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Aliases for NMNAT2 Gene

Aliases for NMNAT2 Gene

  • Nicotinamide Nucleotide Adenylyltransferase 2 2 3
  • Nicotinamide Mononucleotide Adenylyltransferase 2 3 4
  • Nicotinate-Nucleotide Adenylyltransferase 2 3 4
  • NMN/NaMN Adenylyltransferase 2 3 4
  • NaMN Adenylyltransferase 2 3 4
  • NMN Adenylyltransferase 2 3 4
  • KIAA0479 4 6
  • C1orf15 3 4
  • PNAT2 3 6
  • Nicotinamide/Nicotinic Acid Mononucleotide Adenylyltransferase 2 3
  • Pyridine Nucleotide Adenylyltransferase 2 3
  • Chromosome 1 Open Reading Frame 15 2
  • EC 2.7.7.18 4
  • EC 2.7.7.1 4

External Ids for NMNAT2 Gene

Previous HGNC Symbols for NMNAT2 Gene

  • C1orf15

Previous GeneCards Identifiers for NMNAT2 Gene

  • GC01M179737
  • GC01M180456
  • GC01M179951
  • GC01M181483
  • GC01M154453

Summaries for NMNAT2 Gene

Entrez Gene Summary for NMNAT2 Gene

  • 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]

GeneCards Summary for NMNAT2 Gene

NMNAT2 (Nicotinamide Nucleotide Adenylyltransferase 2) is a Protein Coding gene. Among its related pathways are Disease and Metabolism. GO annotations related to this gene include nicotinate-nucleotide adenylyltransferase activity and nicotinamide-nucleotide adenylyltransferase activity. An important paralog of this gene is NMNAT3.

UniProtKB/Swiss-Prot for NMNAT2 Gene

  • Catalyzes the formation of NAD(+) from nicotinamide mononucleotide (NMN) and ATP. Can also use the deamidated form; nicotinic acid mononucleotide (NaMN) as substrate but with a lower efficiency. Cannot use triazofurin monophosphate (TrMP) as substrate. Also catalyzes the reverse reaction, i.e. the pyrophosphorolytic cleavage of NAD(+). For the pyrophosphorolytic activity prefers NAD(+), NADH and NaAD as substrates and degrades nicotinic acid adenine dinucleotide phosphate (NHD) less effectively. Fails to cleave phosphorylated dinucleotides NADP(+), NADPH and NaADP(+).

Gene Wiki entry for NMNAT2 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for NMNAT2 Gene

Genomics for NMNAT2 Gene

Regulatory Elements for NMNAT2 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for NMNAT2 Gene

Start:
183,248,237 bp from pter
End:
183,418,602 bp from pter
Size:
170,366 bases
Orientation:
Minus strand

Genomic View for NMNAT2 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for NMNAT2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NMNAT2 Gene

Proteins for NMNAT2 Gene

  • Protein details for NMNAT2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9BZQ4-NMNA2_HUMAN
    Recommended name:
    Nicotinamide/nicotinic acid mononucleotide adenylyltransferase 2
    Protein Accession:
    Q9BZQ4
    Secondary Accessions:
    • O75067
    • Q5T1Q3
    • Q8WU99
    • Q96QW1

    Protein attributes for NMNAT2 Gene

    Size:
    307 amino acids
    Molecular mass:
    34439 Da
    Cofactor:
    Name=Mg(2+); Xref=ChEBI:CHEBI:18420; Note=Divalent metal cations. Mg(2+) confers the highest activity.;
    Quaternary structure:
    • Monomer.
    SequenceCaution:
    • Sequence=BAA32324.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for NMNAT2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for NMNAT2 Gene

Proteomics data for NMNAT2 Gene at MOPED

Post-translational modifications for NMNAT2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for NMNAT2 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for NMNAT2 Gene

Domains for NMNAT2 Gene

Protein Domains for NMNAT2 Gene

Suggested Antigen Peptide Sequences for NMNAT2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9BZQ4

UniProtKB/Swiss-Prot:

NMNA2_HUMAN :
  • Q9BZQ4
Family:
  • Belongs to the eukaryotic NMN adenylyltransferase family.
genes like me logo Genes that share domains with NMNAT2: view

No data available for Gene Families for NMNAT2 Gene

Function for NMNAT2 Gene

Molecular function for NMNAT2 Gene

UniProtKB/Swiss-Prot BiophysicochemicalProperties: Kinetic parameters: KM=32 uM for NMN {ECO:0000269 PubMed:16118205, ECO:0000269 PubMed:17402747}; KM=70 uM for NAD(+) {ECO:0000269 PubMed:16118205, ECO:0000269 PubMed:17402747}; KM=204 uM for ATP {ECO:0000269 PubMed:16118205, ECO:0000269 PubMed:17402747}; KM=1119 uM for PPi {ECO:0000269 PubMed:16118205, ECO:0000269 PubMed:17402747}; KM=14.5 uM for NaMN {ECO:0000269 PubMed:16118205, ECO:0000269 PubMed:17402747}; KM=304 uM for NMNH {ECO:0000269 PubMed:16118205, ECO:0000269 PubMed:17402747}; Vmax=1.1 umol/min/mg enzyme for NAD synthesis {ECO:0000269 PubMed:16118205, ECO:0000269 PubMed:17402747}; Vmax=3 umol/min/mg enzyme for pyrophosphorolytic NAD(+) cleavage {ECO:0000269 PubMed:16118205, ECO:0000269 PubMed:17402747}; Vmax=7 umol/min/mg enzyme for pyrophosphorolytic NADH cleavage {ECO:0000269 PubMed:16118205, ECO:0000269 PubMed:17402747}; Note=KM is >100 uM for triazofurin monophosphate.; pH dependence: Optimum pH is 6.0-9.0. {ECO:0000269 PubMed:12359228, ECO:0000269 PubMed:16118205, ECO:0000269 PubMed:17402747};
UniProtKB/Swiss-Prot CatalyticActivity: ATP + nicotinamide ribonucleotide = diphosphate + NAD(+)
UniProtKB/Swiss-Prot CatalyticActivity: ATP + beta-nicotinate-D-ribonucleotide = diphosphate + deamido-NAD(+)
UniProtKB/Swiss-Prot EnzymeRegulation: Inhibited by P1-(adenosine-5)-P3-(nicotinamide-riboside-5)-triphosphate (Np3AD) and P1-(adenosine-5)-P4-(nicotinamide-riboside-5)-tetraphosphate (Np4AD).
UniProtKB/Swiss-Prot Function: Catalyzes the formation of NAD(+) from nicotinamide mononucleotide (NMN) and ATP. Can also use the deamidated form; nicotinic acid mononucleotide (NaMN) as substrate but with a lower efficiency. Cannot use triazofurin monophosphate (TrMP) as substrate. Also catalyzes the reverse reaction, i.e. the pyrophosphorolytic cleavage of NAD(+). For the pyrophosphorolytic activity prefers NAD(+), NADH and NaAD as substrates and degrades nicotinic acid adenine dinucleotide phosphate (NHD) less effectively. Fails to cleave phosphorylated dinucleotides NADP(+), NADPH and NaADP(+).

Enzyme Numbers (IUBMB) for NMNAT2 Gene

Gene Ontology (GO) - Molecular Function for NMNAT2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000309 nicotinamide-nucleotide adenylyltransferase activity TAS --
GO:0003824 catalytic activity --
GO:0004515 nicotinate-nucleotide adenylyltransferase activity IDA 16118205
GO:0005524 ATP binding IEA --
genes like me logo Genes that share ontologies with NMNAT2: view
genes like me logo Genes that share phenotypes with NMNAT2: view

Animal Model Products

CRISPR Products

miRNA for NMNAT2 Gene

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for NMNAT2

In Situ Assay Products

Flow Cytometry Products

No data available for Animal Models , Transcription Factor Targeting and HOMER Transcription for NMNAT2 Gene

Localization for NMNAT2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for NMNAT2 Gene

