Property Summary

NCBI Gene PubMed Count 45
Grant Count 14
R01 Count 6
Funding $539,469.91
PubMed Score 316.16
PubTator Score 49.08

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (12)

Disease log2 FC p
astrocytic glioma -2.200 0.037
psoriasis -2.400 0.000
osteosarcoma -2.274 0.000
posterior fossa group B ependymoma -1.500 0.000
glioblastoma -1.400 0.001
medulloblastoma, large-cell -1.300 0.008
pancreatic ductal adenocarcinoma liver m... -1.795 0.000
lung cancer 1.600 0.004
pediatric high grade glioma -1.100 0.000
group 4 medulloblastoma 1.200 0.025
acute myeloid leukemia -1.100 0.019
ovarian cancer -1.900 0.000

Gene RIF (21)

PMID Text
26740584 we find that the interaction of UPF2 with UPF3b interferes with the assembly of the UPF2-eRF3 complex, and that UPF2 binds UPF3b more strongly than eRF3
26655225 eRF3 neither interacts with the rRNA ribosephosphate backbone nor dissociates from the complex after GTP hydrolysis at translation termination.
25488618 The study compares polymorphism at BCL11A to HBS1L-MYB loci and explains less of the variance in HbF in patients with sickle cell disease in Cameroon.
24667352 Genetic variants of HBS1L is associated with sickle cell disease.
24614105 Several HBS1L-MYB intergenic variants reduce transcription factor binding, affecting interactions with MYB and MYB expression levels. This may explain the genetic association of HBS1L-MYB intergenic polymorphisms with erythroid traits and HbF levels.
23667253 The non-stop decay mechanism exists in mammalian cells and involves Hbs1, Dom34, and the exosome-Ski complex.
22936743 Studies indicate that single nucleotide polymorphisms (SNPs) in regions of BCL11A and HBS1L-MYB intergenic polymorphism are the major modifiers of HbF in African Americans.
21448132 Pelota/Hbs1 induced dissociation of elongation complexes from ribosomes and release of peptidyl-tRNA, but only in the presence of ABCE1.
21385855 A 3-bp deletion in the HBS1L-MYB intergenic region on chromosome 6q23 is associated with HbF expression.
21068433 Observational study of gene-disease association. (HuGE Navigator)
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AA Sequence

MARHRNVRGYNYDEDFEDDDLYGQSVEDDYCISPSTAAQFIYSRRDKPSVEPVEEYDYEDLKESSNSVSN      1 - 70
HQLSGFDQARLYSCLDHMREVLGDAVPDEILIEAVLKNKFDVQKALSGVLEQDRVQSLKDKNEATVSTGK     71 - 140
IAKGKPVDSQTSRSESEIVPKVAKMTVSGKKQTMGFEVPGVSSEENGHSFHTPQKGPPIEDAIASSDVLE    141 - 210
TASKSANPPHTIQASEEQSSTPAPVKKSGKLRQQIDVKAELEKRQGGKQLLNLVVIGHVDAGKSTLMGHM    211 - 280
LYLLGNINKRTMHKYEQESKKAGKASFAYAWVLDETGEERERGVTMDVGMTKFETTTKVITLMDAPGHKD    281 - 350
FIPNMITGAAQADVAVLVVDASRGEFEAGFETGGQTREHGLLVRSLGVTQLAVAVNKMDQVNWQQERFQE    351 - 420
ITGKLGHFLKQAGFKESDVGFIPTSGLSGENLITRSQSSELTKWYKGLCLLEQIDSFKPPQRSIDKPFRL    421 - 490
CVSDVFKDQGSGFCITGKIEAGYIQTGDRLLAMPPNETCTVKGITLHDEPVDWAAAGDHVSLTLVGMDII    491 - 560
KINVGCIFCGPKVPIKACTRFRARILIFNIEIPITKGFPVLLHYQTVSEPAVIKRLISVLNKSTGEVTKK    561 - 630
KPKFLTKGQNALVELQTQRPIALELYKDFKELGRFMLRYGGSTIAAGVVTEIKE                    631 - 684
//

Text Mined References (51)

PMID Year Title
26740584 2016 Human nonsense-mediated mRNA decay factor UPF2 interacts directly with eRF3 and the SURF complex.
26655225 2016 Chemical footprinting reveals conformational changes of 18S and 28S rRNAs at different steps of translation termination on the human ribosome.
25488618 2015 Polymorphism at BCL11A compared to HBS1L-MYB loci explains less of the variance in HbF in patients with sickle cell disease in Cameroon.
25372704 2014 Genome wide association study of fetal hemoglobin in sickle cell anemia in Tanzania.
24667352 2014 Association of variants at BCL11A and HBS1L-MYB with hemoglobin F and hospitalization rates among sickle cell patients in Cameroon.
24647736 2014 Multiple nonglycemic genomic loci are newly associated with blood level of glycated hemoglobin in East Asians.
24614105 2014 HBS1L-MYB intergenic variants modulate fetal hemoglobin via long-range MYB enhancers.
24149102 2013 Variation at 3p24.1 and 6q23.3 influences the risk of Hodgkin's lymphoma.
24097068 2013 Discovery and refinement of loci associated with lipid levels.
24026423 2014 A genome- and phenome-wide association study to identify genetic variants influencing platelet count and volume and their pleiotropic effects.
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