Property Summary

NCBI Gene PubMed Count 17
Grant Count 6
R01 Count 6
Funding $732,752
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 0.000
sonic hedgehog group medulloblastoma 1.300 0.000
atypical teratoid/rhabdoid tumor 1.100 0.000
ovarian cancer -1.700 0.000

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.
More...