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].
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Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
---|---|---|---|---|---|
OMIM IDMIM:300560 Ensembl IDEnsembl:ENSG00000172943 HGNC IDHGNC:HGNC:20672 PHARMGKB IDPA134889361 Map LocationXp11.22 |
GO terms in PHF8
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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 |
Gene expression in normal tissue: PHF8
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in PHF8
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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 |
Gene-Drug: Aster Plot
Gene in drug-gene network: Network Plot

Gene-drug targets distribution
Gene Structure: PDB
Models in PHF8
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Model | Level | Reference ID | Tissue | Cancer | Drug | Clinical Response | Source | |
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No matching records found |