Details for: HBD

Gene ID: 3045

Symbol: HBD

Ensembl ID: ENSG00000223609

Description: hemoglobin subunit delta

Associated with

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: basophilic erythroblast (CL0000549)
    Fold Change: 161.6798
    Cell Significance Index: 73.6300
  • Cell Name: embryonic stem cell (CL0002322)
    Fold Change: 5.7653
    Cell Significance Index: -2.3800
  • Cell Name: suprabasal keratinocyte (CL4033013)
    Fold Change: 1.5703
    Cell Significance Index: 25.2500
  • Cell Name: megakaryocyte progenitor cell (CL0000553)
    Fold Change: 0.9877
    Cell Significance Index: 7.1000
  • Cell Name: liver dendritic cell (CL2000055)
    Fold Change: 0.6899
    Cell Significance Index: 1.8200
  • Cell Name: mononuclear cell (CL0000842)
    Fold Change: 0.5670
    Cell Significance Index: 2.3600
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 0.5220
    Cell Significance Index: -2.0600
  • Cell Name: inflammatory macrophage (CL0000863)
    Fold Change: 0.3722
    Cell Significance Index: 2.8600
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 0.3548
    Cell Significance Index: -0.0900
  • Cell Name: hepatoblast (CL0005026)
    Fold Change: 0.1403
    Cell Significance Index: 2.3600
  • Cell Name: basal cell of epidermis (CL0002187)
    Fold Change: 0.1100
    Cell Significance Index: 1.6700
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: 0.0925
    Cell Significance Index: 2.4800
  • Cell Name: peg cell (CL4033014)
    Fold Change: 0.0667
    Cell Significance Index: 1.5400
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.0146
    Cell Significance Index: 2.8900
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 0.0135
    Cell Significance Index: 1.3800
  • Cell Name: fallopian tube secretory epithelial cell (CL4030006)
    Fold Change: 0.0097
    Cell Significance Index: 0.1500
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0003
    Cell Significance Index: -0.2500
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0005
    Cell Significance Index: -0.2700
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: -0.0008
    Cell Significance Index: -1.5700
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: -0.0015
    Cell Significance Index: -2.8000
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: -0.0019
    Cell Significance Index: -2.9500
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.0024
    Cell Significance Index: -0.2700
  • Cell Name: fibro/adipogenic progenitor cell (CL0009099)
    Fold Change: -0.0032
    Cell Significance Index: -0.1600
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0034
    Cell Significance Index: -2.5900
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0039
    Cell Significance Index: -2.4700
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0048
    Cell Significance Index: -2.1800
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: -0.0055
    Cell Significance Index: -0.1500
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0064
    Cell Significance Index: -1.8400
  • Cell Name: neuron associated cell (CL0000095)
    Fold Change: -0.0065
    Cell Significance Index: -0.2700
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: -0.0070
    Cell Significance Index: -2.5100
  • Cell Name: hematopoietic cell (CL0000988)
    Fold Change: -0.0075
    Cell Significance Index: -0.1100
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: -0.0095
    Cell Significance Index: -1.7200
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: -0.0110
    Cell Significance Index: -2.2000
  • Cell Name: L4 intratelencephalic projecting glutamatergic neuron (CL4030063)
    Fold Change: -0.0113
    Cell Significance Index: -0.1200
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: -0.0139
    Cell Significance Index: -0.2900
  • Cell Name: obsolete epithelial cell of alveolus of lung (CL0010003)
    Fold Change: -0.0146
    Cell Significance Index: -0.3600
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: -0.0152
    Cell Significance Index: -2.0900
  • Cell Name: squamous epithelial cell (CL0000076)
    Fold Change: -0.0156
    Cell Significance Index: -0.1900
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: -0.0159
    Cell Significance Index: -1.0000
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: -0.0165
    Cell Significance Index: -2.0300
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.0170
    Cell Significance Index: -2.4700
  • Cell Name: choroid plexus epithelial cell (CL0000706)
    Fold Change: -0.0192
    Cell Significance Index: -0.2300
  • Cell Name: deuterosomal cell (CL4033044)
    Fold Change: -0.0222
    Cell Significance Index: -0.1700
  • Cell Name: proerythroblast (CL0000547)
    Fold Change: -0.0230
    Cell Significance Index: -0.3300
  • Cell Name: CD4-positive, alpha-beta thymocyte (CL0000810)
    Fold Change: -0.0238
    Cell Significance Index: -0.4100
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: -0.0243
    Cell Significance Index: -1.8700
  • Cell Name: centrilobular region hepatocyte (CL0019029)
    Fold Change: -0.0255
    Cell Significance Index: -0.4300
  • Cell Name: endothelial cell of venule (CL1000414)
    Fold Change: -0.0257
    Cell Significance Index: -0.2900
  • Cell Name: periportal region hepatocyte (CL0019026)
    Fold Change: -0.0264
    Cell Significance Index: -0.3900
  • Cell Name: cytotoxic T cell (CL0000910)
    Fold Change: -0.0281
    Cell Significance Index: -0.4100
  • Cell Name: pro-T cell (CL0000827)
    Fold Change: -0.0284
    Cell Significance Index: -0.7300
  • Cell Name: keratocyte (CL0002363)
    Fold Change: -0.0284
    Cell Significance Index: -0.4500
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.0302
    Cell Significance Index: -0.9900
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: -0.0311
    Cell Significance Index: -1.9100
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: -0.0311
    Cell Significance Index: -1.4500
  • Cell Name: late promyelocyte (CL0002151)
    Fold Change: -0.0339
    Cell Significance Index: -0.2300
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -0.0340
    Cell Significance Index: -1.1900
  • Cell Name: early T lineage precursor (CL0002425)
    Fold Change: -0.0344
    Cell Significance Index: -0.5000
  • Cell Name: CD8-positive, alpha-beta thymocyte (CL0000811)
    Fold Change: -0.0357
    Cell Significance Index: -0.3300
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.0385
    Cell Significance Index: -2.1600
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.0399
    Cell Significance Index: -2.6800
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: -0.0416
    Cell Significance Index: -2.1600
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -0.0418
    Cell Significance Index: -1.8500
  • Cell Name: secretory cell (CL0000151)
    Fold Change: -0.0418
    Cell Significance Index: -0.2900
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: -0.0432
    Cell Significance Index: -2.7900
  • Cell Name: eukaryotic cell (CL0000255)
    Fold Change: -0.0443
    Cell Significance Index: -1.9300
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: -0.0467
    Cell Significance Index: -1.7700
  • Cell Name: stratified epithelial cell (CL0000079)
    Fold Change: -0.0473
    Cell Significance Index: -1.7400
  • Cell Name: skeletal muscle myoblast (CL0000515)
    Fold Change: -0.0488
    Cell Significance Index: -0.5300
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: -0.0494
    Cell Significance Index: -1.4600
  • Cell Name: erythrocyte (CL0000232)
    Fold Change: -0.0498
    Cell Significance Index: -1.2700
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.0512
    Cell Significance Index: -2.4100
  • Cell Name: epithelial cell of urethra (CL1000296)
    Fold Change: -0.0513
    Cell Significance Index: -0.3200
  • Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
    Fold Change: -0.0515
    Cell Significance Index: -1.2900
  • Cell Name: lymphoid lineage restricted progenitor cell (CL0000838)
    Fold Change: -0.0568
    Cell Significance Index: -0.7200
  • Cell Name: syncytiotrophoblast cell (CL0000525)
    Fold Change: -0.0569
    Cell Significance Index: -0.5400
  • Cell Name: uterine smooth muscle cell (CL0002601)
    Fold Change: -0.0575
    Cell Significance Index: -0.5500
  • Cell Name: endothelial cell of hepatic sinusoid (CL1000398)
    Fold Change: -0.0584
    Cell Significance Index: -0.5600
  • Cell Name: melanocyte (CL0000148)
    Fold Change: -0.0651
    Cell Significance Index: -0.6100
  • Cell Name: CD14-low, CD16-positive monocyte (CL0002396)
    Fold Change: -0.0652
    Cell Significance Index: -1.5800
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.0653
    Cell Significance Index: -2.0800
  • Cell Name: myeloid lineage restricted progenitor cell (CL0000839)
    Fold Change: -0.0680
    Cell Significance Index: -0.9600
  • Cell Name: megakaryocyte (CL0000556)
    Fold Change: -0.0732
    Cell Significance Index: -1.1900
  • Cell Name: immature innate lymphoid cell (CL0001082)
    Fold Change: -0.0768
    Cell Significance Index: -0.9500
  • Cell Name: primitive red blood cell (CL0002355)
    Fold Change: -0.0777
    Cell Significance Index: -0.8800
  • Cell Name: keratinocyte (CL0000312)
    Fold Change: -0.0825
    Cell Significance Index: -2.0600
  • Cell Name: erythroid lineage cell (CL0000764)
    Fold Change: -0.0834
    Cell Significance Index: -0.9200
  • Cell Name: peridermal cell (CL0000078)
    Fold Change: -0.0850
    Cell Significance Index: -0.5300
  • Cell Name: erythroid progenitor cell (CL0000038)
    Fold Change: -0.0856
    Cell Significance Index: -1.1200
  • Cell Name: muscle fibroblast (CL1001609)
    Fold Change: -0.0865
    Cell Significance Index: -0.5300
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: -0.0878
    Cell Significance Index: -2.3100
  • Cell Name: type I muscle cell (CL0002211)
    Fold Change: -0.0881
    Cell Significance Index: -2.1500
  • Cell Name: preadipocyte (CL0002334)
    Fold Change: -0.0886
    Cell Significance Index: -1.7300
  • Cell Name: chondroblast (CL0000058)
    Fold Change: -0.0886
    Cell Significance Index: -0.5200
  • Cell Name: megakaryocyte-erythroid progenitor cell (CL0000050)
    Fold Change: -0.0890
    Cell Significance Index: -1.2200
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: -0.0891
    Cell Significance Index: -2.3800
  • Cell Name: cortical interneuron (CL0008031)
    Fold Change: -0.0913
    Cell Significance Index: -2.1900
  • Cell Name: hippocampal pyramidal neuron (CL1001571)
    Fold Change: -0.0939
    Cell Significance Index: -2.6800
  • Cell Name: early promyelocyte (CL0002154)
    Fold Change: -0.0940
    Cell Significance Index: -0.6000
  • Cell Name: melanocyte of skin (CL1000458)
    Fold Change: -0.0949
    Cell Significance Index: -1.3300

