LOCUS       NM_000184                586 bp    mRNA    linear   PRI 01-JUN-2024
DEFINITION  Homo sapiens hemoglobin subunit gamma 2 (HBG2), mRNA.
ACCESSION   NM_000184
VERSION     NM_000184.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 586)
  AUTHORS   Kotepui,M., Mahittikorn,A., Wilairatana,P., Masangkay,F.R.,
            Wangdi,K. and Kotepui,K.U.
  TITLE     Methemoglobin levels in malaria: a systematic review and
            meta-analysis of its association with Plasmodium falciparum and
            Plasmodium vivax infections and disease severity
  JOURNAL   Sci Rep 14 (1), 3276 (2024)
   PUBMED   38332023
  REMARK    GeneRIF: Methemoglobin levels in malaria: a systematic review and
            meta-analysis of its association with Plasmodium falciparum and
            Plasmodium vivax infections and disease severity.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 586)
  AUTHORS   Vardar,G., Rzayev,T., Tezel,K.G. and Ozek,E.
  TITLE     Can We Estimate Late-Onset Sepsis by Serial Methemoglobin Levels?
            An Observational Study in Preterm Neonates
  JOURNAL   Fetal Pediatr Pathol 42 (5), 753-765 (2023)
   PUBMED   37318102
  REMARK    GeneRIF: Can We Estimate Late-Onset Sepsis by Serial Methemoglobin
            Levels? An Observational Study in Preterm Neonates.
REFERENCE   3  (bases 1 to 586)
  AUTHORS   Lin,J., Ye,Y., Shang,X., Zhang,Y., Wei,X. and Xu,X.
  TITLE     TEA domain transcription factor 4 modulates repression of fetal
            haemoglobin by direct binding to the gamma-globin gene promoters
  JOURNAL   Br J Haematol 195 (5), 764-769 (2021)
   PUBMED   34569056
  REMARK    GeneRIF: TEA domain transcription factor 4 modulates repression of
            fetal haemoglobin by direct binding to the gamma-globin gene
            promoters.
REFERENCE   4  (bases 1 to 586)
  AUTHORS   Eernstman,J., Veldhuisen,B., Ligthart,P., von Lindern,M., van der
            Schoot,C.E. and van den Akker,E.
  TITLE     Novel variants in Krueppel like factor 1 that cause persistence of
            fetal hemoglobin in In(Lu) individuals
  JOURNAL   Sci Rep 11 (1), 18557 (2021)
   PUBMED   34535703
  REMARK    GeneRIF: Novel variants in Krueppel like factor 1 that cause
            persistence of fetal hemoglobin in In(Lu) individuals.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 586)
  AUTHORS   Doerfler,P.A., Feng,R., Li,Y., Palmer,L.E., Porter,S.N., Bell,H.W.,
            Crossley,M., Pruett-Miller,S.M., Cheng,Y. and Weiss,M.J.
  TITLE     Activation of gamma-globin gene expression by GATA1 and NF-Y in
            hereditary persistence of fetal hemoglobin
  JOURNAL   Nat Genet 53 (8), 1177-1186 (2021)
   PUBMED   34341563
  REMARK    GeneRIF: Activation of gamma-globin gene expression by GATA1 and
            NF-Y in hereditary persistence of fetal hemoglobin.
REFERENCE   6  (bases 1 to 586)
  AUTHORS   Fucharoen,S., Shimizu,K. and Fukumaki,Y.
  TITLE     A novel C-T transition within the distal CCAAT motif of the G
            gamma-globin gene in the Japanese HPFH: implication of factor
            binding in elevated fetal globin expression
  JOURNAL   Nucleic Acids Res 18 (17), 5245-5253 (1990)
   PUBMED   1698280
REFERENCE   7  (bases 1 to 586)
  AUTHORS   Marotta,C.A., Forget,B.G., Cohne-Solal,M., Wilson,J.T. and
            Weissman,S.M.
  TITLE     Human beta-globin messenger RNA. I. Nucleotide sequences derived
            from complementary RNA
  JOURNAL   J Biol Chem 252 (14), 5019-5031 (1977)
   PUBMED   873928
REFERENCE   8  (bases 1 to 586)
  AUTHORS   Frier,J.A. and Perutz,M.F.
  TITLE     Structure of human foetal deoxyhaemoglobin
  JOURNAL   J Mol Biol 112 (1), 97-112 (1977)
   PUBMED   881729
REFERENCE   9  (bases 1 to 586)
  AUTHORS   Brennan,S.O., Smith,M.B. and Carrell,R.W.
  TITLE     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
  JOURNAL   Biochim Biophys Acta 490 (2), 452-455 (1977)
   PUBMED   836882
REFERENCE   10 (bases 1 to 586)
  AUTHORS   Lee-Potter,J.P., Deacon-Smith,R.A., Simpkiss,M.J., Kamuzora,H. and
            Lehmann,H.
  TITLE     A new cause of haemolytic anaemia in the newborn. A description of
            an unstable fetal haemoglobin: F Poole, alpha2-G-gamma2 130
            trptophan yeilds glycine
  JOURNAL   J Clin Pathol 28 (4), 317-320 (1975)
   PUBMED   1127124
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC104389.8.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 26, 2018 this sequence version replaced NM_000184.2.
            
            Summary: The gamma globin genes (HBG1 and HBG2) are normally
            expressed in the fetal liver, spleen and bone marrow. Two gamma
            chains together with two alpha chains constitute fetal hemoglobin
            (HbF) which is normally replaced by adult hemoglobin (HbA) at
            birth. In some beta-thalassemias and related conditions, gamma
            chain production continues into adulthood. The two types of gamma
            chains differ at residue 136 where glycine is found in the G-gamma
            product (HBG2) and alanine is found in the A-gamma product (HBG1).
            The former is predominant at birth. The order of the genes in the
            beta-globin cluster is: 5'- epsilon -- gamma-G -- gamma-A -- delta
            -- beta--3'. [provided by RefSeq, Jul 2008].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BG619575.1, SRR5189661.69806.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2142853, SAMEA2149004
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000336906.6/ ENSP00000338082.4
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-145               AC104389.8         56977-57121         c
            146-368             AC104389.8         56632-56854         c
            369-586             AC104389.8         55528-55745         c
FEATURES             Location/Qualifiers
     source          1..586
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11p15.4"
     gene            1..586
                     /gene="HBG2"
                     /gene_synonym="HBG-T1; TNCY"
                     /note="hemoglobin subunit gamma 2"
                     /db_xref="GeneID:3048"
                     /db_xref="HGNC:HGNC:4832"
                     /db_xref="MIM:142250"
     exon            1..145
                     /gene="HBG2"
                     /gene_synonym="HBG-T1; TNCY"
                     /inference="alignment:Splign:2.1.0"
     CDS             54..497
                     /gene="HBG2"
                     /gene_synonym="HBG-T1; TNCY"
                     /note="G-gamma globin Paulinia; methemoglobin; abnormal
                     hemoglobin; hb F Ggamma; gamma-2-globin; hemoglobin
                     gamma-2 chain; hemoglobin gamma-G chain; hemoglobin, gamma
                     G; gamma-globin chain; fetal hemoglobin F subunit gamma 2"
                     /codon_start=1
                     /product="hemoglobin subunit gamma-2"
                     /protein_id="NP_000175.1"
                     /db_xref="CCDS:CCDS7755.1"
                     /db_xref="GeneID:3048"
                     /db_xref="HGNC:HGNC:4832"
                     /db_xref="MIM:142250"
                     /translation="MGHFTEEDKATITSLWGKVNVEDAGGETLGRLLVVYPWTQRFFD
                     SFGNLSSASAIMGNPKVKAHGKKVLTSLGDAIKHLDDLKGTFAQLSELHCDKLHVDPE
                     NFKLLGNVLVTVLAIHFGKEFTPEVQASWQKMVTGVASALSSRYH"
     exon            146..368
                     /gene="HBG2"
                     /gene_synonym="HBG-T1; TNCY"
                     /inference="alignment:Splign:2.1.0"
     exon            369..586
                     /gene="HBG2"
                     /gene_synonym="HBG-T1; TNCY"
                     /inference="alignment:Splign:2.1.0"
     regulatory      557..562
                     /regulatory_class="polyA_signal_sequence"
                     /gene="HBG2"
                     /gene_synonym="HBG-T1; TNCY"
                     /note="hexamer: AATAAA"
     polyA_site      586
                     /gene="HBG2"
                     /gene_synonym="HBG-T1; TNCY"
                     /note="major polyA site"
ORIGIN      
        1 acactcgctt ctggaacgtc tgaggttatc aataagctcc tagtccagac gccatgggtc
       61 atttcacaga ggaggacaag gctactatca caagcctgtg gggcaaggtg aatgtggaag
      121 atgctggagg agaaaccctg ggaaggctcc tggttgtcta cccatggacc cagaggttct
      181 ttgacagctt tggcaacctg tcctctgcct ctgccatcat gggcaacccc aaagtcaagg
      241 cacatggcaa gaaggtgctg acttccttgg gagatgccat aaagcacctg gatgatctca
      301 agggcacctt tgcccagctg agtgaactgc actgtgacaa gctgcatgtg gatcctgaga
      361 acttcaagct cctgggaaat gtgctggtga ccgttttggc aatccatttc ggcaaagaat
      421 tcacccctga ggtgcaggct tcctggcaga agatggtgac tggagtggcc agtgccctgt
      481 cctccagata ccactgagct cactgcccat gatgcagagc tttcaaggat aggctttatt
      541 ctgcaagcaa tcaaataata aatctattct gctaagagat cacaca
//
