PHF6 (PHD finger protein 6)

2010-05-01  

Identity

HGNC
LOCATION
Xq26.2
LOCUSID
ALIAS
BFLS,BORJ,CENP-31
FUSION GENES

Other Information

Locus ID:

NCBI: 84295
MIM: 300414
HGNC: 18145
Ensembl: ENSG00000156531

Variants:

dbSNP: 84295
ClinVar: 84295
TCGA: ENSG00000156531
COSMIC: PHF6

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000156531ENST00000332070Q8IWS0
ENSG00000156531ENST00000370799Q5JRC6
ENSG00000156531ENST00000370800Q8IWS0
ENSG00000156531ENST00000370803Q8IWS0
ENSG00000156531ENST00000625464A0A0D9SGE8

Expression (GTEx)

0
5
10
15
20
25
30

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
202288002010PHF6 mutations in T-cell acute lymphoblastic leukemia.104
124152722002Mutations in PHF6 are associated with Börjeson-Forssman-Lehmann syndrome.51
210309812011PHF6 mutations in adult acute myeloid leukemia.43
227207762012PHF6 interacts with the nucleosome remodeling and deacetylation (NuRD) complex.30
232295522013PHF6 regulates cell cycle progression by suppressing ribosomal RNA synthesis.28
218806372011Mutations of PHF6 are associated with mutations of NOTCH1, JAK1 and rearrangement of SET-NUP214 in T-cell acute lymphoblastic leukemia.21
248953372014MicroRNA-128-3p is a novel oncomiR targeting PHF6 in T-cell acute lymphoblastic leukemia.21
147566732004The clinical picture of the Börjeson-Forssman-Lehmann syndrome in males and heterozygous females with PHF6 mutations.20
257372772015A genome-scale in vivo loss-of-function screen identifies Phf6 as a lineage-specific regulator of leukemia cell growth.19
245547002014Structural and functional insights into the human Börjeson-Forssman-Lehmann syndrome-associated protein PHF6.15

Citation

Dessen P

PHF6 (PHD finger protein 6)

Atlas Genet Cytogenet Oncol Haematol. 2010-05-01

Online version: http://atlasgeneticsoncology.org/gene/51483/phf6