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NMNAT2 Gene

protein-coding   GIFtS: 61
GCID: GC01M183217

Nicotinamide Nucleotide Adenylyltransferase 2

(Previous name: chromosome 1 open reading frame 15)
(Previous symbol: C1orf15)
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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Nicotinamide Nucleotide Adenylyltransferase 21 2     KIAA04793 5
C1orf151 2 3     Chromosome 1 Open Reading Frame 151
Nicotinate-Nucleotide Adenylyltransferase 22 3     Nicotinamide Mononucleotide Adenylyltransferase 22
NaMN Adenylyltransferase 22 3     Pyridine Nucleotide Adenylyltransferase 22
NMN Adenylyltransferase 22 3     EC 2.7.7.13
PNAT22 5     EC 2.7.7.183

External Ids:    HGNC: 167891   Entrez Gene: 230572   Ensembl: ENSG000001570647   OMIM: 6087015   UniProtKB: Q9BZQ43   

Export aliases for NMNAT2 gene to outside databases

Previous GC identifers: GC01M179737 GC01M180456 GC01M179951 GC01M181483 GC01M154453


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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. GO annotations related to this gene include nicotinamide-nucleotide adenylyltransferase activity and nicotinate-nucleotide adenylyltransferase activity. An important paralog of this gene is NMNAT3.

UniProtKB/Swiss-Prot: NMNA2_HUMAN, Q9BZQ4
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(+)

Gene Wiki entry for NMNAT2 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000001.10  NC_018912.2  NT_004487.20  
Regulatory elements:
   Regulatory transcription factor binding sites in the NMNAT2 gene promoter:
         SRF   SRF (504 AA)   GATA-1   CREB   MZF-1   c-Rel   FOXO4   FOXJ2 (long isoform)   FOXJ2   ATF6   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidNMNAT2 promoter sequence
   Search Chromatin IP Primers for NMNAT2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat NMNAT2


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 1q25   Ensembl cytogenetic band:  1q25.3   HGNC cytogenetic band: 1q25

NMNAT2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
NMNAT2 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01M183217:  view genomic region     (about GC identifiers)

Start:
183,217,372 bp from pter      End:
183,387,737 bp from pter
Size:
170,366 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: NMNA2_HUMAN, Q9BZQ4 (See protein sequence)
Recommended Name: Nicotinamide mononucleotide adenylyltransferase 2  
Size: 307 amino acids; 34439 Da
Cofactor: Divalent metal cations. Magnesium confers the highest activity
Subunit: Monomer
Sequence caution: Sequence=BAA32324.1; Type=Erroneous initiation;
Secondary accessions: O75067 Q5T1Q3 Q8WU99 Q96QW1
Alternative splicing: 2 isoforms:  Q9BZQ4-1   Q9BZQ4-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for NMNAT2: NX_Q9BZQ4

Explore proteomics data for NMNAT2 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See NMNAT2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_055854.1  NP_733820.1  

    ENSEMBL proteins: 
     ENSP00000294868   ENSP00000287713  
    Reactome Protein details: Q9BZQ4

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    antibodies-online peptides for NMNAT2

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    3 InterPro protein domains:
     IPR014729 Rossmann-like_a/b/a_fold
     IPR004821 Cyt_trans-like
     IPR005248 NAMN_adtrnsfrase

    Graphical View of Domain Structure for InterPro Entry Q9BZQ4

    ProtoNet protein and cluster: Q9BZQ4

    1 Blocks protein domain: IPB004820 Cytidylyltransferase

    UniProtKB/Swiss-Prot: NMNA2_HUMAN, Q9BZQ4
    Similarity: Belongs to the eukaryotic NMN adenylyltransferase family


    Find genes that share domains with NMNAT2           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: NMNA2_HUMAN, Q9BZQ4
    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(+)
    Catalytic activity: ATP + nicotinamide ribonucleotide = diphosphate + NAD(+)
    Catalytic activity: ATP + beta-nicotinate-D-ribonucleotide = diphosphate + deamido-NAD(+)
    Enzyme regulation: Inhibited by P1-(adenosine-5')-P3-(nicotinamide-riboside-5')-triphosphate (Np3AD) and
    P1-(adenosine-5')-P4-(nicotinamide-riboside-5')-tetraphosphate (Np4AD)
    Biophysicochemical properties: Kinetic parameters: KM=32 uM for NMN; KM=70 uM for NAD(+); KM=204 uM for ATP;
    KM=1119 uM for PPi; KM=14.5 uM for NaMN; KM=304 uM for NMNH; Vmax=1.1 umol/min/mg enzyme for NAD synthesis;
    Vmax=3 umol/min/mg enzyme for pyrophosphorolytic NAD(+) cleavage; Vmax=7 umol/min/mg enzyme for
    pyrophosphorolytic NADH cleavage; Note=KM is >100 uM for triazofurin monophosphate; pH dependence: Optimum pH is
    6.0-9.0;

