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FLASH GENE
Symbol ERC2 contributors: mct/npt - updated : 02/10/2008
HGNC name ELKS/RAB6-interacting/CAST family member 2
HGNC id 31922
Location 3p14.3      Physical location : 55.542.335 - 56.502.391
Synonym name
  • CAZ-associated structural protein
  • cytomatrix protein p110
    • Synonym symbol(s) CAST, CAST1, ELKSL, KIAA0378, MGC133063, MGC133064, SPBC110, Spc110
    DNA
    TYPE functioning gene
    STRUCTURE 960.06 kb     22 Exon(s)
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    22 - 6138 110.6 957 - Takao-Rikitsu (2004)
    EXPRESSION
    Type restricted
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Endocrineneuroendocrinepituitary  highly
    Nervousbrain   highly
     nerve   highly
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • four coiled-coil domains
  • a putative COOH-terminal consensus motif for binding to PDZ domains
    • HOMOLOGY
    Homologene
    FAMILY
    CATEGORY regulatory
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytoskeleton
    text localized at the base of synaptic ribbons, whereas ERC1 localized around the ribbons
    basic FUNCTION
  • protein of the cytomatrix at the active zone of synapses that forms a ternary complex with RIMS1 and UNC13A
  • serves as a key component of the CAZ structure and is involved in neurotransmitter release by binding these CAZ proteins
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • forms a large molecular complex with other CAZ proteins, including RIMS1, UNC13B, Bassoon, and Piccolo
    • INTERACTION
    DNA
    RNA
    small molecule
    protein bound directly RIMS1 and indirectly UNC13A, presumably through RIMS1, forming a ternary complex
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --other  
    aberrantly methylated promoter associated CpG islands in acute lymphocytic leukemia (Kuang 2008)
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS