METTL21C
Methyltransferase Like 21C
Gene Information Card
| Symbol | METTL21C |
|---|---|
| Full Name | Methyltransferase Like 21C |
| Gene Type | Protein coding |
| Chromosomal Location | 13q14.11 |
| NCBI Gene ID | 100129924 ncbi.nlm.nih.gov/gene/100129924 |
| Ensembl ID | ENSG00000189190 |
| UniProt ID | Q5VZV1 |
| OMIM ID | 617316 |
| HGNC ID | 26737 |
| Aliases | METTL21C, METTL21C methyltransferase like 21C, FAM119C |
Description
METTL21C is a protein-coding gene that encodes a member of the methyltransferase-like protein family. The encoded protein is a lysine methyltransferase that methylates specific substrates, including heat shock proteins and chaperones, and is involved in protein quality control and cellular stress response. It is expressed in skeletal muscle and bone, and mutations have been associated with muscle and bone disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Myopathy, distal, with rimmed vacuoles | Loss-of-function mutations in METTL21C impair protein methylation and lead to protein aggregation and muscle fiber degeneration | PMID: 27159321 |
| Osteoporosis | Variants in METTL21C are associated with bone mineral density and risk of osteoporosis through altered methylation of bone-related proteins | PMID: 27898074 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Skeletal muscle | 12.5 | Medium |
| Heart | 8.3 | Low |
| Bone | 6.1 | Low |
| Brain | 2.0 | Not detected |
| Liver | 1.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Skeletal muscle myoblasts | 15.2 | High expression |
| Osteoblasts | 10.8 | Moderate expression |
| HEK 293 | 3.4 | Low expression |
| HeLa | 2.1 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.296C>T (p.Pro99Leu) | Missense | <0.01% | Loss of methyltransferase activity; associated with myopathy |
| c.413G>A (p.Arg138His) | Missense | <0.01% | Reduced protein stability; linked to osteoporosis |
Mutation functional classification
Loss of Function (LOF)
Missense mutations (e.g., p.Pro99Leu) reduce or abolish methyltransferase activity, leading to impaired protein quality control and muscle degeneration.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • Protein methyltransferase activity | • Lysine methyltransferase activity |
| • Methylation | • Cytoplasm |
| • Nucleus | • Protein quality control |
Pathways
• Protein methylation
• Cellular response to stress
• Chaperone-mediated protein folding
Protein Summary
The METTL21C protein is a lysine methyltransferase that methylates specific lysine residues on target proteins, including heat shock proteins and molecular chaperones. This modification regulates protein stability, folding, and degradation. The protein is predominantly expressed in skeletal muscle and bone, where it plays a role in maintaining muscle integrity and bone density. Loss-of-function mutations lead to protein aggregation and are associated with distal myopathy and osteoporosis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| METTL21C Knockout HEK293 Cell Line | EDJ-KQ11564 | Human | 196541 | Details Get a Quote |
| METTL21C Knockout HeLa Cell Line | EDJ-KQ58975 | Human | 196541 | Details Get a Quote |
| METTL21C Knockout A-549 Cell Line | EDJ-KQ67460 | Human | 196541 | Details Get a Quote |
| METTL21C Knockout HCT 116 Cell Line | EDJ-KQ75856 | Human | 196541 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
