MYH11 (myosin heavy chain) (incomplete)

1999-06-01   Jean-Loup Huret  

Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France

Identity

HGNC
MYH11
LOCATION
16p13.11
IMAGE
Atlas Image
LEGEND
MYH11 (myosin heavy chain) (incomplete) Hybridization with XL CBFB/MYH11 probe (Metasystems, Germany) showing the orange labeled probe hybridizing to CBFB, and a green labeled probe hybridizing to the smooth muscle myosin heavy chain gene (MYH11) on 16p13.11 - Courtesy Adriana Zamecnikova.
LOCUSID
4629
ALIAS
AAT4,FAA4,SMHC,SMMHC,VSCM2
FUSION GENES
Show Gene Fusions

DNA/RNA

Atlas Image
c-MYH11 (16p13) in normal cells: PAC 114C15 (top) and PAC 893C15 (below) - Courtesy Mariano Rocchi, Resources for Molecular Cytogenetics.

Transcription

alternate splicing in 3

Proteins

Description

the proteins name is MYST; 214 KDa, 1857 amino acids known; N-term ATPase globular domain responsible for actin binding and mechanical movement, and a C-term long repeat of coil-coil domain to facilitate filament aggregates; forms hetero-hexameres

Expression

smooth muscle

Function

muscle contraction

Homology

member of the myosin II family

Implicated in

Entity name
inv(16)(p13q22), t(16;16)(p13;q22), and del(16)(q22) in acute non lymphoblastic leukaemia (AML) or myelodysplastic syndromes (MDS) --> CBFB - MYH11
Disease
nearly pathognomonic of M4eo-AML: with eosinophilia; frequent CNS involvement
Prognosis
high CR rate; better prognosis than most other AML
Cytogenetics
the 3 chromosome anomalies are variants of each other
Hybrid gene
5 CBFb - 3 MYH11
Fusion protein
the N-trem and most of CBFb is fused to the MYH11 C-term with its multimerization domain

Article Bibliography

Pubmed IDLast YearTitleAuthors
83389411993Identification of yeast artificial chromosomes containing the inversion 16 p-arm breakpoint associated with acute myelomonocytic leukemia.Liu P et al
82191851993A gene for a myosin peptide is disrupted by the inv(16)(p13q22) in acute nonlymphocytic leukemia M4Eo.van der Reijden BA et al

Other Information

Locus ID:

NCBI: 4629
MIM: 160745
HGNC: 7569
Ensembl: ENSG00000133392

Variants:

dbSNP: 4629
ClinVar: 4629
TCGA: ENSG00000133392
COSMIC: MYH11

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000133392ENST00000300036P35749
ENSG00000133392ENST00000300036A0A024QZJ4
ENSG00000133392ENST00000396324P35749
ENSG00000133392ENST00000452625P35749
ENSG00000133392ENST00000576790P35749
ENSG00000133392ENST00000576790A0A024QZJ6
ENSG00000133392ENST00000652121A0A494C024

Expression (GTEx)

0
1000
2000
3000
4000
5000
6000
7000
8000
9000
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Tight junctionKEGGko04530
Tight junctionKEGGhsa04530
Vascular smooth muscle contractionKEGGhsa04270
Vascular smooth muscle contractionKEGGko04270
Signal TransductionREACTOMER-HSA-162582
Signaling by Rho GTPasesREACTOMER-HSA-194315
RHO GTPase EffectorsREACTOMER-HSA-195258
RHO GTPases Activate ROCKsREACTOMER-HSA-5627117
RHO GTPases activate PAKsREACTOMER-HSA-5627123
RHO GTPases activate PKNsREACTOMER-HSA-5625740
RHO GTPases activate CITREACTOMER-HSA-5625900
Muscle contractionREACTOMER-HSA-397014
Smooth Muscle ContractionREACTOMER-HSA-445355
Developmental BiologyREACTOMER-HSA-1266738
Axon guidanceREACTOMER-HSA-422475
Semaphorin interactionsREACTOMER-HSA-373755
Sema4D in semaphorin signalingREACTOMER-HSA-400685
Sema4D induced cell migration and growth-cone collapseREACTOMER-HSA-416572
EPH-Ephrin signalingREACTOMER-HSA-2682334
EPHA-mediated growth cone collapseREACTOMER-HSA-3928663

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA161907438Thoracic Aortic Aneurysms and Dissections (TAAD)DiseaseDataAnnotationassociated
PA166123310loeys-dietz syndromeDiseaseDataAnnotationassociated
PA24456ACTA2GeneDataAnnotationassociated
PA28016FBN1GeneDataAnnotationassociated
PA30526SMAD3GeneDataAnnotationassociated
PA31388MYLKGeneDataAnnotationassociated
PA36485TGFBR1GeneDataAnnotationassociated
PA36486TGFBR2GeneDataAnnotationassociated
PA444880Marfan SyndromeDiseaseDataAnnotationassociated

References

Pubmed IDYearTitleCitations
373068882024A harmful MYH11 variant detected in a family with thoracic aortic dissection and patent ductus arteriosus.1
386255902024Genome-wide analysis identifies MYH11 compound heterozygous variants leading to visceral myopathy corresponding to late-onset form of megacystis-microcolon-intestinal hypoperistalsis syndrome.0
387734662024Complex genotype-phenotype correlation of MYH11: new insights from monozygotic twins with highly variable expressivity and outcomes.0
373068882024A harmful MYH11 variant detected in a family with thoracic aortic dissection and patent ductus arteriosus.1
386255902024Genome-wide analysis identifies MYH11 compound heterozygous variants leading to visceral myopathy corresponding to late-onset form of megacystis-microcolon-intestinal hypoperistalsis syndrome.0
387734662024Complex genotype-phenotype correlation of MYH11: new insights from monozygotic twins with highly variable expressivity and outcomes.0
347296482022Association of gene polymorphisms in MYH11 and TGF-β signaling with the susceptibility and clinical outcomes of DeBakey type III aortic dissection.4
351286342022TET2 deficiency cooperates with CBFB-MYH11 to induce acute myeloid leukaemia and represents an early leukaemogenic event.2
360390182022Mutual exclusivity between the fusion gene CBFB::MYH11 and somatic mitochondrial mutations in acute myeloid leukaemia.0
364768862022[Molecular Genetic Characteristics of Acute Myeloid Leukemia Patients with CBFβ-MYH11 Positive].0
347296482022Association of gene polymorphisms in MYH11 and TGF-β signaling with the susceptibility and clinical outcomes of DeBakey type III aortic dissection.4
351286342022TET2 deficiency cooperates with CBFB-MYH11 to induce acute myeloid leukaemia and represents an early leukaemogenic event.2
360390182022Mutual exclusivity between the fusion gene CBFB::MYH11 and somatic mitochondrial mutations in acute myeloid leukaemia.0
364768862022[Molecular Genetic Characteristics of Acute Myeloid Leukemia Patients with CBFβ-MYH11 Positive].0
329666942021Non-coding variants in MYH11, FZD3, and SORCS3 are associated with dementia in women.15

Citation

Jean-Loup Huret

MYH11 (myosin heavy chain) (incomplete)

Atlas Genet Cytogenet Oncol Haematol. 1999-06-01

Online version: http://atlasgeneticsoncology.org/gene/43/myh11-(myosin-heavy-chain)-(incomplete)