Property Summary

NCBI Gene PubMed Count 668
Grant Count 418
R01 Count 185
Funding $86,493,855.47
PubMed Score 3463.00
PubTator Score 1063.71

Knowledge Summary

Patent

No data available

TINX Plot

  Disease Relevance (92)

Disease Z-score Confidence
Thalassemia 46 8.547 4.0
Anemia 252 6.47 3.2
Sickle cell anemia 35 6.301 3.2
Siderosis 9 5.359 2.7
Hemosiderosis 4 5.006 2.5
Acute chest syndrome 9 4.754 2.4
Splenic sequestration 5 3.945 2.0
Hemochromatosis 55 3.884 1.9
Splenic infarction 6 3.804 1.9
Hypoparathyroidism 29 3.737 1.9
Hypersplenism 9 3.687 1.8
Hypogonadism 70 3.608 1.8
Vascular disease 281 3.589 1.8
Angioid streaks 5 3.495 1.7
Glucosephosphate dehydrogenase deficienc... 15  3.467 1.7
Malaria 140 3.352 1.7
Osteoporosis 257 3.341 1.7
Heart disease 279 3.332 1.7
Hypothyroidism 89 3.217 1.6
Liver disease 219 3.137 1.6
diabetes mellitus 1,663 3.053 1.5
Klinefelter's syndrome 59 3.042 1.5
Anemia, Hemolytic 12
Anemia, Sickle Cell 10
Atopic dermatitis 944
Beta Thalassemia, Dominant Inclusion Bod... 1 
Beta thalassemia 19 5.0
Beta thalassemia intermedia 1
Breast cancer 3,094
Chloracne 32
Congenital dyserythropoietic anemia 17 4.0
Congenital hemolytic anemia 30 4.0
Cyanosis 4
Delta-Beta Thalassemia 2
Duchenne muscular dystrophy 602
Echinococcosis 28
Erythrocytosis 2
FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCU... 3 
Heinz Body Anemias 2
Hemoglobin C disease 2
Hemoglobin D disease 1
Hemoglobin E disease 2
Hemoglobin E/beta thalassemia disease 1
Hemoglobin SC Disease 1
Hemoglobin SD disease 1
Hemoglobinopathies 1
Hemolytic anemia 66 2.0
MALARIA, RESISTANCE TO 3
Malaria, Falciparum 3
Methemoglobinemia 17
Polycythemia 19
Polycythemia Vera 24
Sickle cell-Hemoglobin O Arab disease 1
Sickle cell-beta-thalassemia 1
Sickle cell-beta^+^-thalassemia 1
Sickle cell-hemoglobin E disease 1
Thalassemia Intermedia 1
Waldenstrons macroglobulinemia 765
acute myeloid leukemia 780
acute quadriplegic myopathy 1,157
alpha-Thalassemia 2
atypical teratoid/rhabdoid tumor 1,095
beta thalassemia major anemia 1
beta^0^ Thalassemia 1
breast carcinoma 1,614
chronic lymphosyte leukemia 232
colon cancer 1,475
ductal carcinoma in situ 1,745
ependymoma 2,514
gastric carcinoma 832
head and neck cancer 270
hepatocellular carcinoma 532
intraductal papillary-mucinous adenoma (... 2,956 
intraductal papillary-mucinous carcinoma... 2,988 
intraductal papillary-mucinous neoplasm ... 3,289 
invasive ductal carcinoma 2,950
juvenile dermatomyositis 1,189
limb girdle muscular dystrophy 2B 74
lung adenocarcinoma 2,713
lung cancer 4,466
lung carcinoma 2,844
medulloblastoma, large-cell 6,234
mucosa-associated lymphoid tissue lympho... 480 
non-small cell lung cancer 2,798
ovarian cancer 8,484
pancreatic cancer 2,300
pancreatic carcinoma 567
pediatric high grade glioma 2,712
periodontitis 269
primary pancreatic ductal adenocarcinoma 1,271
sonic hedgehog group medulloblastoma 1,482
tuberculosis 1,557

Expression

Gene

HBB

PANTHER Protein Class (1)

PDB

3W4U   4WJG   4X0L   5HU6   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   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   1CBL   1CBM   1CH4  

MLP Assay (6)

