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Aliases for MYH11 Gene

Aliases for MYH11 Gene

  • Myosin Heavy Chain 11 2 3 4 5
  • Myosin, Heavy Polypeptide 11, Smooth Muscle 2 3
  • Myosin Heavy Chain, Smooth Muscle Isoform 3 4
  • SMMHC 3 4
  • Myosin, Heavy Chain 11, Smooth Muscle 3
  • Myosin-11 3
  • KIAA0866 4
  • AAT4 3
  • FAA4 3
  • SMHC 3

External Ids for MYH11 Gene

Previous GeneCards Identifiers for MYH11 Gene

  • GC16M015624
  • GC16M015079
  • GC16M015724
  • GC16M015763
  • GC16M015190

Summaries for MYH11 Gene

Entrez Gene Summary for MYH11 Gene

  • The protein encoded by this gene is a smooth muscle myosin belonging to the myosin heavy chain family. The gene product is a subunit of a hexameric protein that consists of two heavy chain subunits and two pairs of non-identical light chain subunits. It functions as a major contractile protein, converting chemical energy into mechanical energy through the hydrolysis of ATP. The gene encoding a human ortholog of rat NUDE1 is transcribed from the reverse strand of this gene, and its 3' end overlaps with that of the latter. The pericentric inversion of chromosome 16 [inv(16)(p13q22)] produces a chimeric transcript that encodes a protein consisting of the first 165 residues from the N terminus of core-binding factor beta in a fusion with the C-terminal portion of the smooth muscle myosin heavy chain. This chromosomal rearrangement is associated with acute myeloid leukemia of the M4Eo subtype. Alternative splicing generates isoforms that are differentially expressed, with ratios changing during muscle cell maturation. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]

GeneCards Summary for MYH11 Gene

MYH11 (Myosin Heavy Chain 11) is a Protein Coding gene. Diseases associated with MYH11 include Aortic Aneurysm, Familial Thoracic 4 and Acute Myeloid Leukemia With Abnormal Bone Marrow Eosinophils Inv(16)(P13q22) Or T(16;16)(P13;Q22). Among its related pathways are ERK Signaling and Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases. Gene Ontology (GO) annotations related to this gene include calmodulin binding and motor activity. An important paralog of this gene is MYH9.

UniProtKB/Swiss-Prot for MYH11 Gene

  • Muscle contraction.

Tocris Summary for MYH11 Gene

  • Myosins are a large family of motor proteins that share the common features of ATP hydrolysis (ATPase enzyme activity), actin binding and potential for kinetic energy transduction. Originally isolated from muscle cells, almost all eukaryotic cells are known to contain myosins.

Gene Wiki entry for MYH11 Gene

Additional gene information for MYH11 Gene

No data available for CIViC summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MYH11 Gene

Genomics for MYH11 Gene

GeneHancer (GH) Regulatory Elements for MYH11 Gene

Promoters and enhancers for MYH11 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH16J015884 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE 650.3 -30.1 -30063 4.8 HDGF PKNOX1 ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 POLR2B ZNF766 FOPNL MYH11 NDE1 ENSG00000262171
GH16J015857 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE dbSUPER 662.6 -1.1 -1149 1.8 SUZ12 SIN3A ZNF2 ZNF48 ZNF335 ZNF366 PATZ1 ZNF143 ATF7 ZNF444 MYH11 ABCC1 FOPNL RNU6-213P
GH16J015858 Promoter/Enhancer 0.9 EPDnew dbSUPER 650.7 0.0 -14 0.1 SUZ12 HDAC2 EZH2 MYH11 RNU6-213P
GH16J015725 Promoter/Enhancer 0.7 EPDnew dbSUPER 650.1 +131.8 131843 0.1 GC16P015726 PIR55729 ENSG00000263335 MYH11 GC16P015721 NDE1
GH16J015897 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE dbSUPER 11.4 -42.6 -42576 4.5 HDGF PKNOX1 FOXA2 MLX SIN3A IRF4 SLC30A9 FOS DEK ZNF263 FOPNL ABCC1 ENSG00000262171 RNU6-213P MYH11 LOC100505915 ENSG00000263065 GC16M015891 RPL15P20
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around MYH11 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the MYH11 gene promoter:
  • Ik-2
  • HFH-3
  • FOXI1
  • GR-beta
  • GR-alpha
  • GR
  • C/EBPalpha

Genomic Locations for MYH11 Gene

Genomic Locations for MYH11 Gene
153,899 bases
Minus strand
153,899 bases
Minus strand

Genomic View for MYH11 Gene

Genes around MYH11 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MYH11 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MYH11 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MYH11 Gene

Proteins for MYH11 Gene

  • Protein details for MYH11 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Protein Accession:
    Secondary Accessions:
    • D2JYH7
    • O00396
    • O94944
    • P78422
    • Q3MIV8
    • Q3MNF0
    • Q3MNF1

    Protein attributes for MYH11 Gene

    1972 amino acids
    Molecular mass:
    227339 Da
    Quaternary structure:
    • Muscle myosin is a hexameric protein that consists of 2 heavy chain subunits (MHC), 2 alkali light chain subunits (MLC) and 2 regulatory light chain subunits (MLC-2).
    • Sequence=BAA74889.2; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for MYH11 Gene


neXtProt entry for MYH11 Gene

Post-translational modifications for MYH11 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for MYH11 Gene

Domains & Families for MYH11 Gene

Gene Families for MYH11 Gene

Human Protein Atlas (HPA):
  • Cancer-related genes
  • Candidate cardiovascular disease genes
  • Disease related genes
  • Plasma proteins
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for MYH11 Gene

Graphical View of Domain Structure for InterPro Entry



  • The rodlike tail sequence is highly repetitive, showing cycles of a 28-residue repeat pattern composed of 4 heptapeptides, characteristic for alpha-helical coiled coils.
  • Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Myosin family.
  • The rodlike tail sequence is highly repetitive, showing cycles of a 28-residue repeat pattern composed of 4 heptapeptides, characteristic for alpha-helical coiled coils.
  • Limited proteolysis of myosin heavy chain produces 1 light meromyosin (LMM) and 1 heavy meromyosin (HMM). HMM can be further cleaved into 2 globular subfragments (S1) and 1 rod-shaped subfragment (S2).
  • Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Myosin family.
genes like me logo Genes that share domains with MYH11: view

Function for MYH11 Gene

Molecular function for MYH11 Gene

UniProtKB/Swiss-Prot Function:
Muscle contraction.
GENATLAS Biochemistry:
myosin,motor contractile protein moving towards the "plus" end of actin track,heavy polypeptide 11,smooth muscle,altered in acute myeloid leukemia (AML-M4Eo) with inversion inv(16)(p13-q22),forming chimeric protein with CBFB

Phenotypes From GWAS Catalog for MYH11 Gene

Gene Ontology (GO) - Molecular Function for MYH11 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003774 motor activity IEA --
GO:0003777 microtubule motor activity IEA --
GO:0003779 actin binding IEA --
GO:0005515 protein binding IPI 19328794
GO:0005516 calmodulin binding IEA --
genes like me logo Genes that share ontologies with MYH11: view
genes like me logo Genes that share phenotypes with MYH11: view

Human Phenotype Ontology for MYH11 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for MYH11 Gene

MGI Knock Outs for MYH11:

Animal Model Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for MYH11 Gene

Localization for MYH11 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MYH11 Gene

Melanosome. Note=Identified by mass spectrometry in melanosome fractions from stage I to stage IV. Thick filaments of the myofibrils.

