Human Gene MYH9 (uc003apg.1) Description and Page Index
  Description: myosin, heavy polypeptide 9, non-muscle
RefSeq Summary (NM_002473): 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].
Transcript (Including UTRs)
   Position: hg18 chr22:35,007,272-35,113,927 Size: 106,656 Total Exon Count: 41 Strand: -
Coding Region
   Position: hg18 chr22:35,008,660-35,075,227 Size: 66,568 Coding Exon Count: 40 

Page IndexSequence and LinksUniProtKB CommentsGenetic AssociationsCTDMicroarray Expression
RNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA DescriptionsPathways
Other NamesGeneReviewsModel InformationMethods
Data last updated at UCSC: 2009-03-03

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr22:35,007,272-35,113,927)mRNA (may differ from genome)Protein (1960 aa)
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MGIOMIMPubMedReactomeTreefamUniProtKB

-  Comments and Description Text from UniProtKB
  ID: MYH9_HUMAN
DESCRIPTION: RecName: Full=Myosin-9; AltName: Full=Cellular myosin heavy chain, type A; AltName: Full=Myosin heavy chain 9; AltName: Full=Myosin heavy chain, non-muscle IIa; AltName: Full=Non-muscle myosin heavy chain A; Short=NMMHC-A; AltName: Full=Non-muscle myosin heavy chain IIa; Short=NMMHC II-a; Short=NMMHC-IIA;
FUNCTION: Cellular myosin that appears to play a role in cytokinesis, cell shape, and specialized functions such as secretion and capping.
SUBUNIT: 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.
INTERACTION: P61073:CXCR4; NbExp=5; IntAct=EBI-350338, EBI-489411; O00255:MEN1; NbExp=7; IntAct=EBI-350338, EBI-592789; P19338:NCL; NbExp=3; IntAct=EBI-350338, EBI-346967;
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton (By similarity). Cytoplasm, cell cortex (By similarity). Note=Colocalizes with actin filaments at lamellipodia margins and at the leading edge of migrating cells (By similarity).
TISSUE SPECIFICITY: In the kidney, expressed in the glomeruli. Also expressed in leukocytes.
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.
PTM: ISGylated.
DISEASE: Defects in MYH9 are the cause of May-Hegglin anomaly (MHA) [MIM:155100]. MHA is an autosomal dominant macrothrombocytopenia characterized by thrombocytopenia, giant platelets and leukokyte inclusions appearing as highly parallel paracrystalline bodies.
DISEASE: Defects in MYH9 are the cause of Sebastian syndrome (SBS) [MIM:605249]. SBS is an autosomal dominant macrothrombocytopenia characterized by thrombocytopenia, giant platelets and leukocyte inclusions that are smaller and less organized than in May-Hegglin anomaly.
DISEASE: Defects in MYH9 are the cause of Fechtner syndrome (FTNS) [MIM:153640]. FTNS is an 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.
DISEASE: Defects in MYH9 are the cause of Alport syndrome with macrothrombocytopenia (APSM) [MIM:153650]. APSM is an autosomal dominant disorder characterized by the association of ocular lesions, sensorineural hearing loss and nephritis (Alport syndrome) with platelet defects.
DISEASE: Defects in MYH9 are the cause of Epstein syndrome (EPS) [MIM:153650]. EPS is an autosomal dominant disorder characterized by the association of macrothrombocytopathy, sensorineural hearing loss and nephritis.
DISEASE: Defects in MYH9 are the cause of deafness autosomal dominant type 17 (DFNA17) [MIM:603622]. DFNA17 is a form of sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. DFNA17 is characterized by progressive hearing impairment and cochleosaccular degeneration.
DISEASE: Defects in MYH9 are the cause of macrothrombocytopenia with progressive sensorineural deafness (MPSD) [MIM:600208]. MPSD is an autosomal dominant disorder characterized by the association of macrothrombocytopathy and progressive sensorineural hearing loss without renal dysfunction.
DISEASE: 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.
DISEASE: Note=Genetic variations in MYH9 are associated with non- diabetic end stage renal disease (ESRD).
SIMILARITY: Contains 1 IQ domain.
SIMILARITY: Contains 1 myosin head-like domain.
SEQUENCE CAUTION: Sequence=CAD89954.1; Type=Frameshift; Positions=1890;
WEB RESOURCE: Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/MYH9ID481.html";
WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/MYH9";

-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): MYH9
CDC HuGE Published Literature: MYH9

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  Microarray Expression Data
 
Expression ratio colors:

GNF Expression Atlas 2 Data from U133A and GNF1H Chips

      
      
      
     
    
     
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Affymetrix All Exon Microarrays

           
Ratios

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -62.30149-0.418 Picture PostScript Text
3' UTR -481.411388-0.347 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR000048 - IQ_motif_EF-hand-BS
IPR001609 - Myosin_head_motor_dom
IPR004009 - Myosin_N
IPR002928 - Myosin_tail
IPR016137 - Regulat_G_prot_signal_superfam

Pfam Domains:
PF00063 - Myosin head (motor domain)
PF01576 - Myosin tail
PF02736 - Myosin N-terminal SH3-like domain
PF00612 - IQ calmodulin-binding motif

SCOP Domains:
46579 - Prefoldin
48097 - Regulator of G-protein signaling, RGS
50084 - Myosin S1 fragment, N-terminal domain
52540 - P-loop containing nucleoside triphosphate hydrolases

Protein Data Bank (PDB) 3-D Structure
MuPIT help

2LNK
- NMR MuPIT

3ZWH
- X-ray MuPIT

4ETO
- X-ray MuPIT


ModBase Predicted Comparative 3D Structure on P35579
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserNo orthologNo orthologNo orthologNo orthologGenome Browser
Gene DetailsGene Details   Gene Details
Gene SorterGene Sorter   Gene Sorter
MGIRGD   SGD
Protein Sequence    Protein Sequence
Alignment    Alignment

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000146 microfilament motor activity
GO:0000166 nucleotide binding
GO:0003723 RNA binding
GO:0003774 motor activity
GO:0003777 microtubule motor activity
GO:0003779 actin binding
GO:0005515 protein binding
GO:0005516 calmodulin binding
GO:0005524 ATP binding
GO:0008017 microtubule binding
GO:0016887 ATPase activity
GO:0019904 protein domain specific binding
GO:0030898 actin-dependent ATPase activity
GO:0042803 protein homodimerization activity
GO:0043495 protein anchor
GO:0043531 ADP binding
GO:0045296 cadherin binding
GO:0051015 actin filament binding

Biological Process:
GO:0000212 meiotic spindle organization
GO:0000904 cell morphogenesis involved in differentiation
GO:0001525 angiogenesis
GO:0001701 in utero embryonic development
GO:0001768 establishment of T cell polarity
GO:0006509 membrane protein ectodomain proteolysis
GO:0006911 phagocytosis, engulfment
GO:0007018 microtubule-based movement
GO:0007155 cell adhesion
GO:0007229 integrin-mediated signaling pathway
GO:0007520 myoblast fusion
GO:0008360 regulation of cell shape
GO:0015031 protein transport
GO:0030048 actin filament-based movement
GO:0030220 platelet formation
GO:0030224 monocyte differentiation
GO:0031032 actomyosin structure organization
GO:0031532 actin cytoskeleton reorganization
GO:0032506 cytokinetic process
GO:0032796 uropod organization
GO:0043534 blood vessel endothelial cell migration
GO:0050900 leukocyte migration
GO:0051295 establishment of meiotic spindle localization
GO:0070527 platelet aggregation
GO:0098609 cell-cell adhesion
GO:1903919 negative regulation of actin filament severing
GO:1903923 positive regulation of protein processing in phagocytic vesicle

Cellular Component:
GO:0001725 stress fiber
GO:0001726 ruffle
GO:0001772 immunological synapse
GO:0001931 uropod
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0005819 spindle
GO:0005826 actomyosin contractile ring
GO:0005829 cytosol
GO:0005856 cytoskeleton
GO:0005886 plasma membrane
GO:0005903 brush border
GO:0005913 cell-cell adherens junction
GO:0005925 focal adhesion
GO:0005938 cell cortex
GO:0015629 actin cytoskeleton
GO:0016020 membrane
GO:0016459 myosin complex
GO:0016460 myosin II complex
GO:0030863 cortical cytoskeleton
GO:0031252 cell leading edge
GO:0031594 neuromuscular junction
GO:0032154 cleavage furrow
GO:0032991 macromolecular complex
GO:0042641 actomyosin
GO:0070062 extracellular exosome
GO:0097513 myosin II filament
GO:0008180 COP9 signalosome
GO:0008305 integrin complex


-  Descriptions from all associated GenBank mRNAs
  AB290175 - Homo sapiens mRNA for MYH9 variant protein, complete cds.
AK025219 - Homo sapiens cDNA: FLJ21566 fis, clone COL06467.
BC111387 - Homo sapiens cDNA clone IMAGE:5575059.
AK025393 - Homo sapiens cDNA: FLJ21740 fis, clone COLF4800, highly similar to HUMMYONM Human nonmuscle myosin heavy chain (NMHC) mRNA.
M31013 - Human nonmuscle myosin heavy chain (NMHC) mRNA, 3' end.
AK131080 - Homo sapiens mRNA for FLJ00279 protein.
AB191263 - Homo sapiens MYH9 mRNA for non-muscle myosin heavy polypeptide 9, complete cds.
AL832639 - Homo sapiens mRNA; cDNA DKFZp451J0218 (from clone DKFZp451J0218); complete cds.
BC011915 - Homo sapiens myosin, heavy polypeptide 9, non-muscle, mRNA (cDNA clone IMAGE:4309779), partial cds.
AK304840 - Homo sapiens cDNA FLJ57040 complete cds, highly similar to Myosin-9.
CR456526 - Homo sapiens MYH9 full length open reading frame (ORF) cDNA clone (cDNA clone C22ORF:pGEM.MYH9).
BC150169 - Synthetic construct Homo sapiens clone IMAGE:100000383, MGC:164692 myosin, heavy chain 9, non-muscle (MYH9) mRNA, encodes complete protein.
CU013126 - Homo sapiens MYH9, mRNA (cDNA clone IMAGE:100000383), complete cds, with stop codon, in Gateway system.
AB384358 - Synthetic construct DNA, clone: pF1KSDB0014, Homo sapiens MYH9 gene for myosin-9, complete cds, without stop codon, in Flexi system.
BC150170 - Synthetic construct Homo sapiens clone IMAGE:100000287, MGC:164699 myosin, heavy chain 9, non-muscle (MYH9) mRNA, encodes complete protein.
CU013414 - Homo sapiens MYH9, mRNA (cDNA clone IMAGE:100000287), complete cds, without stop codon, in Gateway system.
BC049849 - Homo sapiens myosin, heavy chain 9, non-muscle, mRNA (cDNA clone IMAGE:5563109), partial cds.
M81105 - Homo sapiens MYH9 (cellular myosin heavy chain) mRNA, 5' end.
D11393 - Homo sapiens mRNA for non-muscle myosin heavy chain.
AK291609 - Homo sapiens cDNA FLJ77145 partial cds, highly similar to Homo sapiens myosin, heavy polypeptide 9, non-muscle (MYH9), mRNA.
M69180 - Human nonmuscle myosin heavy chain-A (MYH9) mRNA, 5' end.
L29141 - Homo sapiens myosin mRNA, partial cds.
BC090921 - Homo sapiens myosin, heavy chain 9, non-muscle, mRNA (cDNA clone IMAGE:4824642), complete cds.
HQ326701 - Homo sapiens MYH9/USP6 fusion protein mRNA, partial cds.
JD536416 - Sequence 517440 from Patent EP1572962.
JD403907 - Sequence 384931 from Patent EP1572962.
JD402093 - Sequence 383117 from Patent EP1572962.
JD361141 - Sequence 342165 from Patent EP1572962.
JD414324 - Sequence 395348 from Patent EP1572962.
JD391237 - Sequence 372261 from Patent EP1572962.
JD449636 - Sequence 430660 from Patent EP1572962.
JD491043 - Sequence 472067 from Patent EP1572962.
JD453019 - Sequence 434043 from Patent EP1572962.
JD408392 - Sequence 389416 from Patent EP1572962.
KJ901588 - Synthetic construct Homo sapiens clone ccsbBroadEn_10982 MYH9 gene, encodes complete protein.
JD109648 - Sequence 90672 from Patent EP1572962.
JD202956 - Sequence 183980 from Patent EP1572962.
JD339022 - Sequence 320046 from Patent EP1572962.
JD150926 - Sequence 131950 from Patent EP1572962.
JD187398 - Sequence 168422 from Patent EP1572962.
JD123335 - Sequence 104359 from Patent EP1572962.
JD322318 - Sequence 303342 from Patent EP1572962.
JD217009 - Sequence 198033 from Patent EP1572962.
JD068653 - Sequence 49677 from Patent EP1572962.
JD190928 - Sequence 171952 from Patent EP1572962.
JD171658 - Sequence 152682 from Patent EP1572962.
JD125929 - Sequence 106953 from Patent EP1572962.
JD137689 - Sequence 118713 from Patent EP1572962.
JD118674 - Sequence 99698 from Patent EP1572962.
JD137971 - Sequence 118995 from Patent EP1572962.
KU159427 - Homo sapiens non-muscle myosin heavy chain 9 (MYH9) mRNA, complete cds.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa04530 - Tight junction
hsa04810 - Regulation of actin cytoskeleton
hsa05416 - Viral myocarditis

