NTMT2 Gene - N-Terminal Xaa-Pro-Lys N-Methyltransferase 2
Comprehensive genomic and proteomic analysis of NTMT2, a methyltransferase involved in protein N-terminal methylation.
Gene Information Card
| Symbol | NTMT2 |
|---|---|
| Full Name | N-terminal Xaa-Pro-Lys N-methyltransferase 2 |
| Gene Type | protein-coding |
| Chromosomal Location | 4q31.1 |
| NCBI Gene ID | 80007 ncbi.nlm.nih.gov/gene/80007 |
| Ensembl ID | ENSG00000138669 |
| UniProt ID | Q8N6R0 |
| OMIM ID | 618086 |
| HGNC ID | 25882 |
| Aliases | METTL11B, C4orf14, NTM2 |
Description
NTMT2 (N-terminal Xaa-Pro-Lys N-methyltransferase 2) encodes a methyltransferase that catalyzes the trimethylation of the N-terminal residue of proteins starting with an Xaa-Pro-Lys motif. This post-translational modification is important for protein stability and function. The gene is located on chromosome 4q31.1 and is expressed in various tissues.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (general) | Altered methylation of N-terminal residues may affect protein function and contribute to oncogenesis. | Limited evidence; inferred from functional studies. |
| Developmental disorders | Potential role in neurodevelopment due to methylation of specific substrates. | Not directly established; based on homology to NTMT1. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Brain | 8.2 | Low |
| Liver | 6.1 | Low |
| Kidney | 5.4 | Low |
| Heart | 4.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 15.3 | Moderate expression |
| HeLa | 10.1 | Low expression |
| K562 | 7.8 | Low expression |
Data source:Human Protein Atlas(proteinatlas.org)
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.487C>T (p.Arg163Trp) | Missense | <0.01% | Unknown effect on enzyme activity |
| c.101G>A (p.Arg34Gln) | Missense | <0.01% | Unknown effect |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in major databases.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data:
Gene Ontology (GO)
| • protein N-terminal methyltransferase activity (GO:0008276) | • protein N-terminal lysine methyltransferase activity (GO:0016279) |
| • cytoplasm (GO:0005737) | • nucleus (GO:0005634) |
Pathways
• N-terminal methylation of proteins
Protein Summary
NTMT2 is a 262-amino acid protein that belongs to the class I-like SAM-dependent methyltransferase family. It specifically methylates the N-terminal alpha-amine of proteins with an N-terminal Xaa-Pro-Lys motif, generating a trimethylated lysine residue. This modification is irreversible and influences protein-protein interactions and stability.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| NTMT2 Knockout HEK293 Cell Line | EDJ-KQ2683 | Human | 149281 | Details Get a Quote |
| NTMT2 Knockout HeLa Cell Line | EDJ-KQ22121 | Human | 149281 | Details Get a Quote |
| NTMT2 Knockout A-549 Cell Line | EDJ-KQ23492 | Human | 149281 | Details Get a Quote |
| NTMT2 Knockout HCT 116 Cell Line | EDJ-KQ23493 | Human | 149281 | Details Get a Quote |