Property Summary

NCBI Gene PubMed Count 250
Grant Count 338
R01 Count 159
Funding $44,232,668.96
PubMed Score 3707.75
PubTator Score 1137.30

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (3)

Disease log2 FC p
breast carcinoma -2.100 0.020
lung adenocarcinoma -3.500 0.000
facioscapulohumeral dystrophy 2.800 0.000

Synonym

Accession P69905 P01922 Q1HDT5 Q3MIF5 Q53F97 Q96KF1 Q9NYR7 Q9UCM0
Symbols HBH
HBA-T2

Gene

PANTHER Protein Class (1)

PDB

1SHR   1SI4   1Y01   1Z8U   3IA3   3OVU   1A9W   4WJG   4X0L   5HU6   1FDH   4MQJ   4MQK   1A00   1A01   1A0U   1A0Z   1A3N   1A3O   1ABW   1ABY   1AJ9   1B86   1BAB   1BBB   1BIJ   1BUW   1BZ0   1BZ1   1BZZ   1C7B   1C7C   1C7D   1CLS   1CMY   1COH   1DKE   1DXT   1DXU   1DXV   1FN3   1G9V   1GBU   1GBV   1GLI   1GZX   1HAB   1HAC   1HBA   1HBB   1HBS   1HCO   1HDB   1HGA   1HGB   1HGC   1HHO   1IRD   1J3Y   1J3Z   1J40   1J41   1J7S   1J7W   1J7Y   1JY7   1K0Y   1K1K   1KD2   1LFL   1LFQ   1LFT   1LFV   1LFY   1LFZ   1LJW   1M9P   1MKO   1NEJ   1NIH   1NQP   1O1I   1O1J   1O1K   1O1L   1O1M   1O1N   1O1O   1O1P   1QI8   1QSH   1QSI   1QXD   1QXE   1R1X   1R1Y   1RPS   1RQ3   1RQ4   1RQA   1RVW   1SDK   1SDL   1THB   1UIW   1VWT   1XXT   1XY0   1XYE   1XZ2   1XZ4   1XZ5   1XZ7   1XZU   1XZV   1Y09   1Y0A   1Y0C   1Y0D   1Y0T   1Y0W   1Y22   1Y2Z   1Y31   1Y35   1Y45   1Y46   1Y4B   1Y4F   1Y4G   1Y4P   1Y4Q   1Y4R   1Y4V   1Y5F   1Y5J   1Y5K   1Y7C   1Y7D   1Y7G   1Y7Z   1Y83   1Y85   1Y8W   1YDZ   1YE0   1YE1   1YE2   1YEN   1YEO   1YEQ   1YEU   1YEV   1YFF   1YG5   1YGD   1YGF   1YH9   1YHE   1YHR   1YIE   1YIH   1YVQ   1YVT   1YZI   2D5Z   2D60   2DN1   2DN2   2DN3   2DXM   2H35   2HBC   2HBD   2HBE   2HBF   2HBS   2HCO   2HHB   2HHD   2HHE   2M6Z   2W6V   2W72   2YRS   3B75   3D17   3D7O   3DUT   3HHB   3HXN   3IC0   3IC2   3KMF   3NL7   3NMM   3ODQ   3ONZ   3OO4   3OO5   3P5Q   3QJB   3QJC   3QJD   3QJE   3R5I   3S48   3S65   3S66   3SZK   3WCP   3WHM   4FC3   4HHB   4IJ2   4L7Y   4M4A   4M4B   4MQC   4MQG   4MQH   4MQI   4N7N   4N7O   4N7P   4N8T   4NI0   4NI1   4ROL   4ROM   4XS0   5E29   5E6E   5E83   5EE4   5JDO   5KDQ   5SW7   6HBW  

Gene RIF (106)

PMID Text
26930363 Gene frequency for HBA2:c.301-24delGinsCTCGGCCC carriers among the Chinese population in Guangxi.
26683994 Hemoglobin Constant Spring mutation in Southeast Asians with thalassemia.
26329872 Seven novel nondeletional alpha-thalassemia mutations localized on the alpha2-globin gene in the heterozygous state were identified
26252098 Copy number variations in alpha-globin 2 gene is associated with increased levels of HbF with beta thalassemia.
25858298 We report herein for the first time the description of HbA2' in the Tunisian population.
25834820 Two mutations detected the -a(3,7) single gene deletion found in 75% of cases and the nongene deletion a2 IVS1 [-5nt] in the remaining samples
25648458 In maturing RBC progenitors AHSP bind to free alpha-globin chains to increase the HbA production. (Review)
25500521 We postulate that, in view of heterogenisity of the alpha-thalassaemia in this patient with severely unstable haemoglobin Adana chains from her husband, there will be a 25% possibility of fetal hydrops in every pregnancy.
25476779 Described is a previously unreported HBA2 gene variant predicted to lead to an in-frame deletion of codons 13 and 14 of the a-globin chain.
25238043 Data suggest co-inheritance of alpha-globin mutation/alpha-thalassemia alleviates severity of HBE-type beta-thalassemia in population of children/adolescents in Thailand; beta-thalassemia patients who co-inherited alpha-thalassemia had mild disease.
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AA Sequence

MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNA      1 - 70
VAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSK     71 - 140
YR                                                                        141 - 142
//

Text Mined References (344)

PMID Year Title
26930363 2016 Identification of a variation in the IVSII of ?2 gene and its frequency in the population of Guangxi.
26683994 2015 Hemoglobin Constant Spring among Southeast Asian Populations: Haplotypic Heterogeneities and Phylogenetic Analysis.
26329872 2015 Mutations on the ?2-Globin Gene That May Trigger ?(+)-Thalassemia.
26252098 2015 [Analysis of copy number variations in alpha-globin gene in the cases with combined increased levels of HbF with ? thalassemia].
25944712 2015 N-terminome analysis of the human mitochondrial proteome.
25858298 Fortuitous description of haemoglobin A2' [?16 (A13) Gly?Arg (GGC?CGC)] in a Tunisian family: study of the molecular defect and its origin.
25834820 2015 Incidence of alpha-globin gene defect in the Lebanese population: a pilot study.
25648458 2015 Review: Beta-thalassemia and molecular chaperones.
25500521 2014 ?-Thalassemia with Haemoglobin Adana mutation: prenatal diagnosis.
25476779 2015 Hb Souli, a 6 bp in-frame deletion on the HBA2 gene (HBA2: c.[41-46delCCTGGG]) leads to ?-thalassemia intermedia, when in trans to a single ?-globin gene deletion.
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