         Enzyme Numbers (IUBMB): EC 2.7.7.181 EC 2.7.7.11

         Gene Ontology (GO): 4 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000309nicotinamide-nucleotide adenylyltransferase activity TAS--
    GO:0003824catalytic activity ----
    GO:0004515nicotinate-nucleotide adenylyltransferase activity IDA16118205
    GO:0005524ATP binding IEA--
         
    Find genes that share ontologies with NMNAT2           About GenesLikeMe


    Phenotypes:
         10 MGI mutant phenotypes (inferred from 4 alleles(MGI details for Nmnat2):
     behavior/neurological  cellular  growth/size/body  mortality/aging  muscle 
     nervous system  normal  renal/urinary system  respiratory system  vision/eye 

    Find genes that share phenotypes with NMNAT2           About GenesLikeMe

    Animal Models:
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    hsa-miR-26a-2* hsa-miR-3938 hsa-miR-15a hsa-miR-3921 hsa-miR-3916 hsa-miR-629* hsa-miR-4325 hsa-miR-3613-3p
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    NMNA2_HUMAN, Q9BZQ4: Cytoplasm. Golgi apparatus
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    golgi apparatus5
    nucleus4
    cytosol3
    endosome2
    cytoskeleton1
    extracellular1
    mitochondrion1
    peroxisome1

    Gene Ontology (GO): Selected cellular component terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000139Golgi membrane TAS--
    GO:0005634nucleus ----
    GO:0005737cytoplasm ----
    GO:0005770late endosome IEA--
    GO:0005794Golgi apparatus IDA16118205

    Find genes that share ontologies with NMNAT2           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for NMNAT2 About    
    See pathways by source

    SuperPathSelected contained pathways About (see all per SuperPath)
    1Nicotinate and nicotinamide metabolism
    Nicotinate and nicotinamide metabolism0.43
    NAD salvage0.00
    NAD metabolism0.43
    Nicotinate metabolism0.00
    NAD biosynthesis from 2-amino-3-carboxymuconate semialdehyde0.00
    2Metabolism
    Metabolism0.38
    Metabolic pathways0.38
    3Defective BTD causes biotidinase deficiency
    Defective BTD causes biotidinase deficiency1.00
    Defective MMADHC causes methylmalonic aciduria and homocystinuria type cblD1.00
    Defective AMN causes hereditary megaloblastic anemia 11.00
    Metabolism of vitamins and cofactors1.00
    Defective MMAA causes methylmalonic aciduria type cblA1.00
    Defective MMACHC causes methylmalonic aciduria and homocystinuria type cblC1.00
    Defective CD320 causes methylmalonic aciduria1.00
    Defective MUT causes methylmalonic aciduria mut type1.00
    4tryptophan utilization II
    tryptophan utilization II0.71
    NAD de novo biosynthesis0.00
    tryptophan utilization I0.71
    5Disease
    Disease


    Find genes that share SuperPaths with NMNAT2           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 GeneGo (Thomson Reuters) Pathway for NMNAT2
        NAD metabolism

    5 BioSystems Pathways for NMNAT2
        NAD salvage
    NAD de novo biosynthesis
    NAD biosynthesis from 2-amino-3-carboxymuconate semialdehyde
    tryptophan utilization II
    tryptophan utilization I


    1 Reactome Pathway for NMNAT2
        Nicotinate metabolism


    2 Kegg Pathways  (Kegg details for NMNAT2):
        Nicotinate and nicotinamide metabolism
    Metabolic pathways

    UniProtKB/Swiss-Prot: NMNA2_HUMAN, Q9BZQ4
    Pathway: Cofactor biosynthesis; NAD(+) biosynthesis; NAD(+) from nicotinamide D-ribonucleotide: step 1/1

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for NMNAT2
    Interactions:

        Search GeneGlobe Interaction Network for NMNAT2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for NMNAT2 (ENSP000002877134) via UniProtKB, MINT, STRING, and/or I2D (see all 25)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    CD38ENSP000002262794STRING: ENSP00000226279
    ENPP1ENSP000003542384STRING: ENSP00000354238
    ENPP3ENSP000003502654STRING: ENSP00000350265
    NADKENSP000003416794STRING: ENSP00000341679
    NADSYN1ENSP000003264244STRING: ENSP00000326424
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006766vitamin metabolic process TAS--
    GO:0006767water-soluble vitamin metabolic process TAS--
    GO:0009058biosynthetic process ----
    GO:0009435NAD biosynthetic process IEA--
    GO:0019674NAD metabolic process TAS--

