PHF8, Official Symbol PHF8provided by HGNC Official Full Name PHD finger protein 8provided by HGNC Primary source HGNC:HGNC:20672 See related Ensembl:ENSG00000172943 MIM:300560; AllianceGenome:HGNC:20672 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as KDM7B; JHDM1F; MRXSSD; ZNF422 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] Expression Broad expression in testis (RPKM 19.3), ovary (RPKM 6.7) and 25 other tissues See more Orthologs mouse all