P69892 (HBG2_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Hemoglobin subunit gamma-2

Alternative name(s):
Gamma-2-globin
Hb F Ggamma
Hemoglobin gamma-2 chain
Hemoglobin gamma-G chain

Gene names

Name:

HBG2

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	147 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is further processed into a mature form.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	Gamma chains make up the fetal hemoglobin F, in combination with alpha chains.
Subunit structure	Heterotetramer of two alpha chains and two gamma chains in fetal hemoglobin (Hb F).
Tissue specificity	Red blood cells.
Developmental stage	Expressed until four or five weeks after birth.
Post-translational modification	Acetylation of Gly-2 converts Hb F to the minor Hb F1.
Involvement in disease	Cyanosis transient neonatal (TNCY) [MIM:613977]: A disorder characterized by cyanosis in the fetus and neonate, due to a defect in the fetal hemoglobin chain which has reduced affinity for oxygen. Some patients develop anemia resulting from increased destruction of red cells containing abnormal or unstable hemoglobin. The cyanosis resolves spontaneously by 5 to 6 months of age or earlier, as the adult beta-globin chain is produced and replaces the fetal gamma-globin chain. Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.34 Ref.35 Ref.43 Ref.53 Ref.54
Sequence similarities	Belongs to the globin family.
Sequence caution	The sequence AAB50159.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.

Ontologies

Keywords
Biological process	Oxygen transport Transport
Coding sequence diversity	Polymorphism
Disease	Disease mutation
Ligand	Heme Iron Metal-binding
PTM	Acetylation
Technical term	3D-structure Complete proteome Direct protein sequencing Reference proteome
Gene Ontology (GO)
Biological_process	blood coagulation Traceable author statement. Source: Reactome
Cellular_component	cytosol Traceable author statement. Source: Reactome hemoglobin complex Inferred from electronic annotation. Source: InterPro
Molecular_function	heme binding Inferred from electronic annotation. Source: InterPro iron ion binding Inferred from electronic annotation. Source: InterPro oxygen binding Inferred from electronic annotation. Source: InterPro oxygen transporter activity Inferred from electronic annotation. Source: UniProtKB-KW
Complete GO annotation...

Sequence annotation (Features)

Feature key

Position(s)

Length

Description

Graphical view

Feature identifier

Molecule processing

Initiator methionine

1

1

Removed Ref.6 Ref.7

Chain

2 – 147

146

Hemoglobin subunit gamma-2

PRO_0000053254

Sites

Metal binding

64

1

Iron (heme distal ligand)

Metal binding

93

1

Iron (heme proximal ligand)

Amino acid modifications

Modified residue

2

1

N-acetylglycine; in form Hb F1 Ref.11

Natural variations

Natural variant

2

1

G → C in Malaysia. Ref.15

VAR_003123

Natural variant

6

1

E → G in Meinohama. Ref.18

VAR_003126

Natural variant

8

1

D → N in Auckland. Ref.13

VAR_003129

Natural variant

9

1

K → E in Albaicin. Ref.28

VAR_020643

Natural variant

9

1

K → Q in Albaicin. Ref.28

VAR_020644

Natural variant

13

1

T → R in Heather.

VAR_020645

Natural variant

16

1

W → R in Catalonia. Ref.38

VAR_003131

Natural variant

17

1

G → R in Melbourne. Ref.17

VAR_003132

Natural variant

18

1

K → N in Clamart. Ref.49

VAR_020646

Natural variant

20

1

N → K in Ouled Rabah. Ref.49

VAR_020647

Natural variant

21

1

V → A in Bron. Ref.52

VAR_030496

Natural variant

22

1

E → K in Saskatoon. Ref.41

VAR_003133

Natural variant

22

1

E → Q in Fuchu. Ref.29

VAR_003134

Natural variant

23

1

D → G in Urumqi. Ref.27 Ref.45

VAR_020648

Natural variant

23

1

D → V in Granada. Ref.32

VAR_003136

Natural variant

26

1

G → E in Cosenza. Ref.40

VAR_003137

Natural variant

27

1

E → K in Oakland. Ref.30

VAR_003139

Natural variant

35

1

V → I in Tokyo. Ref.26

VAR_003140

Natural variant

39

1

T → P in Bonheiden; causes severe hereditary hemolytic anemia. Ref.51

VAR_030497

Natural variant

41

1

R → G in Veleta.

VAR_003144

Natural variant

41

1

R → K in Austell. Ref.33

VAR_020649

Natural variant

42

1

F → S in TNCY; hemoglobin Cincinnati. Ref.43

VAR_003146

Natural variant

45

1

S → R in Lodz. Ref.19

VAR_003148

Natural variant

56

1

M → R in Kingston. Ref.20

VAR_003150

Natural variant

60

1

K → E in Emirates. Ref.44

VAR_003151

Natural variant

60

1

K → Q in Sacromonte. Ref.44

VAR_003152

Natural variant

64

1

H → L in TNCY; hemoglobin M-Circleville. Ref.3 Ref.53

VAR_025336

Natural variant

64

1

H → Y in TNCY; hemoglobin Osaka; the presence of a tyrosine causes the formation of a covalent link with heme iron, so that the iron is stabilized in the ferric form; when this occurs methemoglobin is formed, oxygen can no longer bind to heme and cyanosis occurs. Ref.34 Ref.53

VAR_003154

Natural variant

66

1

K → N in Clarke. Ref.31

VAR_003155

Natural variant

67

1

K → Q in Brooklyn. Ref.36

VAR_003157

Natural variant

67

1

K → R in Shanghai. Ref.25

VAR_003156

Natural variant

68

1

V → M in TNCY; hemoglobin Toms River; the side chain of methionine decreases both the affinity of oxygen for binding to the mutant hemoglobin subunit via steric hindrance and the rate at which it does so; the mutant methionine is converted to aspartic acid post-translationally. Ref.54

VAR_065950

Natural variant

73

1

G → R in Minoo. Ref.29

VAR_020650

Natural variant

76

1

I → T in LesVos/Waynesboro/Charlotte. Ref.39 Ref.46 Ref.47
Corresponds to variant rs1061234 [ dbSNP | Ensembl ].

VAR_020651

Natural variant

76

1

I → V in Coigneres. Ref.50

VAR_030498

Natural variant

78

1

H → R in Kennestone. Ref.23

VAR_003162

Natural variant

81

1

D → N in Marietta.

VAR_020652

Natural variant

93

1

H → Y in TNCY; hemoglobin Fort Ripley. Ref.35
Corresponds to variant rs35103459 [ dbSNP | Ensembl ].

VAR_003166

Natural variant

95

1

D → N in Columbus-Ga. Ref.22

VAR_003167

Natural variant

102

1

E → K in La Grange. Ref.24

VAR_003169

Natural variant

105

1

K → N in Macedonia-II. Ref.42

VAR_003170

Natural variant

118

1

H → R in Malta-1. Ref.12

VAR_003171

Natural variant

119

1

F → L in Calabria. Ref.48

VAR_015740

Natural variant

121

1

K → Q in Caltech. Ref.21
Corresponds to variant rs34703519 [ dbSNP | Ensembl ].

VAR_003172

Natural variant

122

1

E → K in Carlton. Ref.17

VAR_020653

Natural variant

126

1

E → A in Port-Royal. Ref.14

VAR_003174

Natural variant

131

1

W → G in Poole; unstable. Ref.16

VAR_003176

Natural variant

147

1

H → Y in Onoda; O(2) affinity up. Ref.37
Corresponds to variant rs34807671 [ dbSNP | Ensembl ].

VAR_003179

Secondary structure

1

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

147

Helix Strand Turn

Details...

