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Aliases for MYH9 Gene

Aliases for MYH9 Gene

  • Myosin Heavy Chain 9 2 3 4 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
  • Myosin, Heavy Chain 9, Non-Muscle 3
  • Non-Muscle Myosin Heavy Chain 9 3
  • NMMHC II-A 4
  • NMHC-II-A 3
  • Myosin-9 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) is a Protein Coding gene. Diseases associated with MYH9 include Fechtner Syndrome and Sebastian Syndrome. Among its related pathways are Immune response CCR3 signaling in eosinophils and Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases. GO annotations related to this gene include poly(A) RNA binding and protein homodimerization activity. An important paralog of this gene is MYH10.

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 CIViC summary , 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 Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH22G036348 2.1 FANTOM5 Ensembl ENCODE dbSUPER 7.3 +19.2 19247 40.9 MLX CREB3L1 DMAP1 YBX1 FEZF1 YY1 SLC30A9 ZNF143 ZNF263 SP3 TXN2 ENSG00000252225 FOXRED2 MYH9 LOC105377199 APOL3 EIF3D ENSG00000228719 APOL2 NCF4
GH22G036394 1.5 Ensembl ENCODE dbSUPER 5.3 -9.1 -9101 5.7 ATF1 FEZF1 DMAP1 GATA2 FOS SP5 JUNB PPARG KAT8 ATF4 ENSG00000252225 FOXRED2 ENSG00000228719 TXN2 MYH9 EIF3D GC22M036384 GC22P036390
GH22G036249 1.5 FANTOM5 ENCODE dbSUPER 5.3 +137.2 137207 2.7 PKNOX1 FOXA2 MLX ARID4B ZNF48 ZNF143 SP5 MIER2 PPARG TBX21 APOL3 MYH9 APOL1 APOL2
GH22G036252 1.1 ENCODE dbSUPER 5.4 +134.0 133976 3.2 HDAC1 ELF3 HDGF TBP ARID4B ZBTB40 EGR1 EGR2 ELF4 NCOA1 MYH9 CSF2RB APOL1 MIR6819
GH22G036392 0.9 Ensembl ENCODE dbSUPER 6 -3.8 -3783 0.9 ZBTB33 EZH2 MYH9 TXN2 GC22P036390 GC22M036384
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

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
ENSR00000145845 1167 3801 HDGF PKNOX1 MLX CREB3L1 WRNIP1 ARID4B SIN3A DMAP1 YBX1 FEZF1

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

Post-translational modifications for MYH9 Gene

  • ISGylated.
  • Ubiquitination at posLast=1414, posLast=3838, Lys102, posLast=186186, posLast=261261, posLast=373373, Lys637, Lys760, Lys835, Lys1234, posLast=13921392, and Lys1566
  • Modification sites at PhosphoSitePlus

Other Protein References for MYH9 Gene

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

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.
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:0000146 microfilament motor activity IDA 12237319
GO:0000166 nucleotide binding IEA --
GO:0003723 RNA binding IDA 22681889
GO:0003774 motor activity NAS,IEA 12421915
GO:0003779 actin binding IDA,IEA 15065866
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 tm2(GFP/MYH10)Rsad
  • Myh9 tm3(GFP/MYH9/MYH10)Rsad
  • Myh9 tm4(GFP/MYH10/MYH9)Rsad
  • Myh9 tm1Maco
  • Myh9 tm1(mCherry/MYH9)Rsad
  • Myh9 tm1.2Gac
  • Myh9 tm8.1Rsad

Animal Model Products

  • Taconic Biosciences Mouse Models for MYH9

CRISPR Products

miRNA for MYH9 Gene

miRTarBase miRNAs that target MYH9

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for MYH9
  • Applied Biological Materials Clones for 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
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 MYH9 gene
Compartment Confidence
plasma membrane 5
extracellular 5
cytoskeleton 5
nucleus 5
cytosol 5
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for MYH9 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001725 stress fiber IDA 7699007
GO:0001726 ruffle IDA 16403913
GO:0001772 colocalizes_with immunological synapse IDA 15064761
GO:0001931 uropod IDA 15064761
GO:0005634 nucleus IDA 14508515
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:0000910 cytokinesis IMP --
GO:0001525 angiogenesis IDA 16403913
GO:0001701 in utero embryonic development IEA --
genes like me logo Genes that share ontologies with MYH9: view

Drugs & Compounds for MYH9 Gene

(5) Drugs for MYH9 Gene - From: Tocris and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
(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

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
(+-)-Blebbistatin
674289-55-5
(S)-(-)-Blebbistatin
856925-71-8

(4) 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
BTS Selective inhibitor of skeletal muscle myosin II ATPase activity 1576-37-0
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:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for MYH9
  • Applied Biological Materials Clones for MYH9

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for MYH9 Gene



NURSA nuclear receptor signaling pathways regulating expression of MYH9 Gene:

MYH9

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.

