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    HBB hemoglobin subunit beta [ Homo sapiens (human) ]

    Gene ID: 3043, updated on 23-Oct-2021

    Summary

    Official Symbol
    HBBprovided by HGNC
    Official Full Name
    hemoglobin subunit betaprovided by HGNC
    Primary source
    HGNC:HGNC:4827
    See related
    Ensembl:ENSG00000244734 MIM:141900
    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
    ECYT6; CD113t-C; beta-globin
    Summary
    The alpha (HBA) and beta (HBB) loci determine the structure of the 2 types of polypeptide chains in adult hemoglobin, Hb A. The normal adult hemoglobin tetramer consists of two alpha chains and two beta chains. Mutant beta globin causes sickle cell anemia. Absence of beta chain causes beta-zero-thalassemia. Reduced amounts of detectable beta globin causes beta-plus-thalassemia. 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]
    Orthologs
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    Genomic context

    See HBB in Genome Data Viewer
    Location:
    11p15.4
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 11 NC_000011.10 (5225464..5227071, complement)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (5246694..5248301, complement)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene olfactory receptor family 51 subfamily V member 1 Neighboring gene beta-globin 3' hypersensitive site 1 Neighboring gene origin of replication at HBB Neighboring gene beta-globin gene 3' regulatory region Neighboring gene HBB recombination region Neighboring gene HBD recombination region Neighboring gene delta-globin 5' regulatory region Neighboring gene hemoglobin subunit delta

    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
    A genome-wide association scan on the levels of markers of inflammation in Sardinians reveals associations that underpin its complex regulation.
    GeneReviews: Not available
    alpha Thalassemia
    MedGen: C0002312 OMIM: 604131 GeneReviews: Alpha-Thalassemia
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    beta Thalassemia
    MedGen: C0005283 OMIM: 613985 GeneReviews: Beta-Thalassemia
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    Beta-thalassemia, dominant inclusion body type
    MedGen: C1858990 OMIM: 603902 GeneReviews: Not available
    Compare labs
    Erythrocytosis 6, familial
    MedGen: C4693822 OMIM: 617980 GeneReviews: Not available
    Compare labs
    Fetal hemoglobin quantitative trait locus 1
    MedGen: C1841621 OMIM: 141749 GeneReviews: Not available
    Compare labs
    Genome-wide and fine-resolution association analysis of malaria in West Africa.
    GeneReviews: Not available
    Genome-wide association study indicates two novel resistance loci for severe malaria.
    GeneReviews: Not available
    Genome-wide association study shows BCL11A associated with persistent fetal hemoglobin and amelioration of the phenotype of beta-thalassemia.
    GeneReviews: Not available
    Hb SS disease
    MedGen: C0002895 OMIM: 603903 GeneReviews: Sickle Cell Disease
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    HbA2 levels in normal adults are influenced by two distinct genetic mechanisms.
    GeneReviews: Not available
    Heinz body anemia
    MedGen: C0700299 OMIM: 140700 GeneReviews: Not available
    Compare labs
    Imputation-based meta-analysis of severe malaria in three African populations.
    GeneReviews: Not available
    Methemoglobinemia, beta-globin type
    MedGen: C1840779 OMIM: 617971 GeneReviews: Not available
    Compare labs
    Susceptibility to malaria
    MedGen: C1970028 OMIM: 611162 GeneReviews: Not available
    Compare labs

    HIV-1 interactions

    Replication interactions

    Interaction Pubs
    HIV-1 infection (VSV-G pseudotyped) of CEMT4 T cells downregulates plasma membrane expression of HBB PubMed

    Go to the HIV-1, Human Interaction Database

    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 hemoglobin alpha binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables hemoglobin binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables metal 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 binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables oxygen carrier activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables oxygen carrier activity NAS
    Non-traceable Author Statement
    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 
    Component Evidence Code Pubs
    located_in blood microparticle HDA PubMed 
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    located_in endocytic vesicle lumen TAS
    Traceable Author Statement
    more info
     
    located_in extracellular exosome HDA PubMed 
    located_in extracellular region TAS
    Traceable Author Statement
    more info
     
    located_in extracellular space IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in ficolin-1-rich granule lumen TAS
    Traceable Author Statement
    more info
     
    part_of haptoglobin-hemoglobin complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    part_of haptoglobin-hemoglobin complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of hemoglobin complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    part_of hemoglobin complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of hemoglobin complex NAS
    Non-traceable Author Statement
    more info
    PubMed 
    part_of hemoglobin complex TAS
    Traceable Author Statement
    more info
    PubMed 
    located_in tertiary granule lumen TAS
    Traceable Author Statement
    more info
     

    General protein information

    Preferred Names
    hemoglobin subunit beta
    Names
    beta globin chain
    hemoglobin beta subunit
    hemoglobin, beta

    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_059281.1 RefSeqGene

      Range
      5001..6608
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_1232

    mRNA and Protein(s)

    1. NM_000518.5NP_000509.1  hemoglobin subunit beta

      See identical proteins and their annotated locations for NP_000509.1

      Status: REVIEWED

      Source sequence(s)
      AK311825, BU661647
      Consensus CDS
      CCDS7753.1
      UniProtKB/Swiss-Prot
      P68871
      UniProtKB/TrEMBL
      D9YZU5
      Related
      ENSP00000333994.3, ENST00000335295.4
      Conserved Domains (1) summary
      cd08925
      Location:8146
      Hb-beta-like; Hemoglobin beta, gamma, delta, epsilon, 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_000011.10 Reference GRCh38.p13 Primary Assembly

      Range
      5225464..5227071 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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