Reactome (by CSHL, EBI, and GO)

Protein P35579 (Reactome details) participates in the following event(s):

R-HSA-419197 Myosin regulatory light chain phosphorylation by ROCK
R-HSA-3928616 Activated ROCK phosphorylates MRLCs
R-HSA-5668932 PAK2 phosphorylates myosin regulatory light chain (MRLC)
R-HSA-5668978 MYLK (MLCK) phosphorylates MRLCs of the non-muscle myosin II complex
R-HSA-5671919 Activated CIT phosphorylates MRLCs
R-HSA-419232 Myosin phosphatase dephosphorylates myosin regulatory light chain
R-HSA-2029482 Regulation of actin dynamics for phagocytic cup formation
R-HSA-416572 Sema4D induced cell migration and growth-cone collapse
R-HSA-5627117 RHO GTPases Activate ROCKs
R-HSA-3928663 EPHA-mediated growth cone collapse
R-HSA-5627123 RHO GTPases activate PAKs
R-HSA-5625900 RHO GTPases activate CIT
R-HSA-5625740 RHO GTPases activate PKNs
R-HSA-2029480 Fcgamma receptor (FCGR) dependent phagocytosis
R-HSA-400685 Sema4D in semaphorin signaling
R-HSA-195258 RHO GTPase Effectors
R-HSA-2682334 EPH-Ephrin signaling
R-HSA-168249 Innate Immune System
R-HSA-373755 Semaphorin interactions
R-HSA-194315 Signaling by Rho GTPases
R-HSA-422475 Axon guidance
R-HSA-168256 Immune System
R-HSA-162582 Signal Transduction
R-HSA-1266738 Developmental Biology

-  Other Names for This Gene
  Alternate Gene Symbols: MYH9_HUMAN, NM_002473, NP_002464, O60805, P35579
UCSC ID: uc003apg.1
RefSeq Accession: NM_002473
Protein: P35579 (aka MYH9_HUMAN)
CCDS: CCDS13927.1

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene MYH9:
deafness-overview (Hereditary Hearing Loss and Deafness Overview)
myh9 (MYH9-Related Disease)

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_002473.3
exon count: 41CDS single in 3' UTR: no RNA size: 7474
ORF size: 5883CDS single in intron: no Alignment % ID: 99.99
txCdsPredict score: 11634.00frame shift in genome: no % Coverage: 99.28
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.