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GeneE
10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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MYL12A
myosin light chain 12A
Chromosome 18 · 18p11.31
NCBI Gene: 10627Ensembl: ENSG00000101608.13HGNC: HGNC:16701UniProt: J3QRS3
122PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
platelet aggregationprotein bindingextracellular exosomemyosin II complexbrain aneurysmmajor salivary gland cancerneurodegenerative diseaseacute respiratory distress syndrome
✦AI Summary

MYL12A (myosin light chain 12A) is a regulatory subunit of myosin II that modulates contractile activity through phosphorylation-dependent mechanisms 1. MYL12A functions as an essential structural component that maintains myosin II stability and cellular integrity; knockdown studies demonstrate that normal MYL12A levels are critical for preserving myosin heavy chain (MYH9/MYH10) and essential light chain (MYL6) levels in fibroblasts 1. Beyond its canonical role in muscle contraction, MYL12A participates in non-muscle processes including cytokinesis and cell migration 2. Disease relevance spans multiple pathological contexts. In diffuse large B-cell lymphoma (DLBCL), MYL12A undergoes deubiquitination by the OTUD3 enzyme to promote cell survival, and inhibiting this pathway with Rupatadine shows therapeutic potential 3. MYL12A emerges as a prognostic biomarker in glioblastoma, where it localizes to tumor-immune microenvironment interfaces and correlates with immune infiltration 4. Altered MYL12A expression associates with tetralogy of Fallot congenital heart disease 5, brain lower grade glioma prognosis 6, severe fever with thrombocytopenia syndrome pathogenesis 7, and ankylosing spondylitis immune dysregulation 8. These findings suggest MYL12A serves dual roles: maintaining cellular mechanical properties while also functioning in disease-associated immune and inflammatory processes.

Sources cited
1
MYL12A is essential for maintaining myosin II structural integrity and cellular integrity; required for optimal interaction with myosin heavy chains MYH9/MYH10 and essential light chain MYL6
PMID: 21126233
2
MYL12A undergoes deubiquitination by OTUD3 in DLBCL to enhance cell survival; OTUD3 inhibitor Rupatadine reduces MYL12A deubiquitination
PMID: 39097608
3
MYL12A identified as prognostic biomarker in glioblastoma, distributed at tumor-peritumoral interface overlapping with immune-related gene expression
PMID: 40887297
4
MYL12A expression significantly altered in tetralogy of Fallot versus control right ventricle tissue
PMID: 38146097
5
MYL12A among 10 genes correlating with tumor purity and prognosis in brain lower grade glioma; associated with immunosuppressive macrophage infiltration
PMID: 32869484
6
MYL12A expression downregulated during SFTSV infection as part of platelet activation pathway inhibition, contributing to thrombocytopenia mechanism
PMID: 37211158
7
MYL12A highly expressed in leukocyte transendothelial migration pathway in ankylosing spondylitis patient PBMCs
PMID: 35371008
8
MYL12A upregulation associated with motility acquisition in methotrexate-induced senescent colon cancer cells
PMID: 21678067
Disease Associationsⓘ20
brain aneurysmOpen Targets
0.28Weak
major salivary gland cancerOpen Targets
0.27Weak
neurodegenerative diseaseOpen Targets
0.21Weak
acute respiratory distress syndromeOpen Targets
0.07Suggestive
connective tissue diseaseOpen Targets
0.07Suggestive
Adult-onset autosomal recessive sideroblastic anemiaOpen Targets
0.06Suggestive
celiac diseaseOpen Targets
0.05Suggestive
peritonitisOpen Targets
0.05Suggestive
dehydrated hereditary stomatocytosisOpen Targets
0.05Suggestive
Rh deficiency syndromeOpen Targets
0.05Suggestive
Hemoglobin E - beta-thalassemiaOpen Targets
0.05Suggestive
hemoglobin E-beta-thalassemia syndromeOpen Targets
0.05Suggestive
familial pseudohyperkalemiaOpen Targets
0.05Suggestive
Hemolytic anemia due to red cell pyruvate kinase deficiencyOpen Targets
0.04Suggestive
gluthathione peroxidase deficiencyOpen Targets
0.04Suggestive
FTH1-related iron overloadOpen Targets
0.04Suggestive
hemochromatosis type 5Open Targets
0.04Suggestive
hemolytic anemia due to erythrocyte adenosine deaminase overproductionOpen Targets
0.04Suggestive
microcytic anemia with liver iron overloadOpen Targets
0.04Suggestive
hemolytic anemia due to glutathione reductase deficiencyOpen Targets
0.04Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
ACTBProtein interaction99%ACTG1Protein interaction99%MYH1Protein interaction99%MYH2Protein interaction99%MYH3Protein interaction99%MYH4Protein interaction99%
Tissue Expression6 tissues
Heart
100%
Lung
39%
Liver
10%
Ovary
7%
Brain
6%
Bone Marrow
6%
Gene Interaction Network
Click a node to explore
MYL12AACTBACTG1MYH1MYH2MYH3MYH4
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt P19105
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.34LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.81 [0.51–1.34]
RankingsWhere MYL12A stands among ~20K protein-coding genes
  • #3,859of 20,598
    Most Researched122 · top quartile
  • #14,029of 17,882
    Most Constrained (LOEUF)1.34
Genes detectedMYL12A
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Rupatadine-inhibited OTUD3 promotes DLBCL progression and immune evasion through deubiquitinating MYL12A and PD-L1.
PMID: 39097608
Cell Death Dis · 2024
1.00
2
Potential Prognostic Markers for Glioblastoma Associated with the Glioma Immune Microenvironment.
PMID: 40887297
Biol Pharm Bull · 2025
0.90
3
Myosin regulatory light chains are required to maintain the stability of myosin II and cellular integrity.
PMID: 21126233
Biochem J · 2011
0.80
4
Meta-analysis reveals differential gene expression in tetralogy of Fallot versus controls.
PMID: 38146097
Birth Defects Res · 2024
0.70
5
Identification of purity and prognosis-related gene signature by network analysis and survival analysis in brain lower grade glioma.
PMID: 32869484
J Cell Mol Med · 2020
0.60