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FLASH GENE
Symbol HBB contributors: mct - updated : 23-08-2017
HGNC name hemoglobin, beta
HGNC id 4827
Corresponding disease
BTHAL beta thalassemia
HBOA Heinz body anemia
SICA sickle cell anemia (drepanocytosis)
Location 11p15.4      Physical location : 5.246.695 - 5.248.301
Synonym name
  • hemoglobin beta chain
  • beta globin chain
    • Synonym symbol(s) CD113t-C, HBD, beta-globin
    DNA
    TYPE functioning gene
    SPECIAL FEATURE
    text member of the HB-NA cluster (see HB-NA@)
    STRUCTURE 1.61 kb     3 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked Y status confirmed
    Authors Keys (2008)
    regionally located 5'-HBE1, HBG2, HBG1, HBD, HBB-3'
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    3 - 626 16 147 - 2009 19372376
    EXPRESSION
    Type restricted
       expressed in (based on citations)
    organ(s)
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Blood / Hematopoieticbone marrow   
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Blood/Hematopoieticerythroblast
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period fetal, perinatal, neonatal
    Text
  • liver
  • the most highly expressed globin gene around the time of birth
    • 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 , tetramer , complex
    HOMOLOGY
    interspecies homolog to rattus Hbb
    Homologene
    FAMILY
  • globin family
    • CATEGORY transport carrier
    SUBCELLULAR LOCALIZATION extracellular
        intracellular
    intracellular,cytoplasm,cytosolic
    basic FUNCTION
  • transporting oxygen and carbon dioxide between the lung and tissues
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    text oxygen transport
    PATHWAY
    metabolism
    signaling
    GATA1/ZFPM1/NuRD Pathway implicated in expression of HBB
    a component
  • heterodimer alpha beta forming a heterotetramer alpha2 beta2
    • 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
  • binding to alpha chain
  • 2-3 diphosphoglycerate binding specifically to the beta chains of hemoglobin in the T state (desoxy)
  • HIRA is not only critical for HBB expression but is also required for activation of the erythropoietic regulators KLF1 and GATA binding protein 1 (GATA1)
  • amount of KLF1 expression strongly positively correlates with HBB mRNA and weakly positively correlates with BCL11A mRNA
    • cell & other
    REGULATION
    repressed by SP1 during erythroid terminal differentiation
    Other autocatalytic RNA cleavage promoting transcription termination
    regulated by IKAROS (involved in the regulation of human globin gene switching) (Keys 2008)
    ASSOCIATED DISORDERS
    corresponding disease(s) BTHAL , HBOA , SICA
    related resource A Syllabus of Human Hemoglobin Variants & A Syllabus of Thalassaemia Mutations
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --low  
    age-down regulated in the frontal cortex
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS