Skip Header

You are using a version of Internet Explorer that may not display all features of this website. Please upgrade to a modern browser.
Contribute Send feedback
Read comments (?) or add your own

P69892 (HBG2_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 110. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (6) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended 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
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length147 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence 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). Ref.10

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. Ref.11

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.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Initiator methionine11Removed Ref.6 Ref.7
Chain2 – 147146Hemoglobin subunit gamma-2
PRO_0000053254

Sites

Metal binding641Iron (heme distal ligand)
Metal binding931Iron (heme proximal ligand)

Amino acid modifications

Modified residue21N-acetylglycine; in form Hb F1 Ref.11

Natural variations

Natural variant21G → C in Malaysia. Ref.15
VAR_003123
Natural variant61E → G in Meinohama. Ref.18
VAR_003126
Natural variant81D → N in Auckland. Ref.13
VAR_003129
Natural variant91K → E in Albaicin. Ref.28
VAR_020643
Natural variant91K → Q in Albaicin. Ref.28
VAR_020644
Natural variant131T → R in Heather.
VAR_020645
Natural variant161W → R in Catalonia. Ref.38
VAR_003131
Natural variant171G → R in Melbourne. Ref.17
VAR_003132
Natural variant181K → N in Clamart. Ref.49
VAR_020646
Natural variant201N → K in Ouled Rabah. Ref.49
VAR_020647
Natural variant211V → A in Bron. Ref.52
VAR_030496
Natural variant221E → K in Saskatoon. Ref.41
VAR_003133
Natural variant221E → Q in Fuchu. Ref.29
VAR_003134
Natural variant231D → G in Urumqi. Ref.27 Ref.45
VAR_020648
Natural variant231D → V in Granada. Ref.32
VAR_003136
Natural variant261G → E in Cosenza. Ref.40
VAR_003137
Natural variant271E → K in Oakland. Ref.30
VAR_003139
Natural variant351V → I in Tokyo. Ref.26
VAR_003140
Natural variant391T → P in Bonheiden; causes severe hereditary hemolytic anemia. Ref.51
VAR_030497
Natural variant411R → G in Veleta.
VAR_003144
Natural variant411R → K in Austell. Ref.33
VAR_020649
Natural variant421F → S in TNCY; hemoglobin Cincinnati. Ref.43
VAR_003146
Natural variant451S → R in Lodz. Ref.19
VAR_003148
Natural variant561M → R in Kingston. Ref.20
VAR_003150
Natural variant601K → E in Emirates. Ref.44
VAR_003151
Natural variant601K → Q in Sacromonte. Ref.44
VAR_003152
Natural variant641H → L in TNCY; hemoglobin M-Circleville. Ref.3 Ref.53
VAR_025336
Natural variant641H → 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 variant661K → N in Clarke. Ref.31
VAR_003155
Natural variant671K → Q in Brooklyn. Ref.36
VAR_003157
Natural variant671K → R in Shanghai. Ref.25
VAR_003156
Natural variant681V → 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 variant731G → R in Minoo. Ref.29
VAR_020650
Natural variant761I → T in LesVos/Waynesboro/Charlotte. Ref.39 Ref.46 Ref.47
Corresponds to variant rs1061234 [ dbSNP | Ensembl ].
VAR_020651
Natural variant761I → V in Coigneres. Ref.50
VAR_030498
Natural variant781H → R in Kennestone. Ref.23
VAR_003162
Natural variant811D → N in Marietta.
VAR_020652
Natural variant931H → Y in TNCY; hemoglobin Fort Ripley. Ref.35
Corresponds to variant rs35103459 [ dbSNP | Ensembl ].
VAR_003166
Natural variant951D → N in Columbus-Ga. Ref.22
VAR_003167
Natural variant1021E → K in La Grange. Ref.24
VAR_003169
Natural variant1051K → N in Macedonia-II. Ref.42
VAR_003170
Natural variant1181H → R in Malta-1. Ref.12
VAR_003171
Natural variant1191F → L in Calabria. Ref.48
VAR_015740
Natural variant1211K → Q in Caltech. Ref.21
Corresponds to variant rs34703519 [ dbSNP | Ensembl ].
VAR_003172
Natural variant1221E → K in Carlton. Ref.17
VAR_020653
Natural variant1261E → A in Port-Royal. Ref.14
VAR_003174
Natural variant1311W → G in Poole; unstable. Ref.16
VAR_003176
Natural variant1471H → Y in Onoda; O(2) affinity up. Ref.37
Corresponds to variant rs34807671 [ dbSNP | Ensembl ].
VAR_003179

Secondary structure

....................... 147
Helix Strand Turn

Details...

