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Aliases for MYH9 Gene

Aliases for MYH9 Gene

  • Myosin, Heavy Chain 9, Non-Muscle 2 3 5
  • Cellular Myosin Heavy Chain, Type A 3 4
  • Nonmuscle Myosin Heavy Chain II-A 2 3
  • Non-Muscle Myosin Heavy Chain IIa 3 4
  • Non-Muscle Myosin Heavy Chain A 3 4
  • NMMHC-IIA 3 4
  • Myosin, Heavy Polypeptide 9, Non-Muscle 2
  • Non-Muscle Myosin Heavy Polypeptide 9 3
  • Myosin Heavy Chain, Non-Muscle IIa 4
  • Non-Muscle Myosin Heavy Chain 9 3
  • Myosin Heavy Chain 9 4
  • NMMHC II-A 4
  • NMHC-II-A 3
  • NMMHC-A 4
  • BDPLT6 3
  • NMMHCA 3
  • DFNA17 3
  • EPSTS 3
  • FTNS 3
  • MHA 3

External Ids for MYH9 Gene

Previous HGNC Symbols for MYH9 Gene

  • DFNA17

Previous GeneCards Identifiers for MYH9 Gene

  • GC22M033322
  • GC22M034949
  • GC22M035001
  • GC22M036677
  • GC22M019645

Summaries for MYH9 Gene

Entrez Gene Summary for MYH9 Gene

  • This gene encodes a conventional non-muscle myosin; this protein should not be confused with the unconventional myosin-9a or 9b (MYO9A or MYO9B). The encoded protein is a myosin IIA heavy chain that contains an IQ domain and a myosin head-like domain which is involved in several important functions, including cytokinesis, cell motility and maintenance of cell shape. Defects in this gene have been associated with non-syndromic sensorineural deafness autosomal dominant type 17, Epstein syndrome, Alport syndrome with macrothrombocytopenia, Sebastian syndrome, Fechtner syndrome and macrothrombocytopenia with progressive sensorineural deafness. [provided by RefSeq, Dec 2011]

GeneCards Summary for MYH9 Gene

MYH9 (Myosin, Heavy Chain 9, Non-Muscle) is a Protein Coding gene. Diseases associated with MYH9 include Fechtner Syndrome and Sebastian Syndrome. Among its related pathways are Regulation of actin dynamics for phagocytic cup formation and ERK Signaling. GO annotations related to this gene include poly(A) RNA binding and protein homodimerization activity. An important paralog of this gene is MYH4.

UniProtKB/Swiss-Prot for MYH9 Gene

  • Cellular myosin that appears to play a role in cytokinesis, cell shape, and specialized functions such as secretion and capping. During cell spreading, plays an important role in cytoskeleton reorganization, focal contacts formation (in the margins but not the central part of spreading cells), and lamellipodial retraction; this function is mechanically antagonized by MYH10.

Tocris Summary for MYH9 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 MYH9 Gene

No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MYH9 Gene

Genomics for MYH9 Gene

Regulatory Elements for MYH9 Gene

Enhancers for MYH9 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around MYH9 on UCSC Golden Path with GeneCards custom track

Promoters for MYH9 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around MYH9 on UCSC Golden Path with GeneCards custom track

Genomic Location for MYH9 Gene

Chromosome:
22
Start:
36,281,277 bp from pter
End:
36,388,067 bp from pter
Size:
106,791 bases
Orientation:
Minus strand

Genomic View for MYH9 Gene

Genes around MYH9 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MYH9 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MYH9 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MYH9 Gene

Proteins for MYH9 Gene

  • Protein details for MYH9 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P35579-MYH9_HUMAN
    Recommended name:
    Myosin-9
    Protein Accession:
    P35579
    Secondary Accessions:
    • A8K6E4
    • O60805
    • Q60FE2
    • Q86T83

    Protein attributes for MYH9 Gene

    Size:
    1960 amino acids
    Molecular mass:
    226532 Da
    Quaternary structure:
    • Interacts with PDLIM2 (By similarity). Interacts with SLC6A4 (By similarity). 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). Interacts with RASIP1. Interacts with DDR1 (By similarity). Interacts with SVIL and HTRA3.
    SequenceCaution:
    • Sequence=CAD89954.1; Type=Frameshift; Positions=1890; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for MYH9 Gene

    Alternative splice isoforms for MYH9 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for MYH9 Gene

Proteomics data for MYH9 Gene at MOPED

Post-translational modifications for MYH9 Gene

  • ISGylated.
  • Ubiquitination at Lys 14, Lys 38, Lys 102, Lys 186, Lys 261, Lys 373, Lys 637, Lys 760, Lys 835, Lys 1234, Lys 1392, and Lys 1566
  • Modification sites at PhosphoSitePlus

Other Protein References for MYH9 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for MYH9 (MYH9)

No data available for DME Specific Peptides for MYH9 Gene

Domains & Families for MYH9 Gene

Gene Families for MYH9 Gene

Graphical View of Domain Structure for InterPro Entry

P35579

UniProtKB/Swiss-Prot:

MYH9_HUMAN :
  • 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.
Domain:
  • 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.
  • Contains 1 IQ domain.
  • Contains 1 myosin motor domain.
Family:
  • Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Myosin family.
genes like me logo Genes that share domains with MYH9: view

Function for MYH9 Gene

Molecular function for MYH9 Gene

GENATLAS Biochemistry:
myosin,motor contractile protein moving towards the "plus" end of actin track,heavy polypeptide 9,non muscle
UniProtKB/Swiss-Prot Function:
Cellular myosin that appears to play a role in cytokinesis, cell shape, and specialized functions such as secretion and capping. During cell spreading, plays an important role in cytoskeleton reorganization, focal contacts formation (in the margins but not the central part of spreading cells), and lamellipodial retraction; this function is mechanically antagonized by MYH10.

Gene Ontology (GO) - Molecular Function for MYH9 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0051015 actin filament binding IEA,NAS 16403913
genes like me logo Genes that share ontologies with MYH9: view
genes like me logo Genes that share phenotypes with MYH9: view

Human Phenotype Ontology for MYH9 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for MYH9 Gene

MGI Knock Outs for MYH9:
  • Myh9 tm3(GFP/MYH9/MYH10)Rsad
  • Myh9 tm4(GFP/MYH10/MYH9)Rsad
  • Myh9 tm2(GFP/MYH10)Rsad
  • Myh9 tm1a(EUCOMM)Wtsi
  • Myh9 tm1Maco
  • Myh9 tm1(mCherry/MYH9)Rsad
  • Myh9 tm1.2Gac
  • Myh9 tm8.1Rsad

Animal Model Products

  • Taconic Biosciences Mouse Models for MYH9

miRNA for MYH9 Gene

miRTarBase miRNAs that target MYH9

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for MYH9 Gene

Localization for MYH9 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MYH9 Gene

Cytoplasm, cytoskeleton. Cytoplasm, cell cortex. Note=Colocalizes with actin filaments at lamellipodia margins and at the leading edge of migrating cells. {ECO:0000269 PubMed:20052411}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for MYH9 Gene COMPARTMENTS Subcellular localization image for MYH9 gene
Compartment Confidence
cytoskeleton 5
cytosol 5
extracellular 5
nucleus 5
plasma membrane 5
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for MYH9 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001931 uropod IEA,IDA 15064761
GO:0005819 spindle IEA --
GO:0005913 cell-cell adherens junction IEA --
GO:0005925 colocalizes_with focal adhesion IEA,ISS --
GO:0008305 colocalizes_with integrin complex IDA 10822899
genes like me logo Genes that share ontologies with MYH9: view

Pathways & Interactions for MYH9 Gene

genes like me logo Genes that share pathways with MYH9: view

SIGNOR curated interactions for MYH9 Gene

Is activated by:

Gene Ontology (GO) - Biological Process for MYH9 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000212 meiotic spindle organization IEA --
GO:0000904 cell morphogenesis involved in differentiation IEA --
GO:0001525 angiogenesis IDA 16403913
GO:0007229 integrin-mediated signaling pathway NAS 10822899
GO:0008152 metabolic process IEA --
genes like me logo Genes that share ontologies with MYH9: view

Drugs & Compounds for MYH9 Gene

(3) Drugs for MYH9 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(6) Additional Compounds for MYH9 Gene - From: Tocris and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
(+-)-Blebbistatin
674289-55-5
(R)-(+)-Blebbistatin
1177356-70-5
(S)-(-)-Blebbistatin
856925-71-8
ML 9 hydrochloride
105637-50-1
W-7 hydrochloride
61714-27-0

(5) Tocris Compounds for MYH9 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
ML 9 hydrochloride Myosin light chain kinase inhibitor 105637-50-1
W-7 hydrochloride Calmodulin antagonist. Inhibits myosin light chain kinase 61714-27-0
genes like me logo Genes that share compounds with MYH9: view

Transcripts for MYH9 Gene

Unigene Clusters for MYH9 Gene

Myosin, heavy chain 9, non-muscle:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for MYH9 Gene

ExUns: 1a · 1b ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12a · 12b ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18a · 18b ^ 19a · 19b ^ 20 ^ 21 ^
SP1: - -
SP2: - - -
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10: - - - - - - - - - - - - - - - - - -
SP11:
SP12:

ExUns: 22 ^ 23 ^ 24 ^ 25a · 25b ^ 26a · 26b ^ 27 ^ 28a · 28b ^ 29 ^ 30 ^ 31 ^ 32 ^ 33 ^ 34 ^ 35a · 35b ^ 36a · 36b ^ 37a · 37b ^ 38a · 38b · 38c ^ 39 ^
SP1: - - - - - - - - - - - - -
SP2:
SP3:
SP4: - -
SP5:
SP6:
SP7: - - -
SP8:
SP9:
SP10:
SP11:
SP12: - - - - - - - - - - - - - - - - - - -

ExUns: 40a · 40b · 40c ^ 41a · 41b ^ 42a · 42b ^ 43 ^ 44a · 44b ^ 45a · 45b · 45c ^ 46a · 46b
SP1: -
SP2:
SP3:
SP4: - - - -
SP5: - - - - -
SP6:
SP7: - - - - - - - - - - - - -
SP8:
SP9:
SP10:
SP11:
SP12: - - - - - - - - - - -

Relevant External Links for MYH9 Gene

GeneLoc Exon Structure for
MYH9
ECgene alternative splicing isoforms for
MYH9

Expression for MYH9 Gene

mRNA expression in normal human tissues for MYH9 Gene

mRNA differential expression in normal tissues according to GTEx for MYH9 Gene

This gene is overexpressed in Artery - Aorta (x4.9).

Protein differential expression in normal tissues from HIPED for MYH9 Gene

This gene is overexpressed in Bone marrow mesenchymal stem cell (17.6) and Bone marrow stromal cell (6.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for MYH9 Gene



SOURCE GeneReport for Unigene cluster for MYH9 Gene Hs.474751

mRNA Expression by UniProt/SwissProt for MYH9 Gene

P35579-MYH9_HUMAN
Tissue specificity: In the kidney, expressed in the glomeruli. Also expressed in leukocytes.
genes like me logo Genes that share expression patterns with MYH9: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and Protein tissue co-expression partners for MYH9 Gene

Orthologs for MYH9 Gene

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

Orthologs for MYH9 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia MYH9 35
  • 92.07 (n)
  • 97.23 (a)
MYH9 36
  • 97 (a)
OneToOne
dog
(Canis familiaris)
Mammalia MYH9 35
  • 92.65 (n)
  • 98.32 (a)
MYH9 36
  • 98 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Myh9 35
  • 90.51 (n)
  • 97.09 (a)
Myh9 16
Myh9 36
  • 97 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia MYH9 35
  • 96.5 (n)
  • 96 (a)
MYH9 36
  • 98 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia LOC100911597 35
  • 90 (n)
  • 96.84 (a)
oppossum
(Monodelphis domestica)
Mammalia MYH9 36
  • 96 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia MYH9 36
  • 95 (a)
OneToOne
chicken
(Gallus gallus)
Aves MYH9 35
  • 80.91 (n)
  • 92.75 (a)
MYH9 36
  • 93 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia MYH9 36
  • 92 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia myh9 35
  • 75.29 (n)
  • 87.84 (a)
zebrafish
(Danio rerio)
Actinopterygii -- 35
myh9a 35
  • 72.72 (n)
  • 77.79 (a)
myh9a 36
  • 77 (a)
OneToMany
myh9b 36
  • 83 (a)
OneToMany
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.10217 35
fruit fly
(Drosophila melanogaster)
Insecta zip 37
  • 61 (a)
zip 36
  • 58 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea C02F12.7 37
  • 20 (a)
F45G2.2 37
  • 39 (a)
hcp-1 37
  • 21 (a)
hcp-2 37
  • 22 (a)
nmy-1 37
  • 50 (a)
Y11D7A.14 37
  • 29 (a)
nmy-1 36
  • 50 (a)
ManyToMany
nmy-2 36
  • 43 (a)
ManyToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes MYO1 36
  • 29 (a)
OneToMany
bread mold
(Neurospora crassa)
Ascomycetes NCU00551 35
  • 50.71 (n)
  • 40.62 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes myp2 35
  • 46.83 (n)
  • 40.24 (a)
Species with no ortholog for MYH9:
  • 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)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • 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)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • 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 MYH9 Gene

ENSEMBL:
Gene Tree for MYH9 (if available)
TreeFam:
Gene Tree for MYH9 (if available)

Paralogs for MYH9 Gene

Paralogs for MYH9 Gene

Pseudogenes.org Pseudogenes for MYH9 Gene

genes like me logo Genes that share paralogs with MYH9: view

Variants for MYH9 Gene

Sequence variations from dbSNP and Humsavar for MYH9 Gene

SNP ID Clin Chr 22 pos Sequence Context AA Info Type
VAR_010791 May-Hegglin anomaly (MHA)
VAR_010792 Alport syndrome, with macrothrombocytopenia (APSM)
VAR_010792 Epstein syndrome (EPS)
VAR_010792 Fechtner syndrome (FTNS)
VAR_010792 May-Hegglin anomaly (MHA)

Structural Variations from Database of Genomic Variants (DGV) for MYH9 Gene

Variant ID Type Subtype PubMed ID
nsv522931 CNV Gain 19592680
nsv834185 CNV Loss 17160897
nsv915007 CNV Loss 21882294
nsv523911 CNV Loss 19592680
nsv523629 CNV Loss 19592680
nsv520497 CNV Gain 19592680
esv2724191 CNV Deletion 23290073
esv2724192 CNV Deletion 23290073
esv1147593 CNV Insertion 17803354
nsv834186 CNV Loss 17160897
esv2665599 CNV Deletion 23128226

Variation tolerance for MYH9 Gene

Residual Variation Intolerance Score: 0.554% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.76; 83.24% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for MYH9 Gene

Human Gene Mutation Database (HGMD)
MYH9

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MYH9 Gene

Disorders for MYH9 Gene

MalaCards: The human disease database

(36) MalaCards diseases for MYH9 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
fechtner syndrome
  • alport syndrome with leukocyte inclusions and macrothrombocytopenia
sebastian syndrome
  • sbs
epstein syndrome
  • alport syndrome with macrothrombocytopenia
may-hegglin anomaly
  • dohle leukocyte inclusions with giant platelets
macrothrombocytopenia and progressive sensorineural deafness
  • mpsd
- elite association - COSMIC cancer census association via MalaCards
Search MYH9 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

