Property Summary

NCBI Gene PubMed Count 17
PubMed Score 6.16
PubTator Score 3.53

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (4)

Disease log2 FC p
osteosarcoma -1.382 1.0e-05
sonic hedgehog group medulloblastoma 1.300 4.8e-04
atypical teratoid/rhabdoid tumor 1.100 1.9e-05
ovarian cancer -1.700 2.0e-11

Gene RIF (4)

PMID Text
22770980 we have uncovered evidence that the ID and CFA phenotypes are both caused by haploinsufficiency of a single gene, PHF21A, at 11p11.2.
20379614 Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
19439607 the recovery of neurosecretion depends on the reciprocal level of BHC80 and REST, with BHC80 working as a negative modulator of REST repression
15325272 Presumably serves as a scaffold protein in BHC in neuronal as well as non-neuronal cells. Possible role in spermatogenesis.

AA Sequence

MELQTLQEALKVEIQVHQKLVAQMKQDPQNADLKKQLHELQAKITALSEKQKRVVEQLRKNLIVKQEQPD      1 - 70
KFQIQPLPQSENKLQTAQQQPLQQLQQQQQYHHHHAQQSAAASPNLTASQKTVTTASMITTKTLPLVLKA     71 - 140
ATATMPASVVGQRPTIAMVTAINSQKAVLSTDVQNTPVNLQTSSKVTGPGAEAVQIVAKNTVTLVQATPP    141 - 210
QPIKVPQFIPPPRLTPRPNFLPQVRPKPVAQNNIPIAPAPPPMLAAPQLIQRPVMLTKFTPTTLPTSQNS    211 - 280
IHPVRVVNGQTATIAKTFPMAQLTSIVIATPGTRLAGPQTVQLSKPSLEKQTVKSHTETDEKQTESRTIT    281 - 350
PPAAPKPKREENPQKLAFMVSLGLVTHDHLEEIQSKRQERKRRTTANPVYSGAVFEPERKKSAVTYLNST    351 - 420
MHPGTRKRGRPPKYNAVLGFGALTPTSPQSSHPDSPENEKTETTFTFPAPVQPVSLPSPTSTDGDIHEDF    421 - 490
CSVCRKSGQLLMCDTCSRVYHLDCLDPPLKTIPKGMWICPRCQDQMLKKEEAIPWPGTLAIVHSYIAYKA    491 - 560
AKEEEKQKLLKWSSDLKQEREQLEQKVKQLSNSISKCMEMKNTILARQKEMHSSLEKVKQLIRLIHGIDL    561 - 630
SKPVDSEATVGAISNGPDCTPPANAATSTPAPSPSSQSCTANCNQGEETK                        631 - 680
//

Text Mined References (25)

PMID Year Title
25416956 2014 A proteome-scale map of the human interactome network.
25231870 2014 Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche.
25218447 2014 Uncovering global SUMOylation signaling networks in a site-specific manner.
24217620 2013 The histone demethylase LSD1/KDM1A promotes the DNA damage response.
24144296 2013 Nine loci for ocular axial length identified through genome-wide association studies, including shared loci with refractive error.
23186163 2013 Toward a comprehensive characterization of a human cancer cell phosphoproteome.
22770980 2012 Translocations disrupting PHF21A in the Potocki-Shaffer-syndrome region are associated with intellectual disability and craniofacial anomalies.
21406692 2011 System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation.
21102462 2010 Thirty new loci for age at menarche identified by a meta-analysis of genome-wide association studies.
20379614 Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
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.
19439607 2009 The rest repression of the neurosecretory phenotype is negatively modulated by BHC80, a protein of the BRAF/HDAC complex.
19413330 2009 Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach.
18669648 2008 A quantitative atlas of mitotic phosphorylation.
17974005 2007 The full-ORF clone resource of the German cDNA Consortium.
17394647 2007 Gene function in early mouse embryonic stem cell differentiation.
16140033 2005 Regulation of LSD1 histone demethylase activity by its associated factors.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15325272 2004 Characterization of BHC80 in BRAF-HDAC complex, involved in neuron-specific gene repression.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12493763 2003 A candidate X-linked mental retardation gene is a component of a new family of histone deacetylase-containing complexes.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12032298 2002 A core-BRAF35 complex containing histone deacetylase mediates repression of neuronal-specific genes.
11214970 2000 Prediction of the coding sequences of unidentified human genes. XIX. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro.