Property Summary

NCBI Gene PubMed Count 34
Grant Count 20
R01 Count 14
Funding $1,702,579.65
PubMed Score 66.78
PubTator Score 69.24

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (4)

Disease log2 FC p
osteosarcoma 1.203 0.001
juvenile dermatomyositis 1.020 0.000
breast carcinoma 1.500 0.001
sonic hedgehog group medulloblastoma 1.100 0.002

Gene RIF (24)

PMID Text
25737277 Phf6 is a "lineage-specific" cancer gene that plays opposing roles in developmentally distinct hematopoietic malignancies.
25601084 Our RBBP4-PHF6 complex structure provides insights into the molecular basis of PHF6-NuRD complex interaction and implicates a role for PHF6 in chromatin structure modulation and gene regulation.
25099957 Female phenotypes of Borjeson-Forssman-Lehmann syndrome patients with PHF6 mutations
24895337 The PHF6 tumor suppressor gene was targeted in acute lymphoblastic leukemia by microRNA-128-3p.
24674452 Recurrent microdeletion was detected in Xq26.3, causing loss of PHF6 expression, a potential tumor suppressor gene, and the miR-424, which is involved in the development of acute myeloid leukemia.
24554700 these data support the hypothesis that PHF6 may function as a transcriptional repressor using its ePHD domains binding to the promoter region of its repressed gene
24380767 Our report confirms that PHF6 loss in females results in a recognizable phenotype overlapping with Coffin-Siris syndrome and distinct from Borjeson-Forssman-Lehmann syndrome.
24092917 The findings show that de novo mutations in PHF6 in females result in a recognisable phenotype which overlap with Borjeson-Forssman-Lehmann syndrome but also has additional distinct features, thus adding a new facet to this disorder.
23229552 These results reveal that the key function of PHF6 is involved in regulating rRNA synthesis, which may contribute to its roles in cell cycle control, genomic maintenance, and tumor suppression.
22928734 Data suggest that mutations of PHF6 are associated with chronic myeloid leukemia (CML) progression.
More...

AA Sequence

MSSSVEQKKGPTRQRKCGFCKSNRDKECGQLLISENQKVAAHHKCMLFSSALVSSHSDNESLGGFSIEDV      1 - 70
QKEIKRGTKLMCSLCHCPGATIGCDVKTCHRTYHYHCALHDKAQIREKPSQGIYMVYCRKHKKTAHNSEA     71 - 140
DLEESFNEHELEPSSPKSKKKSRKGRPRKTNFKGLSEDTRSTSSHGTDEMESSSYRDRSPHRSSPSDTRP    141 - 210
KCGFCHVGEEENEARGKLHIFNAKKAAAHYKCMLFSSGTVQLTTTSRAEFGDFDIKTVLQEIKRGKRMKC    211 - 280
TLCSQPGATIGCEIKACVKTYHYHCGVQDKAKYIENMSRGIYKLYCKNHSGNDERDEEDEERESKSRGKV    281 - 350
EIDQQQLTQQQLNGN                                                           351 - 365
//

Text Mined References (47)

PMID Year Title
25737277 2015 A genome-scale in vivo loss-of-function screen identifies Phf6 as a lineage-specific regulator of leukemia cell growth.
25601084 2015 Structural basis of plant homeodomain finger 6 (PHF6) recognition by the retinoblastoma binding protein 4 (RBBP4) component of the nucleosome remodeling and deacetylase (NuRD) complex.
25218447 2014 Uncovering global SUMOylation signaling networks in a site-specific manner.
25099957 2014 Females with de novo aberrations in PHF6: clinical overlap of Borjeson-Forssman-Lehmann with Coffin-Siris syndrome.
24895337 2014 MicroRNA-128-3p is a novel oncomiR targeting PHF6 in T-cell acute lymphoblastic leukemia.
24674452 2014 Detection of an activated JAK3 variant and a Xq26.3 microdeletion causing loss of PHF6 and miR-424 expression in myelodysplastic syndromes by combined targeted next generation sequencing and SNP array analysis.
24554700 2014 Structural and functional insights into the human Börjeson-Forssman-Lehmann syndrome-associated protein PHF6.
24380767 2014 Distinct phenotype of PHF6 deletions in females.
24092917 2013 A new face of Borjeson-Forssman-Lehmann syndrome? De novo mutations in PHF6 in seven females with a distinct phenotype.
23229552 2013 PHF6 regulates cell cycle progression by suppressing ribosomal RNA synthesis.
More...