MYH9 (myosin, heavy polypeptide 9, non-muscle)

2003-08-01   Jean-Loup Huret  

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

Identity

HGNC
MYH9
LOCATION
22q12.3
LOCUSID
4627
ALIAS
BDPLT6,DFNA17,EPSTS,FTNS,MATINS,MHA,NMHC-II-A,NMMHC-IIA,NMMHCA
FUSION GENES
Show Gene Fusions

DNA/RNA

Description

spans 107 kb; 40 exons

Transcription

alternate splicing; transcripts of 4.4, 5.3 and 5.9 kb

Proteins

Description

1960 amino acids; 227 kDa (and 1752 aa, 202 kDa, and 1486 aa, 172 kDa; globular head in N-term and a coiled-coil tail in C-term; actin binding site and light chains binding site are present in the globular domain. Myosin forms hexamers with 2 heavy chains, 2 essential (alkali) light chains, and 2 regulatory light chains

Expression

in platelets; upregulated during granulocyte differentiation (see below); also expressed in thymus, spleen, kidney, intestine, cochlea ....

Function

binds actin; protein of the cytoskeleton; role in cell shape and motility, and in cell division

Mutations

Germinal

in autosomal dominant giant-platelet disorders

Somatic

in non Hodgkin lymphomas

Implicated in

Disease
The autosomal dominant giant-platelet disorders, May-Hegglin anomaly (MHA), Fechtner syndrome (FTNS), and Sebastian syndrome (SBS), which share a triad of thrombocytopenia, large platelets (macrothrombocytopenia (MTCP)) and characteristic leukocyte inclusions (Dohle-like bodies), Epstein syndrome, which associates additional Alport-like clinical features (inherited sensorineural deafness, cataracts, nephritis), and MTCP without leukocyte inclusions, as well as a nonsyndromic hereditary hearing impairment are all caused by (germinal) mutations in MYH9. These disorders appear to represent a class of allelic disorders with variable phenotypic diversity. No clear no genotype-phenotype correlation was identified
Entity name
Anaplasic large cell lymphoma (ALCL) with t(2;22)(p23;q12) --> ALK- CLTC
Disease
ALCL are high grade non Hodgkin lymphomas; ALK+ ALCL are ALCL where ALK is involved in a fusion gene; ALK+ ALCL represent 50 to 60 % of ALCL cases (they are CD30+, ALK+;); belong to the "cytoplasmic ALK+" subset.
Prognosis
Althouth presenting as a high grade tumour, a 80% five yr survival is associated with this anomaly
Hybrid gene
5 MYH9 - 3 ALK
Fusion protein
NH2 MYH9 - COOH ALK

Article Bibliography

Pubmed IDLast YearTitleAuthors
109732602000Mutation of MYH9, encoding non-muscle myosin heavy chain A, in May-Hegglin anomaly.Kelley MJ et al
117763862001Identification of six novel MYH9 mutations and genotype-phenotype relationships in autosomal dominant macrothrombocytopenia with leukocyte inclusions.Kunishima S et al
110238102000Human nonsyndromic hereditary deafness DFNA17 is due to a mutation in nonmuscle myosin MYH9.Lalwani AK et al
128001562003Non-muscle myosin heavy chain (MYH9): a new partner fused to ALK in anaplastic large cell lymphoma.Lamant L et al
122177982002Five (un)easy pieces: the MYH9-related giant platelet syndromes.Martignetti J et al
109732592000Mutations in MYH9 result in the May-Hegglin anomaly, and Fechtner and Sebastian syndromes. The May-Heggllin/Fechtner Syndrome Consortium.Seri M et al
127923062003MYH9-related disease: May-Hegglin anomaly, Sebastian syndrome, Fechtner syndrome, and Epstein syndrome are not distinct entities but represent a variable expression of a single illness.Seri M et al

Other Information

Locus ID:

NCBI: 4627
MIM: 160775
HGNC: 7579
Ensembl: ENSG00000100345

Variants:

dbSNP: 4627
ClinVar: 4627
TCGA: ENSG00000100345
COSMIC: MYH9

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000100345ENST00000216181P35579
ENSG00000100345ENST00000216181A0A024R1N1
ENSG00000100345ENST00000401701Q5BKV1
ENSG00000100345ENST00000456729B1AH99

Expression (GTEx)

0
500
1000
1500
2000
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
Regulation of actin cytoskeletonKEGGko04810
Tight junctionKEGGhsa04530
Regulation of actin cytoskeletonKEGGhsa04810
Salmonella infectionKEGGko05132
Salmonella infectionKEGGhsa05132
Immune SystemREACTOMER-HSA-168256
Innate Immune SystemREACTOMER-HSA-168249
Fcgamma receptor (FCGR) dependent phagocytosisREACTOMER-HSA-2029480
Regulation of actin dynamics for phagocytic cup formationREACTOMER-HSA-2029482
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
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
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

References

Pubmed IDYearTitleCitations
375946412024The Potential Impact of MYH9 (rs3752462) and ELMO1 (rs741301) Genetic Variants on the Risk of Nephrotic Syndrome Incidence.0
380424902024Effects of specific disease mutations in non-muscle myosin 2A on its structure and function.0
381037352024Aggregates of nonmuscular myosin IIA in erythrocytes associate with GATA1- and GFI1B-related thrombocytopenia.0
381817162024MYH9: A key protein involved in tumor progression and virus-related diseases.0
385043742024TMEM120B strengthens breast cancer cell stemness and accelerates chemotherapy resistance via β1-integrin/FAK-TAZ-mTOR signaling axis by binding to MYH9.0
385171062024Spindle cell neoplasms with novel LTK fusion - Expanding the spectrum of kinase fusion-positive soft tissue tumors.0
375946412024The Potential Impact of MYH9 (rs3752462) and ELMO1 (rs741301) Genetic Variants on the Risk of Nephrotic Syndrome Incidence.0
380424902024Effects of specific disease mutations in non-muscle myosin 2A on its structure and function.0
381037352024Aggregates of nonmuscular myosin IIA in erythrocytes associate with GATA1- and GFI1B-related thrombocytopenia.0
381817162024MYH9: A key protein involved in tumor progression and virus-related diseases.0
385043742024TMEM120B strengthens breast cancer cell stemness and accelerates chemotherapy resistance via β1-integrin/FAK-TAZ-mTOR signaling axis by binding to MYH9.0
385171062024Spindle cell neoplasms with novel LTK fusion - Expanding the spectrum of kinase fusion-positive soft tissue tumors.0
365093862023Nonmuscle myosin IIA promotes the internalization of influenza A virus and regulates viral polymerase activity through interacting with nucleoprotein in human pulmonary cells.1
367570502023SAMD9 Promotes Postoperative Recurrence of Esophageal Squamous Cell Carcinoma by Stimulating MYH9-Mediated GSK3β/β-Catenin Signaling.8
369296332023MYH10 Combines with MYH9 to Recruit USP45 by Deubiquitinating Snail and Promotes Serous Ovarian Cancer Carcinogenesis, Progression, and Cisplatin Resistance.5

Citation

Jean-Loup Huret

MYH9 (myosin, heavy polypeptide 9, non-muscle)

Atlas Genet Cytogenet Oncol Haematol. 2003-08-01

Online version: http://atlasgeneticsoncology.org/gene/481/myh9-(myosin-heavy-polypeptide-9-non-muscle)