MTLN (Myoregulin) Gene
A key regulator of muscle calcium handling and sarcoplasmic reticulum function
Gene Information Card
| Symbol | MTLN |
|---|---|
| Full Name | Myoregulin |
| Gene Type | protein-coding |
| Chromosomal Location | 2q37.3 |
| NCBI Gene ID | 100129924 ncbi.nlm.nih.gov/gene/100129924 |
| Ensembl ID | ENSG00000205730 |
| UniProt ID | P0C7H8 |
| OMIM ID | 617492 |
| HGNC ID | HGNC:40006 |
| Aliases | C2orf34, MGC26733 |
Description
The MTLN gene encodes myoregulin, a small micropeptide (46 amino acids) that directly inhibits the sarco/endoplasmic reticulum Ca2+-ATPase (SERCA) pump in skeletal and cardiac muscle. Myoregulin is a member of the SERCA-regulating micropeptide family, which includes phospholamban and sarcolipin. It modulates calcium reuptake into the sarcoplasmic reticulum, thereby influencing muscle contraction and relaxation dynamics. MTLN expression is highly enriched in skeletal muscle and to a lesser extent in cardiac muscle.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Muscle fatigue and exercise intolerance | Myoregulin inhibition of SERCA reduces calcium reuptake efficiency, impairing muscle relaxation and increasing fatigue susceptibility. | Animal models; functional studies (PMID: 26668356) |
| Cardiac hypertrophy | Altered myoregulin expression may disrupt calcium homeostasis in cardiomyocytes, contributing to hypertrophic signaling. | Expression analysis in human heart failure samples (PMID: 26668356) |
| Malignant hyperthermia susceptibility | Potential dysregulation of SERCA by myoregulin variants could exacerbate calcium release in response to anesthetics. | Hypothetical based on SERCA regulatory role; no direct clinical evidence yet. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Skeletal muscle | 48.2 | High |
| Heart | 12.5 | Medium |
| Smooth muscle | 3.1 | Low |
| Brain | 0.8 | Not detected |
| Liver | 0.2 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| LHCN-M2 (skeletal myotubes) | 52.1 | Differentiated myotubes |
| AC16 (cardiomyocytes) | 14.3 | Cardiac cell line |
| C2C12 (mouse myoblasts) | 8.7 | Undifferentiated myoblasts |
| HEK293 | 0.1 | Non-muscle control |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | <0.01% | Potential loss of start codon; predicted loss of function |
| c.46C>T (p.Arg16Trp) | Missense | <0.01% | Unknown effect; located in transmembrane domain |
| c.138G>A (p.Trp46*) | Nonsense | <0.01% | Premature stop; likely loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense and start-loss variants are predicted to abolish myoregulin protein expression, leading to reduced SERCA inhibition and potentially enhanced calcium reuptake.
Gain of Function (GOF)
No gain-of-function variants have been reported for MTLN.
Dominant Negative (DN)
No dominant-negative mechanisms have been described for MTLN mutations.
View complete mutation data：
Gene Ontology (GO)
| • sarcolemma (GO:0042383) | • endoplasmic reticulum membrane (GO:0005789) |
| • identical protein binding (GO:0042802) | • cardiac muscle contraction (GO:0060048) |
| • skeletal muscle contraction (GO:0014806) | • regulation of calcium ion transmembrane transport via SERCA (GO:1901891) |
Pathways
• REACT: R-HSA-5576892 (Regulation of calcium handling by SERCA)
• REACT: R-HSA-397014 (Muscle contraction)
Protein Summary
Myoregulin is a 46-amino-acid single-pass transmembrane micropeptide localized to the sarcoplasmic reticulum membrane. It binds directly to the SERCA pump (ATP2A1/2) and inhibits its activity by reducing the affinity for calcium, thereby slowing calcium reuptake into the sarcoplasmic reticulum. This regulation is critical for fine-tuning muscle relaxation and contractile force. Myoregulin is structurally and functionally similar to phospholamban and sarcolipin but is predominantly expressed in skeletal muscle.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MTLN Knockout HEK293 Cell Line | EDJ-KQ6132 | Human | 205251 | Details Get a Quote |
| MTLN Knockout A-549 Cell Line | EDJ-KQ29909 | Human | 205251 | Details Get a Quote |
| MTLN Knockout HCT 116 Cell Line | EDJ-KQ29910 | Human | 205251 | Details Get a Quote |
| MTLN Knockout HeLa Cell Line | EDJ-KQ29911 | Human | 205251 | Details Get a Quote |
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