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P69892

- HBG2_HUMAN

UniProt

P69892 - HBG2_HUMAN

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Protein

Hemoglobin subunit gamma-2

Gene
HBG2
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

Functioni

Gamma chains make up the fetal hemoglobin F, in combination with alpha chains.

Sites

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Metal bindingi64 – 641Iron (heme distal ligand)
Metal bindingi93 – 931Iron (heme proximal ligand)

GO - Molecular functioni

  1. heme binding Source: InterPro
  2. iron ion binding Source: InterPro
  3. oxygen binding Source: InterPro
  4. oxygen transporter activity Source: UniProtKB-KW

GO - Biological processi

  1. blood coagulation Source: Reactome
Complete GO annotation...

Keywords - Biological processi

Oxygen transport, Transport

Keywords - Ligandi

Heme, Iron, Metal-binding

Enzyme and pathway databases

ReactomeiREACT_24970. Factors involved in megakaryocyte development and platelet production.

Names & Taxonomyi

Protein namesi
Recommended name:
Hemoglobin subunit gamma-2
Alternative name(s):
Gamma-2-globin
Hb F Ggamma
Hemoglobin gamma-2 chain
Hemoglobin gamma-G chain
Gene namesi
Name:HBG2
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 11

Organism-specific databases

HGNCiHGNC:4832. HBG2.

Subcellular locationi

GO - Cellular componenti

  1. blood microparticle Source: UniProt
  2. cytosol Source: Reactome
  3. hemoglobin complex Source: InterPro
Complete GO annotation...

Pathology & Biotechi

Involvement in diseasei

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.5 Publications
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti42 – 421F → S in TNCY; hemoglobin Cincinnati. 1 Publication
VAR_003146
Natural varianti64 – 641H → L in TNCY; hemoglobin M-Circleville. 2 Publications
VAR_025336
Natural varianti64 – 641H → 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. 2 Publications
VAR_003154
Natural varianti68 – 681V → 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. 1 Publication
VAR_065950
Natural varianti93 – 931H → Y in TNCY; hemoglobin Fort Ripley. 1 Publication
Corresponds to variant rs35103459 [ dbSNP | Ensembl ].
VAR_003166

Keywords - Diseasei

Disease mutation

Organism-specific databases

MIMi613977. phenotype.
Orphaneti280615. Hemoglobinopathy Toms River.
46532. Hereditary persistence of fetal hemoglobin - beta-thalassemia.
251380. Hereditary persistence of fetal hemoglobin - sickle cell disease.
PharmGKBiPA29207.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Initiator methioninei1 – 11Removed2 Publications
Chaini2 – 147146Hemoglobin subunit gamma-2PRO_0000053254Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei2 – 21N-acetylglycine; in form Hb F11 Publication

Post-translational modificationi

Acetylation of Gly-2 converts Hb F to the minor Hb F1.1 Publication

Keywords - PTMi

Acetylation

Proteomic databases

MaxQBiP69892.
PaxDbiP69892.
PRIDEiP69892.

PTM databases

PhosphoSiteiP69892.

Expressioni

Tissue specificityi

Red blood cells.

Developmental stagei

Expressed until four or five weeks after birth.

Gene expression databases

BgeeiP69892.
CleanExiHS_HBG2.
GenevestigatoriP69892.

Organism-specific databases

HPAiCAB016143.

Interactioni

Subunit structurei

Heterotetramer of two alpha chains and two gamma chains in fetal hemoglobin (Hb F).1 Publication

Protein-protein interaction databases

BioGridi109298. 6 interactions.
IntActiP69892. 6 interactions.
MINTiMINT-1200269.
STRINGi9606.ENSP00000338082.

Structurei

Secondary structure

1
147
Legend: HelixTurnBeta strand
Show more details
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Helixi6 – 1813
Helixi21 – 3515
Helixi37 – 426
Helixi44 – 463
Helixi52 – 565
Helixi59 – 7618
Helixi77 – 815
Helixi82 – 854
Helixi87 – 959
Helixi102 – 11918
Helixi120 – 1223
Helixi125 – 14218
Helixi143 – 1464

3D structure databases

Select the link destinations:
PDBe
RCSB PDB
PDBj
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
1FDHX-ray2.50G/H2-147[»]
4MQJX-ray1.80B/D/F/H3-147[»]
4MQKX-ray2.24B/D/F/H2-147[»]
ProteinModelPortaliP69892.
SMRiP69892. Positions 3-147.

Miscellaneous databases

EvolutionaryTraceiP69892.

Family & Domainsi

Sequence similaritiesi

Belongs to the globin family.

Phylogenomic databases

eggNOGiNOG331950.
HOVERGENiHBG009709.
KOiK13824.
OMAiNISHFEM.
PhylomeDBiP69892.
TreeFamiTF333268.

Family and domain databases

Gene3Di1.10.490.10. 1 hit.
InterProiIPR000971. Globin.
IPR009050. Globin-like.
IPR012292. Globin_dom.
IPR002337. Haemoglobin_b.
[Graphical view]
PfamiPF00042. Globin. 1 hit.
[Graphical view]
PRINTSiPR00814. BETAHAEM.
SUPFAMiSSF46458. SSF46458. 1 hit.
PROSITEiPS01033. GLOBIN. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

P69892-1 [UniParc]FASTAAdd to Basket

« Hide

MGHFTEEDKA TITSLWGKVN VEDAGGETLG RLLVVYPWTQ RFFDSFGNLS    50
SASAIMGNPK VKAHGKKVLT SLGDAIKHLD DLKGTFAQLS ELHCDKLHVD 100
PENFKLLGNV LVTVLAIHFG KEFTPEVQAS WQKMVTGVAS ALSSRYH 147
Length:147
Mass (Da):16,126
Last modified:January 23, 2007 - v2
Checksum:i8FCDC4441B416DDE
GO

Sequence cautioni

The sequence AAB50159.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti2 – 21G → C in Malaysia. 1 Publication
VAR_003123
Natural varianti6 – 61E → G in Meinohama. 1 Publication
VAR_003126
Natural varianti8 – 81D → N in Auckland. 1 Publication
VAR_003129
Natural varianti9 – 91K → E in Albaicin. 1 Publication
VAR_020643
Natural varianti9 – 91K → Q in Albaicin. 1 Publication
VAR_020644
Natural varianti13 – 131T → R in Heather.
VAR_020645
Natural varianti16 – 161W → R in Catalonia. 1 Publication
VAR_003131
Natural varianti17 – 171G → R in Melbourne. 1 Publication
VAR_003132
Natural varianti18 – 181K → N in Clamart. 1 Publication
VAR_020646
Natural varianti20 – 201N → K in Ouled Rabah. 1 Publication
VAR_020647
Natural varianti21 – 211V → A in Bron. 1 Publication
VAR_030496
Natural varianti22 – 221E → K in Saskatoon. 1 Publication
VAR_003133
Natural varianti22 – 221E → Q in Fuchu. 1 Publication
VAR_003134
Natural varianti23 – 231D → G in Urumqi. 2 Publications
VAR_020648
Natural varianti23 – 231D → V in Granada. 1 Publication
VAR_003136
Natural varianti26 – 261G → E in Cosenza. 1 Publication
VAR_003137
Natural varianti27 – 271E → K in Oakland. 1 Publication
VAR_003139
Natural varianti35 – 351V → I in Tokyo. 1 Publication
VAR_003140
Natural varianti39 – 391T → P in Bonheiden; causes severe hereditary hemolytic anemia. 1 Publication
VAR_030497
Natural varianti41 – 411R → G in Veleta.
VAR_003144
Natural varianti41 – 411R → K in Austell. 1 Publication
VAR_020649
Natural varianti42 – 421F → S in TNCY; hemoglobin Cincinnati. 1 Publication
VAR_003146
Natural varianti45 – 451S → R in Lodz. 1 Publication
VAR_003148
Natural varianti56 – 561M → R in Kingston. 1 Publication
VAR_003150
Natural varianti60 – 601K → E in Emirates. 1 Publication
VAR_003151
Natural varianti60 – 601K → Q in Sacromonte. 1 Publication
VAR_003152
Natural varianti64 – 641H → L in TNCY; hemoglobin M-Circleville. 2 Publications
VAR_025336
Natural varianti64 – 641H → 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. 2 Publications
VAR_003154
Natural varianti66 – 661K → N in Clarke. 1 Publication
VAR_003155
Natural varianti67 – 671K → Q in Brooklyn. 1 Publication
VAR_003157
Natural varianti67 – 671K → R in Shanghai. 1 Publication
VAR_003156
Natural varianti68 – 681V → 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. 1 Publication
VAR_065950
Natural varianti73 – 731G → R in Minoo. 1 Publication
VAR_020650
Natural varianti76 – 761I → T in LesVos/Waynesboro/Charlotte. 3 Publications
Corresponds to variant rs1061234 [ dbSNP | Ensembl ].
VAR_020651
Natural varianti76 – 761I → V in Coigneres. 1 Publication
VAR_030498
Natural varianti78 – 781H → R in Kennestone. 1 Publication
VAR_003162
Natural varianti81 – 811D → N in Marietta.
VAR_020652
Natural varianti93 – 931H → Y in TNCY; hemoglobin Fort Ripley. 1 Publication
Corresponds to variant rs35103459 [ dbSNP | Ensembl ].
VAR_003166
Natural varianti95 – 951D → N in Columbus-Ga. 1 Publication
VAR_003167
Natural varianti102 – 1021E → K in La Grange. 1 Publication
VAR_003169
Natural varianti105 – 1051K → N in Macedonia-II. 1 Publication
VAR_003170
Natural varianti118 – 1181H → R in Malta-1. 1 Publication
VAR_003171
Natural varianti119 – 1191F → L in Calabria. 1 Publication
VAR_015740
Natural varianti121 – 1211K → Q in Caltech. 1 Publication
Corresponds to variant rs34703519 [ dbSNP | Ensembl ].
VAR_003172
Natural varianti122 – 1221E → K in Carlton. 1 Publication
VAR_020653
Natural varianti126 – 1261E → A in Port-Royal. 1 Publication
VAR_003174
Natural varianti131 – 1311W → G in Poole; unstable. 1 Publication
VAR_003176
Natural varianti147 – 1471H → Y in Onoda; O(2) affinity up. 1 Publication
Corresponds to variant rs34807671 [ dbSNP | Ensembl ].
VAR_003179

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
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.
CCDSiCCDS7755.1.
PIRiA90803. HGHUA.
RefSeqiNP_000175.1. NM_000184.2.
UniGeneiHs.302145.
Hs.702189.

Genome annotation databases

EnsembliENST00000336906; ENSP00000338082; ENSG00000196565.
ENST00000380259; ENSP00000369609; ENSG00000196565.
GeneIDi3048.
KEGGihsa:3048.
UCSCiuc001maj.1. human.

Polymorphism databases

DMDMi56749861.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Web resourcesi

HbVar

Human hemoglobin variants and thalassemias

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
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 .
CCDSi CCDS7755.1.
PIRi A90803. HGHUA.
RefSeqi NP_000175.1. NM_000184.2.
UniGenei Hs.302145.
Hs.702189.

3D structure databases

Select the link destinations:
PDBe
RCSB PDB
PDBj
Links Updated
Entry Method Resolution (Å) Chain Positions PDBsum
1FDH X-ray 2.50 G/H 2-147 [» ]
4MQJ X-ray 1.80 B/D/F/H 3-147 [» ]
4MQK X-ray 2.24 B/D/F/H 2-147 [» ]
ProteinModelPortali P69892.
SMRi P69892. Positions 3-147.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 109298. 6 interactions.
IntActi P69892. 6 interactions.
MINTi MINT-1200269.
STRINGi 9606.ENSP00000338082.

PTM databases

PhosphoSitei P69892.

Polymorphism databases

DMDMi 56749861.

Proteomic databases

MaxQBi P69892.
PaxDbi P69892.
PRIDEi P69892.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000336906 ; ENSP00000338082 ; ENSG00000196565 .
ENST00000380259 ; ENSP00000369609 ; ENSG00000196565 .
GeneIDi 3048.
KEGGi hsa:3048.
UCSCi uc001maj.1. human.

Organism-specific databases

CTDi 3048.
GeneCardsi GC11M005274.
HGNCi HGNC:4832. HBG2.
HPAi CAB016143.
MIMi 142250. gene.
613977. phenotype.
neXtProti NX_P69892.
Orphaneti 280615. Hemoglobinopathy Toms River.
46532. Hereditary persistence of fetal hemoglobin - beta-thalassemia.
251380. Hereditary persistence of fetal hemoglobin - sickle cell disease.
PharmGKBi PA29207.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG331950.
HOVERGENi HBG009709.
KOi K13824.
OMAi NISHFEM.
PhylomeDBi P69892.
TreeFami TF333268.

Enzyme and pathway databases

Reactomei REACT_24970. Factors involved in megakaryocyte development and platelet production.

Miscellaneous databases

ChiTaRSi HBG2. human.
EvolutionaryTracei P69892.
GeneWikii HBG2.
GenomeRNAii 3048.
NextBioi 12067.
PROi P69892.
SOURCEi Search...

Gene expression databases

Bgeei P69892.
CleanExi HS_HBG2.
Genevestigatori P69892.

Family and domain databases

Gene3Di 1.10.490.10. 1 hit.
InterProi IPR000971. Globin.
IPR009050. Globin-like.
IPR012292. Globin_dom.
IPR002337. Haemoglobin_b.
[Graphical view ]
Pfami PF00042. Globin. 1 hit.
[Graphical view ]
PRINTSi PR00814. BETAHAEM.
SUPFAMi SSF46458. SSF46458. 1 hit.
PROSITEi PS01033. GLOBIN. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  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, 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. 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. Cited for: VARIANT TNCY MET-68, CHARACTERIZATION OF VARIANT TNCY MET-68.

Entry informationi

Entry nameiHBG2_HUMAN
AccessioniPrimary (citable) accession number: P69892
Secondary accession number(s): A8MZE0
, P02096, P62027, Q14491, Q68NH9, Q96FH6, Q96FH7
Entry historyi
Integrated into UniProtKB/Swiss-Prot: July 21, 1986
Last sequence update: January 23, 2007
Last modified: September 3, 2014
This is version 111 of the entry and version 2 of the sequence. [Complete history]
Entry statusiReviewed (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.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Direct protein sequencing, Reference proteome

Documents

  1. Human chromosome 11
    Human chromosome 11: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

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