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].

NameOMIM IDEnsembl IDHGNC IDPHARMGKB IDMap Location
PHD finger protein 8MIM:300560Ensembl:ENSG00000172943HGNC:HGNC:20672PA134889361Xp11.22

GO terms in PHF8


Term TypeEvidence TypeGO Term IDGO Des.
CCICGO:0005634nucleus
CCIDAGO:0005634nucleus
CCTASGO:0005654nucleoplasm
CCIDAGO:0005730nucleolus
CCIDAGO:0031965nuclear membrane
BPIMPGO:0000082G1/S transition of mitotic cell cycle
BPIEAGO:0006351transcription, DNA-templated
BPISSGO:0007420brain development
BPIDAGO:0033169histone H3-K9 demethylation
BPIDAGO:0035574histone H4-K20 demethylation
BPIDAGO:0045893positive regulation of transcription, DNA-templated
BPIMPGO:0045893positive regulation of transcription, DNA-templated
BPIDAGO:0045943positive regulation of transcription by RNA polymerase I
BPIEAGO:0055114oxidation-reduction process
BPIDAGO:0061188negative regulation of chromatin silencing at rDNA
BPIDAGO:0070544histone H3-K36 demethylation
BPIDAGO:0071557histone H3-K27 demethylation
MFIDAGO:0003682chromatin binding
MFIDAGO:0005506iron ion binding
MFIPIGO:0005515protein binding
MFIDAGO:0008270zinc ion binding
MFIDAGO:0016706oxidoreductase 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
MFIDAGO:0032452histone demethylase activity
MFTASGO:0032452histone demethylase activity
MFIDAGO:0032454histone demethylase activity (H3-K9 specific)
MFIDAGO:0035064methylated histone binding
MFIDAGO:0035575histone demethylase activity (H4-K20 specific)
MFIDAGO:0051864histone demethylase activity (H3-K36 specific)
MFIDAGO:0071558histone 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


DatabasePathway IDPathway Des.
wikipathwaysWP2858Ectoderm Differentiation
reactomeR-HSA-1640170Cell Cycle
reactomeR-HSA-2299718Condensation of Prophase Chromosomes
reactomeR-HSA-3214842HDMs demethylate histones
reactomeR-HSA-3247509Chromatin modifying enzymes
reactomeR-HSA-4839726Chromatin organization
reactomeR-HSA-68875Mitotic Prophase
reactomeR-HSA-68886M Phase
reactomeR-HSA-69278Cell Cycle, Mitotic

Gene-Drug: Aster Plot


Drug IDDrug NameModel Num.
iGMDRD399Selumetinib1
iGMDRD353PD03259011

Gene in drug-gene network: Network Plot

Gene-drug targets distribution

Gene Structure: PDB

Models in PHF8

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