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics** Hemoglobin subunit delta (HBD) is a small, alpha-like globin protein that is encoded by the HBD gene. It is structurally similar to other globin subunits, such as alpha and beta, and shares similar functional properties. HBD is a dimeric protein, composed of two identical subunits, each with a molecular weight of approximately 14 kDa. It is highly soluble in water and has a high affinity for oxygen, which allows it to bind and transport oxygen effectively. **Pathways and Functions** The HBD protein is involved in several critical biological pathways, including: 1. **Oxygen Transport**: HBD plays a crucial role in transporting oxygen from the lungs to the body's tissues, where it is essential for energy production and cellular metabolism. 2. **Carbon Dioxide Transport**: HBD also helps to transport carbon dioxide from the tissues back to the lungs, where it is exhaled. 3. **Heme Binding**: HBD has a high affinity for heme, a non-heme iron-containing cofactor that is essential for various cellular processes, including electron transport and antioxidant defense. 4. **Antioxidant Defense**: HBD has peroxidase activity, which allows it to neutralize reactive oxygen species (ROS) and maintain cellular redox balance. 5. **Cellular Oxidant Detoxification**: HBD helps to detoxify hydrogen peroxide and other ROS, which can damage cellular components and lead to oxidative stress. **Clinical Significance** Dysregulation of the HBD gene has been implicated in several diseases, including: 1. **Anemia**: Mutations in the HBD gene have been associated with various forms of anemia, including beta-thalassemia and hemoglobinopathy. 2. **Cancer**: HBD has been shown to play a role in cancer cell growth, invasion, and metastasis, suggesting that it may be a potential therapeutic target. 3. **Cardiovascular Disorders**: HBD has been implicated in cardiovascular disease, including hypertension, atherosclerosis, and cardiac dysfunction. 4. **Neurological Disorders**: HBD has been shown to play a role in neurological disorders, including Alzheimer's disease, Parkinson's disease, and stroke. In conclusion, the HBD gene plays a critical role in maintaining oxygen homeostasis and has been implicated in various diseases. Further research is needed to fully understand the functional significance of HBD and to explore its potential as a therapeutic target for diseases.

Genular Protein ID: 679129080

Symbol: HBD_HUMAN

Name: Hemoglobin subunit delta

UniProtKB Accession Codes:

Database IDs:

Citations:

PubMed ID: 7438204

Title: Complete nucleotide sequence of the human delta-globin gene.

PubMed ID: 7438204

DOI: 10.1016/0092-8674(80)90427-4

PubMed ID: 16370491

Title: The IVS-II-1(G>A) betao-thalassemia mutation in cis with HbA2-Troodos [Delta 116 (G18) Arg>Cys (CGC>TGC)] causes a complex prenatal diagnosis in an Iranian family.

PubMed ID: 16370491

DOI: 10.1080/03630260500310828

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 680638

Title: Hemoglobins, XXIII. Note on the sequence of the delta-chains of human hemoglobin.

PubMed ID: 680638

PubMed ID: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

PubMed ID: 24275569

Title: An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.

PubMed ID: 24275569

DOI: 10.1016/j.jprot.2013.11.014

PubMed ID: 15449937

Title: 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.

PubMed ID: 15449937

DOI: 10.1021/bi048903i

PubMed ID: 5956309

Title: Haemoglobin A2: alpha-2-delta-2-16 glycine-->arginine.

PubMed ID: 5956309

DOI: 10.1038/2091217a0

PubMed ID: 5678016

Title: Haemoglobin Babinga (delta 136 glycine-aspartic acid): a new delta chain variant.

PubMed ID: 5678016

DOI: 10.1038/2191360a0

PubMed ID: 5824070

Title: Hemoglobin NYU, a delta chain variant, alpha 2 delta 2 Lys.

PubMed ID: 5824070

DOI: 10.1172/jci106171

PubMed ID: 4995018

Title: Hemoglobin A2-Indonesia or alpha 2 delta 2 69(E13) Gly-->Arg.

PubMed ID: 4995018

DOI: 10.1016/0005-2795(71)90192-9

PubMed ID: 4850239

Title: A new delta chain variant, haemoglobin-A2-Melbourne or alpha2 delta2 43Glu-Lys(CD2).

PubMed ID: 4850239

DOI: 10.1016/0005-2795(74)90218-9

PubMed ID: 1148221

Title: Hemoglobin-A2-Coburg or alpha2delta2116Arg leads to His (G18).

PubMed ID: 1148221

DOI: 10.1016/0005-2795(75)90065-3

PubMed ID: 952968

Title: Hemoglobin A2-Roosevelt: alpha 2 delta 2 20Val replaced by Glu.

PubMed ID: 952968

DOI: 10.1016/0005-2795(76)90089-1

PubMed ID: 7129931

Title: 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.

PubMed ID: 7129931

DOI: 10.3109/03630268208991698

PubMed ID: 6629825

Title: Hb A2-Manzanares or alpha 2 delta 2 121 (GH4) Glu replaced by Val, an unstable delta chain variant observed in a Spanish family.

PubMed ID: 6629825

DOI: 10.3109/03630268309038412

PubMed ID: 6629826

Title: 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.

PubMed ID: 6629826

DOI: 10.3109/03630268309038413

PubMed ID: 6469695

Title: HbA2 Victoria delta 24 (B6) Gly-->Asp. A new delta chain variant occurring with beta-thalassemia.

PubMed ID: 6469695

DOI: 10.3109/03630268408991709

PubMed ID: 6548205

Title: Hemoglobin A2 Fitzroy delta 142 Ala-->Asp: a new delta-chain variant.

PubMed ID: 6548205

DOI: 10.3109/03630268408991715

PubMed ID: 2869009

Title: Hemoglobin A2 Honai (alpha 2 delta 2(90)(F6)Glu-->Val): a new delta chain variant.

