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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
MRTFB
myocardin related transcription factor B
Chromosome 16 Β· 16p13.12
NCBI Gene: 57496Ensembl: ENSG00000186260.17HGNC: HGNC:29819UniProt: I3L2S3
91PubMed Papers
20Diseases
0Drugs
3Pathogenic Variants
FUNCTIONAL ROLE
Transcription Factor
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
protein bindingnuclear speckcadherin bindingpositive regulation of striated muscle tissue developmentAbnormality of the skeletal systembreast benign neoplasmsmoking initiationsynovium disorder
✦AI Summary

MRTFB (myocardin-related transcription factor B) functions as a transcriptional coactivator of serum response factor (SRF) that links actin cytoskeleton dynamics to gene expression. 1 MRTFB contains N-terminal actin-binding motifs and translocates to the nucleus upon Rho signaling-mediated release from G-actin, increasing SRF-dependent transcription. 1 In pancreatic cancer, MRTFB is modulated by MICAL2-induced actin depolymerization; notably, MRTFB alone phenocopies MICAL2-driven tumor growth and metastasis in vivo. 2 Conversely, MRTFB acts as a tumor suppressor in colorectal cancer by transcriptionally activating MCAM and SPDL1, genes that inhibit cell invasion and migration. 3 In smooth muscle cells, MRTFB suppresses inflammation by inactivating TBK1 kinase, providing defense against pro-inflammatory insults. 4 MRTFB mediates neuronal plasticity downstream of BDNF signaling, regulating dendritic morphology and gene expression essential for learning and memory. 1 Pathologically, MRTFB gene fusions with CRTC1 or TEAD1 drive myxoid mesenchymal neoplasms with myogenic differentiation. 5 6 De novo gain-of-function variants (R104G, A91P) in MRTFB cause decreased actin binding and increased transcriptional activity, resulting in a novel neurodevelopmental disorder with intellectual disability and dysmorphic features. 7 MRTFB also contributes to HIV-1 latency establishment. 8

Sources cited
1
MRTFB is an SRF coactivator whose availability is modulated by MICAL2; MRTFB phenocopies MICAL2 in promoting PDAC tumor growth and metastasis
PMID: 39745352
2
MRTFB has actin-binding motifs, acts as SRF cofactor, and translocates to nucleus via Rho signaling to regulate neuronal morphology and plasticity via BDNF signaling
PMID: 41320266
3
MRTFB functions as a colorectal cancer tumor suppressor by activating MCAM and SPDL1 transcription to inhibit cell invasion and migration
PMID: 31690663
4
MRTFB suppresses smooth muscle cell inflammation by inactivating TBK1 kinase in the cGAS-STING pathway
PMID: 38858497
5
CRTC1::MRTFB gene fusion occurs in myxoid mesenchymal neoplasms with myogenic differentiation in bone and soft tissues
PMID: 38763420
6
TEAD1::MRTFB fusion detected in myxoinflammatory fibroblastic sarcoma, involved in TEAD-regulated gene activation
PMID: 35776191
7
De novo MRTFB variants (R104G, A91P) show gain-of-function activity with decreased actin binding and increased transcriptional activity, causing neurodevelopmental disorder with intellectual disability
PMID: 37013900
8
MRTFB contributes to HIV-1 latency persistence in infected cells
PMID: 40497153
Disease Associationsβ“˜20
Abnormality of the skeletal systemOpen Targets
0.38Weak
breast benign neoplasmOpen Targets
0.31Weak
smoking initiationOpen Targets
0.29Weak
synovium disorderOpen Targets
0.29Weak
parasitic infectionOpen Targets
0.29Weak
auditory system diseaseOpen Targets
0.28Weak
placental retentionOpen Targets
0.28Weak
ovarian dysfunctionOpen Targets
0.28Weak
benign neoplasmOpen Targets
0.26Weak
placenta praeviaOpen Targets
0.25Weak
androgenetic alopeciaOpen Targets
0.18Weak
hypothyroidismOpen Targets
0.17Weak
atrial fibrillationOpen Targets
0.16Weak
Toxic Nodular GoiterOpen Targets
0.14Weak
goiterOpen Targets
0.13Weak
injuryOpen Targets
0.13Weak
trauma complicationOpen Targets
0.13Weak
Precordial painOpen Targets
0.12Weak
Hashimoto's thyroiditisOpen Targets
0.12Weak
cataractOpen Targets
0.12Weak
Pathogenic Variants3
NM_001308142.2(MRTFB):c.271G>C (p.Ala91Pro)Pathogenic
MRTFB-related disorder
β˜…β˜†β˜†β˜†2024β†’ Residue 91
NM_001308142.2(MRTFB):c.310C>A (p.Arg104=)Pathogenic
MRTFB-related disorder
β˜†β˜†β˜†β˜†2024β†’ Residue 104
NM_001308142.2(MRTFB):c.310C>G (p.Arg104Gly)Pathogenic
MRTFB-related disorder
β˜†β˜†β˜†β˜†β†’ Residue 104
View on ClinVar β†—
Related Genes
SRFProtein interaction98%ACTA1Protein interaction94%PHACTR1Protein interaction94%RHOAProtein interaction78%RBM15Protein interaction75%POU2F1Shared pathway50%
Tissue Expression6 tissues
Brain
100%
Heart
46%
Lung
41%
Ovary
29%
Liver
22%
Bone Marrow
22%
Gene Interaction Network
Click a node to explore
MRTFBSRFACTA1PHACTR1RHOARBM15POU2F1
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q9ULH7
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
0.35Moderately Constrained
pLIβ“˜
1.00Intolerant
Observed/Expected LoF0.25 [0.18–0.35]
RankingsWhere MRTFB stands among ~20K protein-coding genes
  • #5,257of 20,598
    Most Researched91
  • #4,000of 5,498
    Most Pathogenic Variants3
  • #1,544of 17,882
    Most Constrained (LOEUF)0.35 Β· top 10%
Genes detectedMRTFB
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
MICAL2 Promotes Pancreatic Cancer Growth and Metastasis.
PMID: 39745352
Cancer Res Β· 2025
1.00
2
[Neuronal Plasticity-related Mechanisms Triggered by the Transcriptional Coactivator MRTFB, a Regulator for Neuronal Morphology and Gene Expression].
PMID: 41320266
Yakugaku Zasshi Β· 2025
0.90
3
HIV-1 latency: From acquaintance to confidant.
PMID: 40497153
J Virus Erad Β· 2025
0.80
4
Novel CRTC1::MRTFB(MKL2) Gene Fusion Detected in Myxoid Mesenchymal Neoplasms With Myogenic Differentiation Involving Bone and Soft Tissues.
PMID: 38763420
Mod Pathol Β· 2024
0.70
5
RNA-sequencing of myxoinflammatory fibroblastic sarcomas reveals a novel SND1::BRAF fusion and 3 different molecular aberrations with the potential to upregulate the TEAD1 gene including SEC23IP::VGLL3 and TEAD1::MRTFB gene fusions.
PMID: 35776191
Virchows Arch Β· 2022
0.60