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FLASH GENE
Symbol NRG2 contributors: - updated : 22-02-2006
HGNC name neuregulin 2
HGNC id 7998
Corresponding disease
DEL5Q31.3 chromosome 5q31.3 microdeletion
Location 5q23-q33      Physical location : 139.226.363 - 139.422.884
Synonym name neural and thymus derived activator for the ErbB kinase
Synonym symbol(s) NTAK, DON1
DNA
TYPE functioning gene
STRUCTURE 55.00 kb     12 Exon(s)
10 Kb 5' upstream gene genomic sequence study
regulatory sequence Binding site   transcription factor
text structure TFIIIA, SP1, AP2, YY1 transcription factors binding sites and a GC box sequence instead of a TATA box
MAPPING cloned Y linked N status provisional
Map see CMT4C
RNA
TRANSCRIPTS type messenger
text with several alternatively spliced variants, alpha and beta forms (Ring)
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
- splicing 3020 - 850 - Carraway
lacks exons 6, 7
- splicing 3002 - 844 brain, heart Carraway
lacks exons 5, 7
- splicing 3044 - 858 hippocampus, cerebellum, spinal cord Carraway
excludes exon 6
- splicing 3026 - 852 olfactory bulb Carraway
excludes exon 5
- splicing 1576 - 426 liver only Carraway
excludes exons 7, 9-12
- splicing 1497 - 422 liver only Carraway
excludes exons 8-12
- - - - - in all tissues including the brain Nakano
  • having complete EGF-like domain motifs, which have consensus sequences containing three disulfide bonds
  • induce phosphorylation in ERBB3, transactivate ERBB2,stimulate the growth of endothelial cells, because endothelial cells have ERBB2, ERBB3, and ERBB4 and stimulate growth of breast cancer cells
  • - - - - - restricted to the brain Nakano
  • have complete EGF-like domain motifs, which have consensus sequences containing three disulfide bonds
  • induce phosphorylation in ERBB4, transactivate ERBB2, stimulate the growth of endothelial cells, because endothelial cells have ERBB2, ERBB3, and ERBB4 and stimulate growth of breast cancer cells
  • - - - - - - Nakano
  • an incomplete EGF-like domain, which does not have the third cysteine loop
  • inhibiting angiogenesis
  • - - - - - expressed in neuroblastoma cell line Nakano
  • same N-terminal part, including the Ig-like domain, as the other isoforms but is missing the EGF-like domain
  • causing G1 arrest in vascular endothelial cells and inhibiting angiogenesis
  • EXPRESSION
    Type
    constitutive of
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Nervousbrain    
    Respiratorylung    
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Nervousneuron
    NervousSchwann cell
    cell lineage
    cell lines neuroblastoma
    fluid/secretion
    at STAGE
    physiological period fetal, pregnancy
    Text developing heart
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • an immunoglobulin domain
  • an EGF-like domain
  • a ser/thr rich domain
  • a transmembrane region (lacking in isoforms 5 and 6)
  • conjugated GlycoP
    HOMOLOGY
    interspecies homolog to rattus LOC291668
    homolog to murine LOC381149
    Homologene
    FAMILY epidermal growth factor (EGF) family
    CATEGORY regulatory , receptor membrane ligand ion channel
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    text membrane-bound or soluble form
    basic FUNCTION
  • involved in growth and differentiation of epithelial, neuronal, glial and other cell types
  • ligand of Erb3/Erb4 receptor tyrosine kinase
  • recruits ERBB1 and ERBB2 and may promote the heterodimerization with the EGF receptor
  • promotes cell death of prostate cancer cells
  • may be a signal that regulates synaptic differentiation
  • CELLULAR PROCESS cell life, differentiation
    cell life, proliferation/growth
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling signal transduction
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein binding directly to ERBB3 and ERBB4 and transactivating ERBB2
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) DEL5Q31.3
    Susceptibility
    Variant & Polymorphism
    Candidate gene candidate agents for suppression of tumor growth and metastasis
    Marker
    Therapy target
    ANIMAL & CELL MODELS