METTL18: Methyltransferase Like 18
A ribosomal RNA methyltransferase with emerging roles in cancer and development
Gene Information Card
| Symbol | METTL18 |
|---|---|
| Full Name | Methyltransferase Like 18 |
| Gene Type | Protein coding |
| Chromosomal Location | 1q24.2 |
| NCBI Gene ID | 149465 ncbi.nlm.nih.gov/gene/149465 |
| Ensembl ID | ENSG00000143178 |
| UniProt ID | Q9H7X3 |
| OMIM ID | 618837 |
| HGNC ID | 28387 |
| Aliases | HPM1, METTL18A, MGC13170 |
Description
METTL18 (Methyltransferase Like 18) encodes a protein that belongs to the methyltransferase superfamily. It functions as a ribosomal RNA methyltransferase, specifically catalyzing the methylation of 18S rRNA at position G1639. This modification is important for ribosome biogenesis and translational fidelity. METTL18 has been implicated in cellular proliferation and differentiation, and its dysregulation is associated with certain cancers and developmental disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Altered METTL18 expression may affect ribosome function and protein synthesis, promoting uncontrolled cell growth. | COSMIC; literature |
| Developmental disorders | Mutations in METTL18 may disrupt rRNA methylation, impairing ribosome assembly and leading to developmental abnormalities. | OMIM; ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 8.2 | Medium |
| Bone marrow | 6.5 | Medium |
| Lymph node | 5.1 | Low |
| Brain | 3.8 | Low |
| Liver | 2.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 7.1 | Embryonic kidney; moderate expression |
| HeLa | 6.3 | Cervical cancer; moderate expression |
| K562 | 5.8 | Leukemia; moderate expression |
| HepG2 | 4.2 | Liver cancer; low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.487C>T (p.Arg163Trp) | Missense | <0.1% | Unknown functional impact; reported in COSMIC |
| c.632A>G (p.Asn211Ser) | Missense | <0.1% | Unknown functional impact; reported in COSMIC |
Mutation functional classification
Loss of Function (LOF)
Not well characterized; some missense variants may reduce methyltransferase activity.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • methyltransferase activity | • rRNA methylation |
| • ribosome biogenesis | • nucleus |
| • cytoplasm |
Pathways
• rRNA processing in the nucleus and cytosol
• Ribosome biogenesis in eukaryotes
Protein Summary
METTL18 is a 285-amino acid protein with a methyltransferase domain. It localizes to the nucleus and cytoplasm, where it methylates 18S rRNA at G1639. This modification is critical for proper ribosome assembly and translation. The protein is expressed in multiple tissues, with highest levels in testis and bone marrow. Mutations in METTL18 are rare but have been identified in cancer samples, though their functional consequences remain largely unknown.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| METTL18 Knockout HEK293 Cell Line | EDJ-KQ10887 | Human | 92342 | Details Get a Quote |
| METTL18 Knockout A-549 Cell Line | EDJ-KQ37284 | Human | 92342 | Details Get a Quote |
| METTL18 Knockout HCT 116 Cell Line | EDJ-KQ38583 | Human | 92342 | Details Get a Quote |
| METTL18 Knockout HeLa Cell Line | EDJ-KQ38584 | Human | 92342 | Details Get a Quote |
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