Cytoplasm. Golgi apparatus.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for NMNAT2 Gene COMPARTMENTS Subcellular localization image for NMNAT2 gene
Compartment Confidence
golgi apparatus 5
nucleus 4
cytosol 3
endosome 2
cytoskeleton 1
extracellular 1
mitochondrion 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for NMNAT2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane TAS --
GO:0005770 late endosome IEA --
GO:0005794 Golgi apparatus IDA 16118205
GO:0005802 trans-Golgi network IEA --
GO:0045202 synapse IEA --
genes like me logo Genes that share ontologies with NMNAT2: view

Pathways for NMNAT2 Gene

SuperPathways for NMNAT2 Gene

Superpath Contained pathways
1 Defective BTD causes biotidinase deficiency
2 Nicotinate and nicotinamide metabolism
3 tryptophan utilization II
4 Metabolism
5 Disease
genes like me logo Genes that share pathways with NMNAT2: view

UniProtKB/Swiss-Prot Q9BZQ4-NMNA2_HUMAN

  • Pathway: Cofactor biosynthesis; NAD(+) biosynthesis; deamido-NAD(+) from nicotinate D-ribonucleotide: step 1/1
  • Pathway: Cofactor biosynthesis; NAD(+) biosynthesis; NAD(+) from nicotinamide D-ribonucleotide: step 1/1

Interacting Proteins for NMNAT2 Gene

Gene Ontology (GO) - Biological Process for NMNAT2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006766 vitamin metabolic process TAS --
GO:0006767 water-soluble vitamin metabolic process TAS --
GO:0009058 biosynthetic process --
GO:0009435 NAD biosynthetic process IEA --
GO:0019674 NAD metabolic process TAS --
genes like me logo Genes that share ontologies with NMNAT2: view

Compounds for NMNAT2 Gene

(9) HMDB Compounds for NMNAT2 Gene

Compound Synonyms Cas Number PubMed IDs
Adenosine triphosphate
  • 5'-(tetrahydrogen triphosphate) Adenosine
56-65-5
Magnesium
  • Magnesium
7439-95-4
NAD
  • 3-Carbamoyl-1-D-ribofuranosylpyridinium hydroxide 5'-ester with adenosine 5'-pyrophosphate
53-84-9
NADH
  • 1,4-Dihydronicotinamide adenine dinucleotide
58-68-4
Nicotinamide ribotide
  • 3-(aminocarbonyl)-1-(5-O-phosphono-b-D-ribofuranosyl)-Pyridinium hydroxide inner salt
1094-61-7
genes like me logo Genes that share compounds with NMNAT2: view

Transcripts for NMNAT2 Gene

Unigene Clusters for NMNAT2 Gene

Nicotinamide nucleotide adenylyltransferase 2:
Representative Sequences:

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for NMNAT2

Primer Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for NMNAT2 Gene

No ASD Table

Relevant External Links for NMNAT2 Gene

GeneLoc Exon Structure for
NMNAT2
ECgene alternative splicing isoforms for
NMNAT2

Expression for NMNAT2 Gene

mRNA expression in normal human tissues for NMNAT2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for NMNAT2 Gene

This gene is overexpressed in Brain - Cerebellar Hemisphere (7.1), Brain - Cerebellum (5.6), Brain - Frontal Cortex (BA9) (5.5), Brain - Cortex (4.7), and Brain - Anterior cingulate cortex (BA24) (4.4).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for NMNAT2 Gene

SOURCE GeneReport for Unigene cluster for NMNAT2 Gene Hs.497123

mRNA Expression by UniProt/SwissProt for NMNAT2 Gene

Q9BZQ4-NMNA2_HUMAN
Tissue specificity: Highly expressed in brain, in particular in cerebrum, cerebellum, occipital lobe, frontal lobe, temporal lobe and putamen. Also found in the heart, skeletal muscle, pancreas and islets of Langerhans.
genes like me logo Genes that share expressions with NMNAT2: view

