Format

Send to:

Choose Destination

Links from PubMed

    • Showing Current items.

    HBB hemoglobin subunit beta [ Homo sapiens (human) ]

    Gene ID: 3043, updated on 5-Nov-2017
    Official Symbol
    HBBprovided by HGNC
    Official Full Name
    hemoglobin subunit betaprovided by HGNC
    Primary source
    HGNC:HGNC:4827
    See related
    Ensembl:ENSG00000244734 MIM:141900; Vega:OTTHUMG00000066678
    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
    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
    Location:
    11p15.4
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 11 NC_000011.10 (5225466..5227071, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (5246696..5248301, complement)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene olfactory receptor family 52 subfamily Z member 1 (gene/pseudogene) Neighboring gene olfactory receptor family 51 subfamily V member 1 Neighboring gene hemoglobin subunit delta Neighboring gene hemoglobin subunit beta pseudogene 1

    • 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 Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Associated conditions

    Description Tests
    alpha Thalassemia
    MedGen: C0002312 OMIM: 604131 GeneReviews: Alpha-Thalassemia
    Compare labs
    beta Thalassemia
    MedGen: C0005283 OMIM: 613985 GeneReviews: Beta-Thalassemia
    Compare labs
    Beta-thalassemia, dominant inclusion body type
    MedGen: C1858990 OMIM: 603902 GeneReviews: Not available
    Compare labs
    Fetal hemoglobin quantitative trait locus 1
    MedGen: C1841621 OMIM: 141749 GeneReviews: Not available
    Compare labs
    Hb SS disease
    MedGen: C0002895 OMIM: 603903 GeneReviews: Sickle Cell Disease
    Compare labs
    Heinz body anemia
    MedGen: C0700299 OMIM: 140700 GeneReviews: Not available
    Compare labs
    Susceptibility to malaria
    MedGen: C1970028 OMIM: 611162 GeneReviews: Not available
    Compare labs

    NHGRI GWAS Catalog

    Description
    A genome-wide association scan on the levels of markers of inflammation in Sardinians reveals associations that underpin its complex regulation.
    NHGRI GWA Catalog
    Genome-wide and fine-resolution association analysis of malaria in West Africa.
    NHGRI GWA Catalog
    Genome-wide association study indicates two novel resistance loci for severe malaria.
    NHGRI GWA Catalog
    Genome-wide association study shows BCL11A associated with persistent fetal hemoglobin and amelioration of the phenotype of beta-thalassemia.
    NHGRI GWA Catalog
    HbA2 levels in normal adults are influenced by two distinct genetic mechanisms.
    NHGRI GWA Catalog
    Imputation-based meta-analysis of severe malaria in three African populations.
    NHGRI GWA Catalog

    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

    • 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)
      African trypanosomiasis, conserved 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...
    • 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...
    • Erythrocytes take up carbon dioxide and release oxygen, organism-specific biosystem (from REACTOME)
      Erythrocytes take up carbon dioxide and release oxygen, organism-specific biosystemCarbon dioxide (CO2) in plasma is hydrated to yield protons (H+) and bicarbonate (HCO3-) by carbonic anhydrase IV (CA4) located on the apical plasma membranes of endothelial cells. Plasma CO2 is also...
    • Erythrocytes take up oxygen and release carbon dioxide, organism-specific biosystem (from REACTOME)
      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...
    • Factors involved in megakaryocyte development and platelet production, organism-specific biosystem (from REACTOME)
      Factors involved in megakaryocyte development and platelet production, organism-specific biosystemMegakaryocytes (MKs) give rise to circulating platelets (thrombocytes) through terminal differentiation of MKs which release cytoplasmic fragments as circulating platelets. As MKs mature they underg...
    • Folate Metabolism, organism-specific biosystem (from WikiPathways)
      Folate Metabolism, organism-specific biosystem
      Folate Metabolism
    • Hemostasis, organism-specific biosystem (from REACTOME)
      Hemostasis, organism-specific biosystemHemostasis is a physiological response that culminates in the arrest of bleeding from an injured vessel. Under normal conditions the vascular endothelium supports vasodilation, inhibits platelet adhe...
    • Immune System, organism-specific biosystem (from REACTOME)
      Immune System, organism-specific biosystemHumans are exposed to millions of potential pathogens daily, through contact, ingestion, and inhalation. Our ability to avoid infection depends on the adaptive immune system and during the first crit...
    • Innate Immune System, organism-specific biosystem (from REACTOME)
      Innate Immune System, organism-specific biosystemInnate immunity encompases the nonspecific part of immunity tha are part of an individual's natural biologic makeup
    • 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...
    • Neutrophil degranulation, organism-specific biosystem (from REACTOME)
      Neutrophil degranulation, organism-specific biosystemNeutrophils are the most abundant leukocytes (white blood cells), indispensable in defending the body against invading microorganisms. In response to infection, neutrophils leave the circulation and ...
    • O2/CO2 exchange in erythrocytes, organism-specific biosystem (from REACTOME)
      O2/CO2 exchange in erythrocytes, organism-specific biosystemIn capillaries of the lungs erythrocytes release carbon dioxide (CO2) and acquire oxygen (O2). In other tissues of the body the reverse reaction occurs (reviewed in Nikinmaa 1997, Jensen 2004).In the...
    • Scavenging of heme from plasma, organism-specific biosystem (from REACTOME)
      Scavenging of heme from plasma, organism-specific biosystemFree heme is damaging to tissues as it intercalates into biologic membranes, perturbing lipid bilayers and promoting the conversion of low-density lipoprotein to cytotoxic oxidized products. Moreover...
    • Selenium Micronutrient Network, organism-specific biosystem (from WikiPathways)
      Selenium Micronutrient Network, organism-specific biosystem
      Selenium Micronutrient Network
    • 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...
    • Vitamin B12 Metabolism, organism-specific biosystem (from WikiPathways)
      Vitamin B12 Metabolism, organism-specific biosystem
      Vitamin B12 Metabolism
    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
     
    hemoglobin binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    iron ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    oxygen binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    oxygen carrier activity NAS
    Non-traceable Author Statement
    more info
    PubMed 
    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
     
    blood coagulation TAS
    Traceable Author Statement
    more info
     
    cellular oxidant detoxification IEA
    Inferred from Electronic Annotation
    more info
     
    hydrogen peroxide catabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    neutrophil degranulation TAS
    Traceable Author Statement
    more info
     
    nitric oxide transport NAS
    Non-traceable Author Statement
    more info
    PubMed 
    oxygen transport NAS
    Non-traceable Author Statement
    more info
    PubMed 
    oxygen transport TAS
    Traceable Author Statement
    more info
    PubMed 
    platelet aggregation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of cell death IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of nitric oxide biosynthetic process NAS
    Non-traceable Author Statement
    more info
    PubMed 
    protein heterooligomerization IDA
    Inferred from Direct Assay
    more info
    PubMed 
    receptor-mediated endocytosis TAS
    Traceable Author Statement
    more info
     
    regulation of blood pressure IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of blood vessel size IEA
    Inferred from Electronic Annotation
    more info
     
    renal absorption IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    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
     
    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
     
    extracellular space IDA
    Inferred from Direct Assay
    more info
    PubMed 
    ficolin-1-rich granule lumen 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 NAS
    Non-traceable Author Statement
    more info
    PubMed 
    hemoglobin complex TAS
    Traceable Author Statement
    more info
    PubMed 
    tertiary granule lumen TAS
    Traceable Author Statement
    more info
     
    Preferred Names
    hemoglobin subunit beta
    Names
    beta globin chain
    hemoglobin, beta

    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_000007.3 RefSeqGene

      Range
      70545..72150
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000518.4NP_000509.1  hemoglobin subunit beta

      See identical proteins and their annotated locations for NP_000509.1

      Status: REVIEWED

      Source sequence(s)
      L48217
      Consensus CDS
      CCDS7753.1
      UniProtKB/Swiss-Prot
      P68871
      UniProtKB/TrEMBL
      D9YZU5
      Related
      ENSP00000333994.3, OTTHUMP00000069644, ENST00000335295.4, OTTHUMT00000142977
      Conserved Domains (1) summary
      cd08925
      Location:7146
      Hb-beta_like; Hemoglobin beta, gamma, delta, epsilon, and related Hb subunits

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000011.10 Reference GRCh38.p7 Primary Assembly

      Range
      5225466..5227071 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.1

    Genomic

    1. NC_018922.2 Alternate CHM1_1.1

      Range
      5245631..5247236 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Support Center