Property Summary

NCBI Gene PubMed Count 17
PubMed Score 6.16
PubTator Score 3.53

Knowledge Summary

Patent

No data available

TINX Plot

  Disease Sources (4)

Disease Target Count P-value
ovarian cancer 8492 2.01606463553243E-11
osteosarcoma 7933 1.02451413192102E-5
atypical teratoid/rhabdoid tumor 1095 1.87074531978541E-5
sonic hedgehog group medulloblastoma 1482 4.77248419331928E-4
Disease Target Count
Potocki-Shaffer syndrome 3

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

Synonym

Accession Q96BD5 D3DQP5 Q6AWA2 Q9C0G7 Q9H8V9 Q9HAK6 Q9NZE9
Symbols BHC80
BM-006

Gene

PDB

2PUY   2YQL  

  Ortholog (12)

Species Source
Chimp OMA EggNOG
Macaque OMA EggNOG Inparanoid
Mouse OMA EggNOG Inparanoid
Rat OMA EggNOG Inparanoid
Dog OMA EggNOG Inparanoid
Horse OMA EggNOG Inparanoid
Cow OMA Inparanoid
Pig OMA EggNOG
Opossum OMA EggNOG
Chicken OMA EggNOG Inparanoid
Anole lizard OMA Inparanoid
Xenopus OMA EggNOG Inparanoid

 GWAS Trait (1)

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.
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