Helix

6 – 15

10

Helix

16 – 18

3

Helix

21 – 35

15

Helix

40 – 42

3

Helix

52 – 56

5

Helix

59 – 76

18

Turn

77 – 80

4

Helix

82 – 95

14

Helix

102 – 119

18

Helix

120 – 122

3

Helix

125 – 143

19

Sequences

	Sequence		Length	Mass (Da)
	P69892 [UniParc]. Last modified January 23, 2007. Version 2. Checksum: 8FCDC4441B416DDE	FASTA	147	16,126
	10 20 30 40 50 60 MGHFTEEDKA TITSLWGKVN VEDAGGETLG RLLVVYPWTQ RFFDSFGNLS SASAIMGNPK 70 80 90 100 110 120 VKAHGKKVLT SLGDAIKHLD DLKGTFAQLS ELHCDKLHVD PENFKLLGNV LVTVLAIHFG 130 140 KEFTPEVQAS WQKMVTGVAS ALSSRYH

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Human fetal G gamma- and A gamma-globin genes: complete nucleotide sequences suggest that DNA can be exchanged between these duplicated genes." Slightom J.L., Blechl A.E., Smithies O. Cell 21:627-638(1980) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
[2]	"Nucleotide sequence of human G gamma globin messenger RNA." Cavallesco C., Forget B.G., Deriel J.K., Wilson L.B., Wilson J.T., Weissman S.M. Gene 12:215-221(1980) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA].
[3]	"A new G-gamma globin chain variant (His63Leu), hemoglobin M-Circleville found in a Caucasian family." Kutlar F., Shell R.D., Elam D., Holley L., Nechtman J., Kutlar A. Submitted (JUN-2004) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [MRNA], VARIANT M-CIRCLEVILLE LEU-64.
[4]	"Complete sequencing and characterization of 21,243 full-length human cDNAs." 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 T.-O., 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. Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. Tissue: Brain.
[5]	"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. Tissue: Bone marrow, Lung and Placenta.
[6]	"The amino acid sequence of the gamma chain of human fetal hemoglobin." Schroeder W.A., Shelton J.R., Shelton J.B., Cormick J., Jones R.T. Biochemistry 2:992-1008(1963) [PubMed] [Europe PMC] [Abstract] Cited for: PROTEIN SEQUENCE OF 2-147.
[7]	Lubec G., Afjehi-Sadat L., Chen W.-Q., Sun Y. Submitted (DEC-2008) to UniProtKB Cited for: PROTEIN SEQUENCE OF 2-60; 67-77 AND 84-147, MASS SPECTROMETRY. Tissue: Brain, Cajal-Retzius cell and Fetal brain cortex.
[8]	"Cloning specific complete polyadenylylated 3'-terminal cDNA segments." Lang K.M., Spritz R.A. Gene 33:191-196(1985) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 122-147.
[9]	"Initial characterization of the human central proteome." Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J. BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract] Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
[10]	"Structure of human foetal deoxyhaemoglobin." Frier J.A., Perutz M.F. J. Mol. Biol. 112:97-112(1977) [PubMed] [Europe PMC] [Abstract] Cited for: X-RAY CRYSTALLOGRAPHY (2.5 ANGSTROMS) OF HETERODIMER WITH ALPHA CHAIN.
[11]	"Human fetal hemoglobin F 1. Acetylation status." Stegink L.D., Meyer P.D., Brummel M.C. J. Biol. Chem. 246:3001-3007(1971) [PubMed] [Europe PMC] [Abstract] Cited for: ACETYLATION AT GLY-2.
[12]	"Haemoglobin F(Malta): a new foetal haemoglobin variant with a high incidence in Maltese infants." Cauchi M.N., Clegg J.B., Weatherall D.J. Nature 223:311-313(1969) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT MALTA-1 ARG-118.
[13]	"Haemoglobin F Auckland G gamma 7 Asp leads to Asn: further evidence for multiple genes for the gamma chain." Carrell R.W., Owen M.C., Anderson R., Berry E. Biochim. Biophys. Acta 365:323-327(1974) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT AUCKLAND ASN-8.
[14]	"Haemoglobin F Port Royal (alpha2G gamma2 125 Glu leads to Ala)." Brimhall B., Vedvick T.S., Jones R.T., Ahern E., Palomino E., Ahern V. Br. J. Haematol. 27:313-318(1974) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT PORT-ROYAL ALA-126.
[15]	"Haemoglobin F Malaysia: alpha 2, gamma 2 1(NA1) glycine-->cysteine; 136 glycine." Lie-Injo L.E., Kamuzora H., Lehmann H. J. Med. Genet. 11:25-30(1974) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT MALAYSIA CYS-2.
[16]	"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." Lee-Potter J.P., Deacon-Smith R.A., Simpkiss M.J., Kamuzora H., Lehmann H. J. Clin. Pathol. 28:317-320(1975) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT POOLE GLY-131.
[17]	"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." Brennan S.O., Smith M.B., Carrell R.W. Biochim. Biophys. Acta 490:452-455(1977) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS MELBOURNE ARG-17 AND CARLTON LYS-122.
[18]	"Hb F-Meinohama or alpha 2 gamma 2 (5 Glu replaced by Gly; 75 Ile; 136 Gly)." Ohta Y., Saito S., Fujita S., Wilson J.B., Lam H., Huisman T.H.J. Hemoglobin 5:565-570(1981) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT MEINOHAMA GLY-6.
[19]	"Hemoglobin F Lodz (G gamma I 44 Ser replaced by Arg). A newly identified variant from an American infant of Polish descent." Honig G.R., Koshy M., Schroeder W.A., Shelton J.B., Shelton J.R. Biochim. Biophys. Acta 707:213-216(1982) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT LODZ ARG-45.
[20]	"Hb F Kingston (G gamma 55 [D6] Met leads to Arg)." Serjeant G.R., Serjeant B.E., Lehmann H., Dukes M., Robb L. FEBS Lett. 150:77-80(1982) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT KINGSTON ARG-56.
[21]	"Hemoglobin F-Caltech: alpha 2 G gamma 2 120Lys replaced by Gln." Shelton J.B., Shelton J.R., Espinueva Z., Huynh V., Schroeder W.A., Powars D. Hemoglobin 6:577-592(1982) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT CALTECH GLN-121.
[22]	"Hb F-Columbus-Ga or alpha 2 G gamma 2 94(FGl) Asp replaced by Asn." Nakatsuji T., Lam H., Wilson J.B., Webber B.B., Huisman T.H.J. Hemoglobin 6:593-598(1982) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT COLUMBUS-GA ASN-95.
[23]	"Hb F-Kennestone or alpha 2G gamma 2 (EF1)77 His leads to Arg observed in a Caucasian baby." Nakatsuji T., Lam H., Huisman T.H.J. Hemoglobin 7:267-270(1983) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT KENNESTONE ARG-78.
[24]	"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." Nakatsuji T., Shimizu K., Huisman T.H.J. Biochim. Biophys. Acta 789:224-228(1984) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT LA GRANGE LYS-102.
[25]	"-G gamma A gamma-thalassemia and gamma-chain variants in Chinese newborn babies." Zeng Y.T., Huang S.Z., Nakatsuji T., Huisman T.H.J. Am. J. Hematol. 18:235-242(1985) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT SHANGHAI ARG-67.
[26]	"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." Chen S.S., Wilson J.B., Webber B.B., Huisman T.H.J., Miwa S., Amenomori Y. Hemoglobin 9:25-32(1985) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT TOKYO ILE-35.
[27]	"Hb F-Urumqi G gamma I22(B4)Asp-->Gly: a new fetal hemoglobin variant found in a Uygur baby." Hu H.Y., Ma M.S. Hemoglobin 10:15-20(1986) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT URUMQI GLY-23.
[28]	"Hb F-Albaicin or G gamma 8(A5)Lys-->Glu or Gln." de Pablos J.M., Wilson J.B., Kutlar A., Chen S.S., Huisman T.H.J. Hemoglobin 10:655-659(1986) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS ALBAICIN GLU-9 AND GLN-9.
[29]	"Neonatal screening and mass-spectrometric analysis of hemoglobin variants in Japan." Hayashi A., Wada Y., Matsuo T., Katakuse I., Matsuda H. Acta Haematol. 78:114-118(1987) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS FUCHU GLN-22 AND MINOO ARG-73.
[30]	"Hb F-Oakland or alpha 2G gamma I2(26)(B8)Glu-->Lys." Kleman K., Lubin B., Wilson J.B., Kutlar A., Webber B.B., Huisman T.H.J. Hemoglobin 11:181-183(1987) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT OAKLAND LYS-27.
[31]	"Hb F-Clarke or alpha 2G gamma 2(65)(E9)Lys-->Asn." Kutlar A., Kutlar F., Wilson J.B., Webber B.B., Gonzalez Redondo J.M., Huisman T.H.J. Hemoglobin 11:185-188(1987) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT CLARKE ASN-66.
[32]	"Hb F-Granada or alpha 2G gamma (2)22(B4)Asp-->Val: a new human fetal hemoglobin variant." de Pablos J.M., Clegg J.B. Hemoglobin 12:405-407(1988) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT GRANADA VAL-23.
[33]	"Hb F-Austell or alpha 2G gamma (2)40(C6)Arg-->Lys." Kutlar A., Kutlar F., Wilson J.B., Webber B.B., Hu H., Huisman T.H.J. Hemoglobin 12:409-411(1988) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT AUSTELL LYS-41.
[34]	"Hb F-M-Osaka or alpha 2G gamma 2(63)(E7)His-->Tyr in a Caucasian male infant." Glader B.E., Zwerdling D., Kutlar F., Kutlar A., Wilson J.B., Huisman T.H.J. Hemoglobin 13:769-773(1989) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT TNCY TYR-64.
[35]	"Mutant fetal hemoglobin causing cyanosis in a newborn." Priest J.R., Watterson J., Jones R.T., Faassen A.E., Hedlund B.E. Pediatrics 83:734-736(1989) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT TNCY TYR-93.
[36]	"Hb F-Brooklyn or alpha 2G gamma 2(66)(E10)Lys-->Gln." Plaseska D., Li H.-J., Wilson J.B., Kutlar F., Kutlar A., Huisman T.H.J., Kulpa J. Hemoglobin 14:213-216(1990) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT BROOKLYN GLN-67.
[37]	"Hb F-Onoda or alpha 2G gamma 2(146)(HC3)His-->Tyr, a newly discovered fetal hemoglobin variant in a Japanese newborn." Harano T., Harano K., Doi K., Ueda S., Imai K., Ohba Y., Kutlar F., Huisman T.H.J. Hemoglobin 14:217-222(1990) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT ONODA TYR-147.
[38]	"Hb F-Catalonia or alpha 2G gamma(2)15(A12)Trp-->Arg." Plaseska D., Wilson J.B., Kutlar F., Font L., Baiget M., Huisman T.H.J. Hemoglobin 14:511-516(1990) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT CATALONIA ARG-16.
[39]	"Hb F-Charlotte, an A gamma variant with a threonine residue in position gamma 75 and a glycine residue in position gamma 136." Plaseska D., Kutlar F., Wilson J.B., Fei Y.J., Huisman T.H.J. Hemoglobin 14:617-625(1990) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT CHARLOTTE THR-76.
[40]	"Hb F-Cosenza or G gamma 25(B7)Gly-->Glu: a new fast-moving fetal hemoglobin variant." Qualtieri A., Crescibene L., Bagala A., de Marco E.V., Bria M., Brancati C. Hemoglobin 15:509-515(1991) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT COSENZA GLU-26.
[41]	"Hb F-Saskatoon or alpha 2G gamma (2)21(B3)Glu-->Lys observed in a North American indian newborn." Pobedimskaya D.D., Molchanova T.P., Huisman T.H.J., Harding S.R., Bakanec R. Hemoglobin 17:547-549(1993) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT SASKATOON LYS-22.
[42]	"Hb F-Macedonia-II [G gamma 104(G6)Lys-->Asn]: a new gamma chain variant." Plaseska D., Panovska-Popovska S., Lazarevski M., Efremov G.D. Hemoglobin 18:373-382(1994) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT MACEDONIA-II ASN-105.
[43]	"Hemoglobin F-Cincinnati, alpha 2G gamma 2 41(C7) Phe-->Ser in a newborn with cyanosis." Kohli-Kumar M., Zwerdling T., Rucknagel D.L. Am. J. Hematol. 49:43-47(1995) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT TNCY SER-42.
[44]	"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]." Abbes S., Fitzgerald P.A., Varady E., Girot R., Pic P., Blouquit Y., Ducrocq R., Drupt F., Wajcman H. Hemoglobin 19:173-182(1995) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS EMIRATES GLU-60 AND SACROMONTE GLN-60.
[45]	"Hb F-Veleta or alpha 2 G gamma(2)40(C6)Arg-->Gly." de Pablos Gallego J.M., Gu L.H., Leonova J.Y., Huisman T.H.J. Hemoglobin 19:407-411(1995) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT VELETA GLY-23.
[46]	"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." Gu L.H., Oner C., Huisman T.H.J. Hemoglobin 19:413-418(1995) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT WAYNESBORO THR-76.
[47]	"HbF-Lesvos: an HbF variant due to a novel G gamma mutation (G gamma 75 ATA-->ACA) detected in a Greek family." Papadakis M.N., Patrinos G.P., Drakoulakou O., Loutradi-Anagnostou A. Hum. Genet. 97:260-262(1996) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT LESVOS THR-76.
[48]	"A new, electrophoretically silent, fetal hemoglobin variant: Hb F-Calabria Ggamma118(GH1)Phe-->Leu." Manca L., Cherchi L., De Rosa M.C., Giardina B., Masala B. Hemoglobin 24:37-44(2000) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT CALABRIA LEU-119.
[49]	"Two new Ggamma chain variants: Hb F-Clamart [gamma17(A14)Lys-->Asn] and Hb F-Ouled Rabah [gamma19(B1)Asn-->Lys]." Wajcman H., Borensztajn K., Riou J., Prome D., Hurtrel D., Bardakdjian J., Lena-Russo D., Amouroux I., Ducrocq R. Hemoglobin 24:45-52(2000) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS CLAMART ASN-18 AND OULED RABAH LYS-20.
[50]	"A new Ggamma chain variant: Hb F-Coignieres [gamma75(E19)Ile-->Val]." Wajcman H., Yapo A.P., Riou J., Prome D., Richelme-David S., Hurtrel D., Bardakdjian-Michau J. Hemoglobin 25:425-428(2001) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT COIGNERES VAL-76.
[51]	"Severe hereditary haemolytic anaemia in a Caucasian newborn: a new fetal haemoglobin variant Hb F-Bonheiden ((G)gamma 38(C4) Thr-->Pro)." Van den Driessche M., Moerman J., Moens M., Van Eldere S., Derclaye I., Philippe M. Eur. J. Pediatr. 164:261-262(2005) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT BONHEIDEN PRO-39.
[52]	"A new G(gamma) chain variant: Hb F-Bron [gamma20(B2)Val-->Ala]." Lacan P., Burnichon N., Becchi M., Zanella-Cleon I., Aubry M., Couprie N., Francina A. Hemoglobin 29:301-305(2005) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT BRON ALA-21.
[53]	"Neonatal cyanosis due to a novel fetal hemoglobin: Hb F-Circleville [Ggamma63(E7)His-->Leu, CAT>CTT]." Dainer E., Shell R., Miller R., Atkin J.F., Pastore M., Kutlar A., Zhuang L., Holley L., Davis D.H., Kutlar F. Hemoglobin 32:596-600(2008) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT TNCY LEU-64, CHARACTERIZATION OF VARIANT TNCY TYR-64.
[54]	"A hemoglobin variant associated with neonatal cyanosis and anemia." Crowley M.A., Mollan T.L., Abdulmalik O.Y., Butler A.D., Goodwin E.F., Sarkar A., Stolle C.A., Gow A.J., Olson J.S., Weiss M.J. N. Engl. J. Med. 364:1837-1843(2011) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT TNCY MET-68, CHARACTERIZATION OF VARIANT TNCY MET-68.
+	Additional computationally mapped references.

Web resources

HbVar

Human hemoglobin variants and thalassemias

Cross-references

Sequence databases

EMBL
GenBank
DDBJ

M91036 Genomic DNA. Translation: AAB59428.1.
M91037 Genomic DNA. Translation: AAA58492.1.
U01317 Genomic DNA. Translation: AAA16331.1.
V00515 Genomic DNA. Translation: CAA23773.1.
M15386 mRNA. Translation: AAB50159.1. Different initiation.
AY662983 Genomic DNA. Translation: AAT98611.1.
AK290492 mRNA. Translation: BAF83181.1.
BC010914 mRNA. Translation: AAH10914.1.
BC029387 mRNA. Translation: AAH29387.1.
BC130457 mRNA. Translation: AAI30458.1.
BC130459 mRNA. Translation: AAI30460.1.
M11427 mRNA. Translation: AAA35957.1.

IPI

IPI00554676.

PIR

HGHUA. A90803.

RefSeq

NP_000175.1. NM_000184.2.

UniGene

Hs.302145.
Hs.702189.

3D structure databases

PDBe
RCSB PDB
PDBj

Entry	Method	Resolution (Å)	Chain	Positions	PDBsum
1FDH	X-ray	2.50	G/H	2-147	[»]

ProteinModelPortal

P69892.

ModBase

Search...

Protein-protein interaction databases

IntAct

P69892. 2 interactions.

MINT

MINT-1200269.

STRING

9606.ENSP00000338082.

PTM databases

PhosphoSite

P69892.

Polymorphism databases

DMDM

56749861.

Proteomic databases

PaxDb

P69892.

PRIDE

P69892.

Protocols and materials databases

StructuralBiologyKnowledgebase

Search...

Genome annotation databases

Ensembl

ENST00000336906; ENSP00000338082; ENSG00000196565.
ENST00000380259; ENSP00000369609; ENSG00000196565.

GeneID

3048.

KEGG

hsa:3048.

UCSC

uc001maj.1. human.

Organism-specific databases

CTD

3048.

GeneCards

GC11M005274.

HGNC

HGNC:4832. HBG2.

HPA

CAB016143.

MIM

142250. gene.
613977. phenotype.

neXtProt

NX_P69892.

Orphanet

280615. Hemoglobinopathy Toms River.
46532. Hereditary persistence of fetal hemoglobin - beta-thalassemia.
251380. Hereditary persistence of fetal hemoglobin - sickle cell disease.

PharmGKB

PA29207.

GenAtlas

Search...

Phylogenomic databases

eggNOG

NOG331950.

HOVERGEN

HBG009709.

KO

K13824.

OrthoDB

EOG4THVVF.

PhylomeDB

P69892.

Enzyme and pathway databases

Reactome

REACT_604. Hemostasis.

Gene expression databases

ArrayExpress

P69892.

Bgee

P69892.

CleanEx

HS_HBG2.

Genevestigator

P69892.

GermOnline

ENSG00000196565. Homo sapiens.

Family and domain databases

Gene3D

1.10.490.10. 1 hit.

InterPro

IPR000971. Globin.
IPR009050. Globin-like.
IPR012292. Globin_dom.
IPR002337. Haemoglobin_b.
[Graphical view]

PANTHER

PTHR11442:SF7. PTHR11442:SF7. 1 hit.

Pfam

PF00042. Globin. 1 hit.
[Graphical view]

PRINTS

PR00814. BETAHAEM.

SUPFAM

SSF46458. Globin_like. 1 hit.

PROSITE

PS01033. GLOBIN. 1 hit.
[Graphical view]

ProtoNet

Search...

Other

ChiTaRS

HBG2. human.

EvolutionaryTrace

P69892.

GenomeRNAi

3048.

NextBio

12067.

SOURCE

Search...

Entry information

Entry name

HBG2_HUMAN

Accession

Primary (citable) accession number: P69892
Secondary accession number(s): A8MZE0 , P02096, P62027, Q14491, Q68NH9, Q96FH6, Q96FH7

Entry history

Integrated into UniProtKB/Swiss-Prot:	July 21, 1986
Last sequence update:	January 23, 2007
Last modified:	May 1, 2013
This is version 100 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.