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
External Ids for MYH9 Gene
- HGNC: 7579
- Entrez Gene: 4627
- Ensembl: ENSG00000100345
- OMIM: 160775
- UniProtKB: P35579
Previous HGNC Symbols for MYH9 Gene
- DFNA17
Previous GeneCards Identifiers for MYH9 Gene
- GC22M033322
- GC22M034949
- GC22M035001
- GC22M036677
- GC22M019645
Summaries 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.
-
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.
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
Regulatory Element Products
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:
-
- 22q12.3 by Ensembl
- 22q12.3 by Entrez Gene
- 22q12.3 by HGNC
MYH9 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- 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
Protein Expression 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
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- EMD Millipore Complete listing of Mono and Polychlonal Antibodies for MYH9
- Cell Signaling Technology (CST) Antibodies for MYH9 (MYH9)
-
Custom Antibody ServicesOriGene Antibodies for MYH9
- Novus Biologicals Antibodies for MYH9
-
Abcam antibodies for MYH9
- Invitrogen Antibodies for MYH9
- antibodies-online Antibodies for MYH9: See all 100
- GeneTex MYH9 antibody for MYH9
Protein Products
- Search Origene for Purified Proteins, MassSpec and Protein Over-expression Lysates for MYH9
- Origene Custom Protein Services for MYH9
- Novus Biologicals proteins for MYH9
- antibodies-online Proteins for MYH9: See all 8
- Search antibodies-online for peptides
- Search GeneTex for Proteins for MYH9
-
Abcam proteins for MYH9
Assay Products
- antibodies-online Kits for MYH9: See all 14
No data available for DME Specific Peptides for MYH9 Gene
Domains & Families for MYH9 Gene
Gene Families for MYH9 Gene
Protein Domains for MYH9 Gene
Suggested Antigen Peptide Sequences for MYH9 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
P35579UniProtKB/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.
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.
| 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 |
Phenotypes for MYH9 Gene
- MGI mutant phenotypes for MYH9:
-
inferred from 17 alleles
- mortality/aging
- cellular phenotype
- normal phenotype
- growth/size/body region phenotype
- immune system phenotype
- nervous system phenotype
- homeostasis/metabolism phenotype
- cardiovascular system phenotype
- vision/eye phenotype
- hearing/vestibular/ear phenotype
- embryo phenotype
- hematopoietic system phenotype
- renal/urinary system phenotype
- no phenotypic analysis
- GenomeRNAi human phenotypes for MYH9:
-
- shRNA abundance <= 50%
- Lamellipodia cells
- Decreased viability in esophageal squamous lineage
- Dynamic nuclei (hole, folded or small irregular)
- Increased transferrin (TF) endocytosis
- Negative genetic interaction between PTEN-/- and PTEN+/+
- Decreased shRNA abundance (Z-score < -2)
- Increased shRNA abundance (Z-score > 2)
- Effect on mitosis
- Decreased focal adhesion (FA) area, decreased FA length, decreased FA mean intensity, increased number of small and round FAs, increased FA abundance
- Negative genetic interaction between BLM-/- and BLM+/+
Animal Models for MYH9 Gene
Animal Model Products
-
Taconic Biosciences Mouse Models for MYH9
- Cyagen custom Knockout/knockin (KOKI) mouse models for MYH9
-
-
ViGene Biosciences lentiviral particle packaged cDNA for MYH9 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for MYH9 gene
- Search ViGene Biosciences for MYH9
CRISPR Products
-
OriGene CRISPR knockouts for MYH9
-
Santa Cruz Biotechnology (SCBT) CRISPR for MYH9
- GenScript: Design CRISPR guide RNA sequences for MYH9
miRNA for MYH9 Gene
- miRTarBase miRNAs that target MYH9
-
- hsa-mir-124-3p (MIRT002579)
- hsa-mir-9-5p (MIRT021471)
- hsa-mir-1296-5p (MIRT036109)
- hsa-mir-877-3p (MIRT037181)
- hsa-mir-193b-3p (MIRT041494)
- hsa-mir-484 (MIRT042190)
- hsa-mir-324-3p (MIRT042922)
- hsa-mir-331-3p (MIRT043426)
- hsa-mir-149-5p (MIRT045466)
- hsa-mir-92a-3p (MIRT049384)
- hsa-let-7f-5p (MIRT053474)
- hsa-mir-4329 (MIRT448084)
- hsa-mir-4524a-3p (MIRT448085)
- hsa-mir-4538 (MIRT448086)
- hsa-mir-4453 (MIRT448087)
- hsa-mir-6507-5p (MIRT448088)
- hsa-mir-490-3p (MIRT448089)
- hsa-mir-5589-5p (MIRT608729)
- hsa-mir-4731-5p (MIRT608730)
- hsa-mir-150-5p (MIRT608731)
- hsa-mir-186-3p (MIRT608732)
- hsa-mir-520h (MIRT608733)
- hsa-mir-520g-3p (MIRT608734)
- hsa-mir-512-3p (MIRT608735)
- hsa-mir-520e (MIRT608736)
- hsa-mir-520d-3p (MIRT608737)
- hsa-mir-520c-3p (MIRT608738)
- hsa-mir-520b (MIRT608739)
- hsa-mir-520a-3p (MIRT608740)
- hsa-mir-373-3p (MIRT608741)
- hsa-mir-372-3p (MIRT608742)
- hsa-mir-302e (MIRT608743)
- hsa-mir-302d-3p (MIRT608744)
- hsa-mir-302c-3p (MIRT608745)
- hsa-mir-302b-3p (MIRT608746)
- hsa-mir-302a-3p (MIRT608747)
- hsa-mir-93-5p (MIRT608748)
- hsa-mir-526b-3p (MIRT608749)
- hsa-mir-519d-3p (MIRT608750)
- hsa-mir-20b-5p (MIRT608751)
- hsa-mir-20a-5p (MIRT608752)
- hsa-mir-17-5p (MIRT608753)
- hsa-mir-106b-5p (MIRT608754)
- hsa-mir-106a-5p (MIRT608755)
- hsa-mir-6821-5p (MIRT630377)
- hsa-mir-6513-5p (MIRT630378)
- hsa-mir-887-5p (MIRT630379)
- hsa-mir-3913-5p (MIRT630380)
- hsa-mir-3122 (MIRT630381)
- hsa-mir-450a-1-3p (MIRT630382)
- hsa-mir-6779-5p (MIRT630383)
- hsa-mir-6780a-5p (MIRT630384)
- hsa-mir-3689c (MIRT630385)
- hsa-mir-3689b-3p (MIRT630386)
- hsa-mir-3689a-3p (MIRT630387)
- hsa-mir-30b-3p (MIRT630388)
- hsa-mir-1273h-5p (MIRT630389)
- hsa-mir-6788-5p (MIRT630390)
- hsa-mir-30c-2-3p (MIRT630391)
- hsa-mir-30c-1-3p (MIRT630392)
- hsa-mir-7977 (MIRT630393)
- hsa-mir-6799-5p (MIRT630394)
- hsa-mir-6883-5p (MIRT630395)
- hsa-mir-6785-5p (MIRT630396)
- hsa-mir-4728-5p (MIRT630397)
- hsa-mir-149-3p (MIRT630398)
- hsa-mir-7106-5p (MIRT630399)
- hsa-mir-24-3p (MIRT630400)
- hsa-mir-4284 (MIRT630401)
- hsa-mir-4267 (MIRT630402)
- hsa-mir-5196-5p (MIRT667321)
- hsa-mir-4747-5p (MIRT667322)
- hsa-mir-671-5p (MIRT667323)
- hsa-mir-338-3p (MIRT667324)
- hsa-mir-7157-5p (MIRT667325)
- hsa-mir-4310 (MIRT667326)
- hsa-mir-665 (MIRT701652)
- hsa-mir-1305 (MIRT701653)
- hsa-mir-7160-5p (MIRT701654)
- hsa-mir-4722-5p (MIRT701655)
- hsa-mir-1827 (MIRT701656)
- hsa-mir-15b-3p (MIRT701657)
- hsa-mir-4649-3p (MIRT701658)
- hsa-mir-4478 (MIRT701659)
- hsa-mir-4768-3p (MIRT701660)
- hsa-mir-4419b (MIRT701661)
- hsa-mir-3929 (MIRT701662)
- hsa-mir-940 (MIRT701663)
- hsa-mir-6893-5p (MIRT701664)
- hsa-mir-6808-5p (MIRT701665)
miRNA Products
- Search ViGene Biosciences for MYH9
Inhibitory RNA Products
- Origene RNAi, siRNA, and shRNA products in human, mouse, rat for MYH9
- Browse OriGene Inhibitory RNA Products For MYH9
-
ViGene Biosciences ready-to-package AAV shRNAs for MYH9 gene
Clone Products
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- Addgene plasmids for MYH9
- VectorBuilder custom plasmid, inducible vectors for MYH9
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for MYH9
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Cell Line Products
-
Horizon Cell Lines for MYH9
-
ViGene Biosciences adenoviral particle packaged cDNA for MYH9 gene
-
ViGene Biosciences lentiviral particle packaged cDNA for MYH9 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for MYH9 gene
Flow Cytometry Products
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}.
| Compartment | Confidence |
|---|---|
| plasma membrane | 5 |
| extracellular | 5 |
| cytoskeleton | 5 |
| nucleus | 5 |
| cytosol | 5 |
| golgi apparatus | 1 |
| 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 |
Pathways & Interactions for MYH9 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Semaphorin interactions | ||
| 2 | Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases | ||
| 3 | PAK Pathway |
.56
|
|
| 4 | Actin Nucleation by ARP-WASP Complex |
.35
|
|
| 5 | RhoGDI Pathway |
.33
|
|
Pathways by source for MYH9 Gene
1 Cell Signaling Technology pathway for MYH9 Gene
1 BioSystems pathway for MYH9 Gene
18 Reactome pathways for MYH9 Gene
3 KEGG pathways for MYH9 Gene
6 GeneGo (Thomson Reuters) pathways for MYH9 Gene
Interacting Proteins for MYH9 Gene
Selected Interacting proteins:
ENSP00000216181
P35579-MYH9_HUMAN
for MYH9 Gene via
STRING
MINT
IID
UniProtKB
| 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 | -- |
Drugs & Compounds for MYH9 Gene
| 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 |
| 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 |
Transcripts for MYH9 Gene
mRNA/cDNA for MYH9 Gene
- (6) REFSEQ mRNAs :
- (20) Additional mRNA sequences :
- (1191) Selected AceView cDNA sequences:
- (11) Ensembl transcripts including schematic representations, and UCSC links where relevant :
Unigene Clusters for MYH9 Gene
CRISPR Products
-
OriGene CRISPR knockouts for MYH9
-
Santa Cruz Biotechnology (SCBT) CRISPR for MYH9
- GenScript: Design CRISPR guide RNA sequences for MYH9
miRNA Products
- Search ViGene Biosciences for MYH9
Inhibitory RNA Products
- Origene RNAi, siRNA, and shRNA products in human, mouse, rat for MYH9
- Browse OriGene Inhibitory RNA Products For MYH9
-
ViGene Biosciences ready-to-package AAV shRNAs for MYH9 gene
Clone Products
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- Addgene plasmids for MYH9
- VectorBuilder custom plasmid, inducible vectors for MYH9
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for MYH9
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Flow Cytometry Products
| 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: | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
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| SP4: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP5: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP6: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
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| 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: | - | - | - | - | - | ||||||||||||||||||||||||
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Expression for MYH9 Gene
mRNA differential expression in normal tissues according to GTEx for MYH9 Gene
This gene is overexpressed in Artery - Aorta (x4.9).
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:
MYH9SOURCE GeneReport for Unigene cluster for MYH9 Gene:
Hs.474751mRNA 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
Primer Products
-
OriGene qPCR primer pairs for MYH9
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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | MYH9 34 35 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | MYH9 35 |
|
OneToOne | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | MYH9 35 |
|
OneToOne | |
| dog (Canis familiaris) |
Mammalia | MYH9 34 35 |
|
||
| cow (Bos Taurus) |
Mammalia | MYH9 34 35 |
|
||
| mouse (Mus musculus) |
Mammalia | Myh9 34 16 35 |
|
||
| rat (Rattus norvegicus) |
Mammalia | LOC100911597 34 |
|
||
| chicken (Gallus gallus) |
Aves | MYH9 34 35 |
|
||
| lizard (Anolis carolinensis) |
Reptilia | MYH9 35 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | myh9 34 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | myh9b 35 |
|
OneToMany | |
| myh9a 34 35 |
|
||||
| -- 34 |
|
||||
| rainbow trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.10217 34 |
|
||
| fruit fly (Drosophila melanogaster) |
Insecta | zip 36 35 |
|
||
| worm (Caenorhabditis elegans) |
Secernentea | nmy-1 36 35 |
|
||
| nmy-2 35 |
|
ManyToMany | |||
| F45G2.2 36 |
|
|
|||
| Y11D7A.14 36 |
|
|
|||
| hcp-2 36 |
|
|
|||
| hcp-1 36 |
|
|
|||
| C02F12.7 36 |
|
|
|||
| baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | MYO1 35 |
|
OneToMany | |
| bread mold (Neurospora crassa) |
Ascomycetes | NCU00551 34 |
|
||
| fission yeast (Schizosaccharomyces pombe) |
Schizosaccharomycetes | myp2 34 |
|
- 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)
Paralogs for MYH9 Gene
(39) SIMAP similar genes for MYH9 Gene using alignment to 5 proteins:
Pseudogenes.org Pseudogenes for MYH9 Gene
Variants 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 |
| 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 |
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
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MYH9 Gene
Disorders for MYH9 Gene
(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 |
|
|
| epstein syndrome |
|
|
| may-hegglin anomaly |
|
|
| deafness, autosomal dominant 17 |
|
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
No data available for Genatlas for MYH9 Gene
Publications for MYH9 Gene
- 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
- 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
- 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
- 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
- The association of the MYH9 gene and kidney outcomes in American Indians: the Strong Heart Family Study. (PMID: 19921264) Franceschini N. … Cole S.A. (Hum. Genet. 2010) 3 22 46 64
Products for MYH9 Gene
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- Taconic Biosciences Mouse Models for MYH9
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- ViGene Biosciences adenoviral particle packaged cDNA for MYH9 gene
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- VectorBuilder custom plasmid, inducible vectors for MYH9
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- VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Sources for MYH9 Gene
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