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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 vari... See more...
Aliases for NMNAT2 Gene
Aliases for NMNAT2 Gene
- Nicotinamide Nucleotide Adenylyltransferase 2 2 3 5
- Nicotinamide/Nicotinic Acid Mononucleotide Adenylyltransferase 2 3 4
- 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
External Ids for NMNAT2 Gene
- HGNC: 16789
- Entrez Gene: 23057
- Ensembl: ENSG00000157064
- OMIM: 608701
- UniProtKB: Q9BZQ4
Previous HGNC Symbols for NMNAT2 Gene
- C1orf15
Previous GeneCards Identifiers for NMNAT2 Gene
- GC01M179737
- GC01M180456
- GC01M179951
- GC01M181483
- GC01M183217
- GC01M154453
Summaries 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. Diseases associated with NMNAT2 include Erythromelalgia and Wallerian Degeneration. Among its related pathways are Metabolism of water-soluble vitamins and cofactors and NAD metabolism. Gene Ontology (GO) annotations related to this gene include nicotinate-nucleotide adenylyltransferase activity and nicotinamide-nucleotide adenylyltransferase activity. An important paralog of this gene is NMNAT1.
UniProtKB/Swiss-Prot Summary for NMNAT2 Gene
-
Nicotinamide/nicotinate-nucleotide adenylyltransferase that acts as an axon maintenance factor (By similarity). Catalyzes the formation of NAD(+) from nicotinamide mononucleotide (NMN) and ATP (PubMed:16118205, PubMed:17402747). Can also use the deamidated form; nicotinic acid mononucleotide (NaMN) as substrate but with a lower efficiency (PubMed:16118205, PubMed:17402747). Cannot use triazofurin monophosphate (TrMP) as substrate (PubMed:16118205, PubMed:17402747). Also catalyzes the reverse reaction, i.e. the pyrophosphorolytic cleavage of NAD(+) (PubMed:16118205, PubMed:17402747). For the pyrophosphorolytic activity prefers NAD(+), NADH and NaAD as substrates and degrades nicotinic acid adenine dinucleotide phosphate (NHD) less effectively (PubMed:16118205, PubMed:17402747). Fails to cleave phosphorylated dinucleotides NADP(+), NADPH and NaADP(+) (PubMed:16118205, PubMed:17402747). Axon survival factor required for the maintenance of healthy axons: acts by delaying Wallerian axon degeneration, an evolutionarily conserved process that drives the loss of damaged axons (By similarity).
Additional gene information for NMNAT2 Gene
- HGNC(16789)
- Entrez Gene(23057)
- Ensembl(ENSG00000157064)
- OMIM(608701)
- UniProtKB(Q9BZQ4)
- Open Targets Platform(ENSG00000157064)
- Monarch Initiative
- Search for NMNAT2 at DataMed
- Search for NMNAT2 at HumanCyc
No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for NMNAT2 Gene
Genomics for NMNAT2 Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for NMNAT2 Gene
| GeneHancer (GH) Identifier | GH Type | GH Score |
GH Sources | Gene Association Score | Total Score | TSS distance (kb) | Number of Genes Away | Size (kb) | Transcription Factor Binding Sites |
Gene Targets |
|---|---|---|---|---|---|---|---|---|---|---|
| GH01J183416 | Promoter/Enhancer | 1.5 | EPDnew Ensembl ENCODE | 609.8 | +0.7 | 667 | 1.8 | CREB1 ZBTB33 PRDM10 ZNF629 REST KDM1A ZNF692 PRDM1 ZNF776 ZSCAN4 | NMNAT2 SMG7 piR-47402-005 LAMC2 | |
| GH01J183418 | Promoter | 0.4 | EPDnew | 600.7 | -0.3 | -297 | 0.1 | ZBTB17 | NMNAT2 piR-32861-007 SMG7 | |
| GH01J183317 | Enhancer | 1 | Ensembl ENCODE dbSUPER | 7.1 | +99.5 | 99480 | 2.2 | CEBPG CTCF FOXA1 RELA RAD21 TRIM22 CEBPA EED CEBPB RELB | NMNAT2 piR-42694-014 lnc-LAMC2-3 LAMC2 | |
| GH01J183345 | Enhancer | 0.9 | Ensembl dbSUPER | 7.9 | +71.8 | 71779 | 1.2 | REST ZNF740 SOX6 MGA ZNF766 CTBP1 E2F5 NR2C2 ZBTB11 GABPA | NMNAT2 NCF2 piR-42694-014 ENSG00000286372 LAMC2 | |
| GH01J183348 | Enhancer | 0.8 | Ensembl ENCODE dbSUPER | 6.7 | +69.1 | 69079 | 1.8 | FOXA1 POLR2A ZNF341 ZBTB44 GATA3 ZNF335 FEZF1 | NMNAT2 piR-42694-014 ENSG00000286372 LAMC2 |
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around NMNAT2 on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for NMNAT2
- Top Transcription factor binding sites by QIAGEN in the NMNAT2 gene promoter:
-
- ATF6
- c-Rel
- CREB
- FOXJ2
- FOXJ2 (long isoform)
- FOXO4
- GATA-1
- MZF-1
- SRF
- SRF (504 AA)
Genomic Locations for NMNAT2 Gene
Genomic Locations for NMNAT2 Gene
- chr1:183,248,237-183,418,380
- (GRCh38/hg38)
- Size:
- 170,144 bases
- Orientation:
- Minus strand
- chr1:183,217,372-183,387,737
- (GRCh37/hg19)
- Size:
- 170,366 bases
- Orientation:
- Minus strand
Genomic View for NMNAT2 Gene
Genes around NMNAT2 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 1q25.3 by HGNC
- 1q25.3 by Entrez Gene
- 1q25.3 by Ensembl
NMNAT2 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- 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;
- Quaternary structure:
-
- Monomer.
- SequenceCaution:
-
- Sequence=BAA32324.1; Type=Erroneous initiation; Evidence={ECO:0000305};
Protein Expression for NMNAT2 Gene
Post-translational modifications for NMNAT2 Gene
- Degraded in response to injured neurite. Degradation is probably caused by ubiquitination by MYCBP2 (By similarity). Ubiquitinated on threonine and/or serine residues by MYCBP2; consequences of threonine and/or serine ubiquitination are however unclear (PubMed:29643511).
- Palmitoylated; palmitoylation is required for membrane association.
- Modification sites at PhosphoSitePlus
- Modification sites at neXtProt
Other Protein References for NMNAT2 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- Creative Diagnostics Anti-NMNAT2 (aa 208-307) polyclonal antibody
- Novus Biologicals Antibodies for NMNAT2
-
Abcam antibodies for NMNAT2
- Invitrogen Antibodies for NMNAT2 (AFLGC-NMNAT2)
- antibodies-online: Show 13 available NMNAT2 Antibodies ranked by validation data
-
Santa Cruz Biotechnology (SCBT) Antibodies for NMNAT2
Protein Products
- Search Origene for MassSpec and Protein Over-expression Lysates for NMNAT2
- Origene Custom Protein Services for NMNAT2
- Sino Biological Cell Lysates for NMNAT2
- Sino Biological Recombinant Proteins for NMNAT2
- ProSpec Recombinant Proteins for NMNAT2
-
Abcam proteins for NMNAT2
No data available for DME Specific Peptides for NMNAT2 Gene
Domains & Families for NMNAT2 Gene
Gene Families for NMNAT2 Gene
- Human Protein Atlas (HPA):
-
- Enzymes
- Predicted intracellular proteins
Protein Domains for NMNAT2 Gene
- InterPro:
- Blocks:
-
- Cytidylyltransferase
- ProtoNet:
Suggested Antigen Peptide Sequences for NMNAT2 Gene
- GenScript: Design optimal peptide antigens:
-
- Nicotinate-nucleotide adenylyltransferase 2 (NMNA2_HUMAN)
Graphical View of Domain Structure for InterPro Entry
Q9BZQ4- Family:
-
- Belongs to the eukaryotic NMN adenylyltransferase family.
Function for NMNAT2 Gene
Molecular function for NMNAT2 Gene
- UniProtKB/Swiss-Prot Function:
- Nicotinamide/nicotinate-nucleotide adenylyltransferase that acts as an axon maintenance factor (By similarity). Catalyzes the formation of NAD(+) from nicotinamide mononucleotide (NMN) and ATP (PubMed:16118205, PubMed:17402747). Can also use the deamidated form; nicotinic acid mononucleotide (NaMN) as substrate but with a lower efficiency (PubMed:16118205, PubMed:17402747). Cannot use triazofurin monophosphate (TrMP) as substrate (PubMed:16118205, PubMed:17402747). Also catalyzes the reverse reaction, i.e. the pyrophosphorolytic cleavage of NAD(+) (PubMed:16118205, PubMed:17402747). For the pyrophosphorolytic activity prefers NAD(+), NADH and NaAD as substrates and degrades nicotinic acid adenine dinucleotide phosphate (NHD) less effectively (PubMed:16118205, PubMed:17402747). Fails to cleave phosphorylated dinucleotides NADP(+), NADPH and NaADP(+) (PubMed:16118205, PubMed:17402747). Axon survival factor required for the maintenance of healthy axons: acts by delaying Wallerian axon degeneration, an evolutionarily conserved process that drives the loss of damaged axons (By similarity).
- UniProtKB/Swiss-Prot CatalyticActivity:
- Reaction=ATP + beta-nicotinamide D-ribonucleotide + H(+) = diphosphate + NAD(+); Xref=Rhea:RHEA:21360, ChEBI:CHEBI:14649, ChEBI:CHEBI:15378, ChEBI:CHEBI:30616, ChEBI:CHEBI:33019, ChEBI:CHEBI:57540; EC=2.7.7.1; Evidence={ECO:0000269|PubMed:16118205, ECO:0000269|PubMed:17402747};.
- UniProtKB/Swiss-Prot CatalyticActivity:
- Reaction=ATP + H(+) + nicotinate beta-D-ribonucleotide = deamido-NAD(+) + diphosphate; Xref=Rhea:RHEA:22860, ChEBI:CHEBI:15378, ChEBI:CHEBI:30616, ChEBI:CHEBI:33019, ChEBI:CHEBI:57502, ChEBI:CHEBI:58437; EC=2.7.7.18; Evidence={ECO:0000269|PubMed:16118205, ECO:0000269|PubMed:17402747};.
- 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 EnzymeRegulation:
- Inhibited by P1-(adenosine-5')-P3-(nicotinamide-riboside-5')-triphosphate (Np3AD) and P1-(adenosine-5')-P4-(nicotinamide-riboside-5')-tetraphosphate (Np4AD).
Enzyme Numbers (IUBMB) for NMNAT2 Gene
Phenotypes From GWAS Catalog for NMNAT2 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000166 | nucleotide binding | IEA | -- |
| GO:0000309 | nicotinamide-nucleotide adenylyltransferase activity | IBA | 21873635 |
| GO:0003824 | catalytic activity | IEA | -- |
| GO:0004515 | nicotinate-nucleotide adenylyltransferase activity | IBA,IDA | 16118205 |
| GO:0005524 | ATP binding | IEA | -- |
Phenotypes for NMNAT2 Gene
- MGI mutant phenotypes for NMNAT2:
- inferred from 5 alleles
- GenomeRNAi human phenotypes for NMNAT2:
Animal Model Products
-
Taconic Biosciences Mouse Models for NMNAT2
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for NMNAT2 - Select products 50% OFF >
- * NMNAT2 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for NMNAT2
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for NMNAT2
-
Santa Cruz Biotechnology (SCBT) CRISPR for NMNAT2
miRNA for NMNAT2 Gene
- miRTarBase miRNAs that target NMNAT2
-
- mmu-miR-149-5p (MIRT014515)
- hsa-miR-9-5p (MIRT021432)
- hsa-miR-122-5p (MIRT023309)
- hsa-let-7c* (MIRT038995)
- hsa-miR-615-3p (MIRT040033)
- mmu-miR-466l-5p (MIRT582152)
- mmu-miR-466k (MIRT582153)
- mmu-miR-466i-5p (MIRT582154)
- mmu-miR-466d-5p (MIRT582155)
- hsa-miR-6867-5p (MIRT608050)
- hsa-miR-574-5p (MIRT608051)
- hsa-miR-5089-3p (MIRT609015)
- hsa-miR-592 (MIRT620698)
- hsa-miR-597-5p (MIRT620699)
- hsa-miR-223-3p (MIRT620700)
- hsa-miR-4697-3p (MIRT620701)
- hsa-miR-4328 (MIRT620702)
- hsa-miR-1304-5p (MIRT626547)
- hsa-miR-6858-5p (MIRT626548)
- hsa-miR-4689 (MIRT626549)
- hsa-miR-1224-5p (MIRT626550)
- hsa-miR-3915 (MIRT626551)
- hsa-miR-4455 (MIRT635696)
- hsa-miR-5572 (MIRT635697)
- hsa-miR-4260 (MIRT635698)
- hsa-miR-450a-2-3p (MIRT635699)
- hsa-miR-6803-5p (MIRT635700)
- hsa-miR-6751-5p (MIRT635701)
- hsa-miR-7109-5p (MIRT635702)
- hsa-miR-4665-5p (MIRT635703)
- hsa-miR-1275 (MIRT635704)
- hsa-miR-6740-5p (MIRT635705)
- hsa-miR-6885-5p (MIRT635706)
- hsa-miR-328-5p (MIRT635707)
- hsa-miR-6887-5p (MIRT635708)
- hsa-miR-6795-5p (MIRT635709)
- hsa-miR-1255a (MIRT783225)
- hsa-miR-1255b-5p (MIRT783228)
- hsa-miR-342-5p (MIRT784901)
- hsa-miR-3960 (MIRT785482)
- hsa-miR-4278 (MIRT785570)
- hsa-miR-4466 (MIRT785953)
- hsa-miR-4664-5p (MIRT786349)
- hsa-miR-4716-3p (MIRT786513)
- hsa-miR-6716-5p (MIRT788452)
- hsa-miR-6717-5p (MIRT788453)
- hsa-miR-6732-5p (MIRT788488)
- hsa-miR-6744-5p (MIRT788534)
- hsa-miR-6752-5p (MIRT788564)
- hsa-miR-675-5p (MIRT788575)
- hsa-miR-6794-5p (MIRT788791)
- hsa-miR-6805-5p (MIRT788855)
- hsa-miR-6835-5p (MIRT789023)
- hsa-miR-6842-5p (MIRT789046)
- hsa-miR-7110-5p (MIRT789415)
- hsa-miR-8072 (MIRT789804)
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for NMNAT2
- Browse OriGene Inhibitory RNA Products For NMNAT2
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for NMNAT2
Clone Products
- Applied Biological Materials (abm): Clones for NMNAT2 - Select products 50% OFF >
- * NMNAT2 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for NMNAT2
- Addgene plasmids for NMNAT2
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for NMNAT2
Cell Line Products
-
Horizon Cell Lines for NMNAT2
No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for NMNAT2 Gene
Localization for NMNAT2 Gene
Subcellular locations from UniProtKB/Swiss-Prot for NMNAT2 Gene
- Golgi apparatus membrane. Lipid-anchor. Cytoplasmic vesicle membrane. Lipid-anchor. Cytoplasm. Cell projection, axon. Note=Delivered to axons with Golgi-derived cytoplasmic vesicles. {ECO:0000250 UniProtKB:Q8BNJ3}.
| Compartment | Confidence |
|---|---|
| golgi apparatus | 5 |
| cytosol | 3 |
| extracellular | 2 |
| cytoskeleton | 2 |
| mitochondrion | 2 |
| nucleus | 2 |
| endosome | 2 |
| plasma membrane | 1 |
| peroxisome | 1 |
| endoplasmic reticulum | 1 |
| lysosome | 1 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000139 | Golgi membrane | TAS | -- |
| GO:0005737 | cytoplasm | IEA | -- |
| GO:0005770 | late endosome | IEA | -- |
| GO:0005794 | Golgi apparatus | IBA,IDA | 16118205 |
| GO:0005802 | trans-Golgi network | IEA | -- |
No data available for Subcellular locations from the Human Protein Atlas (HPA) for NMNAT2 Gene
Pathways & Interactions for NMNAT2 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | NAD metabolism |
NAD metabolism
.53
|
.01
|
| 2 | Metabolism |
.40
|
|
| 3 | Metabolism of water-soluble vitamins and cofactors | ||
| 4 | Nicotinate metabolism | ||
Pathways by source for NMNAT2 Gene
1 BioSystems pathway for NMNAT2 Gene
4 Reactome pathways for NMNAT2 Gene
2 KEGG pathways for NMNAT2 Gene
1 GeneGo (Thomson Reuters) pathway for NMNAT2 Gene
- NAD metabolism
UniProtKB/Swiss-Prot Q9BZQ4-NMNA2_HUMAN
- Pathway: Cofactor biosynthesis; NAD(+) biosynthesis; NAD(+) from nicotinamide D-ribonucleotide: step 1/1.
- Pathway: Cofactor biosynthesis; NAD(+) biosynthesis; deamido-NAD(+) from nicotinate D-ribonucleotide: step 1/1.
Interacting Proteins for NMNAT2 Gene
GPS-Prot Interaction Network for NMNAT2
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0009058 | biosynthetic process | IEA | -- |
| GO:0009165 | nucleotide biosynthetic process | IC | 16118205 |
| GO:0009435 | NAD biosynthetic process | IBA,IEA | -- |
| GO:0019363 | pyridine nucleotide biosynthetic process | IEA | -- |
| GO:0019674 | NAD metabolic process | TAS | -- |
No data available for SIGNOR curated interactions for NMNAT2 Gene
Drugs & Compounds for NMNAT2 Gene
| Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
|---|---|---|---|---|---|---|
| Magnesium | Approved, Experimental, Investigational | Pharma | 0 | |||
| Phosphoric acid | Approved | Pharma | 0 | |||
| NADH | Approved | Nutra | 0 | |||
| NAD | Experimental | Pharma | Agonist, Full agonist, Activator | 0 | ||
| ATP | Investigational | Nutra | Agonist, Activator, Partial agonist, Antagonist, Full agonist, Gating inhibitor, Pore Blocker, Potentiation | 0 |
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
|---|---|---|---|---|---|---|
| beta-nicotinamide D-ribonucleotide |
|
|
||||
| Nicotinamide ribotide |
|
1094-61-7 |
|
|||
| nicotinate beta-D-ribonucleotide |
|
|
||||
| Nicotinic acid adenine dinucleotide |
|
6450-77-7 |
|
|||
| Nicotinic acid mononucleotide |
|
321-02-8 |
|
Transcripts for NMNAT2 Gene
mRNA/cDNA for NMNAT2 Gene
- 2 REFSEQ mRNAs :
- 9 NCBI additional mRNA sequence :
- 4 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000287713 5441 nts (view in UCSC)
- ENST00000294868 5448 nts (view in UCSC)
- ENST00000464047 623 nts (view in UCSC)
- ENST00000473046 1573 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for NMNAT2 - Select products 50% OFF >
- * NMNAT2 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for NMNAT2
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for NMNAT2
-
Santa Cruz Biotechnology (SCBT) CRISPR for NMNAT2
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for NMNAT2
- Browse OriGene Inhibitory RNA Products For NMNAT2
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for NMNAT2
Clone Products
- Applied Biological Materials (abm): Clones for NMNAT2 - Select products 50% OFF >
- * NMNAT2 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for NMNAT2
- Addgene plasmids for NMNAT2
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for NMNAT2
Relevant External Links for NMNAT2 Gene
- GeneLoc Exon Structure for
- NMNAT2
Expression for NMNAT2 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
- Brain (Nervous System)
- Neural Tube (Nervous System)
- Gut Tube (Gastrointestinal Tract)
mRNA differential expression in normal tissues according to GTEx for NMNAT2 Gene
This gene is overexpressed in Brain - Cerebellar Hemisphere (x7.1), Brain - Cerebellum (x5.6), Brain - Frontal Cortex (BA9) (x5.5), Brain - Cortex (x4.7), and Brain - Anterior cingulate cortex (BA24) (x4.4).
This gene is overexpressed in Hair follicle (68.8).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for NMNAT2 Gene
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for NMNAT2
SOURCE GeneReport for Unigene cluster for NMNAT2 Gene:
Hs.497123mRNA 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.
Evidence on tissue expression from TISSUES for NMNAT2 Gene
- Nervous system(4.9)
- Muscle(2.3)
- Skin(2.2)
- Liver(2.1)
- Kidney(2.1)
- Heart(2.1)
Primer Products
-
OriGene qPCR primer pairs for NMNAT2
-
OriGene qPCR primer pairs and template standards for NMNAT2
Gene Expression Assay Products
No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for NMNAT2 Gene
Orthologs for NMNAT2 Gene
This gene was present in the common ancestor of animals and fungi.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | NMNAT2 30 31 |
|
OneToOne | |
| Oppossum (Monodelphis domestica) |
Mammalia | NMNAT2 31 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | NMNAT2 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | NMNAT2 30 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | NMNAT2 30 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Nmnat2 30 |
|
||
| Mouse (Mus musculus) |
Mammalia | Nmnat2 30 17 31 |
|
OneToOne | |
| Chicken (Gallus gallus) |
Aves | NMNAT2 30 31 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | NMNAT2 31 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | nmnat2 30 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | nmnat2 30 31 |
|
OneToOne | |
| -- 30 |
|
||||
| Worm (Caenorhabditis elegans) |
Secernentea | nmat-1 31 |
|
OneToMany | |
| nmat-2 31 |
|
OneToMany | |||
| Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | NMA2 31 |
|
ManyToMany | |
| NMA1 31 |
|
ManyToMany | |||
| Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToOne |
- Species where no ortholog for NMNAT2 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
- 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)
- Aminode:
- Evolutionary constrained regions (ECRs) for NMNAT2: view image
Paralogs for NMNAT2 Gene
Variants for NMNAT2 Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for NMNAT2 Gene
| SNP ID | Clinical significance and condition | Chr 01 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs768849266 | Likely Pathogenic: Inborn genetic diseases | 183,261,260(-) | C/T | MISSENSE_VARIANT | |
| rs775499191 | Likely Pathogenic: Inborn genetic diseases | 183,286,706(-) | T/TG | FRAMESHIFT_VARIANT |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| esv2660635 | CNV | deletion | 23128226 |
| esv2720117 | CNV | deletion | 23290073 |
| esv2720128 | CNV | deletion | 23290073 |
| esv3588109 | CNV | loss | 21293372 |
| esv3588110 | CNV | gain | 21293372 |
| esv3588111 | CNV | loss | 21293372 |
| esv3588112 | CNV | loss | 21293372 |
| nsv1122429 | CNV | deletion | 24896259 |
| nsv946538 | CNV | duplication | 23825009 |
| nsv999841 | CNV | gain | 25217958 |
Residual Variation Intolerance Score:
14% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
7.67;
82.89% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for NMNAT2 Gene
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NMNAT2 Gene
Disorders for NMNAT2 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| erythromelalgia |
|
|
| wallerian degeneration |
|
|
| 3-methylglutaconic aciduria, type iii |
|
|
Search NMNAT2 in MalaCards
View complete list of genes associated with diseases
Additional Disease Information for NMNAT2
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
No data available for UniProtKB/Swiss-Prot and Genatlas for NMNAT2 Gene
Publications for NMNAT2 Gene
- Characterization of human brain nicotinamide 5'-mononucleotide adenylyltransferase-2 and expression in human pancreas. (PMID: 14516279) Yalowitz JA … Jayaram HN (The Biochemical journal 2004) 3 4 23
- Identification of a novel human nicotinamide mononucleotide adenylyltransferase. (PMID: 12359228) Raffaelli N … Magni G (Biochemical and biophysical research communications 2002) 2 3 4
- 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 JD (Genomics 2001) 2 3 4
- Activity-based E3 ligase profiling uncovers an E3 ligase with esterification activity. (PMID: 29643511) Pao KC … Virdee S (Nature 2018) 3 4
- A targeted association study in systemic lupus erythematosus identifies multiple susceptibility alleles. (PMID: 20962850) Budarf ML … Rioux JD (Genes and immunity 2011) 3 41
ExternalLinks
Products for NMNAT2 Gene
- Browse OriGene Antibodies
- Custom Antibody Services
- Browse OriGene ELISA Kits
- Custom Assay Services
- Search Origene for MassSpec and Protein Over-expression Lysates for NMNAT2
- Origene Custom Protein Services for NMNAT2
- Origene shrna, sirna, and RNAi products in human, mouse, rat for NMNAT2
- Browse OriGene Inhibitory RNA Products For NMNAT2
- OriGene qPCR primer pairs for NMNAT2
- OriGene qPCR primer pairs and template standards for NMNAT2
- OriGene CRISPR knockouts for NMNAT2
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Browse OriGene miRNA Products For NMNAT2
- Sino Biological Human cDNA Clone for NMNAT2
- Sino Biological Cell Lysates for NMNAT2
- Sino Biological Recombinant Proteins for NMNAT2
- Browse Sino Biological Antibodies
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- Browse Recombinant Proteins
- Browse cDNA Clones
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- Browse CRO Services
- High-throughput Antibody Production Service
- Protein Production Service
- Epitope Tag Antibodies & Reporter Protein Antibodies
- Lentiviral ORF Clones
- Novus Biologicals Antibodies for NMNAT2
- Novus Biologicals proteins and lysates for NMNAT2
- Browse Antibodies
- Browse Peptides and Proteins
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- Abcam antibodies for NMNAT2
- Abcam proteins for NMNAT2
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- Browse Primary Antibodies
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- ProSpec Recombinant Proteins for NMNAT2
- Taconic Biosciences Mouse Models for NMNAT2
- Find your next knockout model in the Taconic Knockout Repository
- Genetically Engineered Models Available Immediately
- Humanized Mice
- Invitrogen Antibodies for NMNAT2 (AFLGC-NMNAT2)
- VectorBuilder Custom and pre-made DNA vectors for NMNAT2 (ie. gene expression, shRNA knockdown, CRISPR)
- VectorBuilder Viral vectors for NMNAT2 (ie. lentivirus, AAV, adenovirus)
- VectorBuilder CRISPR vectors for NMNAT2 (ie. knockout, knockin, CRISPRa, CRISPRi)
- VectorBuilder Virus packaging for NMNAT2 CRISPR vectors (ie. lentivirus, AAV, adenovirus)
- VectorBuilder Stable cell line generation for NMNAT2
- Addgene plasmids for NMNAT2
- antibodies-online: Show 13 available NMNAT2 Antibodies ranked by validation data
- antibodies-online: Search results for available NMNAT2 related products ranked by validation data
- antibodies-online: Show 19 available NMNAT2 Proteins ranked by validation data
- Compare Top NMNAT2 Proteins
- Santa Cruz Biotechnology (SCBT) Antibodies for NMNAT2
- Search Santa Cruz Biotechnology (SCBT) for NMNAT2 siRNA/shRNA
- Santa Cruz Biotechnology (SCBT) CRISPR for NMNAT2
- Horizon Cell Lines for NMNAT2
- Browse GeneCopoeia Cell Lines
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for NMNAT2
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for NMNAT2
- Search GeneCopoeia for miRNA 3'UTR Target clone products for NMNAT2
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for NMNAT2
Sources for NMNAT2 Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) Cell Signaling Technology
- (12) GO
- (13) UniProtKB/TrEMBL
- (14) InterPro
- (15) ProtoNet
- (16) Blocks
- (17) MGI
- (18) IUBMB
- (19) KEGG
- (20) MINT
- (21) STRING
- (22) IntAct
- (23) Novoseek
- (24) PharmGKB
- (25) DrugBank
- (26) HMDB
- (27) ASD
- (28) SAGE
- (29) SOURCE
- (30) HomoloGene
- (31) PanEnsembl
- (32) euGenes
- (33) SGD
- (34) FlyBase
- (35) WormBase
- (36) Pseudogene
- (37) DGV
- (38) dbSNP
- (39) GenAtlas
- (40) HGMD
- (41) GAD
- (42) BGMUT
- (43) HuGE
- (44) Atlas
- (45) GenBank
- (46) HORDE
- (47) HUGE
- (48) IMGT
- (49) Leiden
- (50) miRBase
- (51) DME
- (52) OriGene
- (53) PubMed
- (54) R&D Systems
- (55) TGDB
- (56) Tocris
- (57) Abcam
- (58) Novus Biologicals
- (59) ProSpec
- (60) Sino Biological
- (61) GenScript
- (62) Qiagen
- (63) OCA
- (64) Proteopedia
- (65) MOPED
- (66) neXtProt
- (67) Reactome
- (68) GeneGo (Thomson Reuters)
- (69) DISEASES
- (70) SIMAP
- (71) GenomeRNAi
- (72) LifeMap
- (73) miRTarBase
- (74) MalaCards
- (75) Invitrogen
- (76) BitterDB
- (77) ESI-BIO
- (78) RefSeq
- (79) BioSystems
- (80) MaxQB
- (81) IUPHAR
- (82) BioGPS
- (83) Illumina
- (84) COMPARTMENTS
- (85) HOMER
- (86) PaxDb
- (87) ApexBio
- (88) Addgene
- (89) antibodies-online
- (90) CYP
- (91) NONCODE
- (92) TreeFam
- (93) PathCards
- (94) GeneReviews
- (95) GeneTex
- (96) Taconic Biosciences
- (97) GTEx
- (98) ProteomicsDB
- (99) SCBT
- (100) DGIdb
- (101) ClinicalTrials
- (102) RVIS
- (103) SIGNOR
- (104) diseasecard
- (105) NIH Rare Diseases
- (106) Orphanet
- (107) UMLS
- (108) GTR
- (109) Disease Ontology
- (110) Genetics Home Reference
- (111) MeSH
- (112) MedlinePlus
- (113) CDC
- (114) NINDS
- (115) NCBI Bookshelf
- (116) ClinVar
- (117) Gene Damage Index
- (118) HPO
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- (122) ENCODE
- (123) ProSci
- (124) Horizon
- (125) The Signaling Pathways Project (SPP)
- (126) IID
- (127) VectorBuilder
- (128) SNPedia
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- (130) CIViC
- (131) ProteoGenix
- (132) dbSUPER
- (133) TISSUES
- (134) Gene ORGANizer
- (135) abm
- (136) Human Protein Atlas
- (137) GWAS Catalog
- (138) Monarch Initiative
- (139) DataMed
- (140) HumanCyc
- (141) UCNEbase
- (142) EPDnew
- (143) Applied Biosystems
- (144) GlyConnect
- (145) Aminode
- (146) GeneCopoeia
- (147) GPS-Prot
- (148) RNACentral
- (149) LncRNADisease
- (150) LOVD
- (151) miR2Disease
- (152) DiseaseEnhancer
- (153) Boster Bio
- (154) Biorbyt
- (155) Biocompare
- (156) Mastermind
- (157) CTD^2 Dashboard
- (158) CraniofacialAtlas
- (159) GeneImprint
- (160) Synthego
- (161) ENA
- (162) GtRNAdb
- (163) LncBase
- (164) LncBook
- (165) LNCipedia
- (166) Modomics
- (167) PDBe
- (168) Rfam
- (169) SILVA
- (170) snOPY
- (171) SRPDB
- (172) GENCODE
- (173) TarBase
- (174) Signalway Antibody
- (175) Open Targets Platform
- (176) 5SRRNADB
- (177) snoDB
- (178) MirGeneDB