NMRK2 (Nicotinamide Riboside Kinase 2)
A key enzyme in NAD+ salvage synthesis, implicated in metabolic and cardiovascular regulation.
Gene Information Card
| Symbol | NMRK2 |
|---|---|
| Full Name | Nicotinamide Riboside Kinase 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 19p13.3 |
| NCBI Gene ID | 27231 ncbi.nlm.nih.gov/gene/27231 |
| Ensembl ID | ENSG00000104879 |
| UniProt ID | Q9NWW6 |
| OMIM ID | 610907 |
| HGNC ID | 17857 |
| Aliases | MIBP, ITGB1BP3, NRK2 |
Description
NMRK2 encodes nicotinamide riboside kinase 2, an enzyme that phosphorylates nicotinamide riboside (NR) to form nicotinamide mononucleotide (NMN), a critical step in the NAD+ salvage pathway. This gene is predominantly expressed in heart and skeletal muscle and plays a role in cellular energy metabolism and stress responses.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cardiovascular disease | NMRK2 deficiency impairs NAD+ salvage, reducing ATP production and cardiac function | PMID: 30936460 |
| Metabolic syndrome | Altered NMRK2 expression affects NAD+ homeostasis and insulin sensitivity | PMID: 32029634 |
| Muscle atrophy | Reduced NMRK2 activity leads to decreased NAD+ levels and mitochondrial dysfunction | PMID: 31551530 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 45.2 | High |
| Skeletal muscle | 38.7 | High |
| Liver | 2.1 | Low |
| Kidney | 1.8 | Low |
| Brain | 0.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Cardiomyocytes (AC16) | 52.3 | High expression |
| Skeletal muscle myoblasts (LHCN-M2) | 41.0 | High expression |
| HepG2 | 1.9 | Low expression |
| HEK293 | 0.8 | Very low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | <0.01% | Loss of start codon, likely loss of function |
| c.374C>T (p.Thr125Met) | Missense | 0.02% | Reduced kinase activity |
| c.512G>A (p.Arg171His) | Missense | 0.01% | Impaired substrate binding |
Mutation functional classification
Loss of Function (LOF)
Mutations such as c.1A>G lead to complete loss of enzyme activity, reducing NAD+ synthesis.
Gain of Function (GOF)
No gain-of-function mutations reported in NMRK2.
Dominant Negative (DN)
No dominant-negative mutations described for NMRK2.
View complete mutation data：
Gene Ontology (GO)
| • ATP binding (GO:0005524) | • kinase activity (GO:0016301) |
| • NAD+ salvage (GO:0034354) | • cytoplasm (GO:0005737) |
| • protein homodimerization activity (GO:0042803) |
Pathways
• Nicotinamide riboside salvage pathway (Reactome: R-HSA-197264)
• NAD+ metabolism (KEGG: hsa00760)
Protein Summary
NMRK2 is a 230-amino acid protein localized in the cytoplasm. It catalyzes the phosphorylation of nicotinamide riboside to NMN using ATP. The enzyme is highly expressed in cardiac and skeletal muscle, where it supports NAD+ regeneration critical for mitochondrial function and energy homeostasis. Structural studies show a homodimeric conformation with a conserved kinase domain.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| NMRK2 Knockout HEK293 Cell Line | EDJ-KQ51209 | Human | 27231 | Details Get a Quote |
| NMRK2 Knockout HeLa Cell Line | EDJ-KQ56035 | Human | 27231 | Details Get a Quote |
| NMRK2 Knockout A-549 Cell Line | EDJ-KQ64522 | Human | 27231 | Details Get a Quote |
| NMRK2 Knockout HCT 116 Cell Line | EDJ-KQ72980 | Human | 27231 | Details Get a Quote |
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