Property Summary

NCBI Gene PubMed Count 13
Grant Count 4
Funding $575,533
PubMed Score 87.44
PubTator Score 12.32

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (6)

Disease log2 FC p
oligodendroglioma -1.100 0.002
osteosarcoma -2.494 0.004
ependymoma -1.200 0.000
glioblastoma -1.400 0.000
medulloblastoma -1.300 0.000
adult high grade glioma -1.100 0.001

Gene RIF (1)

PMID Text
21453942 2 new Spanish alpha-thalassemia mutations were found. In both mutations, both alpha genes were deleted, the gene theta; and the region HS40.

AA Sequence

MALSAEDRALVRALWKKLGSNVGVYTTEALERTFLAFPATKTYFSHLDLSPGSSQVRAHGQKVADALSLA      1 - 70
VERLDDLPHALSALSHLHACQLRVDPASFQLLGHCLLVTLARHYPGDFSPALQASLDKFLSHVISALVSE     71 - 140
YR                                                                        141 - 142
//

Text Mined References (14)

PMID Year Title
25416956 2014 A proteome-scale map of the human interactome network.
21453942 2011 [Molecular characterization of two new mutations of ?° thalassemia in two Spanish families (mutation --(ED) and --(GP))].
21269460 2011 Initial characterization of the human central proteome.
16728641 2006 A regulatory SNP causes a human genetic disease by creating a new transcriptional promoter.
16138310 2005 Molecular diagnosis of inherited disorders: lessons from hemoglobinopathies.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
11157797 2001 Sequence, structure and pathology of the fully annotated terminal 2 Mb of the short arm of human chromosome 16.
7555018 1995 The multiple functions of hemoglobin.
3422341 1988 Structure and expression of the human theta 1 globin gene.
More...