Property Summary

NCBI Gene PubMed Count 123
PubMed Score 492.45
PubTator Score 26.33

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (15)

Disease log2 FC p
pancreatic cancer 1.200 1.3e-03
Waldenstrons macroglobulinemia 1.773 1.8e-02
osteosarcoma -7.347 1.9e-05
tuberculosis 3.300 1.8e-03
non-small cell lung cancer -1.118 4.8e-11
lung cancer -1.100 4.1e-04
breast carcinoma -2.500 7.4e-03
group 3 medulloblastoma -1.100 8.3e-04
pancreatic carcinoma 1.200 1.3e-03
lung adenocarcinoma -4.200 6.6e-12
mucosa-associated lymphoid tissue lympho... 2.436 1.4e-02
invasive ductal carcinoma -1.500 2.9e-02
acute myeloid leukemia -2.200 1.8e-02
ovarian cancer -3.100 2.4e-09
dermatomyositis 1.100 4.4e-02

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.
18615450 Unusually low levels of HBA2 in a compound heterozygote can be explained from the functional inhibition of the HBD gene, in cis to the HBG1 gene, bearing the nd-HPFH mutation.
18603555 Borderline HbA(2) is not a rare event in a population with a high prevalence of beta-thalassemia carriers
18221842 characterization of the delta-globin gene alleles and of RFLP-haplotypes, SNPs and one microsatellite associated with them in 231 carriers originating principally from East Sicily; Seventeen alleles were identified, of which five were new
15757827 Deletion pf this geneis a common, and possibly the predominant beta-thalassemia mutation of the Austroasiatic Lao Theung population.
15449937 The atomic coordinates of the delta-chain of hemoglobin A2 (R2 state) are used to model the structure of hemoglobin homotetramer delta 4, which occurs in rare hemoglobin H disease.
15234005 alternate mRNA species in adult erythroid cells; mRNA encodes an additional 145 nt in the upstream untranslated region, suggesting an alternative site of transcriptional initiation and transcription through the previously defined promoter
11939506 Hb A2-Monreale [delta146(HC3)His-->Arg]is a novel delta chain variant.
11860449 The 5' breakapoint of the (deltabeta)(0) thalassemia deletion in a compound heterozygote was located in the second intron of the delta globin gene.

AA Sequence

MVHLTPEEKTAVNALWGKVNVDAVGGEALGRLLVVYPWTQRFFESFGDLSSPDAVMGNPKVKAHGKKVLG      1 - 70
AFSDGLAHLDNLKGTFSQLSELHCDKLHVDPENFRLLGNVLVCVLARNFGKEFTPQMQAAYQKVVAGVAN     71 - 140
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.
21269460 2011 Initial characterization of the human central proteome.
21194254 2011 First report on the co-inheritance of beta-globin IVS-I-5 (G-->C) thalassemia with delta globin CD12 {Asn-->Lys (AAT-->AAA)}HbA?-NYU in Iran.
20183929 2010 A genome-wide association identified the common genetic variants influence disease severity in beta0-thalassemia/hemoglobin E.
19657833 2009 Description of two new alpha variants: Hb Canuts [alpha85(F6)Asp-->His (alpha1)] and Hb Ambroise Pare [alpha117(GH5)Phe-->Ile (alpha2)]; two new beta variants: Hb Beaujolais [beta84(EF8)Thr-->Asn] and Hb Monplaisir [beta147 (Tyr-Lys-Leu-Ala-Phe-Phe-Leu-Leu-Ser-Asn-Phe-Tyr-158-COOH)] and one new delta variant: Hb (A2)North Africa [delta59(E3)Lys-->Met].
19609526 2010 HbA2-Partinico or delta(A2)Pro-->Thr, a new genetic variation in the delta-globin gene in cis to the beta(+) thal IVS-I-110 G>A, and the heterogeneity of delta-globin alleles in double heterozygotes for beta- and delta-globin gene defects.
18932068 2008 Hematological phenotype of the IVS-I-5 (G > C) beta-thalassemia mutation and assessment of Iran's national screening criteria.
18615450 2008 Compound heterozygosity of non-deletional hereditary persistence of fetal hemoglobin and deltabeta-thalassemia.
18603555 2008 Significance of borderline hemoglobin A2 values in an Italian population with a high prevalence of beta-thalassemia.
18221842 2008 Molecular evidences of single mutational events followed by recurrent crossing-overs in the common delta-globin alleles in the Mediterranean area.
17207965 2007 hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes.
17145605 2006 Analysis of delta-globin gene alleles in the Sicilian population: identification of five new mutations.
16370491 2005 The IVS-II-1 (G-->a) beta0-thalassemia mutation in cis with HbA2-Troodos [delta116(G18)Arg-->Cys (CGC-->TGC)] causes a complex prenatal diagnosis in an Iranian family.
16370490 2005 Identification of a new delta chain hemoglobin variant in a beta-thalassemia carrier: Hb A2-mumc [delta13(a10)Ala-->Asp].
15921167 2005 Two new delta-globin mutations: Hb A2-Ninive [delta133(H11)Val-Ala] and a delta(+)-thalassemia mutation [-31 (A --> G)] in the TATA box of the delta-globin gene.
15757827 2004 The Southeast Asian 12.5 KB (delta-beta) degrees-deletion: a common beta-thalassemia in Mon-Khmer groups (Lao Theung) of South Laos.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15449937 2004 Crystal structures of HbA2 and HbE and modeling of hemoglobin delta 4: interpretation of the thermal stability and the antisickling effect of HbA2 and identification of the ferrocyanide binding site in Hb.
15234005 2004 Identification of an alternate delta-globin mRNA in adult human erythroid cells.
15108284 2004 Real-time PCR for single-cell genotyping in sickle cell and thalassemia syndromes as a rapid, accurate, reliable, and widely applicable protocol for preimplantation genetic diagnosis.
14478740 1961 Homozygous Lepore haemoglobin disease appearing as thalassaemia major in two Papuan siblings.
14236725 1964 A VARIANT OF HEMOGLOBIN A2 FOUND IN A NEGRO FAMILY.
13968954 1962 The fusion of two peptide chains in hemoglobin Lepore and its interpretation as a genetic deletion.
13892631 1962 Hemoglobin "pylos": study of a hemoglobinopathy resembling thalassemia in the heterozygous, homozygous and double heterozygous state.
12736816 2003 Common 5' beta-globin RFLP haplotypes harbour a surprising level of ancestral sequence mosaicism.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12402333 2002 Epidemiology of the delta globin alleles in southern Italy shows complex molecular, genetic, and phenotypic features.
11939506 2002 Hb A2-Monreale [delta146(HC3)His-->Arg], a novel delta chain variant detected in west Sicily.
11860449 2001 Molecular characterization of (deltabeta)(0)/beta(0)-thalassemia and (deltabeta)(0)-thalassemia/hemoglobin E in Thai patients.
9101295 1997 delta-Thalassemic phenotype due to two "novel" delta-globin gene mutations: CD11[GTC-->GGC (A8)-HbA2-Pylos] and CD 85[TTT-->TCT(F1)-HbA2-Etolia].
8537235 1995 Hb A2-Agrinio [delta 43(CD2)Glu-->Gly(GAG-->GGG)]: a new delta chain variant detected in a Greek family.
8401543 1993 A new delta-chain variant hemoglobin A2-Puglia or alpha 2 delta 2 26 Glu-->Asp (B8), detected by DNA analysis in a family of southern Italian origin.
8364213 1993 Analysis of delta-globin gene mutations in Greek cypriots.
8330984 1993 Hb A2-Grovetown or alpha 2 delta (2)75(E19)Leu-->Val.
8118467 1994 A novel delta O-thalassemia mutation: TGG-->TAG (TRP-->STOP) at codon 37.
7713748 1994 Hb A2-Sant' Antioco [alpha 2 delta (2)93(F9)Cys-->Gly]: a new delta chain variant identified by sequencing of amplified DNA.
7555018 1995 The multiple functions of hemoglobin.
7438204 1980 Complete nucleotide sequence of the human delta-globin gene.
7162987 1982 Duplication followed by deletion accounts for the structure of an Indian deletion beta (0)-thalassemia gene.
7151176 1982 A single-base change at a splice site in a beta 0-thalassemic gene causes abnormal RNA splicing.
7129931 1982 Hb A2-Canada or alpha 2 delta 2 99(G1) Asp replaced by Asn, a newly discovered delta chain variant with increased oxygen affinity occurring in cis to beta-thalassemia.
6985481 1981 Nonsense and frameshift mutations in beta 0-thalassemia detected in cloned beta-globin genes.
6985477 1980 The structure and evolution of the human beta-globin gene family.
6985475 1980 Nonsense mutation as a cause of beta 0 thalassemia.
6895866 1981 Beta + thalassemia: aberrant splicing results from a single point mutation in an intron.
6714226 1984 Molecular characterization of seven beta-thalassemia mutations in Asian Indians.
6701091 1984 Alternative sites of transcription initiation upstream of the canonical cap site in human gamma-globin and beta-globin genes.
6652684 1983 Unexpected relationships between four large deletions in the human beta-globin gene cluster.
6629826 1983 Hb A2-Zagreb or alpha 2 delta 2(125)(H3)Gln replaced by Glu, a new delta chain variant in association with delta beta-thalassemia.
6629825 1983 Hb A2-Manzanares or alpha 2 delta 2 121 (GH4) Glu replaced by Val, an unstable delta chain variant observed in a Spanish family.
6548205 1984 Hemoglobin A2 Fitzroy delta 142 Ala----Asp: a new delta-chain variant.
6469695 1984 HbA2 Victoria delta 24 (B6) Gly----Asp. A new delta chain variant occurring with beta-thalassemia.
6457059 1981 beta zero thalassemia in Sardinia is caused by a nonsense mutation.
6397774 1984 The molecular genetics of human hemoglobin.
6330670 1984 Human fetal globin DNA sequences suggest novel conversion event.
6327288 1984 The beta-globin gene in Sardinian delta beta 0-thalassemia carries a C----T nonsense mutation at codon 39.
6324786 1984 A fusion gene in man: DNA sequence analysis of the abnormal globin gene of hemoglobin Miyada.
6311816 1983 Nucleotide sequence analysis of the delta beta-globin gene region in humans.
6303333 1983 A weak upstream promoter gives rise to long human beta-globin RNA molecules.
6297279 1982 The structure and expression of the haemoglobin genes.
6292840 1982 mRNA-deficient beta o-thalassemia results from a single nucleotide deletion.
6292831 1982 Epsilon globin gene transcripts originating upstream of the mRNA cap site in K562 cells and normal human embryos.
6280057 1982 Linkage of beta-thalassaemia mutations and beta-globin gene polymorphisms with DNA polymorphisms in human beta-globin gene cluster.
6272205 1981 Structure and expression of a cloned beta o thalassaemic globin gene.
6270663 1981 A nucleotide change at a splice junction in the human beta-globin gene is associated with beta 0-thalassemia.
6264391 1981 An intron nucleotide sequence variant in a cloned beta +-thalassaemia globin gene.
6210198 1984 A molecular study of a family with Greek hereditary persistence of fetal hemoglobin and beta-thalassemia.
6194897 1983 Multiple origins of transcription in the 4.5 Kb upstream of the epsilon-globin gene.
6194893 1983 Human beta-globin promoter and coding sequences transcribed by RNA polymerase III.
6184621 1982 The deletion in a type of delta 0-beta 0-thalassaemia begins in an inverted AluI repeat.
6165992 1981 beta-Thalassemia present in cis to a new beta-chain structural variant, Hb Vicksburg [beta 75 (E19)Leu leads to 0].
6155216 1980 Molecular cloning and characterization of the human beta-like globin gene cluster.
6095301 1984 Identification of a retrovirus-like repetitive element in human DNA.
6086605 1984 Base substitution at position -88 in a beta-thalassemic globin gene. Further evidence for the role of distal promoter element ACACCC.
5956309 1966 Haemoglobin A2: alpha-2-delta-2-16 glycine--arginine.
5909792 1966 Hemoglobin Sphakiá: a delta-chain variant of hemoglobin A2 from Crete.
5824070 1969 Hemoglobin NYU, a delta chain variant, alpha 2 delta 2 lys.
5678016 1968 Haemoglobin Babinga (delta 136 glycine-aspartic acid): a new delta chain variant.
4995018 1971 Hemoglobin A2-Indonesia or alpha 2 delta 2 69(E13) Gly--Arg.
4852213 1974 Haemoglobin A2-NYU in the Netherlands. Incidence of delta-chain variants in human populations.
4850239 1974 A new delta chain variant, haemoglobin-A2-Melbourne or alpha2 delta2 43Glu-Lys(CD2).
4625560 1972 Hemoglobin Lepore Washington in two Jamaican families: interaction with beta chain variants.
3879975 1985 The "beta-like-globin" gene domain in human erythroid cells.
3879973 1985 Cryptic branch point activation allows accurate in vitro splicing of human beta-globin intron mutants.
3857622 1985 mRNA precursor splicing in vivo: sequence requirements determined by deletion analysis of an intervening sequence.
3841531 1985 Hb A2 Yokoshima, alpha(2)delta(2)25(B7)Gly----Asp, a new delta chain variant found in a Japanese family.
3620470 1987 The beta-delta crossover leading to the beta delta hybrid gene of hemoglobin P-Nilotic is located within 54 base-pairs of the 5' end of exon 2 or between codons 31 and 50.
3455755 1986 Hemoglobin Long Island is caused by a single mutation (adenine to cytosine) resulting in a failure to cleave amino-terminal methionine.
3401592 1988 Delineation of the molecular basis of delta- and normal HbA2 beta-thalassemia.
3382401 1988 Beta-thalassemia due to a T----A mutation within the ATA box.
3267215 1988 Direct sequencing of enzymatically amplified human genomic DNA.
2933810 1985 The 3' splice site of pre-messenger RNA is recognized by a small nuclear ribonucleoprotein.
2869009 1985 Hemoglobin A2 Honai (alpha 2 delta 2(90)(F6)Glu----Val): a new delta chain variant.
2649166 1989 A review of the molecular genetics of the human alpha-globin gene cluster.
2581851 1985 Cloning specific complete polyadenylylated 3'-terminal cDNA segments.
2578620 1985 A point mutation in the A gamma-globin gene promoter in Greek hereditary persistence of fetal haemoglobin.
2578619 1985 G to A substitution in the distal CCAAT box of the A gamma-globin gene in Greek hereditary persistence of fetal haemoglobin.
2477064 1989 Hb A2-Wrens or alpha 2 delta 2 98(FG5) Val----Met, an unstable delta chain variant identified by sequence analysis of amplified DNA.
2066116 1991 A new delta chain variant hemoglobin A2-Corfu or alpha 2 delta 2 116 Arg----Cys (G18), detected by delta-globin gene analysis in a Greek family.
2018846 1991 Molecular basis of the delta thalassemia in cis to hemoglobin Knossos variant.
1802885 1991 Six rare hemoglobin variants found in Sicily.
1802883 1991 Hb A2-Parkville or delta 47(CD6)Asp----Val, a new delta chain variant.
1787103 1991 Hb A2-Niigata [delta 1(NA1)Val----Ala]: a new delta chain variant found in the Japanese population.
1742490 1991 Identification of four novel delta-globin gene mutations in Greek Cypriots using polymerase chain reaction and automated fluorescence-based DNA sequence analysis.
1515647 1992 Delta-thalassemia caused by disruption of the site for an erythroid-specific transcription factor, GATA-1, in the delta-globin gene promoter.
1398286 Delta + 27 homozygosis in a Sicilian family.
1309671 1992 Delta-thalassemia due to a mutation in an erythroid-specific binding protein sequence 3' to the delta-globin gene.
1301204 1992 A novel delta-thalassemia mutation A G-->C substitution at codon 30 of the delta-globin gene in a person of southern Italian origin.
1257702 1976 An individual with Hb-Lepore-Baltimore- delta beta-thalassaemia in a Yugoslavian family.
1148221 1975 Hemoglobin-A2-Coburg or alpha2delta2116Arg leads to His (G18).
952968 1976 Hemoglobin A2-Roosevelt: alpha 2 delta 2 20Val replaced by Glu.
873928 1977 Human beta-globin messenger RNA. I. Nucleotide sequences derived from complementary RNA.
822353 1976 3' non-coding region sequences in eukaryotic messenger RNA.
728996 1978 The isolation and characterization of linked delta- and beta-globin genes from a cloned library of human DNA.
680638 1978 [Hemoglobin XXIII: note on the sequence of the delta-chains of human hemoglobin (author's transl)].
88735 1979 beta 0 thalassemia, a nonsense mutation in man.