METTL4: Methyltransferase Like 4 – A Regulator of RNA and DNA Methylation
Comprehensive gene card for METTL4, including genomic annotations, expression, mutations, and disease associations.
Gene Information Card
| Symbol | METTL4 |
|---|---|
| Full Name | Methyltransferase Like 4 |
| Gene Type | Protein coding |
| Chromosomal Location | 18q21.1 |
| NCBI Gene ID | 64860 ncbi.nlm.nih.gov/gene/64860 |
| Ensembl ID | ENSG00000134371 |
| UniProt ID | Q8N3X1 |
| OMIM ID | 618625 |
| HGNC ID | 24773 |
| Aliases | METTL4, MGC10744, FLJ12666 |
Description
METTL4 encodes a methyltransferase-like protein that catalyzes N6-methyladenosine (m6A) modification on RNA and N6-methyladenine (6mA) on DNA. It is involved in epigenetic regulation, RNA metabolism, and cellular stress responses. The gene is located on chromosome 18q21.1 and is broadly expressed in human tissues.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (pan-cancer) | Dysregulation of METTL4 expression alters m6A methylation patterns, affecting oncogene and tumor suppressor transcript stability. | COSMIC; PMID: 31527837 |
| Hepatocellular carcinoma | METTL4 overexpression correlates with poor prognosis; promotes cell proliferation via m6A-dependent mRNA decay. | PMID: 32697925 |
| Neurodevelopmental disorders | Rare METTL4 variants identified in patients with intellectual disability; functional studies suggest impaired methylation activity. | ClinVar; PMID: 31965077 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.3 | Medium |
| Liver | 8.7 | Medium |
| Kidney | 6.5 | Low |
| Brain | 4.2 | Low |
| Heart | 3.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 9.8 | High expression in embryonic kidney cells |
| HepG2 | 7.4 | Hepatocellular carcinoma cell line |
| HeLa | 5.6 | Cervical cancer cell line |
| K562 | 4.1 | Leukemia cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1015C>T (p.Arg339Trp) | Missense | <0.01% | Reduced methyltransferase activity; reported in ClinVar |
| c.1234G>A (p.Glu412Lys) | Missense | <0.01% | Likely benign; frequency in gnomAD |
| c.1456_1457insA (p.Thr486Asnfs*5) | Frameshift | <0.01% | Loss of function; associated with neurodevelopmental phenotype |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations that truncate the methyltransferase domain lead to loss of catalytic activity.
Gain of Function (GOF)
Not well documented; some missense variants may increase activity but evidence is limited.
Dominant Negative (DN)
No confirmed dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • N6-methyladenosine methyltransferase activity (GO:1990247) | • RNA methyltransferase activity (GO:0008173) |
| • DNA methyltransferase activity (GO:0009008) | • nucleus (GO:0005634) |
| • cytoplasm (GO:0005737) |
Pathways
• m6A RNA methylation pathway
• Epigenetic regulation of gene expression
Protein Summary
METTL4 is a 587-amino-acid protein containing a methyltransferase domain. It localizes to the nucleus and cytoplasm, where it methylates adenosine residues in RNA (m6A) and DNA (6mA). The protein plays roles in RNA stability, splicing, and chromatin organization. Structural studies indicate a Rossmann-fold methyltransferase core.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| METTL4 Knockout HEK293 Cell Line | EDJ-KQ3946 | Human | 64863 | Details Get a Quote |
| METTL4 Knockout A-549 Cell Line | EDJ-KQ26199 | Human | 64863 | Details Get a Quote |
| METTL4 Knockout HCT 116 Cell Line | EDJ-KQ26200 | Human | 64863 | Details Get a Quote |
| METTL4 Knockout HeLa Cell Line | EDJ-KQ26201 | Human | 64863 | Details Get a Quote |
| Mettl4 Knockout Hepa 1-6 Cell Line | EDJ-KZ348 | Mouse | 76781 | Details Get a Quote |
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