PHF8 (PHD finger protein 8)

2013-06-01  

Identity

HGNC
LOCATION
Xp11.22
LOCUSID
ALIAS
JHDM1F,KDM7B,MRXSSD,ZNF422
FUSION GENES

Other Information

Locus ID:

NCBI: 23133
MIM: 300560
HGNC: 20672
Ensembl: ENSG00000172943

Variants:

dbSNP: 23133
ClinVar: 23133
TCGA: ENSG00000172943
COSMIC: PHF8

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000172943ENST00000322659Q9UPP1
ENSG00000172943ENST00000338154Q9UPP1
ENSG00000172943ENST00000338946Q9UPP1
ENSG00000172943ENST00000357988Q9UPP1
ENSG00000172943ENST00000396282H0Y3N9
ENSG00000172943ENST00000413386H7BZB7
ENSG00000172943ENST00000415025Q5JPR8
ENSG00000172943ENST00000425862B0QZZ3
ENSG00000172943ENST00000433120B0QZZ4
ENSG00000172943ENST00000437224B0QZZ2
ENSG00000172943ENST00000443302H0Y589
ENSG00000172943ENST00000445025B0QZZ4
ENSG00000172943ENST00000448003H0Y7M8
ENSG00000172943ENST00000453905B0QZE1

Expression (GTEx)

0
10
20
30
40
50
60

Pathways

PathwaySourceExternal ID
Cell CycleREACTOMER-HSA-1640170
Cell Cycle, MitoticREACTOMER-HSA-69278
M PhaseREACTOMER-HSA-68886
Mitotic ProphaseREACTOMER-HSA-68875
Condensation of Prophase ChromosomesREACTOMER-HSA-2299718
Chromatin organizationREACTOMER-HSA-4839726
Chromatin modifying enzymesREACTOMER-HSA-3247509
HDMs demethylate histonesREACTOMER-HSA-3214842

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
206228542010PHF8 mediates histone H4 lysine 20 demethylation events involved in cell cycle progression.156
206228532010Histone H4K20/H3K9 demethylase PHF8 regulates zebrafish brain and craniofacial development.117
203467202010A functional link between the histone demethylase PHF8 and the transcription factor ZNF711 in X-linked mental retardation.86
202085422010PHF8 activates transcription of rRNA genes through H3K4me3 binding and H3K9me1/2 demethylation.81
161995512005Mutations in PHF8 are associated with X linked mental retardation and cleft lip/cleft palate.66
198435422010PHF8, a gene associated with cleft lip/palate and mental retardation, encodes for an Nepsilon-dimethyl lysine demethylase.48
198435422010PHF8, a gene associated with cleft lip/palate and mental retardation, encodes for an Nepsilon-dimethyl lysine demethylase.48
271833832016Stabilization of histone demethylase PHF8 by USP7 promotes breast carcinogenesis.45
221207152012Systematic knockdown of epigenetic enzymes identifies a novel histone demethylase PHF8 overexpressed in prostate cancer with an impact on cell proliferation, migration and invasion.40
204214192010PHF8 targets histone methylation and RNA polymerase II to activate transcription.39

Citation

Dessen P

PHF8 (PHD finger protein 8)

Atlas Genet Cytogenet Oncol Haematol. 2013-06-01

Online version: http://atlasgeneticsoncology.org/gene/53358/phf8