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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
EXPRESSION
Type ubiquitous
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Cardiovascularheart   moderately
Reproductivefemale systembreastmammary gland highly
 female systemuteruscervix moderately
Urinarybladder   predominantly
cell lineage
cell lines
fluid/secretion blood
at STAGE
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