Property Summary

NCBI Gene PubMed Count 13
PubMed Score 87.44
PubTator Score 12.32

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (2)

Disease Target Count P-value
ependymoma 2514 1.8e-10
glioblastoma 5572 1.4e-05
medulloblastoma 1524 1.4e-05
adult high grade glioma 2148 1.3e-03
oligodendroglioma 2849 2.4e-03
osteosarcoma 7933 3.6e-03
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 2.4e-03
osteosarcoma -2.494 3.6e-03
ependymoma -1.200 1.8e-10
glioblastoma -1.400 1.4e-05
medulloblastoma -1.300 1.4e-05
adult high grade glioma -1.100 1.3e-03

Synonym

Accession P09105 Q13723 Q1W6G5
Symbols HBQ

Gene

PANTHER Protein Class (1)

  Ortholog (1)

Species Source Disease
Mouse OMA EggNOG

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.
3408475 1988 Nucleotide sequence of the human theta 1-globin gene.
2921315 1989 Globin gene expression in erythroid human fetal liver cells.
2649166 1989 A review of the molecular genetics of the human alpha-globin gene cluster.
2569721 1989 Unique sequence organization and erythroid cell-specific nuclear factor-binding of mammalian theta 1 globin promoters.