Gene: PHF8

Alternate names for this Gene: JHDM1F|KDM7B|MRXSSD|ZNF422

Gene 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.

Gene is located in Chromosome: X

Location in Chromosome : Xp11.22

Description of this Gene: PHD finger protein 8

Type of Gene: protein-coding

rs1557099144 in PHF8 gene and Dysmorphic features PMID 17661819 2007 Screening of mutations in the PHF8 gene and identification of a novel mutation in a Finnish family with XLMR and cleft lip/cleft palate.

PMID 16199551 2005 Mutations in PHF8 are associated with X linked mental retardation and cleft lip/cleft palate.

PMID 18498374 2008 Autism-associated familial microdeletion of Xp11.22.

PMID 25167861 2014 Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing.

PMID 19843542 2010 PHF8, a gene associated with cleft lip/palate and mental retardation, encodes for an Nepsilon-dimethyl lysine demethylase.

PMID 20622853 2010 Histone H4K20/H3K9 demethylase PHF8 regulates zebrafish brain and craniofacial development.

PMID 17594395 2007 A novel mutation in the PHF8 gene is associated with X-linked mental retardation with cleft lip/cleft palate.

rs7065696 in PHF8 gene and Mental disorders PMID 21057379 2011 Case-case genome-wide association analysis shows markers differentially associated with schizophrenia and bipolar disorder and implicates calcium channel genes.

rs1557099144 in PHF8 gene and Multiple congenital anomalies PMID 17661819 2007 Screening of mutations in the PHF8 gene and identification of a novel mutation in a Finnish family with XLMR and cleft lip/cleft palate.

PMID 18498374 2008 Autism-associated familial microdeletion of Xp11.22.

PMID 16199551 2005 Mutations in PHF8 are associated with X linked mental retardation and cleft lip/cleft palate.

PMID 17594395 2007 A novel mutation in the PHF8 gene is associated with X-linked mental retardation with cleft lip/cleft palate.

PMID 19843542 2010 PHF8, a gene associated with cleft lip/palate and mental retardation, encodes for an Nepsilon-dimethyl lysine demethylase.

PMID 20622853 2010 Histone H4K20/H3K9 demethylase PHF8 regulates zebrafish brain and craniofacial development.

PMID 25167861 2014 Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing.

rs1557099144 in PHF8 gene and Muscle hypotonia PMID 17594395 2007 A novel mutation in the PHF8 gene is associated with X-linked mental retardation with cleft lip/cleft palate.

PMID 20622853 2010 Histone H4K20/H3K9 demethylase PHF8 regulates zebrafish brain and craniofacial development.

PMID 25167861 2014 Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing.

PMID 19843542 2010 PHF8, a gene associated with cleft lip/palate and mental retardation, encodes for an Nepsilon-dimethyl lysine demethylase.

PMID 18498374 2008 Autism-associated familial microdeletion of Xp11.22.

PMID 17661819 2007 Screening of mutations in the PHF8 gene and identification of a novel mutation in a Finnish family with XLMR and cleft lip/cleft palate.

PMID 16199551 2005 Mutations in PHF8 are associated with X linked mental retardation and cleft lip/cleft palate.

rs7065696 in PHF8 gene and Psychotic Disorders PMID 21057379 2011 Case-case genome-wide association analysis shows markers differentially associated with schizophrenia and bipolar disorder and implicates calcium channel genes.

rs121918524 in PHF8 gene and Siderius X-linked mental retardation syndrome PMID 16199551 2005 Mutations in PHF8 are associated with X linked mental retardation and cleft lip/cleft palate.

PMID 20101266 2010 Structural insights into a novel histone demethylase PHF8.

PMID 20208542 2010 PHF8 activates transcription of rRNA genes through H3K4me3 binding and H3K9me1/2 demethylation.

PMID 20346720 2010 A functional link between the histone demethylase PHF8 and the transcription factor ZNF711 in X-linked mental retardation.

PMID 20421419 2010 PHF8 targets histone methylation and RNA polymerase II to activate transcription.

PMID 20622853 2010 Histone H4K20/H3K9 demethylase PHF8 regulates zebrafish brain and craniofacial development.

PMID 20622854 2010 PHF8 mediates histone H4 lysine 20 demethylation events involved in cell cycle progression.

PMID 17661819 2007 Screening of mutations in the PHF8 gene and identification of a novel mutation in a Finnish family with XLMR and cleft lip/cleft palate.

PMID 20548336 2010 The X-linked mental retardation gene PHF8 is a histone demethylase involved in neuronal differentiation.

rs148215758 in PHF8 gene and Smoking PMID 26053186 2015 Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.

rs148215758 in PHF8 gene and Smoking Behaviors PMID 26053186 2015 Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.