NMNAT2
Nicotinamide Nucleotide Adenylyltransferase 2
Gene Information Card
| Symbol | NMNAT2 |
|---|---|
| Full Name | Nicotinamide Nucleotide Adenylyltransferase 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 1q25.3 |
| NCBI Gene ID | 23057 ncbi.nlm.nih.gov/gene/23057 |
| Ensembl ID | ENSG00000157064 |
| UniProt ID | Q9BZQ4 |
| OMIM ID | 608701 |
| HGNC ID | 16789 |
| Aliases | PNAT2, C1orf15, FLJ10727 |
Description
NMNAT2 encodes nicotinamide nucleotide adenylyltransferase 2, an enzyme that catalyzes the final step in NAD+ biosynthesis from nicotinamide mononucleotide. It is predominantly expressed in the brain and plays a critical role in maintaining axonal integrity and neuronal survival. NMNAT2 is essential for Wallerian degeneration protection and has been implicated in neurodegenerative disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Neurodegeneration (Wallerian degeneration) | Loss of NMNAT2 leads to NAD+ depletion and axonal degeneration | Mouse models; PMID: 20018752 |
| Alzheimer's disease | Reduced NMNAT2 expression correlates with tau pathology and cognitive decline | Human brain studies; PMID: 27157137 |
| Peripheral neuropathy | NMNAT2 deficiency impairs axon maintenance in peripheral nerves | Mouse models; PMID: 22585760 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 38.5 | High |
| Heart | 6.2 | Low |
| Liver | 1.8 | Not detected |
| Kidney | 3.1 | Low |
| Testis | 12.4 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 45.2 | High expression |
| HeLa (cervical carcinoma) | 8.7 | Moderate expression |
| HEK293 (embryonic kidney) | 5.3 | Low expression |
| HepG2 (hepatocellular carcinoma) | 2.1 | Very low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.110C>T (p.Thr37Met) | Missense | 0.001% (gnomAD) | Unknown functional impact |
| c.457G>A (p.Gly153Ser) | Missense | 0.002% (gnomAD) | Potential loss of enzyme activity |
| c.769C>T (p.Arg257Trp) | Missense | 0.0005% (gnomAD) | Reduced NAD+ synthesis in vitro |
Mutation functional classification
Loss of Function (LOF)
Mutations that reduce or abolish NMNAT2 enzymatic activity, leading to impaired NAD+ synthesis and increased axonal vulnerability.
Gain of Function (GOF)
Not reported; no known gain-of-function mutations.
Dominant Negative (DN)
Not reported; no evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Nicotinate and nicotinamide metabolism (KEGG: hsa00760)
• NAD+ biosynthesis (Reactome: R-HSA-196807)
Protein Summary
NMNAT2 is a 307-amino acid protein that belongs to the nicotinamide nucleotide adenylyltransferase family. It localizes to the cytoplasm and nucleus, forming homotetramers. The enzyme converts nicotinamide mononucleotide (NMN) and ATP to NAD+ and pyrophosphate. NMNAT2 is highly expressed in neurons and is critical for axon survival; its depletion triggers Wallerian degeneration. The protein also interacts with the SARM1 NADase to regulate NAD+ homeostasis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| NMNAT2 Knockout HEK293 Cell Line | EDJ-KQ7802 | Human | 23057 | Details Get a Quote |
| NMNAT2 Knockout HeLa Cell Line | EDJ-KQ33315 | Human | 23057 | Details Get a Quote |
| NMNAT2 Knockout A-549 Cell Line | EDJ-KQ64179 | Human | 23057 | Details Get a Quote |
| NMNAT2 Knockout HCT 116 Cell Line | EDJ-KQ72621 | Human | 23057 | Details Get a Quote |
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