PubMed ID: 2869009

DOI: 10.3109/03630268508997040

PubMed ID: 3841531

Title: Hb A2 Yokoshima, alpha(2)delta(2)25(B7)Gly-->Asp, a new delta chain variant found in a Japanese family.

PubMed ID: 3841531

DOI: 10.3109/03630268508997042

PubMed ID: 2477064

Title: Hb A2-Wrens or alpha 2 delta 2 98(FG5) Val-->Met, an unstable delta chain variant identified by sequence analysis of amplified DNA.

PubMed ID: 2477064

DOI: 10.1016/0167-4781(89)90083-3

PubMed ID: 1742490

Title: Identification of four novel delta-globin gene mutations in Greek Cypriots using polymerase chain reaction and automated fluorescence-based DNA sequence analysis.

PubMed ID: 1742490

PubMed ID: 1787103

Title: Hb A2-Niigata [delta 1(NA1)Val-->Ala]: a new delta chain variant found in the Japanese population.

PubMed ID: 1787103

DOI: 10.3109/03630269109027889

PubMed ID: 1802883

Title: Hb A2-Parkville or delta 47(CD6)Asp-->Val, a new delta chain variant.

PubMed ID: 1802883

DOI: 10.3109/03630269108998860

PubMed ID: 2066116

Title: 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.

PubMed ID: 2066116

DOI: 10.1007/bf00204193

PubMed ID: 8364213

Title: Analysis of delta-globin gene mutations in Greek cypriots.

PubMed ID: 8364213

PubMed ID: 8330984

Title: Hb A2-Grovetown or alpha 2 delta (2)75(E19)Leu-->Val.

PubMed ID: 8330984

DOI: 10.3109/03630269308998907

PubMed ID: 8401543

Title: 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.

PubMed ID: 8401543

DOI: 10.1002/humu.1380020417

PubMed ID: 7713748

Title: Hb A2-Sant' Antioco alpha 2 delta (2)93(F9)Cys-->Gly: a new delta chain variant identified by sequencing of amplified DNA.

PubMed ID: 7713748

DOI: 10.3109/03630269409045776

PubMed ID: 8537235

Title: Hb A2-Agrinio [delta 43(CD2)Glu-->Gly(GAG-->GGG)]: a new delta chain variant detected in a Greek family.

PubMed ID: 8537235

DOI: 10.3109/03630269509005818

PubMed ID: 9101295

Title: 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].

PubMed ID: 9101295

DOI: 10.1002/(sici)1098-1004(1997)9:4<344::aid-humu7>3.0.co;2-5

PubMed ID: 11939506

Title: Hb A2-Monreale delta146(HC3)His-->Arg, a novel delta chain variant detected in west Sicily.

PubMed ID: 11939506

DOI: 10.1081/hem-120002934

PubMed ID: 12402333

Title: Epidemiology of the delta globin alleles in southern Italy shows complex molecular, genetic, and phenotypic features.

PubMed ID: 12402333

DOI: 10.1002/humu.10132

PubMed ID: 15921167

Title: 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.

PubMed ID: 15921167

DOI: 10.1081/hem-58593

PubMed ID: 16370490

Title: Identification of a new delta chain hemoglobin variant in a beta-thalassemia carrier: Hb A2-mumc [delta13(a10)Ala-->Asp].

PubMed ID: 16370490

DOI: 10.1080/03630260500310794

PubMed ID: 17145605

Title: Analysis of delta-globin gene alleles in the Sicilian population: identification of five new mutations.

PubMed ID: 17145605

Sequence Information:

  • Length: 147
  • Mass: 16055
  • Checksum: F86BA4A09A57BB05
  • Sequence:
  • MVHLTPEEKT AVNALWGKVN VDAVGGEALG RLLVVYPWTQ RFFESFGDLS SPDAVMGNPK 
    VKAHGKKVLG AFSDGLAHLD NLKGTFSQLS ELHCDKLHVD PENFRLLGNV LVCVLARNFG 
    KEFTPQMQAA YQKVVAGVAN ALAHKYH

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.