Sequences

Sequence LengthMass (Da)Tools
P69892 [UniParc].

Last modified January 23, 2007. Version 2.
Checksum: 8FCDC4441B416DDE

FASTA14716,126
        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 

« Hide

References

« Hide '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. expand/collapse author list , 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, IDENTIFICATION BY 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) IN COMPLEX WITH HEME AND ALPHA CHAIN, SUBUNIT.
[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.
CCDSCCDS7755.1.
PIRHGHUA. A90803.
RefSeqNP_000175.1. NM_000184.2.
UniGeneHs.302145.
Hs.702189.

3D structure databases

PDBe
RCSB-PDB
PDBj
EntryMethodResolution (Å)ChainPositionsPDBsum
1FDHX-ray2.50G/H2-147[»]
4MQJX-ray1.80B/D/F/H3-147[»]
4MQKX-ray2.24B/D/F/H2-147[»]
ProteinModelPortalP69892.
SMRP69892. Positions 3-147.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid109298. 6 interactions.
IntActP69892. 6 interactions.
MINTMINT-1200269.
STRING9606.ENSP00000338082.

PTM databases

PhosphoSiteP69892.

Polymorphism databases

DMDM56749861.

Proteomic databases

MaxQBP69892.
PaxDbP69892.
PRIDEP69892.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000336906; ENSP00000338082; ENSG00000196565.
ENST00000380259; ENSP00000369609; ENSG00000196565.
GeneID3048.
KEGGhsa:3048.
UCSCuc001maj.1. human.

Organism-specific databases

CTD3048.
GeneCardsGC11M005274.
HGNCHGNC:4832. HBG2.
HPACAB016143.
MIM142250. gene.
613977. phenotype.
neXtProtNX_P69892.
Orphanet280615. Hemoglobinopathy Toms River.
46532. Hereditary persistence of fetal hemoglobin - beta-thalassemia.
251380. Hereditary persistence of fetal hemoglobin - sickle cell disease.
PharmGKBPA29207.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG331950.
HOVERGENHBG009709.
KOK13824.
OMANISHFEM.
PhylomeDBP69892.
TreeFamTF333268.

Enzyme and pathway databases

ReactomeREACT_604. Hemostasis.

Gene expression databases

BgeeP69892.
CleanExHS_HBG2.
GenevestigatorP69892.

Family and domain databases

Gene3D1.10.490.10. 1 hit.
InterProIPR000971. Globin.
IPR009050. Globin-like.
IPR012292. Globin_dom.
IPR002337. Haemoglobin_b.
[Graphical view]
PfamPF00042. Globin. 1 hit.
[Graphical view]
PRINTSPR00814. BETAHAEM.
SUPFAMSSF46458. SSF46458. 1 hit.
PROSITEPS01033. GLOBIN. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSHBG2. human.
EvolutionaryTraceP69892.
GeneWikiHBG2.
GenomeRNAi3048.
NextBio12067.
PROP69892.
SOURCESearch...

Entry information

Entry nameHBG2_HUMAN
AccessionPrimary (citable) accession number: P69892
Secondary accession number(s): A8MZE0 expand/collapse secondary AC list , P02096, P62027, Q14491, Q68NH9, Q96FH6, Q96FH7
Entry history
Integrated into UniProtKB/Swiss-Prot: July 21, 1986
Last sequence update: January 23, 2007
Last modified: July 9, 2014
This is version 110 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

PDB cross-references

Index of Protein Data Bank (PDB) cross-references

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 11

Human chromosome 11: entries, gene names and cross-references to MIM