Overview

Location [1]
16p13.11
Protein [2]
Myosin-11
Synonyms [1]
FAA4, AAT4, SMMHC, SMHC

Myosin, heavy chain 11, smooth muscle (MYH11) is a gene that encodes a protein that functions as a smooth muscle myosin - a major contractile protein that converts chemical energy to mechanical energy via ATP hydrolysis. Fusions, missense mutations, nonsense mutations, silent mutations, frameshift deletions and insertions, and in-frame deletions are observed in cancers such as endometrial cancer, intestinal cancer, and skin cancer.

MYH11 is altered in 0.28% of all cancers with high grade ovarian serous adenocarcinoma, endometrial endometrioid adenocarcinoma, colon adenocarcinoma, lung adenocarcinoma, and prostate adenocarcinoma having the greatest prevalence of alterations [3].

MYH11 GENIE Cases - Top Diseases

The most common alterations in MYH11 are MYH11 Fusion (0.03%), MYH11 G1238R (0.43%), MYH11 T1911M (0.70%), MYH11-CBFB Fusion (0.03%), and MYH11 A1076V (0.22%) [3].

MYH11 GENIE Cases - Top Alterations

Significance of MYH11 in Diseases

Acute Myeloid Leukemia +

Myelodysplastic Syndromes +

Acute Lymphoblastic Leukemia +

Chronic Myeloid Leukemia +

Chronic Lymphocytic Leukemia +

Hodgkin Lymphoma +

Multiple Myeloma +

Non-Hodgkin Lymphoma +

Acute Biphenotypic Leukemia +

Chronic Myelomonocytic Leukemia +

Myeloproliferative Neoplasm +

Refractory Anemia With Excess Blasts +

Acute Promyelocytic Leukemia +

Double-Hit Lymphoma +

Myelodysplastic/Myeloproliferative Neoplasm +

Small Lymphocytic Lymphoma +

Acute Leukemia +

Chronic Lymphocytic Leukemia/Small Lymphocytic Lymphoma +

Acute Myeloid Leukemia With Inv(16)(P13.1q22) Or t(16;16)(P13.1;Q22); CBFB-MYH11 +

Core Binding Factor Acute Myeloid Leukemia +

Acute Myeloid Leukemia With t(8;21); (Q22; Q22.1); RUNX1-RUNX1T1 +

Adult T-Cell Leukemia/Lymphoma +

Anaplastic Large Cell Lymphoma +

Aplastic Anemia +

Atypical Chronic Myeloid Leukemia, BCR-ABL1 Negative +

B-Cell Non-Hodgkin Lymphoma +

Burkitt Lymphoma +

Diffuse Large B-Cell Lymphoma +

Follicular Lymphoma +

Juvenile Myelomonocytic Leukemia +

Lymphoblastic Lymphoma +

Lymphoma +

Lymphoplasmacytic Lymphoma +

Mantle Cell Lymphoma +

Marginal Zone Lymphoma +

Mature B-Cell Lymphoma/Leukemia +

Mature T-Cell And NK-Cell Lymphoma/Leukemia +

Mediastinal Large B-Cell Lymphoma +

Myelodysplastic Syndrome With Excess Blasts-2 +

Myelofibrosis +

Prolymphocytic Leukemia +

Refractory Anemia +

Secondary Acute Myeloid Leukemia +

Small Lymphocytic Leukemia +

Therapy-Related Chronic Myelomonocytic Leukemia +

Therapy-Related Myelodysplastic Syndrome +

References

1. Hart R and Prlic A. Universal Transcript Archive Repository. Version uta_20180821. San Francisco CA: Github;2015. https://github.com/biocommons/uta

2. The UniProt Consortium. UniProt: a worldwide hub of protein knowledge. Nucleic Acids Research. 2019;47:D506-D515.

3. The AACR Project GENIE Consortium. AACR Project GENIE: powering precision medicine through an international consortium. Cancer Discovery. 2017;7(8):818-831. Dataset Version 8. This dataset does not represent the totality of the genetic landscape; see paper for more information.

4. All assertions and clinical trial landscape data are curated from primary sources. You can read more about the curation process here.