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FLASH GENE
Symbol CHGB contributors: mct/pgu - updated : 08-06-2013
HGNC name chromogranin B (secretogranin 1)
HGNC id 1930
Location 20p12.3      Physical location : 5.891.973 - 5.906.003
Synonym name
  • secretogranin 1
  • catecholamine and norepenephrine secretory protein
  • Synonym symbol(s) SCG1
    DNA
    TYPE functioning gene
    STRUCTURE 14.03 kb     5 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status confirmed
    Map cen - D20S192 - BMP2 - CHGB - D20S115 - PLCB4 - D20S117 - qter
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    5 - 2666 - 677 - 2003 1450624
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Endocrineadrenal gland   highly
     neuroendocrinepituitary  predominantly
     pancreas   highly
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES acid
    STRUCTURE
    motifs/domains
  • a N-terminal domain (N-CGB), binding to the third intraluminal loop of the ITPR and inhibits binding of full-length CHGB
  • a C-terminal domain (C-CGB), critical component in modulating ITPR-dependent calcium signaling
  • HOMOLOGY
    Homologene
    FAMILY
  • chromogranin/secretogranin protein family
  • granin family
  • CATEGORY secretory , storage
    SUBCELLULAR LOCALIZATION extracellular
        intracellular
    intracellular,cytoplasm,organelle,lumen
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    intracellular,cytoplasm,cytosolic,inclusion
    intracellular,cytoplasm,cytosolic,granule
    text
  • found in secretory granules and in the lumen of the endoplasmic reticulum
  • basic FUNCTION
  • acidic protein of secretory granules, binding calcium and aggregating in its presence
  • involved in the transcription control in the nucleus
  • low affinity calcium (Ca2+) storage proteins found in many cell types, most often associated with secretory granules of secretory cells but also with the endoplasmic reticulum (ER) lumen of these cells
  • may play an important modulatory role in the control of Ca2+ release from the ER, and could influence the pattern of INSP3-mediated Ca2+ release
  • may act as a susceptibility gene and modifier of onset in ALS (consistent with the emerging view that dysfunction of the secretory pathway may contribute to increased vulnerability of motor neurons)
  • CHGB, like CHGA, is a highly efficient system directly involved in monoamine accumulation and in the kinetics of exocytosis from large dense core secretory vesicles
  • CHGA, CHGB are involved in granulogenesis and protein sorting
  • essential for adequate secretion of islet hormones
  • CHGA, CHGB are regulators of vesicle cargo and exocytosis
  • CHGA, CHGB are the main soluble proteins in the large dense core secretory vesicles (LDCVs) found in aminergic neurons and chromaffin cells
  • involved in defining the magnitude and initiation site of calcium signals
  • role in the maintenance and modulation of calcium signaling, as well as in granule biogenesis
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule metal binding,
  • Ca2+
  • protein
  • aggregating in its presence, granin family
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Susceptibility
  • to schizophrenia
  • to both sporadic ALS and familial ALS cases
  • Variant & Polymorphism other
  • involved in the susceptibility to schizophrenia
  • P413L CHGB variant is associated with an earlier age of onset by almost a decade in both sporadic ALS and familial ALS cases
  • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS