Selected-GenAtlas references SOURCE GeneCards NCBI Gene Swiss-Prot Ensembl
HGNC UniGene Nucleotide OMIM UCSC
Home Page
FLASH GENE
Symbol NMNAT2 contributors: mct - updated : 05-10-2016
HGNC name nicotinamide nucleotide adenylyltransferase 2
HGNC id 16789
Location 1q25.3      Physical location : 183.217.378 - 183.387.737
Synonym name
  • chromosome 1 open reading frame 15
  • KIAA0479 protein
  • Synonym symbol(s) PNAT2, PNAT-2, C1orf15, MGC2756, KIAA0479
    EC.number 2.7.7.1/ 2.7.7.18
    DNA
    TYPE functioning gene
    STRUCTURE 170.26 kb     12 Exon(s)
    Genomic sequence alignment details
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    Physical map
    LOC127665 1q25.2 similar to zinc finger protein 135 (clone pHZ-17); zinc finger protein 61 LOC388718 1 similar to Protein translation factor SUI1 homolog (Sui1iso1) GLUL 1q31 glutamate-ammonia ligase (glutamine synthase) HE9 1q25.2 putative membrane protein HE9 LOC388719 1 hypothetical gene supported by AF508909 LOC127671 1q25.2 similar to CE9 protein RGSL2 1q25.2 regulator of G-protein signalling like 2 RGSL1  regulator of G-protein signalling like 1 RNASEL 1q25 ribonuclease L (2',5'-oligoisoadenylate synthetase-dependent) RGS16 1q25-q31 regulator of G-protein signalling 16 RGS8 1q25-q31 regulator of G-protein signalling 8 NPL 1q25 N-acetylneuraminate pyruvate lyase (dihydrodipicolinate synthase) DHX9 1q25 DEAH (Asp-Glu-Ala-His) box polypeptide 9 C1orf14 1q25-q31 chromosome 1 open reading frame 14 LOC391143 1 similar to natural cytotoxicity triggering receptor 1; lymphocyte antigen 94 (mouse) homolog (activating NK-receptor; NK-p46); lymphocyte antigen 94 (mouse) homolog (activating NK-receptor ; NK-p46); lymphocyte antigen 94 homolog, a LOC343326 1q25.2 similar to Keratin, type I cytoskeletal 18 (Cytokeratin 18) (K18) (CK 18) LAMC1 1q31 laminin, gamma 1 (formerly LAMB2) LAMC2 1q25-q31 laminin, gamma 2 NMNAT2 1q25-q31 nicotinamide nucleotide adenylyltransferase 2 C1orf16 1q25-q31 chromosome 1 open reading frame 16 NCF2 1q25 neutrophil cytosolic factor 2 (65kDa, chronic granulomatous disease, autosomal 2) ARPC5 1q25.2 actin related protein 2/3 complex, subunit 5, 16kDa RGL 1q25.2 actin related protein 2/3 complex, subunit 5, 16kDa C1orf17 1q25-q31 chromosome 1 open reading frame 17 C1orf19 1q25-q31 chromosome 1 open reading frame 19 LOC391144 1 similar to Rho-GTPase-activating protein 8 C1orf21 1q25-q31 chromosome 1 open reading frame 21 C1orf22 1q24-q25 chromosome 1 open reading frame 22 C1orf24 1q25-q31 chromosome 1 open reading frame 24
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    11 initiation site 5579 34.4 307 - 2002 12359228
    11 initiation site 5467 34 302 - 2002 12359228
  • having a different, inframe 5' end exon compared to variant 1
  • EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart   highly Homo sapiens
    Endocrinepancreas     Homo sapiens
    Hearing/Equilibriumearinnercochlea  
    Nervousbraindiencephalonamygdala specific Homo sapiens
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Muscularstriatumskeletal   Homo sapiens
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Endocrineislet cell (alpha,beta...) Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    mono polymer homomer , tetramer
    HOMOLOGY
    intraspecies homolog to NMNAT2
    Homologene
    FAMILY nicotinamide mononucleotide adenylyltransferase (NMNAT) enzyme family
    CATEGORY chaperone/stress , enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,Golgi
    intracellular,cytoplasm,organelle,endosome
    text
  • NMNAT2 is localized to the Golgi complex
  • basic FUNCTION
  • catalyzing an essential step in NAD (NADP) biosynthetic pathway
  • brain-specific NMNAT2 delays injury-induced axon degeneration dependent on its NAD synthesis activity
  • endogenous NMNAT2 prevents spontaneous degeneration of healthy axons
  • NMNAT1, NMNAT2, NMNAT3 catalyzes the formation of nicotinamide adenine dinucleotide
  • is a neuronal protein peripherally attached to membranes via palmitoylation, suggesting that NMNAT2 is transported to synaptic terminals via an endosomal pathway
  • NMNAT2 activity supports axon survival through a site of action distinct from NMNAT2 transport vesicles and protein stability, a key determinant of axon protection, is enhanced by mutations that disrupt palmitoylation and dissociate NMNAT2 from these vesicles
  • is a critical survival factor for axons
  • NMNAT2 localisation and turnover are a valuable target for modulating axon degeneration
  • requirement for NMNAT2 in axon maintenance even during development
  • important functional role of NMNAT2 in TP53-mediated signaling
  • is a critical survival factor for axons and its constant supply from neuronal cell bodies into axons is required for axon extension
  • having a chaperone function, independent from its enzymatic activity
  • exerts its chaperone or enzymatic function in a context-dependent manner to maintain neuronal health
  • acts not only as a NAD synthase involved in axonal maintenance but as a molecular chaperone helping neurons to overcome protein unfolding and protein aggregation
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism cofactor
    signaling
    NAD (NADP) biosynthetic pathway
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • NMNAT2 affects MAPT phosphorylation by regulating PPP2CA activity
  • NMNAT2, a NAD(+) synthetase, is a novel downstream target gene of TP53
  • absence of SARM1 rescues development and survival of NMNAT2-deficient axons
  • NMNAT2 complexes with heat shock protein 90 (HSP90AA1) to refold aggregated protein substrates
  • cell & other
    REGULATION
    Other palmitoylation is necessary to target NMNAT2 to post-Golgi vesicles, thereby influencing its protein turnover and axon protective capacity
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --low  
    may contribute to axon degeneration in a variety of neurodegenerative disorders
    constitutional     --low  
    during cardiac hypertrophy
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    neurologyneurodegenerative 
    endogenous NMNAT2 represents an exciting new therapeutic target for axonal disorders
    cardiovascularcardiomyopathy 
    modulation of NMNAT2 activity may be beneficial in cardiac hypertrophy
    ANIMAL & CELL MODELS