NNMT Gene - Nicotinamide N-Methyltransferase
Comprehensive gene card for NNMT: function, expression, mutations, and disease associations
Gene Information Card
| Symbol | NNMT |
|---|---|
| Full Name | Nicotinamide N-Methyltransferase |
| Gene Type | protein-coding |
| Chromosomal Location | 11q23.2 |
| NCBI Gene ID | 4837 ncbi.nlm.nih.gov/gene/4837 |
| Ensembl ID | ENSG00000166741 |
| UniProt ID | P40261 |
| OMIM ID | 600008 |
| HGNC ID | 7861 |
| Aliases | MGC14156, MGC14157 |
Description
NNMT encodes nicotinamide N-methyltransferase, an enzyme that catalyzes the N-methylation of nicotinamide and other pyridines. This reaction uses S-adenosyl-L-methionine as the methyl donor. NNMT is involved in the regulation of cellular methylation potential and energy metabolism, and its overexpression is associated with various cancers and metabolic disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (multiple types) | Overexpression of NNMT alters methylation balance and promotes tumor growth | PMID: 24623306; COSMIC |
| Parkinson's disease | NNMT activity influences nicotinamide metabolism and may affect neuronal function | PMID: 10642503; OMIM 600008 |
| Type 2 diabetes | NNMT expression in adipose tissue correlates with insulin resistance and metabolic dysregulation | PMID: 25344362 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Adipose tissue | 8.3 | Medium |
| Kidney | 6.1 | Low |
| Brain | 2.4 | Low |
| Heart | 1.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 15.2 | High expression |
| MCF7 | 9.7 | Moderate expression |
| A549 | 7.1 | Moderate expression |
| K562 | 3.4 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.472G>A (p.Val158Ile) | missense | <1% | Alters enzyme activity; associated with altered methylation capacity |
| c.627C>T (p.=) | synonymous | <1% | No known functional effect |
| c.1A>G (p.Met1Val) | missense | <0.1% | Potential loss of start codon; functional impact unclear |
Mutation functional classification
Loss of Function (LOF)
No well-characterized loss-of-function mutations reported in NNMT.
Gain of Function (GOF)
Overexpression in tumors suggests gain-of-function via increased methylation activity.
Dominant Negative (DN)
No dominant-negative mutations described.
View complete mutation data：
Gene Ontology (GO)
| • nicotinamide N-methyltransferase activity (GO:0008112) | • cytoplasm (GO:0005737) |
| • cytosol (GO:0005829) | • xenobiotic metabolic process (GO:0006805) |
| • methylation (GO:0032259) |
Pathways
• Nicotinate and nicotinamide metabolism (KEGG: hsa00760)
• Methylation (Reactome: R-HSA-156581)
Protein Summary
NNMT is a 264-amino acid cytoplasmic enzyme that methylates nicotinamide and related compounds. It plays a key role in regulating cellular methylation potential and NAD+ metabolism. Overexpression in cancers suggests a role in tumor metabolism and progression.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| NNMT Knockout HEK293 Cell Line | EDJ-KQ2713 | Human | 4837 | Details Get a Quote |
| NNMT Knockout A-549 Cell Line | EDJ-KQ23559 | Human | 4837 | Details Get a Quote |
| NNMT Knockout HeLa Cell Line | EDJ-KQ23560 | Human | 4837 | Details Get a Quote |
| NNMT Knockout HCT 116 Cell Line | EDJ-KQ70961 | Human | 4837 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
