Property Summary

NCBI Gene PubMed Count 123
Grant Count 83
R01 Count 60
Funding $18,019,815.57
PubMed Score 492.45
PubTator Score 26.33

Knowledge Summary


No data available


  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


Accession P02042 Q3Y5H3 Q8WXT7



PANTHER Protein Class (1)


1SHR   1SI4  

Gene RIF (18)

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.

AA Sequence

ALAHKYH                                                                   141 - 147

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.