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 ... See more...

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-9 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
  • NMMHC-A 4
  • BDPLT6 3
  • MATINS 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 Sertoli-Sertoli Cell Junction Dynamics and Immune response CCR3 signaling in eosinophils. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity. An important paralog of this gene is MYH10.

UniProtKB/Swiss-Prot Summary 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 , Rfam classification 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 2.6 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 507.3 +19.1 19079 41.2 EP300 FOXK2 ZBTB40 ZNF217 CTCF ZSCAN5C SIN3A NRF1 TCF12 ZNF300 MYH9 RBFOX2 FOXRED2 TXN2 ENSG00000252225 IFT27 ENSG00000223695 APOL3 EIF3D ENSG00000228719
GH22J036153 Promoter/Enhancer 2.2 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 13.6 +229.4 229436 10.7 POLR2G TEAD4 POLR2A TCF7 RELA MEF2C TRIM22 TEAD1 ATF2 SIN3A APOL3 lnc-APOL4-3 MYH9 lnc-APOL4-2
GH22J035396 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 11.9 +989.0 989022 5.6 ZBTB40 SIN3A NRF1 TCF12 POLR2G SP1 GTF2E2 TEAD4 FOS ZNF639 MCM5 lnc-HMOX1-1 lnc-MB-10 HMGXB4 MYH9 APOL4 piR-43105-433
GH22J036425 Enhancer 1.4 FANTOM5 ENCODE CraniofacialAtlas dbSUPER 13.9 -38.5 -38511 2.2 POLR2G ZIC2 TGIF2 ZBTB7A HINFP TAF9B NR2F2 NCOR1 RELA ZNF282 MYH9 TXN2 FOXRED2 IFT27 RPS15AP38 RF00951-103
GH22J036252 Promoter/Enhancer 1.7 EPDnew Ensembl ENCODE dbSUPER 5.4 +133.9 133931 3.3 POLR2G ZBTB5 MYC POLR2A TEAD1 TAF9B KMT2B NCOR1 NFIC IRF1 APOL1 MYH9 CSF2RB NONHSAG033827.2
- 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

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for MYH9

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

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). Interacts with LIMCH1; independently of the integration of MYH9 into the myosin complex (PubMed:28228547). Interacts with RAB3A (PubMed:27325790).
    SequenceCaution:
    • Sequence=CAD89954.1; Type=Frameshift; 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 Lys8, Lys14, Lys38, Lys186, Lys102, Lys261, Lys299, Lys373, Lys637, Lys651, Lys760, Lys833, Lys835, Lys1566, Lys1234, and Lys1392
  • Modification sites at PhosphoSitePlus

Other Protein References for MYH9 Gene

ENSEMBL proteins:
REFSEQ proteins:

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

Protein Domains for MYH9 Gene

Blocks:
  • Spectrin repeat
  • IQ calmodulin-binding region
  • Myosin tail
  • Myosin N-terminal SH3-like domain
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for MYH9 Gene

GenScript: Design optimal peptide antigens:
  • Non-muscle myosin heavy chain IIa (MYH9_HUMAN)
  • Non-muscle myosin heavy chain (Q2PS10_HUMAN)
  • Non-muscle myosin heavy polypeptide 9 (Q60FE2_HUMAN)
  • MYH9 protein (Q86XU5_HUMAN)

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:0003779 actin binding IEA,IDA 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 Myh9<tm2(GFP/MYH10)Rsad>
  • Myh9 Myh9<tm3(GFP/MYH9/MYH10)Rsad>
  • Myh9 Myh9<tm4(GFP/MYH10/MYH9)Rsad>
  • Myh9 Myh9<tm1a(EUCOMM)Wtsi>
  • 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

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
cytoskeleton 5
nucleus 5
cytosol 5
extracellular 2
mitochondrion 2
endoplasmic reticulum 2
lysosome 2
golgi apparatus 2
peroxisome 1
endosome 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:0005623 cell IEA --
genes like me logo Genes that share ontologies with MYH9: view

Pathways & Interactions for MYH9 Gene

PathCards logo

SuperPathways for MYH9 Gene

SuperPathway Contained pathways
1 Semaphorin interactions
2 Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases
.49
.49
.42
.32
3 PAK Pathway
.56
.56
.36
4 Actin Nucleation by ARP-WASP Complex
.66
.35
5 RhoGDI Pathway
.33
.33
genes like me logo Genes that share pathways with MYH9: view

