METTL16
Methyltransferase Like 16: A Key Regulator of RNA Methylation and Splicing
Gene Information Card
| Symbol | METTL16 |
|---|---|
| Full Name | Methyltransferase Like 16 |
| Gene Type | Protein coding |
| Chromosomal Location | 17p13.3 |
| NCBI Gene ID | 79066 ncbi.nlm.nih.gov/gene/79066 |
| Ensembl ID | ENSG00000108379 |
| UniProt ID | Q9BTA9 |
| OMIM ID | 616660 |
| HGNC ID | 26549 |
| Aliases | METT10D, METTL16, MGC13170 |
Description
METTL16 encodes a methyltransferase that catalyzes N6-methyladenosine (m6A) modification of RNA, primarily targeting U6 snRNA and specific mRNAs. It plays a critical role in RNA splicing, stability, and translation regulation. METTL16 is essential for cell proliferation and is implicated in cancer and developmental disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (multiple types) | Dysregulation of METTL16 alters m6A methylation of oncogenes and tumor suppressors, affecting cell cycle and apoptosis | PMID: 32059760 |
| Intellectual disability | Loss-of-function mutations in METTL16 impair RNA splicing and neuronal development | ClinVar: RCV001851737 |
| Developmental delay | Homozygous METTL16 variants disrupt RNA metabolism, leading to global developmental delay | OMIM: 616660 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 15.2 | High |
| Bone marrow | 10.8 | Medium |
| Brain | 8.5 | Medium |
| Liver | 7.3 | Medium |
| Heart | 5.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 12.4 | Embryonic kidney cells |
| HeLa | 9.8 | Cervical cancer cells |
| K562 | 11.1 | Leukemia cells |
| HepG2 | 7.6 | Liver cancer cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1015C>T (p.Arg339Trp) | Missense | 0.001% | Loss of methyltransferase activity |
| c.1246G>A (p.Gly416Arg) | Missense | 0.002% | Reduced RNA binding |
| c.1A>G (p.Met1Val) | Start loss | <0.001% | Complete loss of function |
Mutation functional classification
Loss of Function (LOF)
Missense and truncating mutations in the methyltransferase domain reduce or abolish m6A catalytic activity, leading to impaired RNA splicing and cell proliferation.
Gain of Function (GOF)
Not reported in METTL16.
Dominant Negative (DN)
Not reported in METTL16.
View complete mutation data：
Gene Ontology (GO)
| • RNA N6-methyladenosine methyltransferase activity | • mRNA binding |
| • U6 snRNA binding | • nucleus |
| • nucleoplasm | • RNA splicing |
| • regulation of gene expression |
Pathways
• m6A methylation pathway
• RNA splicing via U6 snRNA modification
Protein Summary
METTL16 is a 562-amino acid protein containing a methyltransferase domain. It specifically methylates the N6 position of adenosine in RNA, with a primary substrate being U6 snRNA at position A43. This modification is essential for U6 snRNA stability and spliceosome assembly. METTL16 also methylates a subset of mRNAs, including MAT2A, to regulate methionine metabolism. The protein localizes to the nucleus and is ubiquitously expressed, with highest levels in testis and bone marrow.
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