    Find genes that share ontologies with NMNAT2           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Tocris compounds for NMNAT2 (NMNA2)

    9 HMDB Compounds for NMNAT2    About this table
    CompoundSynonyms CAS #PubMed Ids
    Adenosine triphosphate5'-(tetrahydrogen triphosphate) Adenosine (see all 24)56-65-5--
    MagnesiumMagnesium (see all 2)7439-95-4--
    NAD3-Carbamoyl-1-D-ribofuranosylpyridinium hydroxide 5'-ester with adenosine 5'-pyrophosphate (see all 28)53-84-9--
    NADH1,4-Dihydronicotinamide adenine dinucleotide (see all 17)58-68-4--
    Nicotinamide ribotide3-(aminocarbonyl)-1-(5-O-phosphono-b-D-ribofuranosyl)-Pyridinium hydroxide inner salt (see all 15)1094-61-7--
    Nicotinic acid adenine dinucleotideNAAD (see all 9)6450-77-7--
    Nicotinic acid mononucleotide3-Carboxy-1-beta-D-ribofuranosylpyridinium hydroxide 5'-phosphate inner salt (see all 23)321-02-8--
    Phosphoric acidacide phosphorique (FRENCH) (see all 20)7664-38-2--
    Pyrophosphate(4-)Diphosphoric acid ion (see all 10)14000-31-8--



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for NMNAT2 gene (2 alternative transcripts): 
    NM_015039.3  NM_170706.3  

    Unigene Cluster for NMNAT2:

    Nicotinamide nucleotide adenylyltransferase 2
    Hs.497123  [show with all ESTs]
    Unigene Representative Sequence: AF288395
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000294868(uc009wye.2 uc001gqb.2) ENST00000287713(uc001gqc.2)
    ENST00000464047 ENST00000473046(uc001gqd.3)
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    Additional mRNA sequence: 

    AB007948.1 AF086038.1 AF288395.1 AK291390.1 AK309461.1 BC016726.1 BC020998.2 BC037251.1 

    12 DOTS entries:

    DT.109124  DT.92052193  DT.92469980  DT.100741669  DT.100767485  DT.95210593  DT.100684051  DT.95286302 
    DT.121423733  DT.95156124  DT.97781868  DT.121423718 

    Selected AceView cDNA sequences (see all 71):

    AA976626 AA984667 NM_170706 AL522207 NM_015039 BG056366 AI656857 AL542337 
    AI989612 CB960361 BC020998 AL044819 BC037251 AA984639 CF529788 CA446952 
    BC016726 BI832335 CB125294 CK005792 AA326118 AF288395 AA588602 AB007948 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    NMNAT2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GGCAAGAGTT
    NMNAT2 Expression
    About this image


    NMNAT2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 3) fully expand
     
     Brain (Nervous System)    fully expand to see all 7 entries
             Cerebral Cortex
     
     Neural Tube (Nervous System)    fully expand to see all 3 entries
             Metencephalon
     
     Gut Tube (Gastrointestinal Tract)
             Foregut
    NMNAT2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    NMNAT2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.497123

    UniProtKB/Swiss-Prot: NMNA2_HUMAN, Q9BZQ4
    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

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals and fungi.

    Orthologs for NMNAT2 gene from Selected species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Nmnat21 , 5 nicotinamide nucleotide adenylyltransferase 21, 5 92.29(n)1
    98.7(a)1
      1 (65.15 cM)5
    2265181  NM_175460.31  NP_780669.11 
     1529551015 
    chicken
    (Gallus gallus)
    Aves NMNAT21 nicotinamide nucleotide adenylyltransferase 2 85.45(n)
    93.49(a)
      771393  XM_001234669.3  XP_001234670.1 
    lizard
    (Anolis carolinensis)
    Reptilia NMNAT26
    nicotinamide nucleotide adenylyltransferase 2
    94(a)
    1 ↔ 1
    GL343203.1(4205981-4316023)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia nmnat21 nicotinamide nucleotide adenylyltransferase 2 78.83(n)
    87.62(a)
      100124800  NM_001102773.1  NP_001096243.1 
    zebrafish
    (Danio rerio)
    Actinopterygii BC059430.12   -- 80.22(n)   336257  BC059430.1 
    worm
    (Caenorhabditis elegans)
    Secernentea nmat-16
    nmat-26
    Protein NMAT-2 (nmat-2) mRNA, complete cds
    37(a)
    34(a)
    1 ↔ many
    1 ↔ many
    X(12014254-12016176) WBGene00012295
    I(9305750-9306846) WBGene00009176
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes NMA26
    NMA16
    Nicotinic acid mononucleotide adenylyltransferase,...
    Nicotinic acid mononucleotide adenylyltransferase,...
    22(a)
    21(a)
    many ↔ many
    many ↔ many
    VII(511545-512732) YGR010W
    XII(784913-786118) YLR328W


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for NMNAT2 gene
    NMNAT32  NMNAT12  
    2 SIMAP similar genes for NMNAT2 using alignment to 1 protein entry:     NMNA2_HUMAN:
    NMNAT1    NMNAT3

    Find genes that share paralogs with NMNAT2           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for NMNAT2 (see all 3784)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1492508061,2
    Cuntested1183255921(+) GTCACA/C/TCTCTA 4 R S mis11NA 4548
    rs571698491,2
    C--154615345(+) AAAAA-/A/AA  
            
    TAGCC
    1 -- int11NA 2
    rs616347811,2
    C,F--183216981(+) AAGTTC/TTGTTT 2 -- ds50014Minor allele frequency- T:0.15WA CSA 124
    rs1863561771,2
    --183217004(+) TTCAAA/GCTAAA 2 -- ds50010--------
    rs1427305201,2
    --183217042(+) AATATA/CATTTT 2 -- ds50010--------
    rs1910983331,2
    --183217111(+) AATTAA/GTCAAG 2 -- ds50010--------
    rs755371891,2
    F--183217216(+) ACATAC/ATTTTA 2 -- ds50011Minor allele frequency- A:0.03WA 118
    rs1832585031,2
    C--183217222(+) TTTTAC/TATAAC 2 -- ds50010--------
    rs5018791,2
    C,F,O,H--183217278(-) GTAAAA/GATGTA 2 -- ds500197Minor allele frequency- G:0.03EA NA NS PA EU CA WA CSA 5430
    rs1998707641,2
    C--183217353(+) AAGTTC/GTTGAC 2 -- ds50010--------

    HapMap Linkage Disequilibrium report for NMNAT2 (183217372 - 183387737 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for NMNAT2:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2720128CNV Deletion23290073
    esv2660635CNV Deletion23128226
    esv2720117CNV Deletion23290073

    Site Specific Mutation Identification with PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 608701    OMIM disorders: --


    Find genes that share disorders with NMNAT2           About GenesLikeMe

    Genetic Association Database (GAD): NMNAT2
    Human Genome Epidemiology (HuGE) Navigator: NMNAT2 (2 documents)

    Export disorders for NMNAT2 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for NMNAT2 gene, integrated from 10 sources (see all 26):
    (articles sorted by number of sources associating them with NMNAT2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Identification of a novel human nicotinamide mononucleotide adenylyltransferase. (PubMed id 12359228)1, 2, 3 Raffaelli N.... Magni G. (Biochem. Biophys. Res. Commun. 2002)
    2. Cloning and characterization of 13 novel transcripts and the human RGS8 gene from the 1q25 region encompassing the hereditary prostate cancer (HPC1) locus. (PubMed id 11318611)1, 2, 3 Sood R....Carpten J.D. (Genomics 2001)
    3. Characterization of human brain nicotinamide 5'-mononucleotide adenylyltransferase-2 and expression in human pancreas. (PubMed id 14516279)1, 2, 9 Yalowitz J.A.... Jayaram H.N. (Biochem. J. 2004)
    4. A targeted association study in systemic lupus erythematosus identifies multiple susceptibility alleles. (PubMed id 20962850)1, 4 Budarf M.L....Rioux J.D. (Genes Immun. 2011)
    5. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)
    6. Initial-rate kinetics of human NMN-adenylyltransferases: substrate and metal ion specificity, inhibition by products and multisubstrate analogues, and isozyme contributions to NAD+ biosynthesis. (PubMed id 17402747)1, 2 Sorci L.... Magni G. (Biochemistry 2007)
    7. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)1, 2 Gregory S.G.... Bentley D.R. (Nature 2006)
    8. Subcellular compartmentation and differential catalytic properties of the three human nicotinamide mononucleotide adenylyltransferase isoforms. (PubMed id 16118205)1, 2 Berger F.... Ziegler M. (J. Biol. Chem. 2005)
    9. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    10. Characterization of cDNA clones in size-fractionated cDNA libraries from human brain. (PubMed id 9455484)1, 2 Seki N.... Ohara O. (DNA Res. 1997)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 23057 HGNC: 16789 AceView: NMNAT2 Ensembl:ENSG00000157064 euGenes: HUgn23057
    ECgene: NMNAT2 Kegg: 23057 H-InvDB: NMNAT2

    (According to HUGE)
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    HUGE: KIAA0479

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for NMNAT2 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for NMNAT2 gene:
    Search GeneIP for patents involving NMNAT2

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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