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P69892

- HBG2_HUMAN

UniProt

P69892 - HBG2_HUMAN

Protein

Hemoglobin subunit gamma-2

Gene

HBG2

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
  1. 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

    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

    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.5 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    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. 1 Publication
    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 – 11Removed3 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.
    ModBaseiSearch...
    MobiDBiSearch...

    Miscellaneous databases

    EvolutionaryTraceiP69892.

    Family & Domainsi

    Sequence similaritiesi

    Belongs to the globin family.PROSITE-ProRule annotation

    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. 1 Publication
    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

    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: October 1, 2014
    This is version 112 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