Pathways by source for MYH9 Gene

6 GeneGo (Thomson Reuters) pathways for MYH9 Gene
  • Cell adhesion Integrin-mediated cell adhesion and migration
  • Cell adhesion Tight junctions
  • Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases
  • Development MAG-dependent inhibition of neurite outgrowth
  • Immune response CCR3 signaling in eosinophils
11 Qiagen pathways for MYH9 Gene
  • Actin Nucleation by ARP-WASP Complex
  • Antioxidant Action of Vitamin-C
  • Cellular Effects of Sildenafil
  • Epithelial Adherens Junctions
  • Epithelial Tight Junctions
1 Cell Signaling Technology pathway for MYH9 Gene

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 Experimental, Investigational Pharma Target, ligand 113
(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

mRNA/cDNA for MYH9 Gene

1 REFSEQ mRNAs :
22 NCBI additional mRNA sequence :
11 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

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

Expression for MYH9 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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 31 30
  • 96.5 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia MYH9 31
  • 96 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia MYH9 31
  • 95 (a)
OneToOne
dog
(Canis familiaris)
Mammalia MYH9 31 30
  • 92.65 (n)
OneToOne
cow
(Bos Taurus)
Mammalia MYH9 31 30
  • 92.07 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Myh9 17 31 30
  • 90.51 (n)
rat
(Rattus norvegicus)
Mammalia LOC100911597 30
  • 90 (n)
chicken
(Gallus gallus)
Aves MYH9 31 30
  • 80.91 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia MYH9 31
  • 92 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia myh9 30
  • 75.29 (n)
zebrafish
(Danio rerio)
Actinopterygii myh9b 31
  • 83 (a)
OneToMany
myh9a 31 30
  • 72.72 (n)
OneToMany
-- 30
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.10217 30
fruit fly
(Drosophila melanogaster)
Insecta zip 31 32
  • 58 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea nmy-1 31 32
  • 50 (a)
ManyToMany
nmy-2 31
  • 43 (a)
ManyToMany
F45G2.2 32
  • 39 (a)
Y11D7A.14 32
  • 29 (a)
hcp-2 32
  • 22 (a)
hcp-1 32
  • 21 (a)
C02F12.7 32
  • 20 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes MYO1 31
  • 29 (a)
OneToMany
bread mold
(Neurospora crassa)
Ascomycetes NCU00551 30
  • 50.71 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes myp2 30
  • 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

(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, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for MYH9 Gene

SNP ID Clinical significance and condition Chr 22 pos Variation AA Info Type
623094 Likely Pathogenic: MYH9-related disorder 36,349,140(-) A/C MISSENSE_VARIANT
623095 Uncertain Significance: MYH9-related disorder 36,349,120(-) ACTCTTGTCG/A INFRAME_DELETION
623096 Likely Pathogenic: MYH9-related disorder 36,301,020(-) TG/T FRAMESHIFT_VARIANT
623097 Uncertain Significance: Thrombocytopenia; MYH9-related disorder 36,300,928(-) C/T MISSENSE_VARIANT
623098 Uncertain Significance: MYH9-related disorder 36,296,892(-) T/TGAGCTCCGCGATC INFRAME_INSERTION

Additional dbSNP identifiers (rs#s) for MYH9 Gene

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

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

- 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
  • Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss (MATINS) [MIM:155100]: An autosomal dominant disorder characterized by thrombocytopenia, giant platelets and Dohle body-like inclusions in peripheral blood leukocytes with variable ultrastructural appearance. Some affected individuals lack leukocyte inclusion bodies on classic staining of peripheral blood smears. Alport syndrome-like features of nephritis, hearing loss, and eye abnormalities are present in some patients. {ECO:0000269 PubMed:10973259, ECO:0000269 PubMed:10973260, ECO:0000269 PubMed:11590545, ECO:0000269 PubMed:11752022, ECO:0000269 PubMed:11776386, ECO:0000269 PubMed:11935325, ECO:0000269 PubMed:12533692, ECO:0000269 PubMed:12621333, ECO:0000269 PubMed:12649151, 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.
  • 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

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 BI … Bowden DW (Kidney international 2009) 3 4 23 41 54
  2. MYH9 is a major-effect risk gene for focal segmental glomerulosclerosis. (PMID: 18794856) Kopp JB … Winkler CA (Nature genetics 2008) 3 4 23 41 54
  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 23 54
  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 23 54
  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 23 41 54

Products for MYH9 Gene