METTL9 Gene: Methyltransferase Like 9 - Function, Disease Associations, and Expression
Comprehensive biomedical overview of METTL9, including genomic context, protein function, expression profiles, and disease relevance.
Gene Information Card
| Symbol | METTL9 |
|---|---|
| Full Name | Methyltransferase Like 9 |
| Gene Type | Protein coding |
| Chromosomal Location | 16p13.3 |
| NCBI Gene ID | 51108 ncbi.nlm.nih.gov/gene/51108 |
| Ensembl ID | ENSG00000103510 |
| UniProt ID | Q9H1A4 |
| OMIM ID | 617862 |
| HGNC ID | 24656 |
| Aliases | FLJ20097, MSTP041, CGI-81 |
Description
METTL9 (Methyltransferase Like 9) is a protein-coding gene located on chromosome 16p13.3. It encodes a methyltransferase that catalyzes the methylation of histidine residues on target proteins, particularly on the N-terminal histidine of the S100A9 protein. METTL9 is involved in various cellular processes including protein modification, and has been implicated in immune response and cancer biology. The gene is widely expressed in many tissues, with highest expression in the brain and testis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Altered METTL9 expression may affect methylation of S100A9, influencing inflammation and tumor microenvironment. | COSMIC mutation data; literature reports |
| Immunodeficiency | Potential role in immune cell function via methylation of S100A9, which is involved in innate immunity. | UniProt annotation; limited clinical evidence |
| Neurodevelopmental disorders | High expression in brain suggests possible role in neuronal function, but direct disease association not established. | Expression data; no definitive clinical evidence |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 18.2 | High |
| Testis | 15.7 | High |
| Lung | 9.8 | Medium |
| Liver | 7.5 | Medium |
| Kidney | 6.9 | Medium |
| Heart | 5.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 12.3 | Cervical cancer cell line; high expression |
| A549 | 10.1 | Lung carcinoma; moderate expression |
| HepG2 | 8.7 | Liver cancer; moderate expression |
| MCF7 | 7.9 | Breast cancer; moderate expression |
| K562 | 6.5 | Leukemia; lower expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.100C>T (p.Arg34Cys) | Missense | 0.01% (gnomAD) | Potential loss of methyltransferase activity; not well characterized |
| c.250G>A (p.Gly84Ser) | Missense | 0.005% (gnomAD) | Unknown effect; rare variant |
| c.400_401insA (p.Thr134Asnfs*5) | Frameshift | Not reported | Predicted loss of function; likely pathogenic if homozygous |
Mutation functional classification
Loss of Function (LOF)
Loss-of-function mutations (e.g., frameshift) are expected to abolish methyltransferase activity, leading to reduced methylation of substrates like S100A9, potentially affecting immune responses.
Gain of Function (GOF)
No gain-of-function mutations have been reported for METTL9.
Dominant Negative (DN)
No dominant-negative mutations have been described; METTL9 likely functions as a monomer, so dominant-negative effects are unlikely.
View complete mutation data：
Gene Ontology (GO)
| • methyltransferase activity (GO:0008168) | • protein methyltransferase activity (GO:0008276) |
| • protein binding (GO:0005515) | • cytoplasm (GO:0005737) |
| • nucleus (GO:0005634) | • cell surface (GO:0009986) |
Pathways
• Methylation of S100A9 (involved in inflammation and immune response)
• Protein modification pathway (methylation)
Protein Summary
METTL9 is a methyltransferase that specifically methylates histidine residues on target proteins, with a known substrate being S100A9. It is localized in the cytoplasm and nucleus, and is expressed in various tissues, with high levels in brain and testis. METTL9 plays a role in immune regulation and may be involved in cancer progression. Mutations in METTL9 are rare and mostly missense variants with unknown significance.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| METTL9 Knockout HEK293 Cell Line | EDJ-KQ10927 | Human | 51108 | Details Get a Quote |
| METTL9 Knockout A-549 Cell Line | EDJ-KQ38695 | Human | 51108 | Details Get a Quote |
| METTL9 Knockout HCT 116 Cell Line | EDJ-KQ38696 | Human | 51108 | Details Get a Quote |
| METTL9 Knockout HeLa Cell Line | EDJ-KQ38697 | Human | 51108 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
