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Gene: PHF8 (PHD finger protein 8) Homo sapiens
Symbol: PHF8
Name: PHD finger protein 8
Description: 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]
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: DKFZp686E0868; histone lysine demethylase PHF8; JHDM1F; jumonji C domain-containing histone demethylase 1F; KDM7B; KIAA1111; MRXSSD; ZNF422
Mus musculus (house mouse) : Phf8 (PHD finger protein 8)  MGI  Alliance
Rattus norvegicus (Norway rat) : Phf8 (PHD finger protein 8)  Alliance
Chinchilla lanigera (long-tailed chinchilla) : Phf8 (PHD finger protein 8)
Pan paniscus (bonobo/pygmy chimpanzee) : PHF8 (PHD finger protein 8)
Canis lupus familiaris (dog) : PHF8 (PHD finger protein 8)
Ictidomys tridecemlineatus (thirteen-lined ground squirrel) : Phf8 (PHD finger protein 8)
Sus scrofa (pig) : PHF8 (PHD finger protein 8)
more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Human AssemblyChrPosition (strand)SourceGenome Browsers
GRCh38X53,936,680 - 54,048,935 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X53,963,113 - 54,075,368 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36X53,979,838 - 54,087,036 (-)NCBINCBI36hg18NCBI36
Build 34X53,846,135 - 53,953,332NCBI
CeleraX57,794,656 - 57,902,802 (-)NCBI
Cytogenetic MapXp11.22NCBI
HuRefX51,017,153 - 51,124,050 (-)NCBIHuRef
CHM1_1X53,954,083 - 54,062,605 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)

Disease Annotations
Gene-Chemical Interaction Annotations
Gene Ontology Annotations
Molecular Pathway Annotations
Phenotype Annotations
References - curated
References - uncurated


Comparative Map Data
Position Markers
miRNA Target Status


Nucleotide Sequences
Protein Sequences
Clinical Variants

Additional Information

External Database Links
More on PHF8
Alliance Gene
Ensembl Gene
JBrowse: hg19 hg38
HGNC Report
NCBI Genome Data Viewer

CRRD Object Information
CRRD ID: 1347460
Created: 2005-03-08
Species: Homo sapiens
Last Modified: 2019-07-16
Status: ACTIVE


RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.