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25 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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MRTFA
myocardin related transcription factor A
Chromosome 22 · 22q13.1-q13.2
NCBI Gene: 57591Ensembl: ENSG00000196588.21HGNC: HGNC:14334UniProt: A0A494BZX7
186PubMed Papers
21Diseases
0Drugs
1Pathogenic Variants
FUNCTIONAL ROLE
OncogeneTranscription Factor
RESEARCH IMPACT
Trending
CLINICAL
OMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
transcription coactivator activityactin bindingnucleusnucleoplasmimmunodeficiency 66breast carcinomabreast cancerschizophrenia
✦AI Summary

MRTFA (myocardin-related transcription factor A) is a transcriptional coactivator that forms complexes with serum response factor (SRF) to regulate cytoskeletal gene expression and cellular responses to mechanical stimuli 1. The protein functions as a mechanotransduction sensor through its RPEL repeats, which bind globular actin (G-actin), allowing MRTFA to respond to changes in actin dynamics and translocate to the nucleus where it activates SRF-dependent transcription 2. MRTFA plays critical roles in cellular differentiation, including cardiomyocyte maturation, where it regulates sarcomere assembly and mitochondrial metabolism 2, and vascular smooth muscle cell phenotype switching in atherosclerosis 3. Disease relevance includes immunodeficiency, with compound heterozygous mutations causing neutrophil dysfunction, impaired neutrophil migration, and autoinflammatory manifestations 4. MRTFA also contributes to cancer progression, promoting pancreatic cancer growth and metastasis through KRAS and epithelial-mesenchymal transition signaling pathways 5. Additionally, MRTFA responds to matrix stiffness in intervertebral disc degeneration, regulating nucleus pulposus cell glycolysis through AMPK pathway modulation 6. The protein's ability to couple mechanical forces to transcriptional responses makes it a key regulator in tissue homeostasis and disease progression.

Sources cited
1
MRTFA is a coactivator of serum response factor that participates in cell growth, apoptosis, and hematopoietic differentiation
PMID: 33722605
2
MRTFA functions in mechanotransduction through actin binding and regulates cardiomyocyte maturation via SRF signaling
PMID: 39113806
3
MRTFA contributes to vascular smooth muscle cell phenotype switching in atherosclerosis
PMID: 39977233
4
Compound heterozygous MRTFA mutations cause neutrophil dysfunction and autoinflammatory manifestations
PMID: 40808667
5
MRTFA promotes pancreatic cancer growth and metastasis through KRAS and EMT signaling pathways
PMID: 39745352
6
MRTFA responds to matrix stiffness and regulates nucleus pulposus cell glycolysis through AMPK pathway
PMID: 39952914
Disease Associationsⓘ21
immunodeficiency 66Open Targets
0.53Moderate
breast carcinomaOpen Targets
0.47Moderate
breast cancerOpen Targets
0.43Moderate
schizophreniaOpen Targets
0.38Weak
melanomaOpen Targets
0.38Weak
Abnormality of the skeletal systemOpen Targets
0.38Weak
prostate adenocarcinomaOpen Targets
0.37Weak
gastric carcinomaOpen Targets
0.37Weak
lung carcinomaOpen Targets
0.37Weak
bile duct carcinomaOpen Targets
0.37Weak
breast ductal adenocarcinomaOpen Targets
0.37Weak
carcinoma of liver and intrahepatic biliary tractOpen Targets
0.37Weak
esophageal adenocarcinomaOpen Targets
0.37Weak
Hepatobiliary NeoplasmOpen Targets
0.37Weak
kidney neoplasmOpen Targets
0.37Weak
lymphoid neoplasmOpen Targets
0.37Weak
Ovarian Endometrioid Adenocarcinoma with Squamous DifferentiationOpen Targets
0.37Weak
pancreatic ductal adenocarcinomaOpen Targets
0.37Weak
skin carcinomaOpen Targets
0.37Weak
skin squamous cell carcinomaOpen Targets
0.37Weak
Immunodeficiency 66UniProt
Pathogenic Variants1
NM_020831.6(MRTFA):c.2467A>T (p.Lys823Ter)Pathogenic
Immunodeficiency 66
☆☆☆☆2024→ Residue 823
View on ClinVar ↗
Related Genes
SMARCA4Protein interaction97%RBM15Protein interaction95%ACTA1Protein interaction90%PHACTR1Protein interaction90%WDR5Protein interaction90%HSDL2Protein interaction89%
Tissue Expression6 tissues
Bone Marrow
100%
Lung
44%
Ovary
33%
Brain
26%
Heart
23%
Liver
17%
Gene Interaction Network
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MRTFASMARCA4RBM15ACTA1PHACTR1WDR5HSDL2
PROTEIN STRUCTURE
Preparing viewer…
PDB2KVU · NMR
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.39Moderately Constrained
pLIⓘ
1.00Intolerant
Observed/Expected LoF0.27 [0.19–0.39]
RankingsWhere MRTFA stands among ~20K protein-coding genes
  • #2,310of 20,598
    Most Researched186 · top quartile
  • #4,740of 5,498
    Most Pathogenic Variants1
  • #1,890of 17,882
    Most Constrained (LOEUF)0.39 · top quartile
Genes detectedMRTFA
Sources retrieved25 papers
Response time—
📄 Sources
25▼
1
Mechanisms of stretch-mediated skin expansion at single-cell resolution.
PMID: 32728211
Nature · 2020
1.00
2
Methyltransferase-like 3-catalysed N6-methyladenosine methylation facilitates the contribution of vascular smooth muscle cells to atherosclerosis.
PMID: 39977233
Cardiovasc Res · 2025
0.90
3
MICAL2 Promotes Pancreatic Cancer Growth and Metastasis.
PMID: 39745352
Cancer Res · 2025
0.80
4
MRTFA: A critical protein in normal and malignant hematopoiesis and beyond.
PMID: 33722605
J Biol Chem · 2021
0.70
5
Cypher/ZASP drives cardiomyocyte maturation via actin-mediated MRTFA-SRF signalling.
PMID: 39113806
Theranostics · 2024
0.60