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.

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 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
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