Property Summary

NCBI Gene PubMed Count 34
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 5.0e-04
juvenile dermatomyositis 1.020 5.1e-12
breast carcinoma 1.500 1.3e-03
sonic hedgehog group medulloblastoma 1.100 1.9e-03

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.
22720776 PHF6 interacts with the nucleosome remodeling and deacetylation complex and is localized primarily in the nucleoplasm and nucleolus.
21880637 in T-cell acute lymphoblastic leukemia, PHF6 mutations are a recurrent genetic abnormality associated with mutations of NOTCH1, JAK1 and rearrangement of SET-NUP214.
21736506 Our data suggest that PHF6 mutation might play a role in tumorigenesis not only of T-cell acute lymphoblatic leukemia, but also acute myelogenous leukemia and hepatocellular carcinoma.
21030981 PHF6 as a tumor suppressor gene mutated in acute myeloid leukemias (AML) and extend the role of this X-linked tumor suppressor gene in the pathogenesis of hematologic tumors.
20806366 Borjeson-Forssman-Lehmann syndrome (BFLS) may represent a cancer predisposition syndrome and that mutations of PHF6 contribute to T-cell acute lymphoblastic leukemia.
20228800 these results identify PHF6 as a new X-linked tumor suppressor in T-ALL and point to a strong genetic interaction between PHF6 loss and aberrant expression of TLX transcription factors in the pathogenesis of this disease.
19264739 we describe a novel mutation that changes a residue within the first plant homeodomain zinc finger motif of PHF6 in a family with classical features of Borjeson-Forssman-Lehmann syndrome
15994862 Success of PHF6 screening in males suspected of having Borjeson-Forssman-Lehmann syndrome is markedly increased if there is a positive family history and/or skewed X-inactivation is found in the mother.
15466013 novel mutation results in exon skipping and mild Borjeson-Forssman-Lehmann syndrome
15241480 By finding a PHF-6 mutation in a family with Borjeson-Forssman-Lehmann syndrome it was speculated that there is a mutational hot spot in the gene.
14756673 A study of 9 families with PHF6 muations revealed that the phenotype is milder and more variable than previously described and evolves with age; seven missense mutations and two truncation mutations were identifed
14714754 "The gene, PHF6, implicated in the Borjeson-Forssman-Lehmann syndrome has recently been identified." p. 1295
14714741 "...mutations within a novel widely expressed zinc-finger gene (PHF6) have been described in nine families with Borjesson-Forssman-Lehmann syndrome..." p. 1208
12415272 A novel, widely expressed zinc-finger (plant homeodomain[PHD]-like finger) gene had 8 different missense and truncation mutations in 7 familial and 2 sporadic cases of BFLS (p. 661).

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.
23186163 2013 Toward a comprehensive characterization of a human cancer cell phosphoproteome.
22928734 2013 Somatic mutations of PHF6 in patients with chronic myeloid leukemia in blast crisis.
22814378 2012 N-terminal acetylome analyses and functional insights of the N-terminal acetyltransferase NatB.
22720776 2012 PHF6 interacts with the nucleosome remodeling and deacetylation (NuRD) complex.
22658674 2012 Insights into RNA biology from an atlas of mammalian mRNA-binding proteins.
21880637 2011 Mutations of PHF6 are associated with mutations of NOTCH1, JAK1 and rearrangement of SET-NUP214 in T-cell acute lymphoblastic leukemia.
21736506 2012 Somatic mutation of PHF6 gene in T-cell acute lymphoblatic leukemia, acute myelogenous leukemia and hepatocellular carcinoma.
21406692 2011 System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation.
21269460 2011 Initial characterization of the human central proteome.
21030981 2011 PHF6 mutations in adult acute myeloid leukemia.
20813266 2010 The protein composition of mitotic chromosomes determined using multiclassifier combinatorial proteomics.
20806366 2010 T-cell acute lymphoblastic leukemia in association with Börjeson-Forssman-Lehmann syndrome due to a mutation in PHF6.
20228800 2010 PHF6 mutations in T-cell acute lymphoblastic leukemia.
20068231 2010 Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.
19690332 2009 Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions.
19413330 2009 Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach.
19264739 2009 Börjeson-Forssman-Lehmann Syndrome due to a novel plant homeodomain zinc finger mutation in the PHF6 gene.
18691976 2008 Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle.
18669648 2008 A quantitative atlas of mitotic phosphorylation.
18029348 2008 Toward a confocal subcellular atlas of the human proteome.
17525332 2007 ATM and ATR substrate analysis reveals extensive protein networks responsive to DNA damage.
17207965 2007 hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes.
17081983 2006 Global, in vivo, and site-specific phosphorylation dynamics in signaling networks.
15994862 2006 Mutation screening in Borjeson-Forssman-Lehmann syndrome: identification of a novel de novo PHF6 mutation in a female patient.
15772651 2005 The DNA sequence of the human X chromosome.
15635413 2005 Nucleolar proteome dynamics.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15466013 2004 A novel PHF6 mutation results in enhanced exon skipping and mild Börjeson-Forssman-Lehmann syndrome.
15241480 2004 1024C> T (R342X) is a recurrent PHF6 mutation also found in the original Börjeson-Forssman-Lehmann syndrome family.
14756673 2004 The clinical picture of the Börjeson-Forssman-Lehmann syndrome in males and heterozygous females with PHF6 mutations.
14714754 2003 Borjeson-Forssman-Lehmann syndrome and multiple pituitary hormone deficiency.
14714741 2003 Borjeson-Forssman-Lehmann syndrome: a novel pituitary phenotype due to mutation in a novel gene.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12676923 2003 Novel PHF6 mutation p.D333del causes Börjeson-Forssman-Lehmann syndrome.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12415272 2002 Mutations in PHF6 are associated with Börjeson-Forssman-Lehmann syndrome.
11347906 2001 Prediction of the coding sequences of unidentified human genes. XX. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro.