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FLASH GENE
Symbol BTC contributors: mct - updated : 30-03-2016
HGNC name betacellulin
HGNC id 1121
Location 4q13.3      Physical location : 75.671.447 - 75.719.882
DNA
TYPE functioning gene
STRUCTURE 49.91 kb     6 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked   status provisional
Physical map
CXCL6 4q21 chemokine (C-X-C motif) ligand 6 (granulocyte chemotactic protein 2) PF4V1 4q13-q21 platelet factor 4 variant 1 CXCL1 4q21 chemokine (C-X-C motif) ligand 1 (melanoma growth stimulating activity, alpha) CXCL1P 4q21.21 chemokine (C-X-C motif) ligand 1 pseudogene PF4 4q13-q21 platelet factor 4 (chemokine (C-X-C motif) ligand 4) PPBP 4q12-q13 pro-platelet basic protein (chemokine (C-X-C motif) ligand 7) CXCL5 4q13-q21 chemokine (C-X-C motif) ligand 5 CXCL3 4q21 chemokine (C-X-C motif) ligand 3 SPBPBP 4q21.21 DNA-binding protein amplifying expression of surfactant protein B CXCL2 4q21 chemokine (C-X-C motif) ligand 2 LOC255324 4q21.21 similar to ALGV3072 EREG 4q25-q26 epiregulin AREG 4q13-q21 amphiregulin (schwannoma-derived growth factor) BTC 4q13-q21 betacellulin DKFZP564O0823 4q13.3-q21.3 DKFZP564O0823 protein FLJ23604 4q21.21 hypothetical protein FLJ23604 ZNF363 4q21.1 zinc finger protein 363 THAP6 4q21.21 THAP domain containing 6 FLJ23657 4q21.21 hypothetical protein FLJ23657 CDKL2 4q21.21 cyclin-dependent kinase-like 2 (CDC2-related kinase) G3BP2 4q12-q21.1 cyclin-dependent kinase-like 2 (CDC2-related kinase)
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
6 - 1323 - 178 - 2012 22183345
- - 2680 - 129 - 2012 22183345
EXPRESSION
Type restricted
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Digestiveintestinesmall intestine   
 liver    
 stomach    
Endocrinepancreas   highly
Nervousbraindiencephalonhypothalamus  
Reproductivefemale systemovary   
Urinarykidney    
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Epithelialsecretoryglandularendocrine 
Epithelialsecretoryglandularexocrine 
cells
SystemCellPubmedSpeciesStageRna symbol
Respiratoryepithelial cell
cell lineage
cell lines
fluid/secretion
at STAGE
physiological period embryo, fetal
Text primitive neurectoderm, fetal pancreas
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
one EGF-like domain
mono polymer monomer
isoforms Precursor synthesized primarily as a transmembrane precursor, which is then processed to mature molecule by proteolytic events
HOMOLOGY
interspecies homolog to murine Btc
Homologene
FAMILY epidermal growth factor family
CATEGORY signaling growth factor
SUBCELLULAR LOCALIZATION extracellular
    plasma membrane
    intracellular
basic FUNCTION
  • potent mitogen for retinal pigment epithelial cells and vascular smooth muscle cells
  • playing a role in islet neogenesis and regeneration
  • inhibits osteogenic differentiation and stimulates proliferation through HIF1A
  • having mitogenic properties for the retinal pigment epithelial cells
  • exerts proliferative activity on beta cells through the activation of EGFR and ERBB2 receptors, which may increase IRS2 expression, contributing to the regeneration of beta cells
  • induces expansion of Neural stem cells (NSCs) and neuroblasts, and promotes neurogenesis in the olfactory bulb and dentate gyrus
  • role for BTC in the differentiation of pancreatic beta-cells,and with a large number of additional biological processes, ranging from reproduction to the control of neural stem cells
  • may act as a potential target to monitor and improve the development of lung cancer inflammation
  • unique role for BTC mistrafficking in promoting epithelial reorganization
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • ligand for the EGF receptor
  • interacting with ADAM10 (mediates ectodomain shedding of the betacellulin precursor)
  • acts via both the EGF receptor, located on Neural stem cells (NSCs), and ERBB4, located on neuroblasts, with the latter explaining why its effects are distinct from those of EGF itself
  • AREG, BTC, and EREG induced prostaglandin E2 (PGE2) production by upregulating PTGS2 expression through ERK1/2 signaling in granulosa cells
  • is a new ligand of the epidermal growth factor receptor (EGFR)
  • bind and activate all possible heterodimeric combinations of the related ERBB receptors including the highly oncogenic ERBB2/3 dimer, as well as homodimers of ERBB4
  • binds and activates EGFR and ERBB4 homodimers
  • BTC significantly increased the production of IL8 through the activation of the EGFR-PI3K/Akt-Erk signal pathway in lung cancer cells
  • NGF is an important regulator for the synthesis and secretion of Activin-A and BTC from the beta cells
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --over  
    of the active soluble form in retinas from patients with diabetic retinopathy
    Susceptibility
  • to type 2 diabetes in African Americans
  • type 1 diabetes mellitus (T1DM)
  • Variant & Polymorphism other
  • exon 1 Cys7Gly polymorphism associated with type 2 diabetes in African Americans
  • intron 4 T-4 allele is associated with lower risk of T1DM and may interact with HLA
  • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS