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    HBD hemoglobin subunit delta [ Homo sapiens (human) ]

    Gene ID: 3045, updated on 10-Dec-2024

    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; AllianceGenome:HGNC:4829
    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
    HBK
    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]
    Orthologs
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    Genomic context

    See HBD in Genome Data Viewer
    Location:
    11p15.4
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (5232838..5234483, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (5292211..5293856, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (5254068..5255713, 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 ReSE screen-validated silencer GRCh37_chr11:5244549-5244757 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: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    BioGRID CRISPR Screen Phenotypes (7 hits/1235 screens)

    EBI GWAS Catalog

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

    Pathways from PubChem

    Interactions

    General gene information

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    contributes_to haptoglobin binding  
    enables heme binding  
    enables hemoglobin alpha binding  
    enables metal ion binding  
    enables oxygen binding  
    enables oxygen carrier activity  
    contributes_to peroxidase activity  
    enables protein binding PubMed 
    Component Evidence Code Pubs
    located_in blood microparticle PubMed 
    located_in cytosol  
    part_of haptoglobin-hemoglobin complex  
    part_of hemoglobin complex  
    part_of hemoglobin complex PubMed 

    General protein information

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

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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
      63133..64778
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    2. NG_063112.2 RefSeqGene

      Range
      14175..15820
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_1335

    mRNA and Protein(s)

    1. NM_000519.4 → NP_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, Q3Y5H3, Q8WXT7
      UniProtKB/TrEMBL
      A0A481SHK9, A0N071, C8C504
      Related
      ENSP00000497529.1, ENST00000650601.1
      Conserved Domains (1) summary
      cd08925
      Location:8 → 146
      Hb-beta-like; Hemoglobin beta, gamma, delta, epsilon, and related Hb subunits

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000011.10 Reference GRCh38.p14 Primary Assembly

      Range
      5232838..5234483 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      5292211..5293856 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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