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FLASH GENE
Symbol HBD contributors: /mct - updated : 21-02-2006
HGNC name hemoglobin, delta
HGNC id 4829
Corresponding disease
DTHAL thalassemia, delta deficiency
Location 11p15.4      Physical location : 5.254.058 - 5.255.858
Synonym name
  • hemoglobin subunit delta
  • hemoglobin delta chain
    • DNA
    TYPE functioning gene
    SPECIAL FEATURE component of a cluster
    text member of the HB-NA cluster (see HB-NA@)
    STRUCTURE 1.80 kb     3 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status confirmed
    Map see HB-NA@
    Authors Keys (2008)
    regionally located 5'-HBE1, HBG2, HBG1, HBD, HBB-3'
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    3 - 774 15.9 147 - -
    EXPRESSION
    Type
    constitutive of
       expressed in (based on citations)
    organ(s)
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Blood / Hematopoieticbone marrow   
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Blood/Hematopoieticerthrocyte
    Blood/Hematopoieticerythroblast
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • eight helical segments A to H
  • non helical N and C termini and non helical linkers
    • mono polymer heteromer , dimer
    HOMOLOGY
    Homologene
    FAMILY
  • globin family
    • CATEGORY transport carrier
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm
    basic FUNCTION
  • transporting oxygen and carbon dioxide between the lung and tissues
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    text oxygen transport
    PATHWAY
    metabolism
    signaling
    a component
  • heterodimer aplha delta forming a heterotetramer alpha2 delta2 (adult, minor form)
    • INTERACTION
    DNA
    RNA
    small molecule other,
  • heme ferroporphyrin binding O2 and anchored to distal and proximal histidine of the HbA chain, embedded in the pocket between helices E and F
    • protein
  • alpha chain in adult minor hemoglobin
    • cell & other
    REGULATION
    Other regulated by IKAROS (involved in the regulation of human globin gene switching) (Keys 2008)
    ASSOCIATED DISORDERS
    corresponding disease(s) DTHAL
    related resource A Syllabus of Human Hemoglobin Variants & A Syllabus of Thalassaemia Mutations
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS