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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

NMNAT2 Gene

protein-coding   GIFtS: 60
GCID: GC01M183217

nicotinamide nucleotide adenylyltransferase 2

(Previous name: chromosome 1 open reading frame 15 )
(Previous symbol: C1orf15)
 Explore 2 diseases affiliated with
NMNAT2 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for NMNAT2    

Aliases
for NMNAT2 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Nicotinamide Nucleotide Adenylyltransferase 21 2     NMN Adenylyltransferase 22 3
C1orf151 2 3     Chromosome 1 Open Reading Frame 151
PNAT21 2     Nicotinamide Mononucleotide Adenylyltransferase 22
KIAA04791 3     Pyridine Nucleotide Adenylyltransferase 22
Nicotinate-Nucleotide Adenylyltransferase 22 3     EC 2.7.7.13
NaMN Adenylyltransferase 22 3     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


Summaries
for NMNAT2 gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
Entrez Gene summary for NMNAT2:
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)

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


Genomic Views
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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000001.10  NC_018912.1  NT_004487.19  
Regulatory elements:
   SABiosciences 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 plasmid: NMNAT2 promoter sequence
   Search SABiosciences Chromatin IP Primers for NMNAT2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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

Proteins
for NMNAT2 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
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
Subcellular location: Cytoplasm. Golgi apparatus
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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q9BZQ4

    • NMNAT2 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

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

    ENSEMBL proteins: 
     ENSP00000287713   ENSP00000294868  
    Reactome Protein details: Q9BZQ4
    Human Recombinant Protein Products: 
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    OriGene Protein Over-expression Lysate: NMNAT2
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    Novus Biologicals NMNAT2 Proteins
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    Uscn Proteins for NMNAT2

    Gene Ontology (GO): 5/8 cellular component terms (GO ID links to tree view) (see all 8):    About this table

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


    NMNAT2 for ontologies           About GeneDecksing



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    Protein Domains /
    Families
    for NMNAT2 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    NMNAT2 for domains           About GeneDecksing

    3 InterPro domains/families:
     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 family: IPB004820 Cytidylyltransferase

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


    Function
    for NMNAT2 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         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(+)
    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

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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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    Gene Editing
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    Clone
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    In Situ Assay
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    Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000309nicotinamide-nucleotide adenylyltransferase activity TAS--
    GO:0004515nicotinate-nucleotide adenylyltransferase activity IDA16118205
    GO:0005524ATP binding IEA--


    NMNAT2 for ontologies           About GeneDecksing



    Pathways & Interactions
    for NMNAT2 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Nicotinate metabolism
    		Nicotinate metabolism1.00
    		NAD salvage pathway III0.30
    		NAD biosynthesis from 2-amino-3-carboxymuconate semialdehyde0.62
    		NAD salvage pathway II0.18
    		NAD biosynthesis III0.50
    2NAD metabolism
    		NAD metabolism1.00
    		Nicotinate and nicotinamide metabolism0.43
    		NAD metabolism1.00
    3Metabolism
    		Metabolism1.00
    		Metabolic pathways0.38
    4Vitamin B5 (pantothenate) metabolism
    		Metabolism of vitamins and cofactors0.21
    		Metabolism of water-soluble vitamins and cofactors0.21
    5tryptophan degradation to 2-amino-3-carboxymuconate semialdehyde
    		NAD biosynthesis II (from tryptophan)0.50

    Pathway sources
    See GeneCards unified pathways
    Show all pathways

    1 EMD Millipore Pathway for NMNAT2
        NAD metabolism


    1 GeneGo (Thomson Reuters) Pathway for NMNAT2
        NAD metabolism

    5 BioSystems Pathways for NMNAT2 
        NAD salvage pathway III
    NAD biosynthesis from 2-amino-3-carboxymuconate semialdehyde
    NAD biosynthesis II (from tryptophan)
    NAD biosynthesis III
    NAD salvage pathway II

    4        Reactome Pathways for NMNAT2
        Nicotinate metabolism
    Metabolism
    Metabolism of vitamins and cofactors
    Metabolism of water-soluble vitamins and cofactors


    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


    NMNAT2 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for NMNAT2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 20)

    5/20 Interacting proteins for NMNAT2 (ENSP000002877134) via UniProtKB, MINT, STRING, and/or I2D (see all 20)

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

    Gene Ontology (GO): 5 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006766vitamin metabolic process TAS--
    GO:0006767water-soluble vitamin metabolic process TAS--
    GO:0009435NAD biosynthetic process IEA--
    GO:0019674NAD metabolic process TAS--
    GO:0044281small molecule metabolic process TAS--


    NMNAT2 for ontologies           About GeneDecksing



    Drugs & Compounds
    for NMNAT2 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for NMNAT2

    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--
    Search CenterWatch for drugs/clinical trials and news about NMNAT2 / NMNA2 

    Transcripts
    for NMNAT2 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    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:
    ENST00000287713(uc001gqc.2) ENST00000294868(uc009wye.2 uc001gqb.2)
    ENST00000464047 ENST00000473046(uc001gqd.3)

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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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    Additional cDNA 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 

    24/71 AceView cDNA sequences (see all 71):

    AL522207 BC016726 AA984667 AL542337 AA984639 BC020998 AI656857 CB960361 
    AL044819 NM_170706 AI989612 AA976626 NM_015039 CF529788 BC037251 BG056366 
    CA446952 AA588602 BE797007 BX354991 AW071638 BI832335 AA625889 BI493003 

