Aliases for PHF8 Gene
External Ids for PHF8 Gene
Previous GeneCards Identifiers for PHF8 Gene
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. Defects in this gene are a cause of mental retardation syndromic X-linked Siderius type (MRXSSD). Four transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2010]
GeneCards Summary for PHF8 Gene
PHF8 (PHD Finger Protein 8) is a Protein Coding gene. Diseases associated with PHF8 include X-Linked Intellectual Disability, Siderius Type and Cleft Lip +/- Cleft Palate. Among its related pathways are Chromatin organization and Cell Cycle, Mitotic. GO annotations related to this gene include chromatin binding and methylated histone binding. An important paralog of this gene is PHF2.
UniProtKB/Swiss-Prot for PHF8 Gene
Histone lysine demethylase with selectivity for the di- and monomethyl states that plays a key role cell cycle progression, rDNA transcription and brain development. Demethylates mono- and dimethylated histone H3 Lys-9 residue (H3K9Me1 and H3K9Me2), dimethylated H3 Lys-27 (H3K27Me2) and monomethylated histone H4 Lys-20 residue (H4K20Me1). Acts as a transcription activator as H3K9Me1, H3K9Me2, H3K27Me2 and H4K20Me1 are epigenetic repressive marks. Involved in cell cycle progression by being required to control G1-S transition. Acts as a coactivator of rDNA transcription, by activating polymerase I (pol I) mediated transcription of rRNA genes. Required for brain development, probably by regulating expression of neuron-specific genes. Only has activity toward H4K20Me1 when nucleosome is used as a substrate and when not histone octamer is used as substrate. May also have weak activity toward dimethylated H3 Lys-36 (H3K36Me2), however, the relevance of this result remains unsure in vivo. Specifically binds trimethylated Lys-4 of histone H3 (H3K4me3), affecting histone demethylase specificity: has weak activity toward H3K9Me2 in absence of H3K4me3, while it has high activity toward H3K9me2 when binding H3K4me3.