 14678974 | 14678974 | Asymptomatic | HiSeq X Ten Single cell Sequencing Cell cloning |
24471 | 7799 | PRDM2 | 1 | 14900848 | 14900848 | Asymptomatic | HiSeq X Ten Single cell Sequencing Cell cloning |
24499 | 7799 | PRDM2 | 1 | 14900848 | 14900848 | Asymptomatic | HiSeq X Ten Single cell Sequencing Cell cloning |