Evidence on tissue expression from TISSUES for MYH9 Gene

  • Liver(4.9)
  • Blood(4.8)
  • Lung(4.8)
  • Nervous system(4.8)
  • Intestine(4.7)
  • Gall bladder(4.1)
  • Heart(4.1)
  • Skin(4.1)
  • Kidney(3.8)
  • Pancreas(3.5)
  • Adrenal gland(2.9)
  • Bone(2.9)
  • Spleen(2.8)
  • Bone marrow(2.7)
  • Muscle(2.7)
  • Stomach(2.7)
  • Eye(2.6)
  • Thyroid gland(2.5)
  • Lymph node(2.3)

Phenotype-based relationships between genes and organs from Gene ORGANizer for MYH9 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • nervous
  • reproductive
  • urinary
Organs:
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • ear
  • eye
  • face
  • head
  • inner ear
  • middle ear
  • nose
  • outer ear
Thorax:
  • heart
  • heart valve
Abdomen:
  • intestine
  • kidney
  • large intestine
  • small intestine
  • stomach
Pelvis:
  • ureter
  • urethra
  • urinary bladder
  • uterus
Limb:
  • forearm
General:
  • blood
  • blood vessel
  • coagulation system
  • peripheral nerve
  • peripheral nervous system
  • red blood cell
  • skin
  • white blood cell
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
chimpanzee
(Pan troglodytes)
Mammalia MYH9 34 35
  • 96.5 (n)
oppossum
(Monodelphis domestica)
Mammalia MYH9 35
  • 96 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia MYH9 35
  • 95 (a)
OneToOne
dog
(Canis familiaris)
Mammalia MYH9 34 35
  • 92.65 (n)
cow
(Bos Taurus)
Mammalia MYH9 34 35
  • 92.07 (n)
mouse
(Mus musculus)
Mammalia Myh9 34 16 35
  • 90.51 (n)
rat
(Rattus norvegicus)
Mammalia LOC100911597 34
  • 90 (n)
chicken
(Gallus gallus)
Aves MYH9 34 35
  • 80.91 (n)
lizard
(Anolis carolinensis)
Reptilia MYH9 35
  • 92 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia myh9 34
  • 75.29 (n)
zebrafish
(Danio rerio)
Actinopterygii myh9b 35
  • 83 (a)
OneToMany
myh9a 34 35
  • 72.72 (n)
-- 34
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.10217 34
fruit fly
(Drosophila melanogaster)
Insecta zip 36 35
  • 61 (a)
worm
(Caenorhabditis elegans)
Secernentea nmy-1 36 35
  • 50 (a)
nmy-2 35
  • 43 (a)
ManyToMany
F45G2.2 36
  • 39 (a)
Y11D7A.14 36
  • 29 (a)
hcp-2 36
  • 22 (a)
hcp-1 36
  • 21 (a)
C02F12.7 36
  • 20 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes MYO1 35
  • 29 (a)
OneToMany
bread mold
(Neurospora crassa)
Ascomycetes NCU00551 34
  • 50.71 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes myp2 34
  • 46.83 (n)
Species where no ortholog for MYH9 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)
  • 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

Variants for MYH9 Gene

Sequence variations from dbSNP and Humsavar for MYH9 Gene

SNP ID Clin Chr 22 pos Sequence Context AA Info Type
rs121913655 Pathogenic, May-Hegglin anomaly (MHA) [MIM:155100] 36,348,958(-) CTCAA(C/G/T)GAAGC reference, synonymous-codon
rs121913656 Pathogenic, Fechtner syndrome (FTNS) [MIM:153640], May-Hegglin anomaly (MHA) [MIM:155100] 36,295,526(-) TTCCA(C/T)AGCTG reference, missense
rs121913657 Pathogenic, Epstein syndrome (EPSTNS) [MIM:153650] 36,348,950(-) AGCCT(C/T)GGTGC reference, missense
rs200901330 Uncertain significance, Alport syndrome, with macrothrombocytopenia (APSM) [MIM:153650] 36,295,650(+) TTCAG(A/G)GATCT reference, missense
rs554332083 Fechtner syndrome (FTNS) [MIM:153640] 36,300,961(+) CTGCT(G/T)CTTGG reference, missense

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

Variant ID Type Subtype PubMed ID
dgv4564n100 CNV gain 25217958
esv1147593 CNV insertion 17803354
esv2665599 CNV deletion 23128226
esv2724191 CNV deletion 23290073
esv2724192 CNV deletion 23290073
esv2760715 CNV gain 21179565
esv3568385 CNV loss 25503493
esv3568386 CNV loss 25503493
esv3647682 CNV gain 21293372
esv3647684 CNV loss 21293372
nsv520497 CNV gain 19592680
nsv522931 CNV gain 19592680
nsv523629 CNV loss 19592680
nsv523911 CNV loss 19592680
nsv834185 CNV loss 17160897
nsv834186 CNV loss 17160897

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
SNPedia medical, phenotypic, and genealogical associations of SNPs for
MYH9

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

Disorders for MYH9 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
fechtner syndrome
  • sebastian syndrome
sebastian syndrome
  • sbs
epstein syndrome
  • sebastian syndrome
may-hegglin anomaly
  • sebastian syndrome
deafness, autosomal dominant 17
  • autosomal dominant nonsyndromic deafness 17
- 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 (EPSTNS) [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:11752022, 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:10973259, ECO:0000269 PubMed:10973260, ECO:0000269 PubMed:11590545, 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.
  • 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 22 46 64
  2. MYH9 is a major-effect risk gene for focal segmental glomerulosclerosis. (PMID: 18794856) Kopp J.B. … Winkler C.A. (Nat. Genet. 2008) 3 4 22 46 64
  3. 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 4 22 64
  4. 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 4 22 64
  5. 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 22 46 64

Products for MYH9 Gene

  • Addgene plasmids for MYH9

Sources for MYH9 Gene

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