LOCUS       NM_000517                576 bp    mRNA    linear   PRI 08-OCT-2024
DEFINITION  Homo sapiens hemoglobin subunit alpha 2 (HBA2), mRNA.
ACCESSION   NM_000517
VERSION     NM_000517.6
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 576)
  AUTHORS   Sun,M., Lou,J., Xinghe,W., Zhao,Y., Dai,Y., Liu,S. and Yan,T.
  TITLE     Hb H disease associated with compound heterozygosity for --SEA
            deletion and a novel alpha globin chain variant (HBA2:c.175C>A) on
            the distal histidine in a Chinese family
  JOURNAL   Hematology 29 (1), 2339559 (2024)
   PUBMED   38626234
  REMARK    GeneRIF: Hb H disease associated with compound heterozygosity for
            --[SEA] deletion and a novel alpha globin chain variant
            (HBA2:c.175C>A) on the distal histidine in a Chinese family.
REFERENCE   2  (bases 1 to 576)
  AUTHORS   Chen,L.Z., Yan,T.Z., Huang,J., Zhong,Q.Y., Qin,X., Tang,N. and
            Luo,S.Q.
  TITLE     [Molecular Diagnosis and Pedigree Analysis of Rare Mutations in
            Non-coding Region of HBA2 Gene]
  JOURNAL   Zhongguo Shi Yan Xue Ye Xue Za Zhi 32 (3), 940-944 (2024)
   PUBMED   38926992
  REMARK    GeneRIF: [Molecular Diagnosis and Pedigree Analysis of Rare
            Mutations in Non-coding Region of HBA2 Gene].
REFERENCE   3  (bases 1 to 576)
  AUTHORS   Wang,Q.H., Chen,X.Y., Tang,N., Yan,T.Z., Huang,J., Zhong,Q.Y. and
            Luo,S.Q.
  TITLE     [Cases Analysis of Hemoglobin H Disease Caused by HBA2:c.2T>C and
            HBA2:c.2delT Mutations]
  JOURNAL   Zhongguo Shi Yan Xue Ye Xue Za Zhi 32 (2), 520-524 (2024)
   PUBMED   38660861
  REMARK    GeneRIF: [Cases Analysis of Hemoglobin H Disease Caused by
            HBA2:c.2T>C and HBA2:c.2delT Mutations].
REFERENCE   4  (bases 1 to 576)
  AUTHORS   Traeger-Synodinos,J., Vrettou,C., Sofocleous,C., Zurlo,M.,
            Finotti,A. and Gambari,R.
  CONSRTM   International Hemoglobinopathy Research Network (INHERENT)
  TITLE     Impact of alpha-Globin Gene Expression and alpha-Globin Modifiers
            on the Phenotype of beta-Thalassemia and Other Hemoglobinopathies:
            Implications for Patient Management
  JOURNAL   Int J Mol Sci 25 (6), 3400 (2024)
   PUBMED   38542374
  REMARK    GeneRIF: Impact of alpha-Globin Gene Expression and alpha-Globin
            Modifiers on the Phenotype of beta-Thalassemia and Other
            Hemoglobinopathies: Implications for Patient Management.
            Review article
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 576)
  AUTHORS   Ghassemifar,R., Forster,L., Qadah,T. and Finlayson,J.
  TITLE     Identification and characterization of two novel and differentially
            expressed isoforms of human alpha2- and alpha1-globin genes
  JOURNAL   Hemoglobin 36 (5), 421-432 (2012)
   PUBMED   22738435
  REMARK    GeneRIF: This study, for the first time, confirms the presence of
            two isoforms for both the alpha2- and alpha1-globin genes with
            varying transcription levels in healthy individuals.
REFERENCE   6  (bases 1 to 576)
  AUTHORS   Tamary,H. and Dgany,O.
  TITLE     Alpha-Thalassemia
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301608
REFERENCE   7  (bases 1 to 576)
  AUTHORS   Liebhaber,S.A., Goossens,M.J. and Kan,Y.W.
  TITLE     Cloning and complete nucleotide sequence of human 5'-alpha-globin
            gene
  JOURNAL   Proc Natl Acad Sci U S A 77 (12), 7054-7058 (1980)
   PUBMED   6452630
REFERENCE   8  (bases 1 to 576)
  AUTHORS   Marinucci,M., Mavilio,F., Massa,A., Gabbianelli,M.,
            Fontanarosa,P.P., Camagna,A., Ignesti,C. and Tentori,L.
  TITLE     A new abnormal human hemoglobin: Hb Prato (alpha 2 31 (B12) Arg
            leads to Ser beta 2)
  JOURNAL   Biochim Biophys Acta 578 (2), 534-540 (1979)
   PUBMED   486536
REFERENCE   9  (bases 1 to 576)
  AUTHORS   Sanguansermsri,T., Matragoon,S., Changloah,L. and Flatz,G.
