PRDM8
Summary: This gene encodes a protein that belongs to a conserved family of histone methyltransferases that predominantly act as negative regulators of transcription. The encoded protein contains an N-terminal Su(var)3-9, Enhancer-of-zeste, and Trithorax (SET) domain and a double zinc-finger domain. Knockout of this gene in mouse results in mistargeting by neurons of the dorsal telencephalon, abnormal itch-like behavior, and impaired differentiation of rod bipolar cells. In humans, the protein has been shown to interact with the phosphatase laforin and the ubiquitin ligase malin, which regulate glycogen construction in the cytoplasm. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016].
Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
---|---|---|---|---|---|
PR/SET domain 8 | MIM:616639 | Ensembl:ENSG00000152784 | HGNC:HGNC:13993 | PA33720 | 4q21.21 |
Gene Categories:
METHYL TRANSFERASEGO terms in PRDM8
Term Type | Evidence Type | GO Term ID | GO Des. |
---|---|---|---|
BP | IEA | GO:0006351 | transcription, DNA-templated |
BP | IEA | GO:0006357 | regulation of transcription by RNA polymerase II |
BP | IBA | GO:0014003 | oligodendrocyte development |
BP | IEA | GO:0032259 | methylation |
CC | IDA | GO:0005634 | nucleus |
MF | ISA | GO:0000981 | RNA polymerase II transcription factor activity, sequence-specific DNA binding |
MF | IEA | GO:0003677 | DNA binding |
MF | IPI | GO:0005515 | protein binding |
MF | IEA | GO:0008168 | methyltransferase activity |
MF | IEA | GO:0046872 | metal ion binding |
Gene expression in normal tissue: PRDM8
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in PRDM8
Database | Pathway ID | Pathway Des. |
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Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in PRDM8