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
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
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Gene expression in normal tissue: PHF8

Gene-model tissue-cancer distribution: Bubble Plot

undefinetissue: undefine cancer: undefined model num: 0undefinedtissue: undefined cancer: PANCAN model num: 2

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
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Gene-Drug: Aster Plot


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Drug ID
Drug Name
Model Num.
iGMDRD399 Selumetinib 1
iGMDRD353 PD0325901 1
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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
No matching records found

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