Myosin, a structural component of muscle, consists of two heavy chains and four light chains. The protein encoded by this gene is a myosin light chain that may regulate muscle contraction by modulating the ATPase activity of myosin heads. The encoded protein binds calcium and is activated by myosin light chain kinase. Two transcript variants encoding different isoforms have bee... See more...

Aliases for MYL9 Gene

Aliases for MYL9 Gene

  • Myosin Light Chain 9 2 3 5
  • MRLC1 2 3 4
  • MYRL2 2 3 4
  • LC20 2 3 4
  • MLC2 2 3 4
  • Myosin Regulatory Light Chain 2, Smooth Muscle Isoform 2 4
  • Myosin, Light Polypeptide 9, