Hemoglobin subunit gamma-2

NameHemoglobin subunit gamma-2
Synonyms
  • Gamma-2-globin
  • Hb F Ggamma
  • Hemoglobin gamma-2 chain
  • Hemoglobin gamma-G chain
Gene NameHBG2
OrganismHuman
Amino acid sequence
>lcl|BSEQ0008766|Hemoglobin subunit gamma-2
MGHFTEEDKATITSLWGKVNVEDAGGETLGRLLVVYPWTQRFFDSFGNLSSASAIMGNPK
VKAHGKKVLTSLGDAIKHLDDLKGTFAQLSELHCDKLHVDPENFKLLGNVLVTVLAIHFG
KEFTPEVQASWQKMVTGVASALSSRYH
Number of residues147
Molecular Weight16126.35
Theoretical pINot Available
GO Classification
Functions
  • iron ion binding
  • heme binding
  • oxygen binding
  • oxygen transporter activity
Processes
  • blood coagulation
Components
  • hemoglobin complex
  • cytosol
  • blood microparticle
General FunctionGamma chains make up the fetal hemoglobin F, in combination with alpha chains.
Specific FunctionHeme binding
Pfam Domain Function
Transmembrane RegionsNot Available
GenBank Protein IDNot Available
UniProtKB IDP69892
UniProtKB Entry NameHBG2_HUMAN
Cellular LocationNot Available
Gene sequence
>lcl|BSEQ0017586|Hemoglobin subunit gamma-2 (HBG2)
ATGGGTCATTTCACAGAGGAGGACAAGGCTACTATCACAAGCCTGTGGGGCAAGGTGAAT
GTGGAAGATGCTGGAGGAGAAACCCTGGGAAGGCTCCTGGTTGTCTACCCATGGACCCAG
AGGTTCTTTGACAGCTTTGGCAACCTGTCCTCTGCCTCTGCCATCATGGGCAACCCCAAA
GTCAAGGCACATGGCAAGAAGGTGCTGACTTCCTTGGGAGATGCCATAAAGCACCTGGAT
GATCTCAAGGGCACCTTTGCCCAGCTGAGTGAACTGCACTGTGACAAGCTGCATGTGGAT
CCTGAGAACTTCAAGCTCCTGGGAAATGTGCTGGTGACCGTTTTGGCAATCCATTTCGGC
AAAGAATTCACCCCTGAGGTGCAGGCTTCCTGGCAGAAGATGGTGACTGGAGTGGCCAGT
GCCCTGTCCTCCAGATACCACTGA
GenBank Gene IDNot Available
GeneCard IDNot Available
GenAtlas IDNot Available
HGNC IDHGNC:4832
Chromosome Location11
Locus11p15.4
References
  1. Slightom JL, Blechl AE, Smithies O: Human fetal G gamma- and A gamma-globin genes: complete nucleotide sequences suggest that DNA can be exchanged between these duplicated genes. Cell. 1980 Oct;21(3):627-38. 7438203
  2. Cavallesco C, Forget BG, deRiel JK, Wilson LB, Wilson JT, Weissman SM: Nucleotide sequence of human G gamma globin messenger RNA. Gene. 1980 Dec;12(3-4):215-21. 7250702
  3. Ota T, Suzuki Y, Nishikawa T, Otsuki T, Sugiyama T, Irie R, Wakamatsu A, Hayashi K, Sato H, Nagai K, Kimura K, Makita H, Sekine M, Obayashi M, Nishi T, Shibahara T, Tanaka T, Ishii S, Yamamoto J, Saito K, Kawai Y, Isono Y, Nakamura Y, Nagahari K, Murakami K, Yasuda T, Iwayanagi T, Wagatsuma M, Shiratori A, Sudo H, Hosoiri T, Kaku Y, Kodaira H, Kondo H, Sugawara M, Takahashi M, Kanda K, Yokoi T, Furuya T, Kikkawa E, Omura Y, Abe K, Kamihara K, Katsuta N, Sato K, Tanikawa M, Yamazaki M, Ninomiya K, Ishibashi T, Yamashita H, Murakawa K, Fujimori K, Tanai H, Kimata M, Watanabe M, Hiraoka S, Chiba Y, Ishida S, Ono Y, Takiguchi S, Watanabe S, Yosida M, Hotuta T, Kusano J, Kanehori K, Takahashi-Fujii A, Hara H, Tanase TO, Nomura Y, Togiya S, Komai F, Hara R, Takeuchi K, Arita M, Imose N, Musashino K, Yuuki H, Oshima A, Sasaki N, Aotsuka S, Yoshikawa Y, Matsunawa H, Ichihara T, Shiohata N, Sano S, Moriya S, Momiyama H, Satoh N, Takami S, Terashima Y, Suzuki O, Nakagawa S, Senoh A, Mizoguchi H, Goto Y, Shimizu F, Wakebe H, Hishigaki H, Watanabe T, Sugiyama A, Takemoto M, Kawakami B, Yamazaki M, Watanabe K, Kumagai A, Itakura S, Fukuzumi Y, Fujimori Y, Komiyama M, Tashiro H, Tanigami A, Fujiwara T, Ono T, Yamada K, Fujii Y, Ozaki K, Hirao M, Ohmori Y, Kawabata A, Hikiji T, Kobatake N, Inagaki H, Ikema Y, Okamoto S, Okitani R, Kawakami T, Noguchi S, Itoh T, Shigeta K, Senba T, Matsumura K, Nakajima Y, Mizuno T, Morinaga M, Sasaki M, Togashi T, Oyama M, Hata H, Watanabe M, Komatsu T, Mizushima-Sugano J, Satoh T, Shirai Y, Takahashi Y, Nakagawa K, Okumura K, Nagase T, Nomura N, Kikuchi H, Masuho Y, Yamashita R, Nakai K, Yada T, Nakamura Y, Ohara O, Isogai T, Sugano S: Complete sequencing and characterization of 21,243 full-length human cDNAs. Nat Genet. 2004 Jan;36(1):40-5. Epub 2003 Dec 21. 14702039
  4. Gerhard DS, Wagner L, Feingold EA, Shenmen CM, Grouse LH, Schuler G, Klein SL, Old S, Rasooly R, Good P, Guyer M, Peck AM, Derge JG, Lipman D, Collins FS, Jang W, Sherry S, Feolo M, Misquitta L, Lee E, Rotmistrovsky K, Greenhut SF, Schaefer CF, Buetow K, Bonner TI, Haussler D, Kent J, Kiekhaus M, Furey T, Brent M, Prange C, Schreiber K, Shapiro N, Bhat NK, Hopkins RF, Hsie F, Driscoll T, Soares MB, Casavant TL, Scheetz TE, Brown-stein MJ, Usdin TB, Toshiyuki S, Carninci P, Piao Y, Dudekula DB, Ko MS, Kawakami K, Suzuki Y, Sugano S, Gruber CE, Smith MR, Simmons B, Moore T, Waterman R, Johnson SL, Ruan Y, Wei CL, Mathavan S, Gunaratne PH, Wu J, Garcia AM, Hulyk SW, Fuh E, Yuan Y, Sneed A, Kowis C, Hodgson A, Muzny DM, McPherson J, Gibbs RA, Fahey J, Helton E, Ketteman M, Madan A, Rodrigues S, Sanchez A, Whiting M, Madari A, Young AC, Wetherby KD, Granite SJ, Kwong PN, Brinkley CP, Pearson RL, Bouffard GG, Blakesly RW, Green ED, Dickson MC, Rodriguez AC, Grimwood J, Schmutz J, Myers RM, Butterfield YS, Griffith M, Griffith OL, Krzywinski MI, Liao N, Morin R, Palmquist D, Petrescu AS, Skalska U, Smailus DE, Stott JM, Schnerch A, Schein JE, Jones SJ, Holt RA, Baross A, Marra MA, Clifton S, Makowski KA, Bosak S, Malek J: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Genome Res. 2004 Oct;14(10B):2121-7. 15489334
  5. SCHROEDER WA, SHELTON JR, SHELTON JB, CORMICK J, JONES RT: THE AMINO ACID SEQUENCE OF THE GAMMA CHAIN OF HUMAN FETAL HEMOGLOBIN. Biochemistry. 1963 Sep-Oct;2:992-1008. 14087393
  6. Lang KM, Spritz RA: Cloning specific complete polyadenylylated 3'-terminal cDNA segments. Gene. 1985;33(2):191-6. 2581851
  7. Burkard TR, Planyavsky M, Kaupe I, Breitwieser FP, Burckstummer T, Bennett KL, Superti-Furga G, Colinge J: Initial characterization of the human central proteome. BMC Syst Biol. 2011 Jan 26;5:17. doi: 10.1186/1752-0509-5-17. 21269460
  8. Zhou H, Di Palma S, Preisinger C, Peng M, Polat AN, Heck AJ, Mohammed S: Toward a comprehensive characterization of a human cancer cell phosphoproteome. J Proteome Res. 2013 Jan 4;12(1):260-71. doi: 10.1021/pr300630k. Epub 2012 Dec 18. 23186163
  9. Frier JA, Perutz MF: Structure of human foetal deoxyhaemoglobin. J Mol Biol. 1977 May 5;112(1):97-112. 881729
  10. Stegink LD, Meyer PD, Brummel MC: Human fetal hemoglobin F 1. Acetylation status. J Biol Chem. 1971 May 10;246(9):3001-7. 5554303
  11. Cauchi MN, Clegg JB, Weatherall DJ: Haemoglobin F(Malta): a new foetal haemoglobin variant with a high incidence in Maltese infants. Nature. 1969 Jul 19;223(5203):311-3. 5792729
  12. Carrell RW, Owen MC, Anderson R, Berry E: Haemoglobin F auckland G gamma 7 Asp leads to Asn: further evidence for multiple genes for the gamma chain. Biochim Biophys Acta. 1974 Oct 9;365(2):323-7. 4429671
  13. Brimhall B, Vedvick TS, Jones RT, Ahern E, Palomino E, Ahern V: Haemoglobin F Port Royal (alpha2G gamma2 125 Glu leads to Ala). Br J Haematol. 1974 Jun;27(2):313-8. 4846278
  14. Eng LI, Kamuzora H, Lehmann H: Haemoglobin F Malaysia: alpha 2, gamma 2 1(NA1) glycine--cysteine; 136 glycine. J Med Genet. 1974 Mar;11(1):25-30. 4837284
  15. Lee-Potter JP, Deacon-Smith RA, Simpkiss MJ, Kamuzora H, Lehmann H: A new cause of haemolytic anaemia in the newborn. A description of an unstable fetal haemoglobin: F Poole, alpha2-G-gamma2 130 trptophan yeilds glycine. J Clin Pathol. 1975 Apr;28(4):317-20. 1127124
  16. Brennan SO, Smith MB, Carrell RW: 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. Biochim Biophys Acta. 1977 Feb 22;490(2):452-5. 836882
  17. Ohta Y, Saito S, Fujita S, Wilson JB, Lam H, Huisman TH: Hb F-Meinohama or alpha 2 gamma 2 (5 Glu replaced by Gly; 75 Ile; 136 Gly). Hemoglobin. 1981;5(6):565-70. 6172403
  18. Honig GR, Koshy M, Schroeder WA, Shelton JB, Shelton JR: Hemoglobin F Lodz (G gamma I 44 Ser replaced by Arg). A newly identified variant from an American infant of Polish descent. Biochim Biophys Acta. 1982 Oct 5;707(2):213-6. 6814491
  19. Serjeant GR, Serjeant BE, Lehmann H, Dukes M, Robb L: Hb F Kingston (G gamma 55 [D6] Met leads to Arg). FEBS Lett. 1982 Dec 13;150(1):77-80. 6186522
  20. Shelton JB, Shelton JR, Espinueva Z, Huynh V, Schroeder WA, Powars D: Hemoglobin F-Caltech: alpha 2 G gamma 2 120Lys replaced by Gln. Hemoglobin. 1982;6(6):577-92. 6186635
  21. Nakatsuji T, Lam H, Wilson JB, Webber BB, Huisman TH: Hb F-Columbus-Ga or alpha 2 G gamma 2 94(FGl) Asp replaced by Asn. Hemoglobin. 1982;6(6):593-8. 6186636
  22. Nakatsuji T, Lam H, Huisman TH: Hb F-Kennestone or alpha 2G gamma 2 (EF1)77 His leads to Arg observed in a Caucasian baby. Hemoglobin. 1983;7(3):267-70. 6192110
  23. Nakatsuji T, Shimizu K, Huisman TH: 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. Biochim Biophys Acta. 1984 Sep 11;789(2):224-8. 6206897
  24. Zeng YT, Huang SZ, Nakatsuji T, Huisman TH: -G gamma A gamma-Thalassemia and gamma-chain variants in Chinese newborn babies. Am J Hematol. 1985 Mar;18(3):235-42. 2579547
  25. Chen S, Wilson JB, Webber BB, Huisman TH, Miwa S, Amenomori Y: 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. Hemoglobin. 1985;9(1):25-32. 2581919
  26. Hu HY, Ma MS: Hb F-Urumqi G gamma I22(B4)Asp----Gly: a new fetal hemoglobin variant found in a Uygur baby. Hemoglobin. 1986;10(1):15-20. 2420748
  27. de Pablos JM, Wilson JB, Kutlar A, Chen SS, Huisman TH: Hb F-Albaicin or G gamma 8(A5)Lys----Glu or Gln. Hemoglobin. 1986;10(6):655-9. 2435680
  28. Hayashi A, Wada Y, Matsuo T, Katakuse I, Matsuda H: Neonatal screening and mass-spectrometric analysis of hemoglobin variants in Japan. Acta Haematol. 1987;78(2-3):114-8. 3120456
  29. Kleman K, Lubin B, Wilson JB, Kutlar A, Webber BB, Huisman TH: Hb F-Oakland or alpha 2G gamma I2(26)(B8)Glu----Lys. Hemoglobin. 1987;11(2):181-3. 2442122
  30. Kutlar A, Kutlar F, Wilson JB, Webber BB, Gonzalez Redondo JM, Huisman TH: Hb F-Clarke or alpha 2G gamma 2(65)(E9)Lys----Asn. Hemoglobin. 1987;11(2):185-8. 2442123
  31. de Pablos JM, Clegg JB: Hb F-Granada or alpha 2G gamma (2)22(B4)Asp----Val: a new human fetal hemoglobin variant. Hemoglobin. 1988;12(4):405-7. 2459082
  32. Kutlar A, Kutlar F, Wilson JB, Webber BB, Hu H, Huisman TH: Hb F-Austell or alpha 2G gamma (2)40(C6)Arg----Lys. Hemoglobin. 1988;12(4):409-11. 2459083
  33. Glader BE, Zwerdling D, Kutlar F, Kutlar A, Wilson JB, Huisman TH: Hb F-M-Osaka or alpha 2G gamma 2(63)(E7)His----Tyr in a Caucasian male infant. Hemoglobin. 1989;13(7-8):769-73. 2483933
  34. Priest JR, Watterson J, Jones RT, Faassen AE, Hedlund BE: Mutant fetal hemoglobin causing cyanosis in a newborn. Pediatrics. 1989 May;83(5):734-6. 2470017
  35. Plaseska D, Li HJ, Wilson JB, Kutlar F, Kutlar A, Huisman TH, Kulpa J: Hb F-Brooklyn or alpha 2G gamma 2(66)(E10)Lys----Gln. Hemoglobin. 1990;14(2):213-6. 1703138
  36. Harano T, Harano K, Doi K, Ueda S, Imai K, Ohba Y, Kutlar F, Huisman TH: Hb F-Onoda or alpha 2G gamma 2(146)(HC3)His----Tyr, a newly discovered fetal hemoglobin variant in a Japanese newborn. Hemoglobin. 1990;14(2):217-22. 1703139
  37. Plaseska D, Wilson JB, Kutlar F, Font L, Baiget M, Huisman TH: Hb F-Catalonia or alpha 2G gamma(2)15(A12)Trp----Arg. Hemoglobin. 1990;14(5):511-6. 1706691
  38. Plaseska D, Kutlar F, Wilson JB, Fei YJ, Huisman TH: Hb F-Charlotte, an A gamma variant with a threonine residue in position gamma 75 and a glycine residue in position gamma 136. Hemoglobin. 1990;14(6):617-25. 1714434
  39. Qualtieri A, Crescibene L, Bagala A, De Marco EV, Bria M, Brancati C: Hb F-Cosenza or G gamma 25(B7)Gly----Glu: a new fast-moving fetal hemoglobin variant. Hemoglobin. 1991;15(6):509-15. 1726095
  40. Pobedimskaya DD, Molchanova TP, Huisman TH, Harding SR, Bakanec R: Hb F-Saskatoon or alpha 2G gamma (2)21(B3)Glu-->Lys observed in a North American Indian newborn. Hemoglobin. 1993 Dec;17(6):547-9. 8144355
  41. Plaseska D, Panovska-Popovska S, Lazarevski M, Efremov GD: Hb F-Macedonia-II [G gamma 104(G6)Lys-->Asn]: a new gamma chain variant. Hemoglobin. 1994 Nov;18(6):373-82. 7713741
  42. Kohli-Kumar M, Zwerdling T, Rucknagel DL: Hemoglobin F-Cincinnati, alpha 2G gamma 2 41(C7) Phe-->Ser in a newborn with cyanosis. Am J Hematol. 1995 May;49(1):43-7. 7741137
  43. Abbes S, Fitzgerald PA, Varady E, Girot R, Pic P, Blouquit Y, Ducrocq R, Drupt F, Wajcman H: 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]. Hemoglobin. 1995 May-Jul;19(3-4):173-82. 7558873
  44. de Pablos Gallego JM, Gu LH, Leonova JYe, Huisman TH: Hb F-Veleta or alpha 2 G gamma(2)40(C6)Arg-->Gly. Hemoglobin. 1995;19(6):407-11. 8718700
  45. Gu LH, Oner C, Huisman TH: 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. Hemoglobin. 1995;19(6):413-8. 8718701
  46. Papadakis MN, Patrinos GP, Drakoulakou O, Loutradi-Anagnostou A: HbF-Lesvos: an HbF variant due to a novel G gamma mutation (:G gamma 75 ATA-->ACA) detected in a Greek family. Hum Genet. 1996 Feb;97(2):260-2. 8566966
  47. Manca L, Cherchi L, De Rosa MC, Giardina B, Masala B: A new, electrophoretically silent, fetal hemoglobin variant: Hb F-Calabria [Ggamma118(GH1)Phe-->Leu]. Hemoglobin. 2000 Feb;24(1):37-44. 10722114
  48. Wajcman H, Borensztajn K, Riou J, Prome D, Hurtrel D, Bardakdjian J, Lena-Russo D, Amouroux I, Ducrocq R: Two new Ggamma chain variants: Hb F-clamart [gamma17(A14)Lys-->Asn] and Hb F-Ouled Rabah [gamma19(B1)Asn-->Lys]. Hemoglobin. 2000 Feb;24(1):45-52. 10722115
  49. Wajcman H, Yapo AP, Riou J, Prome D, Richelme-David S, Hurtrel D, Bardakdjian-Michau J: A new Ggamma chain variant: Hb F-Coignieres [gamma75(E19)Ile-->Val]. Hemoglobin. 2001 Nov;25(4):425-8. 11791877
  50. Van den Driessche M, Moerman J, Moens M, Van Eldere S, Derclaye I, Philippe M: Severe hereditary haemolytic anaemia in a Caucasian newborn: a new fetal haemoglobin variant Hb F-Bonheiden ((G)gamma 38(C4) Thr-->Pro). Eur J Pediatr. 2005 Apr;164(4):261-2. Epub 2005 Jan 12. 15645283
  51. Lacan P, Burnichon N, Becchi M, Zanella-Cleon I, Aubry M, Couprie N, Francina A: A new G(gamma) chain variant: Hb F-Bron [gamma20(B2)val-->Ala]. Hemoglobin. 2005;29(4):301-5. 16370494
  52. Dainer E, Shell R, Miller R, Atkin JF, Pastore M, Kutlar A, Zhuang L, Holley L, Davis DH, Kutlar F: Neonatal cyanosis due to a novel fetal hemoglobin: Hb F-Circleville [Ggamma63(E7)His-->Leu, CAT>CTT]. Hemoglobin. 2008;32(6):596-600. doi: 10.1080/03630260802507915. 19065339
  53. Crowley MA, Mollan TL, Abdulmalik OY, Butler AD, Goodwin EF, Sarkar A, Stolle CA, Gow AJ, Olson JS, Weiss MJ: A hemoglobin variant associated with neonatal cyanosis and anemia. N Engl J Med. 2011 May 12;364(19):1837-43. doi: 10.1056/NEJMoa1013579. 21561349
  54. Saller E, Kohne E, Dutly F, Frischknecht H: A new (G)gamma-globin variant causing low oxygen affinity: Hb F-Brugine/Feldkirch [(G)gamma105(G7)Leu-->His; HBG2: c.317T>A]. Hemoglobin. 2014;38(2):84-7. doi: 10.3109/03630269.2013.870079. Epub 2014 Feb 7. 24502349