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Symbol NAALADL2 contributors: mct/npt - updated : 15-10-2020
HGNC name N-acetylated alpha-linked acidic dipeptidase-like 2
HGNC id 23219
Corresponding disease
DUP3QD chromosome 3q distal duplication, including 3q26-q27
Location 3q26.31      Physical location : 174.577.110 - 175.523.426
Synonym name
  • N-acetylated alpha-linked acidic dipeptidase 2
  • NAALADase L2
  • EC.number 3.4.17.21
    DNA
    TYPE functioning gene
    STRUCTURE 1372.01 kb     14 Exon(s)
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    14 - 9807 - 795 - 2004 15168106
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart    
    Digestiveliver    
    Urinarykidney    
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Muscularstriatumskeletal  
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period embryo, pregnancy
    Text placenta, mainly confined to duodenal and stomach endoderm, mesonephros, metanephros and pancreas
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    mono polymer monomer
    HOMOLOGY
    interspecies ortholog to murine Naladl2
    Homologene
    FAMILY
  • biotin--protein ligase family
  • glutamate carboxypeptidase II family
  • CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,nucleus,nucleoplasm
    text
  • localized at the basal cell surface where it promotes adhesion to extracellular matrix proteins
  • basic FUNCTION
  • activating biotin to form biotinyl-5'- adenylate and transfers the biotin moiety to biotin-accepting proteins
  • peptidase activity
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) DUP3QD
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --low  
    significantly decreased in the tissues of patients with inflammatory bowel disease (IBD) and intestinal Behçet’s disease (BD) compared to those in control tissues
    tumoral     --over  
    in colon and prostate tumours when compared with benign tissue
    Susceptibility
  • to Kawasaki disease (KD)
  • to intestinal Behçet's disease
  • Variant & Polymorphism SNP
  • rs17531088 significantly associated to KS (Burgner 2009)
  • NAALADL2 gene locus (rs3914501),is associated with intestinal Behçet's disease
  • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS