Property Summary

NCBI Gene PubMed Count 123
PubMed Score 492.45
PubTator Score 26.33

Knowledge Summary

Patent

No data available

TINX Plot

  Disease Sources (5)

Disease Target Count
Chloracne 32
Keloid 34
delta-Thalassemia 1
Disease Target Count P-value
lung adenocarcinoma 2714 6.6143662952735E-12
non-small cell lung cancer 2798 4.83967411697695E-11
ovarian cancer 8492 2.41657524889772E-9
osteosarcoma 7933 1.89751721585324E-5
lung cancer 4473 4.13257446903443E-4
group 3 medulloblastoma 2254 8.33848887268544E-4
pancreatic cancer 2300 0.00134858608016121
pancreatic carcinoma 567 0.00134858608016122
tuberculosis 1563 0.0018024855543994
breast carcinoma 1614 0.00737506099124883
mucosa-associated lymphoid tissue lymphoma 480 0.0139656376784449
Waldenstrons macroglobulinemia 765 0.0178929477340968
acute myeloid leukemia 785 0.0181465229850927
invasive ductal carcinoma 2950 0.0291240175001313
dermatomyositis 967 0.0439117561570094
Disease Target Count Z-score Confidence
Hemolytic anemia 70 0.0 2.0
Malaria 140 0.0 2.0
Disease Target Count
Delta-beta-thalassemia 3

Expression

  Differential Expression (15)

Disease log2 FC p
pancreatic cancer 1.200 0.001
Waldenstrons macroglobulinemia 1.773 0.018
osteosarcoma -7.347 0.000
tuberculosis 3.300 0.002
non-small cell lung cancer -1.118 0.000
lung cancer -1.100 0.000
breast carcinoma -2.500 0.007
group 3 medulloblastoma -1.100 0.001
pancreatic carcinoma 1.200 0.001
lung adenocarcinoma -4.200 0.000
mucosa-associated lymphoid tissue lympho... 2.436 0.014
invasive ductal carcinoma -1.500 0.029
acute myeloid leukemia -2.200 0.018
ovarian cancer -3.100 0.000
dermatomyositis 1.100 0.044

Synonym

Accession P02042 Q3Y5H3 Q8WXT7
Symbols

Gene

HBD

PANTHER Protein Class (1)

PDB

1SHR   1SI4  

  Ortholog (8)

Species Source
Chimp OMA EggNOG Inparanoid
Mouse OMA EggNOG
Rat EggNOG Inparanoid
Horse OMA Inparanoid
Cow OMA EggNOG Inparanoid
Pig OMA Inparanoid
Pig OMA EggNOG
Xenopus OMA Inparanoid

Gene RIF (18)

PMID Text
25217459 Blood donor homozygous for Hb D Los Angeles.
23872310 The expression of the activated delta-globin gene in a beta-thalassemia mice model greatly improves the phenotype, validating the delta-globin chain as a therapeutic target for beta-hemoglobinopathies.
23806011 Data indicate that a delta-globin mutation was suspected in both patients.
23215833 Twenty-one different mutations were detected, and of these 12 have not been previously described.
22641479 A functional promoter polymorphism of the delta-globin gene is a specific marker of the Arab-Indian haplotype
22477537 This report describes a novel missense mutation in delta-globin (HBD: c.323G>A, Gly > Asp) in an Indian family with heterozygous beta-thalassemia with normal HbA(2) levels.
21194254 Family study reporting normal Hemoglobin A expression in a beta-goblin carrier (beta(+) IVSI-5 (G to C) mutation) with microcytosis and hypochromiadue, due to co-inheritance of mutation in the delta-globin gene (delta codon 12 (AAT-->AAA) HbA2-NYU).
19657833 Studies present five new hemoglobin (Hb) variants, Hb Canuts, Hb Ambroise Pare, Hb Beaujolais, Hb Monplaisir and Hb(A2)-North Africa.
19609526 Data report the study of 23 double heterozygotes for beta- and delta-thalassemia defects or variants. Eight delta-globin and seven beta-globin alleles were detected. All the alleles were associated with RFLP haplotype background.
18932068 Hb A2 IVS-I-5 (G > C) beta-thalassemia mutation phenotype in 289 carriers was reported.
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AA Sequence

MVHLTPEEKTAVNALWGKVNVDAVGGEALGRLLVVYPWTQRFFESFGDLSSPDAVMGNPKVKAHGKKVLG      1 - 70
AFSDGLAHLDNLKGTFSQLSELHCDKLHVDPENFRLLGNVLVCVLARNFGKEFTPQMQAAYQKVVAGVAN     71 - 140
ALAHKYH                                                                   141 - 147
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Text Mined References (125)

PMID Year Title
25416956 2014 A proteome-scale map of the human interactome network.
25217459 2014 Blood donor homozygous for Hb D Los Angeles.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
23872310 2014 In vivo activation of the human ?-globin gene: the therapeutic potential in ?-thalassemic mice.
23806011 2013 Two complex associations of an HBD mutation and a rare ? hemoglobinopathy.
23263863 2013 GWAS of blood cell traits identifies novel associated loci and epistatic interactions in Caucasian and African-American children.
23215833 2013 Analysis of ?-globin gene mutations in the Chinese population.
22641479 2012 A functional promoter polymorphism of the ?-globin gene is a specific marker of the Arab-Indian haplotype.
22516433 2012 Proteomic analysis of microvesicles from plasma of healthy donors reveals high individual variability.
22477537 2012 A novel ?-globin gene mutation (HBD: c.323G>A) masking the diagnosis of ?-thalassemia: a first report from India.
More...