AID Type Active / Inconclusive / Inactive Description
910 confirmatory 15 / 24 / 2346 Confirmation and Secondary Assay for Modulators of Hemoglobin Beta Chain Splicing at IVS2 654 locus
925 confirmatory 41 / 226 / 64810 qHTS Assay for Modulators of Hemoglobin Beta Chain Splicing
930 confirmatory 11 / 15 / 2359 Confirmation and Secondary Assay for Modulators of Hemoglobin Beta Chain Splicing at IVS2 705 locus
931 confirmatory 9 / 4 / 9 Confirmation and Secondary Assay for Modulators of Hemoglobin Beta Chain Splicing at IVS2 654 locus: Cytotoxicity
1405 confirmatory 8 / 32 / 64 Confirmation and Secondary Assays for Modulators of Hemoglobin Beta Chain Splicing at IVS2 654 and 705 loci
493171 summary 0 / 0 / 0 qHTS Assays for Modulators of Hemoglobin Beta Chain Splicing: Summary

Gene RIF (472)

PMID Text
26840243 results suggest that KLF1 directly regulates the beta-globin gene, but probably has less direct impact on expression of the gamma-globin gene in fetal erythroblasts
26754300 This study reports a Chinese family in whom the codon 35 (A > G) (HBB: c.107A > G) mutation of the beta-globin gene was not associated with the thalassemic phenotype previously described.
26554738 Presented is a novel beta-thalassemia (beta-thal) mutation in a Chinese family. This mutation is located at -27 of the TATA box in the promoter of the HBB gene (HBB: c.-77A > G) and is associated with a phenotype of beta(+)-thalassemia (beta(+)-thal).
26524961 Individuals with the HBB: c.*233G > C variant did not demonstrate any abnormalities in hematological parameters characteristic of beta-thal carrier state (17 heterozygotes) or clinical evidence of disease (homozygote).
26445879 This study supports the hypothesis that Haemoglobin S confers resistance to hyperparasitaemia in patients exhibiting severe malaria syndromes.
26375765 These discoveries have suggested novel rational approaches for the beta-hemoglobin disorders including therapeutic genome editing
26372288 The profile of beta-thal mutations found in northern Brazil is different from those described in other regions of the country.
26292035 Prevalence of hemoglobin E in Yunnan Province of Southwest China has been described.
26214904 Beta-globin mutation IVS1-5 (G > C) in the compound with a mutation IVS1-110 (G > A), or mutation IVS1-6 (T > C) determine the development of beta-thalassemia intermedia.
26182728 XmnI polymorphism is an important genotypic factor in Pakistani population for making a prospective diagnosis of thalassemia intermedia and predicting the severity of the disease.
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AA Sequence

MVHLTPEEKSAVTALWGKVNVDEVGGEALGRLLVVYPWTQRFFESFGDLSTPDAVMGNPKVKAHGKKVLG      1 - 70
AFSDGLAHLDNLKGTFATLSELHCDKLHVDPENFRLLGNVLVCVLAHHFGKEFTPPVQAAYQKVVAGVAN     71 - 140
ALAHKYH                                                                   141 - 147
//

Text Mined References (695)

PMID Year Title
26840243 2016 Krüppel-Like Transcription Factor KLF1 Is Required for Optimal ?- and ?-Globin Expression in Human Fetal Erythroblasts.
26754300 2016 The Codon 35 (A?>?G) (HBB: c.107A?>?G) at the ?-? Chain Interface of the ?-Globin Gene: A Silent Mutation?
26554738 2016 First Detection of the -27 (A?>?G) (HBB: c.-77A?>?G) Mutation of the ?-Globin Gene in a Chinese Family.
26524961 2016 Characterization of the HBB: c.*233G?>?C Variant: No Evidence of a ?-Thalassemic Phenotype.
26445879 2015 Quantitative trait locus analysis of parasite density reveals that HbS gene carriage protects severe malaria patients against Plasmodium falciparum hyperparasitaemia.
26375765 2015 Hemoglobin switching's surprise: the versatile transcription factor BCL11A is a master repressor of fetal hemoglobin.
26372288 2016 The Spectrum of ?-Thalassemia Mutations in a Population from the Brazilian Amazon.
26292035 2016 Prevalence of hemoglobin E in Yunnan Province of Southwest China.
26214904 [IDENTIFICATION OF MUTATION IVS1-5(G > C) OF THE ?-HEMOGLOBIN GENE (Hb?) BY RDBH-METHOD IN PATIENTS WITH ?-THALASSEMIA IN AZERBAIJAN].
26182728 XmnI POLYMORPHISM AND DISEASE SEVERITY IN PATIENTS WITH BETA THALASSEMIA FROM NORTHERN PAKISTAN.
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