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FLASH GENE
Symbol NOTCH2NLC contributors: mct - updated : 06-04-2022
HGNC name notch 2 N-terminal like C
HGNC id 31862
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • six N-terminal EGF-like domains encoded in NOTCH2NL, identical to those of the extracellular region of NOTCH2
  • in its carboxyl terminus, a unique 24-residue domain required for interaction with neutrophil elastase
  • HOMOLOGY
    intraspecies homolog to NOTCH2
    Homologene
    FAMILY
    CATEGORY regulatory
    SUBCELLULAR LOCALIZATION extracellular
        plasma membrane
        intracellular
    text
  • integral to membrane, distributed throughout the cell and secretet
  • basic FUNCTION
  • repressor of transcriptional activties of Notch proteins,
  • mutations of neutrophil elastase may impair its interactions withn NOTCH2 and NOTCN2NL, contributing to the pathogebesis of hereditary neutropenia
  • have different potencies to enhance NOTCH activity, and are possibly the product of ongoing evolutionary gene-dosage optimization of NOTCH pathway modulation
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    text repressor of transcriptional activities of Notch proteins
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule metal binding,
  • Ca2+
  • protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) ETM6 , LNINI , OPDM3
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS