Property Summary

NCBI Gene PubMed Count 123
PubMed Score 492.45
PubTator Score 26.33

Knowledge Summary


No data available


  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)

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

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.
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.