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    NMNAT2 nicotinamide nucleotide adenylyltransferase 2 [ Homo sapiens (human) ]

    Gene ID: 23057, updated on 5-Mar-2024

    Summary

    Official Symbol
    NMNAT2provided by HGNC
    Official Full Name
    nicotinamide nucleotide adenylyltransferase 2provided by HGNC
    Primary source
    HGNC:HGNC:16789
    See related
    Ensembl:ENSG00000157064 MIM:608701; AllianceGenome:HGNC:16789
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    PNAT2; C1orf15
    Summary
    This gene product belongs to the nicotinamide mononucleotide adenylyltransferase (NMNAT) enzyme family, members of which catalyze an essential step in NAD (NADP) biosynthetic pathway. Unlike the other human family member, which is localized to the nucleus, and is ubiquitously expressed; this enzyme is cytoplasmic, and is predominantly expressed in the brain. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
    Expression
    Biased expression in brain (RPKM 32.6), heart (RPKM 7.5) and 5 other tissues See more
    Orthologs
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    Genomic context

    See NMNAT2 in Genome Data Viewer
    Location:
    1q25.3
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (183248237..183418380, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (182607574..182777689, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (183217372..183387515, complement)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene RNA, U6 small nuclear 41, pseudogene Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:182990015-182990514 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:182991252-182991807 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:182991808-182992362 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1625 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:182992918-182993471 Neighboring gene MPRA-validated peak499 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1627 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2210 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2209 Neighboring gene Sharpr-MPRA regulatory region 7713 Neighboring gene laminin subunit gamma 1 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:183128249-183128750 Neighboring gene LAMC1 antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2211 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr1:183154769-183155968 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2212 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:183197656-183197861 Neighboring gene Sharpr-MPRA regulatory region 7016 Neighboring gene Sharpr-MPRA regulatory region 596 Neighboring gene laminin subunit gamma 2 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:183247773-183248584 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:183248585-183249395 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1629 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2213 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:183271685-183272658 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:183272659-183273632 Neighboring gene RPS3A pseudogene 8 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:183300194-183300759 Neighboring gene Sharpr-MPRA regulatory region 8277 Neighboring gene uncharacterized LOC105371646 Neighboring gene MPRA-validated peak501 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1630 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:183440685-183441316 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1631 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2214 Neighboring gene SMG7 antisense RNA 1 Neighboring gene SMG7 nonsense mediated mRNA decay factor Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1632

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    EBI GWAS Catalog

    Description
    A systemic sclerosis and systemic lupus erythematosus pan-meta-GWAS reveals new shared susceptibility loci.
    EBI GWAS Catalog
    Clozapine-induced agranulocytosis is associated with rare HLA-DQB1 and HLA-B alleles.
    EBI GWAS Catalog
    Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • MGC2756, KIAA0479

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ATP binding 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 IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables protein ADP-ribosyltransferase-substrate adaptor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in NAD biosynthetic process IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in NAD biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in axon development ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    involved_in negative regulation of cytoplasmic translation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in nucleotide biosynthetic process IC
    Inferred by Curator
    more info
    PubMed 
    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 membrane TAS
    Traceable Author Statement
    more info
     
    located_in axon IEA
    Inferred from Electronic Annotation
    more info
     
    located_in cytoplasmic vesicle membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
     
    located_in late endosome IEA
    Inferred from Electronic Annotation
    more info
     
    located_in synapse IEA
    Inferred from Electronic Annotation
    more info
     
    located_in trans-Golgi network IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    nicotinamide/nicotinic acid mononucleotide adenylyltransferase 2
    Names
    NMN adenylyltransferase 2
    NMN/NaMN adenylyltransferase 2
    NaMN adenylyltransferase 2
    nicotinamide mononucleotide adenylyltransferase 2
    nicotinate-nucleotide adenylyltransferase 2
    pyridine nucleotide adenylyltransferase 2
    NP_055854.1
    NP_733820.1
    XP_054191247.1
    XP_054191248.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_015039.4NP_055854.1  nicotinamide/nicotinic acid mononucleotide adenylyltransferase 2 isoform 1

      See identical proteins and their annotated locations for NP_055854.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AF288395, AL354953, BI493003
      Consensus CDS
      CCDS1353.1
      UniProtKB/Swiss-Prot
      O75067, Q5T1Q3, Q8WU99, Q96QW1, Q9BZQ4
      UniProtKB/TrEMBL
      A8K5S5
      Related
      ENSP00000287713.6, ENST00000287713.7
      Conserved Domains (1) summary
      cd09286
      Location:9302
      NMNAT_Eukarya; Nicotinamide/nicotinate mononucleotide adenylyltransferase, Eukaryotic
    2. NM_170706.4NP_733820.1  nicotinamide/nicotinic acid mononucleotide adenylyltransferase 2 isoform 2

      See identical proteins and their annotated locations for NP_733820.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (2) has a shorter and distinct N-terminus compared to isoform 1.
      Source sequence(s)
      AL354953, BC020998, BI493003
      Consensus CDS
      CCDS1354.1
      UniProtKB/TrEMBL
      A8K5S5
      Related
      ENSP00000294868.4, ENST00000294868.8
      Conserved Domains (1) summary
      cd09286
      Location:24297
      NMNAT_Eukarya; Nicotinamide/nicotinate mononucleotide adenylyltransferase, Eukaryotic

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      183248237..183418380 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      182607574..182777689 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054335272.1XP_054191247.1  nicotinamide/nicotinic acid mononucleotide adenylyltransferase 2 isoform X1

    2. XM_054335273.1XP_054191248.1  nicotinamide/nicotinic acid mononucleotide adenylyltransferase 2 isoform X1