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for MYH11 gene
Compartment Confidence
extracellular 5
cytoskeleton 5
cytosol 5
nucleus 3
plasma membrane 2
mitochondrion 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Plasma membrane (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for MYH11 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005829 cytosol TAS --
GO:0005859 muscle myosin complex TAS 7684189
GO:0016459 myosin complex IEA --
GO:0032982 myosin filament IEA --
GO:0042470 melanosome IEA --
genes like me logo Genes that share ontologies with MYH11: view

Pathways & Interactions for MYH11 Gene

genes like me logo Genes that share pathways with MYH11: view

Gene Ontology (GO) - Biological Process for MYH11 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006936 muscle contraction TAS --
GO:0006939 smooth muscle contraction ISS --
GO:0007018 microtubule-based movement IEA --
GO:0030241 skeletal muscle myosin thick filament assembly ISS --
GO:0048251 elastic fiber assembly IMP 16444274
genes like me logo Genes that share ontologies with MYH11: view

No data available for SIGNOR curated interactions for MYH11 Gene

Drugs & Compounds for MYH11 Gene

(8) Drugs for MYH11 Gene - From: DrugBank, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Tetrafluoroaluminate Ion Experimental Pharma Target 0
(R)-(+)-Blebbistatin Pharma non-muscle myosin II ATPases inhibitor, cell-permeable, Selective inhibitor of myosin II ATPase activity. Inactive enantiomer of (+-)-blebbistatin (Cat. No. 1760) 0
BTS Pharma Selective inhibitor of skeletal muscle myosin II ATPase activity 0

(9) Additional Compounds for MYH11 Gene - From: Novoseek and Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs

(4) Tocris Compounds for MYH11 Gene

Compound Action Cas Number
(+-)-Blebbistatin Selective inhibitor of myosin II ATPase activity 674289-55-5
(R)-(+)-Blebbistatin Selective inhibitor of myosin II ATPase activity. Inactive enantiomer of (+-)-blebbistatin (Cat. No. 1760) 1177356-70-5
(S)-(-)-Blebbistatin Selective inhibitor of myosin II ATPase activity. Active enantiomer of (+-)-blebbistatin (Cat. No. 1760) 856925-71-8
BTS Selective inhibitor of skeletal muscle myosin II ATPase activity 1576-37-0
genes like me logo Genes that share compounds with MYH11: view

Transcripts for MYH11 Gene

mRNA/cDNA for MYH11 Gene

(6) REFSEQ mRNAs :
(22) Additional mRNA sequences :
(8) Selected AceView cDNA sequences:
(11) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for MYH11 Gene

Myosin, heavy chain 11, smooth muscle:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for MYH11 Gene

ExUns: 1 ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13a · 13b ^ 14a · 14b ^ 15 ^ 16a · 16b · 16c ^ 17 ^ 18 ^ 19a · 19b ^ 20a ·
SP1: -
SP2: -
SP4: -
SP11: -
SP12: -

ExUns: 20b ^ 21a · 21b ^ 22a · 22b · 22c ^ 23a · 23b ^ 24 ^ 25a · 25b ^ 26a · 26b ^ 27 ^ 28a · 28b · 28c ^ 29
SP3: -
SP5: -
SP6: -
SP13: -

Relevant External Links for MYH11 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for MYH11 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for MYH11 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for MYH11 Gene

This gene is overexpressed in Esophagus - Muscularis (x8.8), Esophagus - Gastroesophageal Junction (x6.7), Colon - Sigmoid (x6.5), Artery - Tibial (x5.8), and Bladder (x4.8).

Protein differential expression in normal tissues from HIPED for MYH11 Gene

This gene is overexpressed in Colon muscle (22.7), Urinary Bladder (16.0), Cardia (7.2), and Rectum (6.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for MYH11 Gene

Protein tissue co-expression partners for MYH11 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of MYH11 Gene:


SOURCE GeneReport for Unigene cluster for MYH11 Gene:


mRNA Expression by UniProt/SwissProt for MYH11 Gene:

Tissue specificity: Smooth muscle; expressed in the umbilical artery, bladder, esophagus and trachea. Isoform 1 is mostly found in slowly contracting tonic muscles.

Evidence on tissue expression from TISSUES for MYH11 Gene

  • Intestine(5)
  • Nervous system(4.6)
  • Liver(4.5)
  • Muscle(4.1)
  • Lung(3.9)
  • Stomach(3.5)
  • Eye(3.1)
  • Heart(3)
  • Pancreas(2.5)
  • Blood(2.4)
  • Gall bladder(2.3)
  • Bone marrow(2.2)
  • Spleen(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for MYH11 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
  • cardiovascular
  • digestive
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Head and neck:
  • brain
  • chin
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • head
  • jaw
  • mandible
  • maxilla
  • meninges
  • mouth
  • pharynx
  • skull
  • aorta
  • chest wall
  • esophagus
  • heart
  • heart valve
  • lung
  • rib
  • rib cage
  • sternum
  • abdominal wall
  • biliary tract
  • duodenum
  • intestine
  • kidney
  • large intestine
  • liver
  • pancreas
  • small intestine
  • stomach
  • pelvis
  • placenta
  • ureter
  • urinary bladder
  • uterus
  • ankle
  • digit
  • elbow
  • finger
  • foot
  • hand
  • hip
  • knee
  • lower limb
  • shoulder
  • toe
  • upper limb
  • wrist
  • blood
  • blood vessel
  • peripheral nervous system
  • skin
  • spinal column
  • vertebrae
genes like me logo Genes that share expression patterns with MYH11: view

Orthologs for MYH11 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for MYH11 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia MYH11 34
  • 100 (a)
LOC453949 33
  • 99.29 (n)
(Monodelphis domestica)
Mammalia MYH11 34
  • 96 (a)
(Ornithorhynchus anatinus)
Mammalia MYH11 34
  • 94 (a)
(Canis familiaris)
Mammalia MYH11 34 33
  • 91.68 (n)
(Bos Taurus)
Mammalia MYH11 34 33
  • 91.53 (n)
(Mus musculus)
Mammalia Myh11 16 34 33
  • 88.12 (n)
(Rattus norvegicus)
Mammalia Myh11 33
  • 87.54 (n)
(Gallus gallus)
Aves MYH11 34 33
  • 78.17 (n)
(Anolis carolinensis)
Reptilia MYH11 34
  • 84 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100490639 33
  • 74.59 (n)
(Danio rerio)
Actinopterygii myh11a 34 33
  • 74.54 (n)
myh11b 34
  • 69 (a)
fruit fly
(Drosophila melanogaster)
Insecta zip 34 35
  • 58 (a)
(Caenorhabditis elegans)
Secernentea nmy-1 34 35
  • 50 (a)
nmy-2 34
  • 44 (a)
F45G2.2 35
  • 40 (a)
hum-9 34
  • 31 (a)
Y11D7A.14 35
  • 28 (a)
C02F12.7 35
  • 22 (a)
hcp-2 35
  • 21 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes MYO1 34
  • 28 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.4398 34
  • 37 (a)
Cin.14898 33
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.14898 33
Species where no ortholog for MYH11 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for MYH11 Gene

Gene Tree for MYH11 (if available)
Gene Tree for MYH11 (if available)
Evolutionary constrained regions (ECRs) for MYH11: view image

Paralogs for MYH11 Gene

Paralogs for MYH11 Gene

(40) SIMAP similar genes for MYH11 Gene using alignment to 4 proteins:

  • B1PS43_HUMAN
  • Q4G140_HUMAN
  • Q66K75_HUMAN
genes like me logo Genes that share paralogs with MYH11: view

Variants for MYH11 Gene

Sequence variations from dbSNP and Humsavar for MYH11 Gene

SNP ID Clin Chr 16 pos Variation AA Info Type
rs1006269156 uncertain-significance, Aortic aneurysm, familial thoracic 4 15,726,952(-) G/A coding_sequence_variant, missense_variant
rs1028181943 uncertain-significance, Lissencephaly, Recessive 15,725,639(-) C/T intron_variant
rs1029371842 uncertain-significance, Aortic aneurysm, familial thoracic 4 15,718,395(-) C/T coding_sequence_variant, missense_variant
rs1033302963 uncertain-significance, Lissencephaly, Recessive, Thoracic aortic aneurysm and aortic dissection 15,703,187(-) G/A 3_prime_UTR_variant, genic_downstream_transcript_variant
rs1046382297 likely-benign, not specified, Aortic aneurysm, familial thoracic 4 15,782,378(-) T/C intron_variant

Structural Variations from Database of Genomic Variants (DGV) for MYH11 Gene

Variant ID Type Subtype PubMed ID
dgv4924n54 CNV gain 21841781
dgv4925n54 CNV loss 21841781
dgv796e212 CNV loss 25503493
esv1484275 CNV deletion 17803354
esv1985052 CNV deletion 18987734
esv22836 CNV gain 19812545
esv2714015 CNV deletion 23290073
esv2714017 CNV deletion 23290073
esv2714019 CNV deletion 23290073
esv2714020 CNV deletion 23290073
esv2714021 CNV deletion 23290073
esv3582042 CNV loss 25503493
esv3582043 CNV loss 25503493
esv3638041 CNV gain 21293372
esv995232 CNV deletion 20482838
nsv1047898 CNV loss 25217958
nsv1049647 CNV gain+loss 25217958
nsv1113759 CNV deletion 24896259
nsv1113760 CNV deletion 24896259
nsv1125134 CNV deletion 24896259
nsv1742 CNV insertion 18451855
nsv435664 CNV deletion 17901297
nsv457428 CNV gain 19166990
nsv469626 CNV loss 16826518
nsv471085 CNV gain 18288195
nsv477359 CNV novel sequence insertion 20440878
nsv833149 CNV loss 17160897
nsv9361 CNV gain 18304495

Variation tolerance for MYH11 Gene

Residual Variation Intolerance Score: 2.34% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 8.30; 85.22% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for MYH11 Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MYH11 Gene

Disorders for MYH11 Gene

MalaCards: The human disease database

(24) MalaCards diseases for MYH11 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search MYH11 in MalaCards View complete list of genes associated with diseases


  • Note=A chromosomal aberration involving MYH11 is found in acute myeloid leukemia of M4EO subtype. Pericentric inversion inv(16)(p13;q22). The inversion produces a fusion protein consisting of the 165 N-terminal residues of CBF-beta (PEPB2) and the tail region of MYH11.
  • Aortic aneurysm, familial thoracic 4 (AAT4) [MIM:132900]: A disease characterized by permanent dilation of the thoracic aorta usually due to degenerative changes in the aortic wall. It is primarily associated with a characteristic histologic appearance known as medial necrosis or Erdheim cystic medial necrosis in which there is degeneration and fragmentation of elastic fibers, loss of smooth muscle cells, and an accumulation of basophilic ground substance. {ECO:0000269 PubMed:16444274}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for MYH11

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with MYH11: view

No data available for Genatlas for MYH11 Gene

Publications for MYH11 Gene

  1. Human smooth muscle myosin heavy chain gene mapped to chromosomal region 16q12. (PMID: 7684189) Matsuoka R … Takao A (American journal of medical genetics 1993) 2 3 4 22 58
  2. Somatic mutation analysis of MYH11 in breast and prostate cancer. (PMID: 18796164) Alhopuro P … Aaltonen LA (BMC cancer 2008) 3 22 44 58
  3. Investigation of the MYH11 gene in sporadic patients with an isolated persistently patent arterial duct. (PMID: 17956658) Zhu L … Jeunemaitre X (Cardiology in the young 2007) 3 22 44 58
  4. Mutations in myosin heavy chain 11 cause a syndrome associating thoracic aortic aneurysm/aortic dissection and patent ductus arteriosus. (PMID: 16444274) Zhu L … Jeunemaitre X (Nature genetics 2006) 3 4 22 58
  5. Unregulated smooth-muscle myosin in human intestinal neoplasia. (PMID: 18391202) Alhopuro P … Aaltonen LA (Proceedings of the National Academy of Sciences of the United States of America 2008) 3 22 58

Products for MYH11 Gene

Sources for MYH11 Gene

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