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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
  • Non-Muscle Myosin Heavy Chain IIa 3 4
  • Nonmuscle Myosin Heavy Chain II-A 2 3
  • 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 Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss and Deafness, Autosomal Dominant 17. 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 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

Additional gene information 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

GeneHancer (GH) Regulatory Elements for MYH9 Gene

Promoters and enhancers for MYH9 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH22J036348 Promoter/Enhancer 2.9 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 657.3 +19.2 19247 40.9 MLX FEZF1 DMAP1 YBX1 IRF4 YY1 SLC30A9 ZNF213 E2F8 ZNF143 MYH9 MCM5 EIF3D TXN2 ENSG00000252225 FOXRED2 RBFOX2 LOC105377199 APOL3 ENSG00000228719
GH22J036422 Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 11.3 -37.0 -36977 5.3 PKNOX1 FOXA2 ARID4B DMAP1 ZNF766 FOS SP5 ZNF592 KAT8 MEF2D EIF3D FOXRED2 MYH9 TXN2 IFT27 RPS15AP38 ENSG00000252225
GH22J035626 Enhancer 1.4 Ensembl ENCODE dbSUPER 11.1 +759.0 759034 4.7 ATF1 ARNT ARID4B NEUROD1 SIN3A DMAP1 YY1 GLIS2 ZNF143 ATF7 RBFOX2 EIF3D MCM5 HMGXB4 MYH9 RASD2 APOL6 ENSG00000268818 LOC284912 MB
GH22J036443 Enhancer 1.2 Ensembl ENCODE dbSUPER 11.3 -56.5 -56483 3.1 ELF3 ZNF48 ZNF23 ZNF366 FOS THAP11 MIXL1 RXRA SP5 ZNF398 EIF3D IFT27 MYH9 TXN2 FOXRED2 ENSG00000252225 ENSG00000228719
GH22J036051 Enhancer 1 Ensembl ENCODE 11.1 +335.4 335354 2.4 HDAC1 PKNOX1 NFRKB ZNF133 KLF17 ZNF121 ZNF366 FOS ZBTB11 ZNF592 EIF3D MCM5 RBFOX2 MYH9 APOL3 ENSG00000279927 GC22P036036
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around MYH9 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the MYH9 gene promoter:
  • c-Ets-1
  • Tal-1beta
  • E47
  • MyoD
  • Max1
  • c-Myc
  • USF-1
  • USF1
  • Pax-4a
  • Cart-1

Genomic Locations for MYH9 Gene

Genomic Locations for MYH9 Gene
chr22:36,281,277-36,388,067
(GRCh38/hg38)
Size:
106,791 bases
Orientation:
Minus strand
chr22:36,677,323-36,784,063
(GRCh37/hg19)
Size:
106,741 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:
    • 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 (By similarity). Interacts with DDR1 (By similarity). Interacts with SLC6A4 (By similarity). Interacts with PDLIM2 (By similarity). Interacts with SVIL (PubMed:12917436, PubMed:17925381). Interacts with HTRA3 (PubMed:22229724). Interacts with Myo7a (By similarity). Interacts with C9orf135 (PubMed:28345668).
    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.
  • Ubiquitination at isoforms=21566, isoforms=1392, isoforms=1234, isoforms=2835, isoforms=2760, isoforms=2637, Lys373, isoforms=2261, Lys186, isoforms=102, Lys38, and Lys14
  • Modification sites at PhosphoSitePlus

Other Protein References for MYH9 Gene

No data available for DME Specific Peptides for MYH9 Gene

Domains & Families for MYH9 Gene

Gene Families for MYH9 Gene

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

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

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.
GENATLAS Biochemistry:
myosin,motor contractile protein moving towards the "plus" end of actin track,heavy polypeptide 9,non muscle

Phenotypes From GWAS Catalog for MYH9 Gene

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 HDA 22681889
GO:0003774 motor activity IEA,NAS 12421915
GO:0003777 microtubule motor activity IEA --
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 Myh9<tm3(GFP/MYH9/MYH10)Rsad>
  • Myh9 Myh9<tm4(GFP/MYH10/MYH9)Rsad>
  • Myh9 Myh9<tm2(GFP/MYH10)Rsad>
  • Myh9 Myh9<tm1Maco>
  • Myh9 Myh9<tm1(mCherry/MYH9)Rsad>
  • Myh9 Myh9<tm8.1Rsad>
  • Myh9 Myh9<tm1.2Gac>

Animal Model Products

  • Taconic Biosciences Mouse Models for MYH9

CRISPR Products

miRNA for MYH9 Gene

miRTarBase miRNAs that target MYH9

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MYH9

Clone Products

  • Addgene plasmids 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 (PubMed:20052411). In retinal pigment epithelial cells, predominantly localized to stress fiber-like structures with some localization to cytoplasmic puncta (PubMed:27331610). {ECO:0000269 PubMed:20052411, ECO:0000269 PubMed:27331610}.