    GeneLoc Exon Structure


    Expression
    for NMNAT2 gene

    (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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    NMNAT2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: GGCAAGAGTT

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    NMNAT2 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    7 LifeMap In Vivo Development Anatomical Compartments/Cells 
    Tissue Anatomical Compartment CellCategory (developmental path)
    Neural TubeNeural TubeSpinal Neural Tube CellsNeural Ectoderm
    BrainMedulla OblongataBrain
    EyeRetinaEye
    Neural TubeDiencephalonNeural Tube
    Neural TubeMetencephalonNeural Tube
    Neural TubeTelencephalonNeural Tube
    Spinal CordPresumptive Spinal CordSpinal Cord
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See NMNAT2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for NMNAT2

    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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    In Situ
    Assay Products:     
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    Orthologs
    for NMNAT2 gene

    (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)
    About This Section
    This gene was present in the common ancestor of eukaryotes.

    Orthologs for NMNAT2 gene from 7/19 species (see all 19)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    chicken
    (Gallus gallus)    		 Aves NMNAT21 nicotinamide nucleotide adenylyltransferase 2 85.45(n)
    93.49(a)    		   771393  XM_001234669.2  XP_001234670.1 
    lizard
    (Anolis carolinensis)    		 Reptilia NMNAT26
    		 --
    		 94(a)
    		 1 ↔ 1
    		 GL343203.1(4269494-4311101)
    zebrafish
    (Danio rerio)    		 Actinopterygii BC059430.12   -- 80.22(n)   336257  BC059430.1 
    honey bee
    (Apis mellifera)    		 Insecta --
    		 --
    		 4(a)
    		 possible ortholog
    		 GroupUn.239(19183-21852)
    worm
    (Caenorhabditis elegans)    		 Secernentea W06B3.16
    F26H9.46
    		 Uncharacterized protein F26H9.4
    		 37(a)
    35(a)
    		 possible ortholog
    possible ortholog
    		 X(12014186-12016108)
    I(9305742-9306838)
    thale cress
    (Arabidopsis thaliana)    		 eudicotyledons NMNAT6
    		 nicotinamide mononucleotide adenylyltransferase
    		 29(a)
    		 1 → many
    		 5(22583985-22586347)
    rice
    (Oryza sativa)    		 Liliopsida --
    --
    		 cytidylyltransferase domain containing protein, ex...
    cytidylyltransferase domain containing protein, ex...
    		 37(a)
    27(a)
    		 many ↔ many
    many ↔ many
    		 9(10927395-10929717)
    2(34909922-34912117)


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

    Paralogs
    for NMNAT2 gene

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

    NMNAT2 for paralogs           About GeneDecksing



    Genomic Variants
    for NMNAT2 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/3339 NCBI SNPs in NMNAT2 are shown (see all 3339)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 1 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs1492508061,2
    		Cother183255921(+) GTCACA/C/TCTCTA 6 R S syn1 mis11NA 4548
    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
    		--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
    rs37388201,2
    		C,--183217379(-) CAATGC/TTACAA 2 -- ut310--------
    rs1886780411,2
    		C,--183217494(+) AACTTA/GAATAT 2 -- ut310--------

    HapMap Linkage Disequilibrium report for NMNAT2 (183217372 - 183387737 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for NMNAT2: --

    SABiosciences Cancer Mutation PCR Assays
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    Disorders / Diseases
    for NMNAT2 gene

    (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.)
    About This Section
    NMNAT2 for disorders           About GeneDecksing

    OMIM gene information: 608701    OMIM disorders: --

    2 diseases for NMNAT2:    About MalaCards
    prostate cancer    prostatitis

    Human Genome Epidemiology (HuGE) Navigator: NMNAT2 (2 documents)

    Export disorders for NMNAT2 gene to outside databases

    Publications
    for NMNAT2 gene

    (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)
    About This Section

    PubMed articles for NMNAT2 gene, integrated from 9 sources (see all 22):
    (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. (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. (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. (2004)
    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. (PubMed id 17402747)1, 2 Sorci L.... Magni G. (2007)
    5. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)1, 2 Gregory S.G.... Bentley D.R. (2006)
    6. Subcellular compartmentation and differential catalytic properties of the three human nicotinamide mononucleotide adenylyltransferase isoforms. (PubMed id 16118205)1, 2 Berger F.... Ziegler M. (2005)
    7. 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. (2004)
    8. Characterization of cDNA clones in size-fractionated cDNA libraries from human brain. (PubMed id 9455484)1, 2 Seki N.... Ohara O. (1997)
    9. CREB-activity and nmnat2 transcription are down-regula ted prior to neurodegeneration, while NMNAT2 over-expression is neuroprotective, in a mouse model of human tauopathy. (PubMed id 22027994)1 Ljungberg M.C....Lu H.C. (2012)
    10. Interactions of pathological hallmark proteins: tubul in polymerization promoting protein/p25, beta-amyloid, and alpha-synuclein. (PubMed id 21832049)1 OlA!h J....OvA!di J. (2011)

    External Searches for NMNAT2 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Free Text  
      Query String
    		PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    Genome Databases showing NMNAT2 gene

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

    Other Databases showing NMNAT2 gene

    (According to HUGE)
    About This Section
    HUGE: KIAA0479

    Specialized Databases showing NMNAT2 gene

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

    Intellectual Property
    for NMNAT2 gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		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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