Property Summary

NCBI Gene PubMed Count 13
PubMed Score 87.44
PubTator Score 12.32

Knowledge Summary

Patent

No data available

TINX Plot

  Disease Sources (2)

Disease Target Count P-value
ependymoma 2514 1.77446544559416E-10
glioblastoma 5572 1.37087502657535E-5
medulloblastoma 1524 1.41924590486382E-5
adult high grade glioma 2148 0.00134998909656056
oligodendroglioma 2849 0.00237277444630582
osteosarcoma 7933 0.0036419410298329
Disease Target Count Z-score Confidence
Thalassemia 46 5.851 2.9
Anemia 252 4.456 2.2

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

Synonym

Accession P09105 Q13723 Q1W6G5
Symbols HBQ

Gene

PANTHER Protein Class (1)

  Ortholog (3)

Species Source
Mouse OMA EggNOG
Mouse OMA Inparanoid
Cow OMA EggNOG Inparanoid

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.
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