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Gene: PHF8 (PHD finger protein 8) Homo sapiens
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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
Orthologs:
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
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
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)
Model


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

Genomics

Comparative Map Data
Position Markers
miRNA Target Status

Sequence

Nucleotide Sequences
Protein Sequences
Promoters
Clinical Variants

Additional Information

External Database Links
 
More on PHF8
Alliance Gene
NCBI 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



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