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

Subcellular locations from the

Human Protein Atlas (HPA)
  • Actin filaments (3)
  • Cytosol (3)
  • Plasma membrane (3)
See all subcellular structures

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:0001525 angiogenesis IDA 16403913
GO:0001701 in utero embryonic development IEA --
GO:0001768 establishment of T cell polarity IEA --
genes like me logo Genes that share ontologies with MYH9: view

Drugs & Compounds for MYH9 Gene

(6) Drugs for MYH9 Gene - From: DrugBank, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Dihydroartemisinin Approved, Investigational Pharma Target, ligand 100
(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

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MYH9

Clone Products

  • Addgene plasmids 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, 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)
  • Nervous system(4.9)
  • Blood(4.8)
  • Lung(4.8)
  • Intestine(4.7)
  • Gall bladder(4.1)
  • Heart(4.1)
  • Skin(4.1)
  • Kidney(3.8)
  • Pancreas(3.5)
  • Bone(3)
  • Adrenal gland(2.9)
  • Spleen(2.8)
  • Bone marrow(2.7)
  • Muscle(2.7)
  • Eye(2.6)
  • Stomach(2.5)
  • 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
Regions:
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

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 33
  • 96.5 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia MYH9 34
  • 96 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia MYH9 34
  • 95 (a)
OneToOne
dog
(Canis familiaris)
Mammalia MYH9 34 33
  • 92.65 (n)
OneToOne
cow
(Bos Taurus)
Mammalia MYH9 34 33
  • 92.07 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Myh9 16 34 33
  • 90.51 (n)
rat
(Rattus norvegicus)
Mammalia LOC100911597 33
  • 90 (n)
chicken
(Gallus gallus)
Aves MYH9 34 33
  • 80.91 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia MYH9 34
  • 92 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia myh9 33
  • 75.29 (n)
zebrafish
(Danio rerio)
Actinopterygii myh9b 34
  • 83 (a)
OneToMany
myh9a 34 33
  • 72.72 (n)
OneToMany
-- 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.10217 33
fruit fly
(Drosophila melanogaster)
Insecta zip 34 35
  • 58 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea nmy-1 34 35
  • 50 (a)
ManyToMany
nmy-2 34
  • 43 (a)
ManyToMany
F45G2.2 35
  • 39 (a)
Y11D7A.14 35
  • 29 (a)
hcp-2 35
  • 22 (a)
hcp-1 35
  • 21 (a)
C02F12.7 35
  • 20 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes MYO1 34
  • 29 (a)
OneToMany
bread mold
(Neurospora crassa)
Ascomycetes NCU00551 33
  • 50.71 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes myp2 33
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for MYH9: view image

Paralogs for MYH9 Gene

Paralogs for MYH9 Gene

(39) SIMAP similar genes for MYH9 Gene using alignment to 5 proteins:

  • MYH9_HUMAN
  • B1AH99_HUMAN
  • Q2PS10_HUMAN
  • Q5BKV1_HUMAN
  • Q86XU5_HUMAN

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 Variation AA Info Type
rs11089787 benign, Nonsyndromic Hearing Loss, Dominant, MYH9-related disorder 36,282,407(-) C/G 3_prime_UTR_variant
rs113285582 conflicting-interpretations-of-pathogenicity, likely-benign, not specified, Nonsyndromic Hearing Loss, Dominant, MYH9-related disorder 36,302,619(-) G/A coding_sequence_variant, synonymous_variant
rs113698937 benign, likely-benign, not specified, MYH9-related disorder, Nonsyndromic Hearing Loss, Dominant 36,293,875(-) G/A intron_variant
rs114268057 benign, Nonsyndromic Hearing Loss, Dominant, MYH9-related disorder 36,282,531(-) G/T 3_prime_UTR_variant
rs11549907 benign, not specified, MYH9-related disorder, Nonsyndromic Hearing Loss, Dominant 36,288,934(-) G/A coding_sequence_variant, synonymous_variant

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)

Additional Variant Information for MYH9 Gene

Human Gene Mutation Database (HGMD)
MYH9
SNPedia medical, phenotypic, and genealogical associations of SNPs for
MYH9

SNP Genotyping and Copy Number Assay Products

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

Disorders for MYH9 Gene

MalaCards: The human disease database

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

UniProtKB/Swiss-Prot

MYH9_HUMAN
  • 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.
  • 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.
  • 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.
  • Epstein syndrome (EPSTNS) [MIM:153650]: An autosomal dominant disorder characterized by the association of macrothrombocytopathy, sensorineural hearing loss and nephritis. {ECO:0000269 PubMed:11590545, 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.
  • 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.
  • 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.
  • 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.
  • Note=Genetic variations in MYH9 are associated with non-diabetic end stage renal disease (ESRD).

Additional Disease Information for MYH9

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(GAD)
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(HuGE)
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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 BI … Bowden DW (Kidney international 2009) 3 4 22 44 58
  2. MYH9 is a major-effect risk gene for focal segmental glomerulosclerosis. (PMID: 18794856) Kopp JB … Winkler CA (Nature genetics 2008) 3 4 22 44 58
  3. Human nonsyndromic hereditary deafness DFNA17 is due to a mutation in nonmuscle myosin MYH9. (PMID: 11023810) Lalwani AK … Mhatre AN (American journal of human genetics 2000) 2 3 4 22 58
  4. Human nonmuscle myosin heavy chains are encoded by two genes located on different chromosomes. (PMID: 1860190) Simons M … Weir L (Circulation research 1991) 2 3 4 22 58
  5. African ancestry allelic variation at the MYH9 gene contributes to increased susceptibility to non-diabetic end-stage kidney disease in Hispanic Americans. (PMID: 20144966) Behar DM … Skorecki K (Human molecular genetics 2010) 3 22 44 58

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