Details for: HBG2

Gene ID: 3048

Gene Type:  Protein-coding  - A gene that serves as a template for producing a messenger RNA (mRNA) molecule, which is then translated into a functional protein.

Symbol: HBG2

Ensembl ID: ENSG00000196565

Description: hemoglobin subunit gamma 2

Cell Significance Landscape

Associated with

Significant Cells

Cell Significance Index (CSI) scores for the chosen context(s)

  • erythrocyte CL0000232
    CSI 27.36
    rCSI 62.07%
    PRS 90.44
  • promyelocyte CL0000836
    CSI 19.81
    rCSI 28.57%
    PRS 94.14
  • erythroblast CL0000765
    CSI 15.02
    rCSI 39.86%
    PRS 92.84
  • stromal cell CL0000499
    CSI 14.77
    rCSI 41.56%
    PRS 89.26
  • innate lymphoid cell CL0001065
    CSI 12.57
    rCSI 25.95%
    PRS 86.87
  • megakaryocyte-erythroid progenitor cell CL0000050
    CSI 12.39
    rCSI 11.19%
    PRS 91.52
  • early lymphoid progenitor CL0000936
    CSI 11.39
    rCSI 10.01%
    PRS 95.14
  • precursor B cell CL0000817
    CSI 11.14
    rCSI 9.76%
    PRS 95.35
  • mature NK T cell CL0000814
    CSI 9.97
    rCSI 12.75%
    PRS 95.45
  • ciliated epithelial cell CL0000067
    CSI 9.88
    rCSI 8.69%
    PRS 84.95
  • erythroid lineage cell CL0000764
    CSI 9.46
    rCSI 60.86%
    PRS 94.17
  • immature B cell CL0000816
    CSI 8.47
    rCSI 6.29%
    PRS 96.89
  • neural cell CL0002319
    CSI 7.8
    rCSI 29.42%
    PRS 79.91
  • primitive red blood cell CL0002355
    CSI 7.8
    rCSI 42.06%
    PRS 93.31
  • myeloid leukocyte CL0000766
    CSI 7.18
    rCSI 6.62%
    PRS 93.63
  • inhibitory interneuron CL0000498
    CSI 6.73
    rCSI 15.54%
    PRS 85.01
  • cerebral cortex GABAergic interneuron CL0010011
    CSI 6.44
    rCSI 19%
    PRS 92.16
  • myofibroblast cell CL0000186
    CSI 5.96
    rCSI 8.25%
    PRS 89.68
  • common dendritic progenitor CL0001029
    CSI 5.75
    rCSI 7.22%
    PRS 96.12
  • enteric smooth muscle cell CL0002504
    CSI 5.71
    rCSI 8.14%
    PRS 92.4
  • dendritic cell CL0000451
    CSI 5.69
    rCSI 7.01%
    PRS 92.02
  • intestine goblet cell CL0019031
    CSI 5.56
    rCSI 4.93%
    PRS 90.41
  • pro-B cell CL0000826
    CSI 5.4
    rCSI 4.48%
    PRS 93.41
  • progenitor cell CL0011026
    CSI 4.96
    rCSI 10.56%
    PRS 86.72
  • interstitial cell of Cajal CL0002088
    CSI 4.73
    rCSI 6.02%
    PRS 95.18
  • endothelial cell of vascular tree CL0002139
    CSI 4.67
    rCSI 25.56%
    PRS 89
  • peripheral nervous system neuron CL2000032
    CSI 4.6
    rCSI 6.27%
    PRS 86.91
  • neural progenitor cell CL0011020
    CSI 4.56
    rCSI 20.05%
    PRS 83.07
  • macrophage CL0000235
    CSI 4.38
    rCSI 7.97%
    PRS 92.9
  • epithelial cell of lung CL0000082
    CSI 3.99
    rCSI 3.31%
    PRS 93.43
  • erythroid progenitor cell CL0000038
    CSI 3.88
    rCSI 22.22%
    PRS 93.85
  • mast cell CL0000097
    CSI 3.84
    rCSI 8.3%
    PRS 90.71
  • promonocyte CL0000559
    CSI 3.79
    rCSI 6.49%
    PRS 93.9
  • hepatocyte CL0000182
    CSI 3.67
    rCSI 6.56%
    PRS 90.99
  • hematopoietic stem cell CL0000037
    CSI 3.65
    rCSI 2.42%
    PRS 93.74
  • endothelial cell of placenta CL0009092
    CSI 3.62
    rCSI 17.86%
    PRS 95.17
  • mesenchymal cell CL0008019
    CSI 3.52
    rCSI 8.93%
    PRS 88.31
  • cerebral cortex endothelial cell CL1001602
    CSI 3.43
    rCSI 5.93%
    PRS 88.14
  • granulocyte CL0000094
    CSI 3.38
    rCSI 5.16%
    PRS 95.76
  • mesodermal cell CL0000222
    CSI 3.36
    rCSI 4.03%
    PRS 91.6
  • platelet CL0000233
    CSI 3.26
    rCSI 13.54%
    PRS 88.77
  • fraction A pre-pro B cell CL0002045
    CSI 2.89
    rCSI 3.31%
    PRS 95.44
  • chondrocyte CL0000138
    CSI 2.81
    rCSI 4.46%
    PRS 88.79
  • intestinal epithelial cell CL0002563
    CSI 2.72
    rCSI 2.84%
    PRS 90.45
  • megakaryocyte CL0000556
    CSI 2.71
    rCSI 11.76%
    PRS 93.05
  • vascular associated smooth muscle cell CL0000359
    CSI 2.19
    rCSI 7.11%
    PRS 90.9
  • enteroendocrine cell CL0000164
    CSI 2.05
    rCSI 2.8%
    PRS 90.71
  • neutrophil CL0000775
    CSI 2.02
    rCSI 11.27%
    PRS 89.97
  • forebrain radial glial cell CL0013000
    CSI 2
    rCSI 6.41%
    PRS 92.32
  • myelocyte CL0002193
    CSI 1.51
    rCSI 9.92%
    PRS 96.59
  • enterocyte CL0000584
    CSI 1.31
    rCSI 2.12%
    PRS 89.86
  • enteric neuron CL0007011
    CSI 0.41
    rCSI 6%
    PRS 93.31
  • osteoblast CL0000062
    CSI 0.31
    rCSI 7.74%
    PRS 96.59

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.
Network Configuration

Explore relationships of the current gene. Select an Interaction Source: 'ONTOLOGY' for shared pathways (GO/Reactome) or 'STRING' for protein-protein interactions. Further refine by selecting context genes and comparing Cell Significance Index (CSI) scores between baseline and target cell types and their specific contexts.

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Comma-separated if multiple.
Legend:
  • Query Gene
  • Node Color (Target Cell CSI, relative to current network):
    • Very High
    • High
    • Medium
    • Low
    • Very Low
    • CSI N/A
  • Node Size: Proportional to Target Cell CSI magnitude
  • STRING PPI Edge
  • Shared Pathway Edge (ONTOLOGY)

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Other Information

This section provides additional information about the gene, including a description generated by an AI language model and details about associated proteins.

## Summary [HBG2](/details-gene/3048) (Hemoglobin Subunit Gamma 2) is a protein-coding gene located on chromosome 11p15.4 that encodes the gamma-2 chain of fetal hemoglobin (HbF). As a critical component of the [hemoglobin complex](/details-cell/GO:0005833), its primary function is oxygen transport ([GO:0015671](https://www.ebi.ac.uk/QuickGO/term/GO:0015671)) from the mother to the fetus during development. Expression analysis shows that **Overall**, [HBG2](/details-gene/3048) is most significant in cells of the erythroid lineage, particularly [erythrocyte](/details-cell/CL0000232)s, [promyelocyte](/details-cell/CL0000836)s, and [erythroblast](/details-cell/CL0000765)s, underscoring its central role in hematopoiesis and red blood cell function. Its clinical relevance ([142250](https://omim.org/entry/142250)) is primarily associated with hemoglobinopathies, where its re-expression in adults can ameliorate diseases caused by defects in the adult beta-globin chain. ## Cellular Roles and Expression Landscape The expression profile of [HBG2](/details-gene/3048) firmly establishes it as a key gene in erythropoiesis. **Overall**, its highest significance is observed in mature [erythrocyte](/details-cell/CL0000232)s (CSI: 27.36) and their precursors, including [erythroblast](/details-cell/CL0000765)s (CSI: 15.02) and [megakaryocyte-erythroid progenitor cell](/details-cell/CL0000050)s (CSI: 12.39). This pattern is consistent with its canonical role in forming fetal hemoglobin, which is the dominant oxygen carrier during fetal life. Beyond the committed erythroid lineage, significant expression in [promyelocyte](/details-cell/CL0000836)s (CSI: 19.81) and [early lymphoid progenitor](/details-cell/CL0000936)s (CSI: 11.39) suggests that transcription of the gamma-globin locus may be initiated early during hematopoietic stem cell differentiation, prior to definitive lineage commitment. The gene's notable significance in other cell types, such as [stromal cell](/details-cell/CL0000499)s (CSI: 14.77) and [neural cell](/details-cell/CL0002319)s (CSI: 7.80), is less understood and may point toward non-canonical functions of hemoglobin subunits, potentially related to cellular respiration or detoxification processes in non-erythroid tissues. ## Pathways and Molecular Function The molecular functions and biological pathways associated with [HBG2](/details-gene/3048) are centered on its role as a globin subunit. Gene Ontology annotations highlight its core activities, including [oxygen carrier activity](/details-cell/GO:0005344), [oxygen binding](/details-cell/GO:0019825), and [heme binding](/details-cell/GO:0020037). These functions are essential for the biological process of [oxygen transport](/details-cell/GO:0015671). Additionally, its annotated role in [cellular oxidant detoxification](/details-cell/GO:0098869) and [peroxidase activity](/details-cell/GO:0004601) suggests a secondary capacity to mitigate oxidative stress. Consistent with its expression in hematopoietic cells, [HBG2](/details-gene/3048) is implicated in the Reactome pathway for [Hemostasis](/details-pathway/R-HSA-109582), reflecting the central role of red blood cells in blood physiology. Its involvement in [Factors involved in megakaryocyte development and platelet production](/details-pathway/R-HSA-983231) aligns with its high expression in shared [megakaryocyte-erythroid progenitor cell](/details-cell/CL0000050)s, placing it at a key decision point in hematopoietic lineage development. Structurally, it is a known component of the cytosolic [hemoglobin complex](/details-cell/GO:0005833), as confirmed by numerous studies ([Link](https://doi.org/10.1016/s0022-2836(77)80158-7)). ## Research Directions The well-defined role of [HBG2](/details-gene/3048) in fetal hematopoiesis and its potential for therapeutic reactivation in adults provides a foundation for several research avenues. ### Testable Hypotheses 1. The observed expression of [HBG2](/details-gene/3048) in non-erythroid cells, such as [stromal cell](/details-cell/CL0000499)s, serves a non-canonical function related to reactive oxygen species (ROS) scavenging, leveraging its annotated [peroxidase activity](/details-cell/GO:0004601), rather than systemic oxygen transport. 2. Epigenetic modifiers that target the silencing complexes at the gamma-globin locus in adult hematopoietic progenitors can be selectively inhibited to induce [HBG2](/details-gene/3048) expression to therapeutic levels, effectively replacing the function of deficient adult beta-globin in diseases like beta-thalassemia. ### Proposed Experiment To test the hypothesis of a non-canonical, protective role for [HBG2](/details-gene/3048) in [stromal cell](/details-cell/CL0000499)s, one could employ a CRISPR-Cas9 knockout strategy. Specifically, [HBG2](/details-gene/3048) would be knocked out in a human mesenchymal stromal cell line. Wild-type and knockout cells would then be subjected to oxidative stress induced by hydrogen peroxide or hypoxia-reoxygenation injury. The resulting cellular damage could be quantified by measuring intracellular ROS levels using a fluorescent probe (e.g., DCF-DA), assessing mitochondrial membrane potential, and performing cell viability assays (e.g., MTT). A significant increase in ROS and cell death in the knockout line compared to the wild-type control would support a protective, antioxidant-like function for [HBG2](/details-gene/3048) in this cell type. ### Therapeutic Potential [HBG2](/details-gene/3048) is not a typical drug target for inhibition; rather, it is a major target for therapeutic **activation**. In adult humans, the gene is normally silenced, and the beta-globin subunit (HBB) is used instead. In hemoglobinopathies such as sickle cell disease and beta-thalassemia, which are caused by mutations in HBB, re-activating the expression of fetal hemoglobin (containing [HBG2](/details-gene/3048)) can compensate for the defective adult hemoglobin. Therefore, [HBG2](/details-gene/3048) is a prime candidate for therapeutic strategies involving gene therapy (e.g., introducing a functional copy or editing regulatory elements to induce expression) or small molecule drugs that disrupt the epigenetic silencing machinery at the gamma-globin locus.

Genular Protein ID: 681510906

Symbol: HBG2_HUMAN

Name: Hemoglobin subunit gamma-2

UniProtKB Accession Codes:

P69892 A8MZE0 P02096 P62027 Q14491 Q68NH9 Q96FH6 Q96FH7

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CDD 1 CORUM 1 CTD 1 ChEBI 4 ChiTaRS 1 ComplexPortal 2 DMDM 1 DNASU 1 DisGeNET 1 EMBL 12 Ensembl 1 EvolutionaryTrace 1 ExpressionAtlas 1 GO 14 Gene3D 1 GeneCards 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 5 KEGG 1 MANE-Select 1 MIM 3 MINT 1 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 3 OrthoDB 1 PANTHER 2 PDB 4 PDBsum 4 PIR 1 PRINTS 1 PRO 1 PROSITE 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 1 Pumba 1 RNAct 1 Reactome 1 RefSeq 1 SIGNOR 1 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 7438203

Title: Human fetal G gamma- and A gamma-globin genes: complete nucleotide sequences suggest that DNA can be exchanged between these duplicated genes.

PubMed ID: 7438203

DOI: 10.1016/0092-8674(80)90426-2

PubMed ID: 7250702

Title: Nucleotide sequence of human G gamma globin messenger RNA.

PubMed ID: 7250702

DOI: 10.1016/0378-1119(80)90103-1

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

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: 14087393

Title: The amino acid sequence of the gamma chain of human fetal hemoglobin.

PubMed ID: 14087393

DOI: 10.1021/bi00905a016

PubMed ID: 2581851

Title: Cloning specific complete polyadenylylated 3'-terminal cDNA segments.

PubMed ID: 2581851

DOI: 10.1016/0378-1119(85)90093-9

PubMed ID: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

PubMed ID: 23186163

Title: Toward a comprehensive characterization of a human cancer cell phosphoproteome.

PubMed ID: 23186163

DOI: 10.1021/pr300630k

PubMed ID: 881729

Title: Structure of human foetal deoxyhaemoglobin.

PubMed ID: 881729

DOI: 10.1016/s0022-2836(77)80158-7

PubMed ID: 5554303

Title: Human fetal hemoglobin F 1. Acetylation status.

PubMed ID: 5554303

DOI: 10.1016/s0021-9258(18)62282-3

PubMed ID: 5792729

Title: Haemoglobin F(Malta): a new foetal haemoglobin variant with a high incidence in Maltese infants.

PubMed ID: 5792729

DOI: 10.1038/223311a0

PubMed ID: 4429671

Title: Haemoglobin F Auckland G gamma 7 Asp leads to Asn: further evidence for multiple genes for the gamma chain.

PubMed ID: 4429671

DOI: 10.1016/0005-2795(74)90004-x

PubMed ID: 4846278

Title: Haemoglobin F Port Royal (alpha2G gamma2 125 Glu leads to Ala).

PubMed ID: 4846278

DOI: 10.1111/j.1365-2141.1974.tb06798.x

PubMed ID: 4837284

Title: Haemoglobin F Malaysia: alpha 2, gamma 2 1(NA1) glycine-->cysteine; 136 glycine.

PubMed ID: 4837284

DOI: 10.1136/jmg.11.1.25

PubMed ID: 1127124

Title: A new cause of haemolytic anaemia in the newborn. A description of an unstable fetal haemoglobin: F Poole, alpha2-G-gamma2 130 tryptophan yields glycine.

PubMed ID: 1127124

DOI: 10.1136/jcp.28.4.317

PubMed ID: 836882

Title: Haemoglobin F Melbourne Ggamma 16 Gly leads to Arg and haemoglobin F carlton Ggamma 121 Glu leads to Lys. Further evidence for varied activity of gamma-chain genes.

PubMed ID: 836882

DOI: 10.1016/0005-2795(77)90020-4

PubMed ID: 6172403

Title: Hb F-Meinohama or alpha 2 gamma 2 (5 Glu replaced by Gly; 75 Ile; 136 Gly).

PubMed ID: 6172403

DOI: 10.3109/03630268108991687

PubMed ID: 6814491

Title: Hemoglobin F Lodz (G gamma I 44 Ser replaced by Arg). A newly identified variant from an American infant of Polish descent.

PubMed ID: 6814491

DOI: 10.1016/0167-4838(82)90353-3

PubMed ID: 6186522

Title: Hb F Kingston (G gamma 55 [D6] Met leads to Arg).

PubMed ID: 6186522

DOI: 10.1016/0014-5793(82)81307-0

PubMed ID: 6186635

Title: Hemoglobin F-Caltech: alpha 2 G gamma 2 120Lys replaced by Gln.

PubMed ID: 6186635

DOI: 10.3109/03630268209046451

PubMed ID: 6186636

Title: Hb F-Columbus-Ga or alpha 2 G gamma 2 94(FGl) Asp replaced by Asn.

PubMed ID: 6186636

DOI: 10.3109/03630268209046452

PubMed ID: 6192110

Title: Hb F-Kennestone or alpha 2G gamma 2 (EF1)77 His leads to Arg observed in a Caucasian baby.

PubMed ID: 6192110

DOI: 10.3109/03630268309048656

PubMed ID: 6206897

Title: Hb F-La Grange or alpha 2 gamma 2 101(G3)Glu-->Lys; 75Ile; 136Gly: a high oxygen affinity fetal hemoglobin variant observed in a Caucasian newborn.

PubMed ID: 6206897

DOI: 10.1016/0167-4838(84)90208-5

PubMed ID: 2579547

Title: -G gamma A gamma-thalassemia and gamma-chain variants in Chinese newborn babies.

PubMed ID: 2579547

DOI: 10.1002/ajh.2830180303

PubMed ID: 2581919

Title: Hb F-Tokyo or alpha 2G gamma 2 34(B16)Val-->Ile, a silent gamma chain variant detected by reverse phase high performance liquid chromatography.

PubMed ID: 2581919

DOI: 10.3109/03630268508996979

PubMed ID: 2420748

Title: Hb F-Urumqi G gamma I22(B4)Asp-->Gly: a new fetal hemoglobin variant found in a Uygur baby.

PubMed ID: 2420748

DOI: 10.3109/03630268609072467

PubMed ID: 2435680

Title: Hb F-Albaicin or G gamma 8(A5)Lys-->Glu or Gln.

PubMed ID: 2435680

DOI: 10.3109/03630268609036569

PubMed ID: 3120456

Title: Neonatal screening and mass-spectrometric analysis of hemoglobin variants in Japan.

PubMed ID: 3120456

DOI: 10.1159/000205857

PubMed ID: 2442122

Title: Hb F-Oakland or alpha 2G gamma I2(26)(B8)Glu-->Lys.

PubMed ID: 2442122

DOI: 10.3109/03630268709005796

PubMed ID: 2442123

Title: Hb F-Clarke or alpha 2G gamma 2(65)(E9)Lys-->Asn.

PubMed ID: 2442123

DOI: 10.3109/03630268709005797

PubMed ID: 2459082

Title: Hb F-Granada or alpha 2G gamma (2)22(B4)Asp-->Val: a new human fetal hemoglobin variant.

PubMed ID: 2459082

DOI: 10.3109/03630268808998041

PubMed ID: 2459083

Title: Hb F-Austell or alpha 2G gamma (2)40(C6)Arg-->Lys.

PubMed ID: 2459083

DOI: 10.3109/03630268808998042

PubMed ID: 2483933

Title: Hb F-M-Osaka or alpha 2G gamma 2(63)(E7)His-->Tyr in a Caucasian male infant.

PubMed ID: 2483933

DOI: 10.3109/03630268908998852

PubMed ID: 2470017

Title: Mutant fetal hemoglobin causing cyanosis in a newborn.

PubMed ID: 2470017

PubMed ID: 1703138

Title: Hb F-Brooklyn or alpha 2G gamma 2(66)(E10)Lys-->Gln.

PubMed ID: 1703138

DOI: 10.3109/03630269009046963

PubMed ID: 1703139

Title: Hb F-Onoda or alpha 2G gamma 2(146)(HC3)His-->Tyr, a newly discovered fetal hemoglobin variant in a Japanese newborn.

PubMed ID: 1703139

DOI: 10.3109/03630269009046964

PubMed ID: 1706691

Title: Hb F-Catalonia or alpha 2G gamma(2)15(A12)Trp-->Arg.

PubMed ID: 1706691

DOI: 10.3109/03630269009005804

PubMed ID: 1714434

Title: Hb F-Charlotte, an A gamma variant with a threonine residue in position gamma 75 and a glycine residue in position gamma 136.

PubMed ID: 1714434

DOI: 10.3109/03630269009046970

PubMed ID: 1726095

Title: Hb F-Cosenza or G gamma 25(B7)Gly-->Glu: a new fast-moving fetal hemoglobin variant.

PubMed ID: 1726095

DOI: 10.3109/03630269109027898

PubMed ID: 8144355

Title: Hb F-Saskatoon or alpha 2G gamma (2)21(B3)Glu-->Lys observed in a North American indian newborn.

PubMed ID: 8144355

DOI: 10.3109/03630269309043495

PubMed ID: 7713741

Title: Hb F-Macedonia-II [G gamma 104(G6)Lys-->Asn]: a new gamma chain variant.

PubMed ID: 7713741

DOI: 10.3109/03630269409045769

PubMed ID: 7741137

Title: Hemoglobin F-Cincinnati, alpha 2G gamma 2 41(C7) Phe-->Ser in a newborn with cyanosis.

PubMed ID: 7741137

DOI: 10.1002/ajh.2830490108

PubMed ID: 7558873

Title: Two fetal hemoglobin variants affecting the same residue: Hb F-Emirates [G gamma 59(E3)Lys-->Glu] and Hb F-Sacromonte [G gamma 59(E3)Lys-->Gln].

PubMed ID: 7558873

DOI: 10.3109/03630269509036937

PubMed ID: 8718700

Title: Hb F-Veleta or alpha 2 G gamma(2)40(C6)Arg-->Gly.

PubMed ID: 8718700

PubMed ID: 8718701

Title: The G gamma T chain (G gamma 75 Thr; 136 Gly) in Hb F-Charlotte is the product of an A gamma gene with a limited gene conversion and that in Hb F-Waynesboro of a mutated G gamma gene.

PubMed ID: 8718701

DOI: 10.3109/03630269509005834

PubMed ID: 8566966

Title: HbF-Lesvos: an HbF variant due to a novel G gamma mutation (G gamma 75 ATA-->ACA) detected in a Greek family.

PubMed ID: 8566966

DOI: 10.1007/bf02265278

PubMed ID: 10722114

Title: A new, electrophoretically silent, fetal hemoglobin variant: Hb F-Calabria Ggamma118(GH1)Phe-->Leu.

PubMed ID: 10722114

DOI: 10.3109/03630260009002272

PubMed ID: 10722115

Title: Two new Ggamma chain variants: Hb F-Clamart [gamma17(A14)Lys-->Asn] and Hb F-Ouled Rabah [gamma19(B1)Asn-->Lys].

PubMed ID: 10722115

DOI: 10.3109/03630260009002273

PubMed ID: 11791877

Title: A new Ggamma chain variant: Hb F-Coignieres [gamma75(E19)Ile-->Val].

PubMed ID: 11791877

DOI: 10.1081/hem-100107881

PubMed ID: 15645283

Title: Severe hereditary haemolytic anaemia in a Caucasian newborn: a new fetal haemoglobin variant Hb F-Bonheiden ((G)gamma 38(C4) Thr-->Pro).

PubMed ID: 15645283

DOI: 10.1007/s00431-004-1614-7

PubMed ID: 16370494

Title: A new G(gamma) chain variant: Hb F-Bron [gamma20(B2)Val-->Ala].

PubMed ID: 16370494

DOI: 10.1080/03630260500312725

PubMed ID: 19065339

Title: Neonatal cyanosis due to a novel fetal hemoglobin: Hb F-Circleville [Ggamma63(E7)His-->Leu, CAT>CTT].

PubMed ID: 19065339

DOI: 10.1080/03630260802507915

PubMed ID: 21561349

Title: A hemoglobin variant associated with neonatal cyanosis and anemia.

PubMed ID: 21561349

DOI: 10.1056/nejmoa1013579

PubMed ID: 24502349

Title: A new (G)gamma-globin variant causing low oxygen affinity: Hb F-Brugine/Feldkirch [(G)gamma105(G7)Leu?His; HBG2: c.317T>A].

PubMed ID: 24502349

DOI: 10.3109/03630269.2013.870079

Sequence Information:

  • Length: 147
  • Mass: 16126
  • Checksum: 8FCDC4441B416DDE
  • Sequence:
    • MGHFTEEDKA TITSLWGKVN VEDAGGETLG RLLVVYPWTQ RFFDSFGNLS SASAIMGNPK 
VKAHGKKVLT SLGDAIKHLD DLKGTFAQLS ELHCDKLHVD PENFKLLGNV LVTVLAIHFG 
KEFTPEVQAS WQKMVTGVAS ALSSRYH