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    HBD hemoglobin subunit delta [ Homo sapiens (human) ]

    Gene ID: 3045, updated on 2-Oct-2018

    Summary

    Official Symbol
    HBDprovided by HGNC
    Official Full Name
    hemoglobin subunit deltaprovided by HGNC
    Primary source
    HGNC:HGNC:4829
    See related
    Ensembl:ENSG00000223609 MIM:142000; Vega:OTTHUMG00000066674
    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
    Summary
    The delta (HBD) and beta (HBB) genes are normally expressed in the adult: two alpha chains plus two beta chains constitute HbA, which in normal adult life comprises about 97% of the total hemoglobin. Two alpha chains plus two delta chains constitute HbA-2, which with HbF comprises the remaining 3% of adult hemoglobin. Five beta-like globin genes are found within a 45 kb cluster on chromosome 11 in the following order: 5'-epsilon--Ggamma--Agamma--delta--beta-3'. Mutations in the delta-globin gene are associated with beta-thalassemia. [provided by RefSeq, Jul 2008]

    Genomic context

    See HBD in Genome Data Viewer
    Location:
    11p15.4
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 11 NC_000011.10 (5232829..5234628, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (5254059..5255858, complement)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes 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 hemoglobin subunit beta Neighboring gene HBD recombination region Neighboring gene delta-globin 5' regulatory region Neighboring gene hemoglobin subunit beta pseudogene 1 Neighboring gene A-gamma-globin 3' regulatory region Neighboring gene beta globin locus transcript 3

    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 Jun 15 11:32:44 2016

    Bibliography

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Phenotypes

    NHGRI GWAS Catalog

    Description
    A genome-wide association identified the common genetic variants influence disease severity in beta0-thalassemia/hemoglobin E.
    NHGRI GWA Catalog
    GWAS of blood cell traits identifies novel associated loci and epistatic interactions in Caucasian and African-American children.
    NHGRI GWA Catalog

    Pathways from BioSystems

    • 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...
    • 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...

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    contributes_to haptoglobin binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    heme binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    hemoglobin alpha binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    organic acid binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    oxygen binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    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 
    protein binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    blood coagulation TAS
    Traceable Author Statement
    more info
     
    cellular oxidant detoxification IEA
    Inferred from Electronic Annotation
    more info
     
    hydrogen peroxide catabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    oxygen transport IEA
    Inferred from Electronic Annotation
    more info
     
    protein heterooligomerization IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    Component Evidence Code Pubs
    blood microparticle HDA PubMed 
    cytosol TAS
    Traceable Author Statement
    more info
     
    haptoglobin-hemoglobin complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    hemoglobin complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 

    General protein information

    Preferred Names
    hemoglobin subunit delta
    Names
    delta globin
    delta-globin chain
    hemoglobin delta chain
    hemoglobin, delta

    NCBI Reference Sequences (RefSeq)

    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
      62988..64787
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000519.3NP_000510.1  hemoglobin subunit delta

      See identical proteins and their annotated locations for NP_000510.1

      Status: REVIEWED

      Source sequence(s)
      AY034468, BC070282, BU664913
      Consensus CDS
      CCDS31376.1
      UniProtKB/Swiss-Prot
      P02042
      UniProtKB/TrEMBL
      A0N071
      Related
      ENSP00000369654.3, OTTHUMP00000069639, ENST00000380299.3, OTTHUMT00000142970
      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 109 details...Open this link in a new tab

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

    Reference GRCh38.p12 Primary Assembly

    Genomic

    1. NC_000011.10 Reference GRCh38.p12 Primary Assembly

      Range
      5232829..5234628 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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