In Situ Assay Products

Orthologs for NMNAT2 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for NMNAT2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia NMNAT2 35
  • 99.89 (n)
  • 100 (a)
NMNAT2 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia NMNAT2 35
  • 93.49 (n)
  • 98.05 (a)
NMNAT2 36
  • 98 (a)
OneToOne
dog
(Canis familiaris)
Mammalia NMNAT2 35
  • 93.81 (n)
  • 99.67 (a)
NMNAT2 36
  • 100 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Nmnat2 35
  • 92.29 (n)
  • 98.7 (a)
Nmnat2 16
Nmnat2 36
  • 98 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia NMNAT2 36
  • 97 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia NMNAT2 36
  • 97 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Nmnat2 35
  • 92.83 (n)
  • 98.05 (a)
chicken
(Gallus gallus)
Aves NMNAT2 35
  • 85.45 (n)
  • 93.49 (a)
NMNAT2 36
  • 93 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia NMNAT2 36
  • 94 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia nmnat2 35
  • 78.83 (n)
  • 87.62 (a)
zebrafish
(Danio rerio)
Actinopterygii -- 35
nmnat2 35
  • 77.52 (n)
  • 87.17 (a)
nmnat2 36
  • 87 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea nmat-1 36
  • 37 (a)
OneToMany
nmat-2 36
  • 34 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes NMA1 36
  • 21 (a)
ManyToMany
NMA2 36
  • 22 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 32 (a)
OneToOne
Species with no ortholog for NMNAT2:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for NMNAT2 Gene

ENSEMBL:
Gene Tree for NMNAT2 (if available)
TreeFam:
Gene Tree for NMNAT2 (if available)

Paralogs for NMNAT2 Gene

Paralogs for NMNAT2 Gene

Selected SIMAP similar genes for NMNAT2 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with NMNAT2: view

Variants for NMNAT2 Gene

Sequence variations from dbSNP and Humsavar for NMNAT2 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type MAF
rs473189 -- 183,260,737(-) GGTTC(A/C)AGCAA intron-variant
rs481157 -- 183,353,866(-) CTCTC(A/G)CTCAA intron-variant
rs484462 -- 183,268,275(+) CTGCC(C/T)TGCTG intron-variant
rs485677 -- 183,330,488(-) GGACC(A/G)TGGTG intron-variant
rs486589 -- 183,330,382(-) GAGGG(A/C)CTCTG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for NMNAT2 Gene

Variant ID Type Subtype PubMed ID
esv2720117 CNV Deletion 23290073
esv2660635 CNV Deletion 23128226
esv2720128 CNV Deletion 23290073

Relevant External Links for NMNAT2 Gene

HapMap Linkage Disequilibrium report
NMNAT2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NMNAT2 Gene

Disorders for NMNAT2 Gene

Relevant External Links for NMNAT2

Genetic Association Database (GAD)
NMNAT2
Human Genome Epidemiology (HuGE) Navigator
NMNAT2
genes like me logo Genes that share disorders with NMNAT2: view

No data available for UniProtKB/Swiss-Prot for NMNAT2 Gene

Publications for NMNAT2 Gene

  1. Cloning and characterization of 13 novel transcripts and the human RGS8 gene from the 1q25 region encompassing the hereditary prostate cancer (HPC1) locus. (PMID: 11318611) Sood R. … Carpten J.D. (Genomics 2001) 2 3 4
  2. Identification of a novel human nicotinamide mononucleotide adenylyltransferase. (PMID: 12359228) Raffaelli N. … Magni G. (Biochem. Biophys. Res. Commun. 2002) 2 3 4
  3. Characterization of human brain nicotinamide 5'-mononucleotide adenylyltransferase-2 and expression in human pancreas. (PMID: 14516279) Yalowitz J.A. … Jayaram H.N. (Biochem. J. 2004) 3 4 23
  4. Initial-rate kinetics of human NMN-adenylyltransferases: substrate and metal ion specificity, inhibition by products and multisubstrate analogues, and isozyme contributions to NAD+ biosynthesis. (PMID: 17402747) Sorci L. … Magni G. (Biochemistry 2007) 3 4
  5. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 48

Products for NMNAT2 Gene

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