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    Nmnat2 nicotinamide nucleotide adenylyltransferase 2 [ Mus musculus (house mouse) ]

    Gene ID: 226518, updated on 11-Apr-2024

    Summary

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    Official Symbol
    Nmnat2provided by MGI
    Official Full Name
    nicotinamide nucleotide adenylyltransferase 2provided by MGI
    Primary source
    MGI:MGI:2444155
    See related
    Ensembl:ENSMUSG00000042751 AllianceGenome:MGI:2444155
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    PNAT1; PNAT2; D030041I09Rik
    Summary
    Predicted to enable nicotinamide-nucleotide adenylyltransferase activity and nicotinate-nucleotide adenylyltransferase activity. Predicted to be involved in NAD biosynthetic process. Predicted to act upstream of or within pyridine nucleotide biosynthetic process. Located in late endosome; synapse; and trans-Golgi network. Is expressed in alimentary system; nervous system; and sensory organ. Orthologous to human NMNAT2 (nicotinamide nucleotide adenylyltransferase 2). [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Biased expression in cerebellum adult (RPKM 20.5), cortex adult (RPKM 13.6) and 6 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Nmnat2 in Genome Data Viewer
    Location:
    1 G3; 1 65.15 cM
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 1 NC_000067.7 (152830532..152995012)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 1 NC_000067.6 (152954781..153119266)

    Chromosome 1 - NC_000067.7Genomic Context describing neighboring genes Neighboring gene RIKEN cDNA 1700040K01 gene Neighboring gene STARR-seq mESC enhancer starr_02655 Neighboring gene ribosomal protein S2 pseudogene Neighboring gene STARR-seq mESC enhancer starr_02656 Neighboring gene STARR-seq mESC enhancer starr_02657 Neighboring gene STARR-seq mESC enhancer starr_02664 Neighboring gene STARR-seq mESC enhancer starr_02666 Neighboring gene STARR-seq mESC enhancer starr_02670 Neighboring gene ribosomal protein L5 pseudogene Neighboring gene laminin, gamma 2 Neighboring gene STARR-seq mESC enhancer starr_02673 Neighboring gene STARR-seq mESC enhancer starr_02677 Neighboring gene laminin, gamma 1 Neighboring gene STARR-seq mESC enhancer starr_02679 Neighboring gene STARR-positive B cell enhancer mm9_chr1:155135069-155135369 Neighboring gene STARR-positive B cell enhancer ABC_E5820 Neighboring gene STARR-positive B cell enhancer ABC_E2568 Neighboring gene predicted pseudogene 8818

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

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    Related articles in PubMed

    1. Loss-of-function approach using mouse retinal explants showed pivotal roles of Nmnat2 in early and middle stages of retinal development. Kuribayashi H, et al. Mol Biol Cell, 2023 Jan 1. PMID 36322391, Free PMC Article
    2. Macrophage depletion blocks congenital SARM1-dependent neuropathy. Dingwall CB, et al. J Clin Invest, 2022 Dec 1. PMID 36287209, Free PMC Article
    3. NMNAT2 is downregulated in glaucomatous RGCs, and RGC-specific gene therapy rescues neurodegeneration and visual function. Fang F, et al. Mol Ther, 2022 Apr 6. PMID 35114390, Free PMC Article
    4. Upregulated Nmnat2 causes neuronal death and increases seizure susceptibility in temporal lobe epilepsy. Wu H, et al. Brain Res Bull, 2021 Feb. PMID 33248200
    5. NMNAT2-mediated NAD(+) generation is essential for quality control of aged oocytes. Wu X, et al. Aging Cell, 2019 Jun. PMID 30909324, Free PMC Article

    See all (47) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. NMNAT2 supports vesicular glycolysis via NAD homeostasis to fuel fast axonal transport.
      Title: NMNAT2 supports vesicular glycolysis via NAD homeostasis to fuel fast axonal transport.
    2. Loss-of-function approach using mouse retinal explants showed pivotal roles of Nmnat2 in early and middle stages of retinal development.
      Title: Loss-of-function approach using mouse retinal explants showed pivotal roles of Nmnat2 in early and middle stages of retinal development.
    3. NMNAT2 is downregulated in glaucomatous RGCs, and RGC-specific gene therapy rescues neurodegeneration and visual function.
      Title: NMNAT2 is downregulated in glaucomatous RGCs, and RGC-specific gene therapy rescues neurodegeneration and visual function.
    4. Nmnat2 attenuates amyloidogenesis and up-regulates ADAM10 in AMPK activity-dependent manner.
      Title: Nmnat2 attenuates amyloidogenesis and up-regulates ADAM10 in AMPK activity-dependent manner.
    5. Upregulated Nmnat2 causes neuronal death and increases seizure susceptibility in temporal lobe epilepsy.
      Title: Upregulated Nmnat2 causes neuronal death and increases seizure susceptibility in temporal lobe epilepsy.
    6. Mitochondrial impairment activates the Wallerian pathway through depletion of NMNAT2 leading to SARM1-dependent axon degeneration.
      Title: Mitochondrial impairment activates the Wallerian pathway through depletion of NMNAT2 leading to SARM1-dependent axon degeneration.
    7. The data indicate a role for NMNAT2 in controlling redox homeostasis during oocyte maturation and uncover that NMNAT2- NAD(+) -SIRT1 is an important pathway mediating the effects of maternal age on oocyte developmental competence.
      Title: NMNAT2-mediated NAD(+) generation is essential for quality control of aged oocytes.
    8. NMNAT2 depletion in the dorsal root ganglion neurons caused Golgi fragmentation and axon degeneration.
      Title: Nicotinamide Mononucleotide Adenylyltransferase 2 maintains neuronal structural integrity through the maintenance of golgi structure.
    9. Data reveal that reducing NMNAT2 levels below a particular threshold compromises the development of peripheral axons and increases their vulnerability to stresses.
      Title: Low levels of NMNAT2 compromise axon development and survival.
    10. the deregulated expression of Nmnat2 appears to have a great influence on the cellular stress in the spinal cord of wobbler mice.
      Title: Increased ROS Level in Spinal Cord of Wobbler Mice due to Nmnat2 Downregulation.
    Submit: New GeneRIF Correction See all GeneRIFs (22)

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)

    Pathways from PubChem

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    General gene information

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    Markers

    Homology

    Clone Names

    • MGC113818

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables ATP binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables catalytic activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables nicotinamide-nucleotide adenylyltransferase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables nicotinate-nucleotide adenylyltransferase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables nicotinate-nucleotide adenylyltransferase activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables nucleotide binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables nucleotidyltransferase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein ADP-ribosyltransferase-substrate adaptor activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables transferase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in NAD biosynthetic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in NAD biosynthetic process ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in negative regulation of cytoplasmic translation ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within pyridine nucleotide biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    is_active_in Golgi apparatus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in Golgi apparatus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in Golgi apparatus ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in cell projection IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in cytoplasmic vesicle IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in cytosol ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in late endosome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in synapse IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in trans-Golgi network IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    nicotinamide/nicotinic acid mononucleotide adenylyltransferase 2
    Names
    NMN adenylyltransferase 2
    NMN/NaMN adenylyltransferase 2
    blad
    naMN adenylyltransferase 1
    naMN adenylyltransferase 2
    nicotinamide mononucleotide adenylyltransferase 2
    nicotinate-nucleotide adenylyltransferase 1
    nicotinate-nucleotide adenylyltransferase 2
    protein bloated bladder
    pyridine nucleotide adenylyltransferase 2
    NP_001405031.1
    NP_001405032.1
    NP_780669.1
    XP_006529519.1

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001418102.1 → NP_001405031.1  nicotinamide/nicotinic acid mononucleotide adenylyltransferase 2 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC099735, AC110038

    2. NM_001418103.1 → NP_001405032.1  nicotinamide/nicotinic acid mononucleotide adenylyltransferase 2 isoform 3

      Status: VALIDATED

      Source sequence(s)
      AC099735

    3. NM_175460.4 → NP_780669.1  nicotinamide/nicotinic acid mononucleotide adenylyltransferase 2 isoform 1

      See identical proteins and their annotated locations for NP_780669.1

      Status: VALIDATED

      Source sequence(s)
      AC099735, AC110038
      Consensus CDS
      CCDS15368.1
      UniProtKB/Swiss-Prot
      Q8BNJ3
      UniProtKB/TrEMBL
      A0A087WRE3, Q5HZI3
      Related
      ENSMUSP00000041110.9, ENSMUST00000043313.15
      Conserved Domains (1) summary
      cd09286
      Location:9 → 302
      NMNAT_Eukarya; Nicotinamide/nicotinate mononucleotide adenylyltransferase, Eukaryotic

    RNA

    1. NR_184685.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC099735, AC110038
      Related
      ENSMUST00000186368.7

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000067.7 Reference GRCm39 C57BL/6J

      Range
      152830532..152995012
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006529456.4 → XP_006529519.1  nicotinamide/nicotinic acid mononucleotide adenylyltransferase 2 isoform X2

      UniProtKB/TrEMBL
      A0A087WRE3
      Conserved Domains (1) summary
      cl00015
      Location:9 → 237
      nt_trans; nucleotidyl transferase superfamily

    RNA

    1. XR_387163.4 RNA Sequence

    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8BNJ3.1 GenPept UniProtKB/Swiss-Prot:Q8BNJ3

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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