  TITLE     Hemoglobin Suan-Dok (alpha 2 109 (G16) Leu replaced by Arg beta 2):
            an unstable variant associated with alpha-thalassemia
  JOURNAL   Hemoglobin 3 (2-3), 161-174 (1979)
   PUBMED   478977
REFERENCE   10 (bases 1 to 576)
  AUTHORS   Moo-Penn,W.F., Jue,D.L., Johnson,M.H., Wilson,S.M., Therrell,B. Jr.
            and Schmidt,R.M.
  TITLE     Hemoglobin Tarrant: alpha126(H9) Asp leads to Asn. A new hemoglobin
            variant in the alpha1beta1 contact region showing high oxygen
            affinity and reduced cooperativity
  JOURNAL   Biochim Biophys Acta 490 (2), 443-451 (1977)
   PUBMED   13856
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from V00493.1, Z84721.1 and
            AI016696.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Aug 3, 2018 this sequence version replaced NM_000517.5.
            
            Summary: The human alpha globin gene cluster located on chromosome
            16 spans about 30 kb and includes seven loci: 5'- zeta - pseudozeta
            - mu - pseudoalpha-1 - alpha-2 - alpha-1 - theta - 3'. The alpha-2
            (HBA2) and alpha-1 (HBA1) coding sequences are identical. These
            genes differ slightly over the 5' untranslated regions and the
            introns, but they differ significantly over the 3' untranslated
            regions. Two alpha chains plus two beta chains constitute HbA,
            which in normal adult life comprises about 97% of the total
            hemoglobin; alpha chains combine with delta chains to constitute
            HbA-2, which with HbF (fetal hemoglobin) makes up the remaining 3%
            of adult hemoglobin. Alpha thalassemias result from deletions of
            each of the alpha genes as well as deletions of both HBA2 and HBA1;
            some nondeletion alpha thalassemias have also been reported.
            [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 :: AI816040.1, AI815806.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000251595.11/ ENSP00000251595.6
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-84                V00493.1           1-84
            85-91               Z84721.1           33823-33829
            92-483              V00493.1           92-483
            484-572             AI016696.1         25-113              c
            573-576             Z84721.1           34570-34573
FEATURES             Location/Qualifiers
     source          1..576
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16p13.3"
     gene            1..576
                     /gene="HBA2"
                     /gene_synonym="ECYT7; HBA-T2; HBH"
                     /note="hemoglobin subunit alpha 2"
                     /db_xref="GeneID:3040"
                     /db_xref="HGNC:HGNC:4824"
                     /db_xref="MIM:141850"
     exon            1..132
                     /gene="HBA2"
                     /gene_synonym="ECYT7; HBA-T2; HBH"
                     /inference="alignment:Splign:2.1.0"
     CDS             38..466
                     /gene="HBA2"
                     /gene_synonym="ECYT7; HBA-T2; HBH"
                     /note="alpha globin; alpha-2 globin; hemoglobin alpha
                     chain; mutant hemoglobin alpha 2 globin chain; hemoglobin,
                     alpha 2"
                     /codon_start=1
                     /product="hemoglobin subunit alpha"
                     /protein_id="NP_000508.1"
                     /db_xref="CCDS:CCDS10398.1"
                     /db_xref="GeneID:3040"
                     /db_xref="HGNC:HGNC:4824"
                     /db_xref="MIM:141850"
                     /translation="MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYF
                     PHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLL
                     SHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR"
     exon            133..337
                     /gene="HBA2"
                     /gene_synonym="ECYT7; HBA-T2; HBH"
                     /inference="alignment:Splign:2.1.0"
     exon            338..576
                     /gene="HBA2"
                     /gene_synonym="ECYT7; HBA-T2; HBH"
                     /inference="alignment:Splign:2.1.0"
     regulatory      555..560
                     /regulatory_class="polyA_signal_sequence"
                     /gene="HBA2"
                     /gene_synonym="ECYT7; HBA-T2; HBH"
                     /note="hexamer: AATAAA"
     polyA_site      573
                     /gene="HBA2"
                     /gene_synonym="ECYT7; HBA-T2; HBH"
                     /note="major polyA site"
ORIGIN      
        1 actcttctgg tccccacaga ctcagagaga acccaccatg gtgctgtctc ctgccgacaa
       61 gaccaacgtc aaggccgcct ggggtaaggt cggcgcgcac gctggcgagt atggtgcgga
      121 ggccctggag aggatgttcc tgtccttccc caccaccaag acctacttcc cgcacttcga
      181 cctgagccac ggctctgccc aggttaaggg ccacggcaag aaggtggccg acgcgctgac
      241 caacgccgtg gcgcacgtgg acgacatgcc caacgcgctg tccgccctga gcgacctgca
      301 cgcgcacaag cttcgggtgg acccggtcaa cttcaagctc ctaagccact gcctgctggt
      361 gaccctggcc gcccacctcc ccgccgagtt cacccctgcg gtgcacgcct ccctggacaa
      421 gttcctggct tctgtgagca ccgtgctgac ctccaaatac cgttaagctg gagcctcggt
      481 agccgttcct cctgcccgct gggcctccca acgggccctc ctcccctcct tgcaccggcc
      541 cttcctggtc tttgaataaa gtctgagtgg gcagca
//
