PHF8
Summary: The protein encoded by this gene is a histone lysine demethylase that preferentially acts on histones in the monomethyl or dimethyl states. The encoded protein requires Fe(2+) ion, 2-oxoglutarate, and oxygen for its catalytic activity. The protein has an N-terminal PHD finger and a central Jumonji C domain. This gene is thought to function as a transcription activator. Defects in this gene are a cause of syndromic X-linked Siderius type intellectual disability (MRXSSD) and over-expression of this gene is associated with several forms of cancer. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2017].
| Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
| PHD finger protein 8 | MIM:300560 | Ensembl:ENSG00000172943 | HGNC:HGNC:20672 | PA134889361 | Xp11.22 |
GO terms in PHF8
| Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| CC | IC | GO:0005634 | nucleus |
| CC | IDA | GO:0005634 | nucleus |
| CC | TAS | GO:0005654 | nucleoplasm |
| CC | IDA | GO:0005730 | nucleolus |
| CC | IDA | GO:0031965 | nuclear membrane |
| BP | IMP | GO:0000082 | G1/S transition of mitotic cell cycle |
| BP | IEA | GO:0006351 | transcription, DNA-templated |
| BP | ISS | GO:0007420 | brain development |
| BP | IDA | GO:0033169 | histone H3-K9 demethylation |
| BP | IDA | GO:0035574 | histone H4-K20 demethylation |
| BP | IDA | GO:0045893 | positive regulation of transcription, DNA-templated |
| BP | IMP | GO:0045893 | positive regulation of transcription, DNA-templated |
| BP | IDA | GO:0045943 | positive regulation of transcription by RNA polymerase I |
| BP | IEA | GO:0055114 | oxidation-reduction process |
| BP | IDA | GO:0061188 | negative regulation of chromatin silencing at rDNA |
| BP | IDA | GO:0070544 | histone H3-K36 demethylation |
| BP | IDA | GO:0071557 | histone H3-K27 demethylation |
| MF | IDA | GO:0003682 | chromatin binding |
| MF | IDA | GO:0005506 | iron ion binding |
| MF | IPI | GO:0005515 | protein binding |
| MF | IDA | GO:0008270 | zinc ion binding |
| MF | IDA | GO:0016706 | oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors |
| MF | IDA | GO:0032452 | histone demethylase activity |
| MF | TAS | GO:0032452 | histone demethylase activity |
| MF | IDA | GO:0032454 | histone demethylase activity (H3-K9 specific) |
| MF | IDA | GO:0035064 | methylated histone binding |
| MF | IDA | GO:0035575 | histone demethylase activity (H4-K20 specific) |
| MF | IDA | GO:0051864 | histone demethylase activity (H3-K36 specific) |
| MF | IDA | GO:0071558 | histone demethylase activity (H3-K27 specific) |
Gene expression in normal tissue: PHF8
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in PHF8
| Database | Pathway ID | Pathway Des. |
|---|---|---|
| wikipathways | WP2858 | Ectoderm Differentiation |
| reactome | R-HSA-1640170 | Cell Cycle |
| reactome | R-HSA-2299718 | Condensation of Prophase Chromosomes |
| reactome | R-HSA-3214842 | HDMs demethylate histones |
| reactome | R-HSA-3247509 | Chromatin modifying enzymes |
| reactome | R-HSA-4839726 | Chromatin organization |
| reactome | R-HSA-68875 | Mitotic Prophase |
| reactome | R-HSA-68886 | M Phase |
| reactome | R-HSA-69278 | Cell Cycle, Mitotic |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in PHF8
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