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    HBA2 hemoglobin subunit alpha 2 [ Homo sapiens (human) ]

    Gene ID: 3040, updated on 19-Jul-2021

    Summary

    Official Symbol
    HBA2provided by HGNC
    Official Full Name
    hemoglobin subunit alpha 2provided by HGNC
    Primary source
    HGNC:HGNC:4824
    See related
    Ensembl:ENSG00000188536 MIM:141850
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    HBH; ECYT7; HBA-T2
    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]
    Annotation information
    Note: We are aware that there is inconsistency among GenBank, RefSeq, and other browsers about the gene order in the alpha globin cluster. According to review by staff at HbVar (http://globin.bx.psu.edu/hbvar/menu.html), the gene order, telomere to centromere, for these loci is ...HBZ(HBZ2)..HBZP(HBZ1)..HBA2..HBA1... [13 Feb 2013]
    Orthologs
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    Genomic context

    See HBA2 in Genome Data Viewer
    Location:
    16p13.3
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 16 NC_000016.10 (172876..173710)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (222875..223709)

    Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene hemoglobin subunit mu Neighboring gene hemoglobin subunit alpha pseudogene 1 Neighboring gene hemoglobin subunit alpha 2 recombination region Neighboring gene hemoglobin subunit alpha 1 recombination region Neighboring gene hemoglobin subunit alpha 1 Neighboring gene hemoglobin subunit theta 1

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    alpha Thalassemia
    MedGen: C0002312 OMIM: 604131 GeneReviews: Alpha-Thalassemia
    Compare labs
    Erythrocytosis, familial, 7
    MedGen: C4693823 OMIM: 617981 GeneReviews: Not available
    Compare labs
    Genome-wide association study of hematological and biochemical traits in a Japanese population.
    GeneReviews: Not available
    Heinz body anemia
    MedGen: C0700299 OMIM: 140700 GeneReviews: Not available
    Compare labs
    Hemoglobin H disease
    MedGen: C3161174 OMIM: 613978 GeneReviews: Not available
    Compare labs

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    contributes_to haptoglobin binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    contributes_to haptoglobin binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables heme binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables iron ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables organic acid binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables oxygen binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables oxygen carrier activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    contributes_to peroxidase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    contributes_to peroxidase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in cellular oxidant detoxification IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in hydrogen peroxide catabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in hydrogen peroxide catabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in oxygen transport TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in positive regulation of cell death IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in response to hydrogen peroxide IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    hemoglobin subunit alpha
    Names
    alpha globin
    alpha-2 globin
    hemoglobin alpha chain
    hemoglobin, alpha 2
    mutant hemoglobin alpha 2 globin chain
    truncated HbA2

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_000006.1 RefSeqGene

      Range
      33739..34573
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    2. NG_059271.1 RefSeqGene

      Range
      5030..5864
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_1240

    mRNA and Protein(s)

    1. NM_000517.6NP_000508.1  hemoglobin subunit alpha

      See identical proteins and their annotated locations for NP_000508.1

      Status: REVIEWED

      Source sequence(s)
      AI016696, V00493, Z84721
      Consensus CDS
      CCDS10398.1
      UniProtKB/Swiss-Prot
      P69905
      UniProtKB/TrEMBL
      D1MGQ2
      Related
      ENSP00000251595.6, ENST00000251595.11
      Conserved Domains (1) summary
      cd08927
      Location:3142
      Hb-alpha-like; Hemoglobin alpha, zeta, mu, theta, and related Hb subunits

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000016.10 Reference GRCh38.p13 Primary Assembly

      Range
      172876..173710
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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