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

    Gene ID: 3040, updated on 14-Apr-2016
    Official Symbol
    HBA2provided by HGNC
    Official Full Name
    hemoglobin subunit alpha 2provided by HGNC
    Primary source
    HGNC:HGNC:4824
    See related
    Ensembl:ENSG00000188536 HPRD:00785; MIM:141850; Vega:OTTHUMG00000059924
    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; 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
    Location:
    16p13.3
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    107 current GRCh38.p2 (GCF_000001405.28) 16 NC_000016.10 (172847..173710)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (222846..223709)

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

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Associated conditions

    Description Tests
    alpha Thalassemia
    MedGen: C0002312 OMIM: 604131 GeneReviews: Alpha-Thalassemia
    Compare labs
    Heinz body anemia
    MedGen: C0700299 OMIM: 140700 GeneReviews: Not available
    Compare labs
    Hemoglobin H disease
    MedGen: C3161174 OMIM: 613978 GeneReviews: Not available
    Compare labs

    NHGRI GWAS Catalog

    Description
    Genome-wide association study of hematological and biochemical traits in a Japanese population.
    NHGRI GWA Catalog
    • African trypanosomiasis, organism-specific biosystem (from KEGG)
      African trypanosomiasis, organism-specific biosystemTrypanosoma brucei, the parasite responsible for African trypanosomiasis (sleeping sickness), are spread by the tsetse fly in sub-Saharan Africa. The parasites are able to pass through the blood-brai...
    • African trypanosomiasis, conserved biosystem (from KEGG)
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    • Binding and Uptake of Ligands by Scavenger Receptors, organism-specific biosystem (from REACTOME)
      Binding and Uptake of Ligands by Scavenger Receptors, organism-specific biosystemScavenger receptors bind free extracellular ligands as the initial step in clearance of the ligands from the body (reviewed in Ascenzi et al. 2005, Areschoug and Gordon 2009, Nielsen et al. 2010). So...
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      Erythrocytes take up oxygen and release carbon dioxide, organism-specific biosystemErythrocytes circulating through the capillaries of the lung must exchange carbon dioxide (CO2) for oxygen (O2) during their short (0.5-1 sec.) transit time in pulmonary tissue (Reviewed in Jensen 20...
    • Malaria, organism-specific biosystem (from KEGG)
      Malaria, organism-specific biosystemPlasmodium protozoa are parasites that account for malaria infection. Sporozoite forms of the parasite are injected by mosquito bites under the skin and are carried to the liver where they develop in...
    • Malaria, conserved biosystem (from KEGG)
      Malaria, conserved biosystemPlasmodium protozoa are parasites that account for malaria infection. Sporozoite forms of the parasite are injected by mosquito bites under the skin and are carried to the liver where they develop in...
    • Metabolism, organism-specific biosystem (from REACTOME)
      Metabolism, organism-specific biosystemMetabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as th...
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      Selenium Pathway, organism-specific biosystem
      Selenium Pathway
    • Vesicle-mediated transport, organism-specific biosystem (from REACTOME)
      Vesicle-mediated transport, organism-specific biosystemThe transit of proteins and other cargo through the cell requires a cellular transport process in which transported substances are moved in membrane-bounded vesicles. Transported substances are enclo...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    contributes_to haptoglobin binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    heme binding IEA
    Inferred from Electronic Annotation
    more info
     
    iron ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    oxygen binding IEA
    Inferred from Electronic Annotation
    more info
     
    oxygen transporter activity IEA
    Inferred from Electronic Annotation
    more info
     
    contributes_to peroxidase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    bicarbonate transport TAS
    Traceable Author Statement
    more info
     
    cellular oxidant detoxification IDA
    Inferred from Direct Assay
    more info
    PubMed 
    hydrogen peroxide catabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    oxygen transport TAS
    Traceable Author Statement
    more info
    PubMed 
    positive regulation of cell death IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein heterooligomerization IDA
    Inferred from Direct Assay
    more info
    PubMed 
    receptor-mediated endocytosis TAS
    Traceable Author Statement
    more info
     
    response to hydrogen peroxide IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Component Evidence Code Pubs
    blood microparticle IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytosol TAS
    Traceable Author Statement
    more info
     
    cytosolic small ribosomal subunit IDA
    Inferred from Direct Assay
    more info
    PubMed 
    endocytic vesicle lumen TAS
    Traceable Author Statement
    more info
     
    extracellular exosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    extracellular region TAS
    Traceable Author Statement
    more info
     
    haptoglobin-hemoglobin complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    hemoglobin complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    hemoglobin complex TAS
    Traceable Author Statement
    more info
    PubMed 
    membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Preferred Names
    hemoglobin subunit alpha
    Names
    alpha globin
    alpha-2 globin
    alpha-globin
    hemoglobin alpha chain
    hemoglobin, alpha 2
    mutant hemoglobin alpha 2 globin chain

    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
      33710..34573
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000517.4NP_000508.1  hemoglobin subunit alpha

      See identical proteins and their annotated locations for NP_000508.1

      Status: REVIEWED

      Source sequence(s)
      BC008572, Z84721
      Consensus CDS
      CCDS10398.1
      UniProtKB/Swiss-Prot
      P69905
      UniProtKB/TrEMBL
      D1MGQ2
      Related
      ENSP00000251595, OTTHUMP00000066291, ENST00000251595, OTTHUMT00000133194
      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 Annotation Release 107 details...

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

    Reference GRCh38.p2 Primary Assembly

    Genomic

    1. NC_000016.10 Reference GRCh38.p2 Primary Assembly

      Range
      172847..173710
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.1

    Genomic

    1. NC_018927.2 Alternate CHM1_1.1

      Range
      222852..223715
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)