Details for: HBG2

Gene ID: 3048

Symbol: HBG2

Ensembl ID: ENSG00000196565

Description: hemoglobin subunit gamma 2

Associated with

Cells (max top 100)

(Marker Score score is uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: hepatoblast (CL0005026)
    Fold Change: 15.22
    Marker Score: 49853
  • Cell Name: astrocyte (CL0000127)
    Fold Change: 5.98
    Marker Score: 5184
  • Cell Name: erythroblast (CL0000765)
    Fold Change: 5.78
    Marker Score: 3609
  • Cell Name: cell of skeletal muscle (CL0000188)
    Fold Change: 4.06
    Marker Score: 3091
  • Cell Name: hematopoietic cell (CL0000988)
    Fold Change: 3.95
    Marker Score: 2629
  • Cell Name: endocardial cell (CL0002350)
    Fold Change: 3.74
    Marker Score: 2115
  • Cell Name: hepatic stellate cell (CL0000632)
    Fold Change: 3.3
    Marker Score: 1244
  • Cell Name: epithelial cell of lower respiratory tract (CL0002632)
    Fold Change: 3.09
    Marker Score: 12868
  • Cell Name: erythroid progenitor cell (CL0000038)
    Fold Change: 2.95
    Marker Score: 3079
  • Cell Name: fetal cardiomyocyte (CL0002495)
    Fold Change: 2.94
    Marker Score: 969
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: 2.86
    Marker Score: 50816
  • Cell Name: mesothelial cell of epicardium (CL0011019)
    Fold Change: 2.47
    Marker Score: 793
  • Cell Name: kidney interstitial cell (CL1000500)
    Fold Change: 2.21
    Marker Score: 1569
  • Cell Name: Kupffer cell (CL0000091)
    Fold Change: 2.17
    Marker Score: 2170
  • Cell Name: proerythroblast (CL0000547)
    Fold Change: 2.02
    Marker Score: 1368
  • Cell Name: cardiac endothelial cell (CL0010008)
    Fold Change: 1.98
    Marker Score: 3747.5
  • Cell Name: myeloid leukocyte (CL0000766)
    Fold Change: 1.9
    Marker Score: 2291.5
  • Cell Name: syncytiotrophoblast cell (CL0000525)
    Fold Change: 1.89
    Marker Score: 1552
  • Cell Name: chromaffin cell (CL0000166)
    Fold Change: 1.66
    Marker Score: 2336
  • Cell Name: promyelocyte (CL0000836)
    Fold Change: 1.63
    Marker Score: 804
  • Cell Name: peripheral nervous system neuron (CL2000032)
    Fold Change: 1.56
    Marker Score: 1752
  • Cell Name: sympathetic neuron (CL0011103)
    Fold Change: 1.53
    Marker Score: 507
  • Cell Name: kidney proximal straight tubule epithelial cell (CL1000839)
    Fold Change: 1.44
    Marker Score: 3397
  • Cell Name: neural crest cell (CL0011012)
    Fold Change: 1.39
    Marker Score: 1488
  • Cell Name: immature innate lymphoid cell (CL0001082)
    Fold Change: 1.31
    Marker Score: 2673
  • Cell Name: renal alpha-intercalated cell (CL0005011)
    Fold Change: 1.31
    Marker Score: 690.5
  • Cell Name: epicardial adipocyte (CL1000309)
    Fold Change: 1.31
    Marker Score: 634
  • Cell Name: mesangial cell (CL0000650)
    Fold Change: 1.21
    Marker Score: 1461
  • Cell Name: granulocyte (CL0000094)
    Fold Change: 1.21
    Marker Score: 541
  • Cell Name: renal beta-intercalated cell (CL0002201)
    Fold Change: 1.19
    Marker Score: 375.5
  • Cell Name: epithelial cell of alveolus of lung (CL0010003)
    Fold Change: 1.16
    Marker Score: 520
  • Cell Name: cardiac mesenchymal cell (CL0000569)
    Fold Change: 1.14
    Marker Score: 281
  • Cell Name: kidney loop of Henle thin ascending limb epithelial cell (CL1001107)
    Fold Change: 1.1
    Marker Score: 1118
  • Cell Name: parietal epithelial cell (CL1000452)
    Fold Change: 1.08
    Marker Score: 392
  • Cell Name: trophoblast giant cell (CL0002488)
    Fold Change: 1.07
    Marker Score: 347
  • Cell Name: chondrocyte (CL0000138)
    Fold Change: 1.03
    Marker Score: 463
  • Cell Name: kidney capillary endothelial cell (CL1000892)
    Fold Change: 1.03
    Marker Score: 322
  • Cell Name: osteoblast (CL0000062)
    Fold Change: 1
    Marker Score: 536
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: 1
    Marker Score: 71783
  • Cell Name: forebrain radial glial cell (CL0013000)
    Fold Change: 1
    Marker Score: 48010
  • Cell Name: lymphocyte (CL0000542)
    Fold Change: 0.99
    Marker Score: 502
  • Cell Name: mononuclear cell (CL0000842)
    Fold Change: 0.99
    Marker Score: 318
  • Cell Name: absorptive cell (CL0000212)
    Fold Change: 0.98
    Marker Score: 30407
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.96
    Marker Score: 15061
  • Cell Name: lymphoid lineage restricted progenitor cell (CL0000838)
    Fold Change: 0.96
    Marker Score: 574
  • Cell Name: erythrocyte (CL0000232)
    Fold Change: 0.95
    Marker Score: 529
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.95
    Marker Score: 2412
  • Cell Name: primitive red blood cell (CL0002355)
    Fold Change: 0.94
    Marker Score: 706
  • Cell Name: transit amplifying cell (CL0009010)
    Fold Change: 0.93
    Marker Score: 5332
  • Cell Name: Schwann cell (CL0002573)
    Fold Change: 0.93
    Marker Score: 321
  • Cell Name: renal principal cell (CL0005009)
    Fold Change: 0.92
    Marker Score: 710
  • Cell Name: hematopoietic stem cell (CL0000037)
    Fold Change: 0.92
    Marker Score: 484.5
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 0.91
    Marker Score: 2739
  • Cell Name: kidney cell (CL1000497)
    Fold Change: 0.91
    Marker Score: 606.5
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.87
    Marker Score: 5294
  • Cell Name: stromal cell (CL0000499)
    Fold Change: 0.86
    Marker Score: 1002
  • Cell Name: nephron tubule epithelial cell (CL1000494)
    Fold Change: 0.85
    Marker Score: 200
  • Cell Name: neural progenitor cell (CL0011020)
    Fold Change: 0.79
    Marker Score: 3073
  • Cell Name: early T lineage precursor (CL0002425)
    Fold Change: 0.79
    Marker Score: 601.5
  • Cell Name: hematopoietic multipotent progenitor cell (CL0000837)
    Fold Change: 0.78
    Marker Score: 383
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 0.78
    Marker Score: 1269
  • Cell Name: acinar cell (CL0000622)
    Fold Change: 0.78
    Marker Score: 548
  • Cell Name: fibroblast of cardiac tissue (CL0002548)
    Fold Change: 0.77
    Marker Score: 4616
  • Cell Name: Cajal-Retzius cell (CL0000695)
    Fold Change: 0.76
    Marker Score: 394
  • Cell Name: brush cell (CL0002204)
    Fold Change: 0.76
    Marker Score: 693
  • Cell Name: kidney collecting duct cell (CL1001225)
    Fold Change: 0.76
    Marker Score: 148
  • Cell Name: plasmablast (CL0000980)
    Fold Change: 0.74
    Marker Score: 987
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: 0.74
    Marker Score: 1261
  • Cell Name: ependymal cell (CL0000065)
    Fold Change: 0.74
    Marker Score: 258
  • Cell Name: vascular associated smooth muscle cell (CL0000359)
    Fold Change: 0.72
    Marker Score: 330
  • Cell Name: enterocyte of colon (CL1000347)
    Fold Change: 0.71
    Marker Score: 1090
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: 0.71
    Marker Score: 181
  • Cell Name: megakaryocyte (CL0000556)
    Fold Change: 0.7
    Marker Score: 399
  • Cell Name: GABAergic neuron (CL0000617)
    Fold Change: 0.69
    Marker Score: 2893
  • Cell Name: connective tissue cell (CL0002320)
    Fold Change: 0.69
    Marker Score: 179
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: 0.68
    Marker Score: 719.5
  • Cell Name: reticulocyte (CL0000558)
    Fold Change: 0.68
    Marker Score: 287
  • Cell Name: enteric neuron (CL0007011)
    Fold Change: 0.68
    Marker Score: 361
  • Cell Name: fraction A pre-pro B cell (CL0002045)
    Fold Change: 0.66
    Marker Score: 662
  • Cell Name: smooth muscle myoblast (CL0000514)
    Fold Change: 0.65
    Marker Score: 310
  • Cell Name: luminal cell of prostate epithelium (CL0002340)
    Fold Change: 0.65
    Marker Score: 376
  • Cell Name: ciliated cell (CL0000064)
    Fold Change: 0.64
    Marker Score: 2188
  • Cell Name: skeletal muscle satellite cell (CL0000594)
    Fold Change: 0.63
    Marker Score: 419
  • Cell Name: taste receptor cell (CL0000209)
    Fold Change: 0.62
    Marker Score: 532
  • Cell Name: macrophage (CL0000235)
    Fold Change: 0.59
    Marker Score: 661
  • Cell Name: podocyte (CL0000653)
    Fold Change: 0.59
    Marker Score: 219
  • Cell Name: enteric smooth muscle cell (CL0002504)
    Fold Change: 0.58
    Marker Score: 1365
  • Cell Name: epithelial cell of nephron (CL1000449)
    Fold Change: 0.58
    Marker Score: 1204.5
  • Cell Name: late pro-B cell (CL0002048)
    Fold Change: 0.57
    Marker Score: 674
  • Cell Name: intestinal enteroendocrine cell (CL1001516)
    Fold Change: 0.56
    Marker Score: 444
  • Cell Name: B cell (CL0000236)
    Fold Change: 0.56
    Marker Score: 530
  • Cell Name: dermis microvascular lymphatic vessel endothelial cell (CL2000041)
    Fold Change: 0.55
    Marker Score: 178
  • Cell Name: innate lymphoid cell (CL0001065)
    Fold Change: 0.55
    Marker Score: 196
  • Cell Name: neuron (CL0000540)
    Fold Change: 0.54
    Marker Score: 2217
  • Cell Name: mesodermal cell (CL0000222)
    Fold Change: 0.54
    Marker Score: 7152
  • Cell Name: group 3 innate lymphoid cell (CL0001071)
    Fold Change: 0.54
    Marker Score: 226.5
  • Cell Name: megakaryocyte-erythroid progenitor cell (CL0000050)
    Fold Change: 0.54
    Marker Score: 224
  • Cell Name: epithelial cell of glomerular capsule (CL1000450)
    Fold Change: 0.53
    Marker Score: 136
  • Cell Name: ciliated epithelial cell (CL0000067)
    Fold Change: 0.53
    Marker Score: 241
  • Cell Name: kidney distal convoluted tubule epithelial cell (CL1000849)
    Fold Change: 0.52
    Marker Score: 554

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Other Information

**Key characteristics:** - The HBG2 gene is located on chromosome 11p15.5. - It is a large gene with a molecular weight of approximately 145,000 bp. - The protein encoded by HBG2 is a glycoprotein with a molecular weight of approximately 64,500 Da. **Pathways and functions:** - HBG2 is involved in the transport of oxygen in the blood. - It is a key regulator of oxygen delivery to tissues. - The protein is also involved in the detoxification of reactive oxygen species (ROS). - HBG2 is a major protein in maintaining the oxygen-hemoglobin complex, which transports oxygen from the lungs to the tissues. - It also plays a role in the regulation of inflammation and immune responses. **Clinical significance:** - Mutations in the HBG2 gene have been linked to several human diseases, including sickle cell anemia and beta-thalassemia. - In sickle cell anemia, mutations in HBG2 cause the production of a defective hemoglobin protein that is unable to carry oxygen effectively. This results in the characteristic symptoms of the disease, such as pain, anemia, and organ damage. - In beta-thalassemia, mutations in HBG2 result in the production of a hemoglobin protein that is only partially functional. This can also lead to symptoms of the disease, such as anemia and thalassemia. **Conclusion:** The HBG2 gene is a critical protein for oxygen transport in the blood. Mutations in the HBG2 gene can have significant clinical implications, as they can lead to the development of various diseases that affect the oxygen-hemoglobin complex.

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 EPD 1 Ensembl 1 EvolutionaryTrace 1 ExpressionAtlas 1 GO 14 Gene3D 1 GeneCards 1 GeneTree 1 GeneWiki 1 Genevisible 1 GenomeRNAi 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 4 KEGG 1 MANE-Select 1 MIM 3 MINT 1 MalaCards 1 MassIVE 1 MaxQB 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 3 OrthoDB 1 PANTHER 2 PDB 8 PDBsum 4 PIR 1 PRINTS 1 PRO 1 PROSITE 1 PROSITE-ProRule 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 UniProtKB 2 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

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. For the full schema, download it here.