MYH9_HUMAN
  • Alport syndrome, with macrothrombocytopenia (APSM) [MIM:153650]: An autosomal dominant disorder characterized by the association of ocular lesions, sensorineural hearing loss and nephritis (Alport syndrome) with platelet defects. {ECO:0000269 PubMed:11590545}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Deafness, autosomal dominant, 17 (DFNA17) [MIM:603622]: A form of deafness characterized by progressive high frequency hearing impairment and cochleosaccular degeneration. {ECO:0000269 PubMed:11023810}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Epstein syndrome (EPS) [MIM:153650]: An autosomal dominant disorder characterized by the association of macrothrombocytopathy, sensorineural hearing loss and nephritis. {ECO:0000269 PubMed:11752022, ECO:0000269 PubMed:11935325, ECO:0000269 PubMed:12533692, ECO:0000269 PubMed:12792306, ECO:0000269 PubMed:16969870}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Fechtner syndrome (FTNS) [MIM:153640]: Autosomal dominant macrothrombocytopenia characterized by thrombocytopenia, giant platelets and leukocyte inclusions that are small and poorly organized. Additionally, FTNS is distinguished by Alport-like clinical features of sensorineural deafness, cataracts and nephritis. {ECO:0000269 PubMed:10973259, ECO:0000269 PubMed:11776386, ECO:0000269 PubMed:12533692, ECO:0000269 PubMed:12792306}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Macrothrombocytopenia and progressive sensorineural deafness (MPSD) [MIM:600208]: An autosomal dominant disorder characterized by the association of macrothrombocytopathy and progressive sensorineural hearing loss without renal dysfunction. {ECO:0000269 PubMed:12621333}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • May-Hegglin anomaly (MHA) [MIM:155100]: A disorder characterized by thrombocytopenia, giant platelets and Dohle body-like inclusions in peripheral blood leukocytes. appearing as highly parallel paracrystalline bodies. {ECO:0000269 PubMed:10973260, ECO:0000269 PubMed:12533692, ECO:0000269 PubMed:12792306}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Note=Genetic variations in MYH9 are associated with non-diabetic end stage renal disease (ESRD).
  • Note=Subjects with mutations in the motor domain of MYH9 present with severe thrombocytopenia and develop nephritis and deafness before the age of 40 years, while those with mutations in the tail domain have a much lower risk of noncongenital complications and significantly higher platelet counts. The clinical course of patients with mutations in the four most frequently affected residues of MYH9 (responsible for 70% of MYH9-related cases) were evaluated. Mutations at residue 1933 do not induce kidney damage or cataracts and cause deafness only in the elderly, those in position 702 result in severe thrombocytopenia and produce nephritis and deafness at a juvenile age, while alterations at residue 1424 or 1841 result in intermediate clinical pictures.
  • Sebastian syndrome (SBS) [MIM:605249]: Autosomal dominant macrothrombocytopenia characterized by thrombocytopenia, giant platelets and leukocyte inclusions that are smaller and less organized than in May-Hegglin anomaly. {ECO:0000269 PubMed:12533692}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for MYH9

Genetic Association Database (GAD)
MYH9
Human Genome Epidemiology (HuGE) Navigator
MYH9
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
MYH9
genes like me logo Genes that share disorders with MYH9: view

No data available for Genatlas for MYH9 Gene

Publications for MYH9 Gene

  1. Polymorphisms in the non-muscle myosin heavy chain 9 gene (MYH9) are strongly associated with end-stage renal disease historically attributed to hypertension in African Americans. (PMID: 19177153) Freedman B.I. … Bowden D.W. (Kidney Int. 2009) 3 4 23 48 67
  2. Human nonsyndromic hereditary deafness DFNA17 is due to a mutation in nonmuscle myosin MYH9. (PMID: 11023810) Lalwani A.K. … Mhatre A.N. (Am. J. Hum. Genet. 2000) 2 3 23
  3. Human nonmuscle myosin heavy chains are encoded by two genes located on different chromosomes. (PMID: 1860190) Simons M. … Weir L. (Circ. Res. 1991) 2 3 23
  4. Association among polymorphisms at MYH9, environmental factors, and nonsyndromic orofacial clefts in western China. (PMID: 19891592) Jia Z.L. … Shi B. (DNA Cell Biol. 2010) 3 23
  5. The association of the MYH9 gene and kidney outcomes in American Indians: the Strong Heart Family Study. (PMID: 19921264) Franceschini N. … Cole S.A. (Hum. Genet. 2010) 3 23

Products for MYH9 Gene

Sources for MYH9 Gene

Content