Selected-GenAtlas references SOURCE GeneCards NCBI Gene Ensembl
HGNC UniGene Nucleotide OMIM UCSC
Home Page
FLASH GENE
Symbol NOTCH2NLC contributors: mct - updated : 06-04-2022
HGNC name notch 2 N-terminal like C
HGNC id 31862
Corresponding disease
ETM6 tremor, hereditary essential, 6
LNINI leukoencephalopathy with neuronal intranuclear inclusions
OPDM3 oculopharyngodistal myopathy 3
Location 1q21.2      Physical location : -
Synonym name
  • Notch homolog 2 N-terminal-like protein A
  • Synonym symbol(s) N2N, NOTCH2NL, ETM6, NIID, NOTCH2NLA
    DNA
    TYPE functioning gene
    STRUCTURE 81.21 kb     8 Exon(s)
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    5 - 8737 - 236 - 2019 31332381
    5 - 2182 - 293 - 2019 31332381
    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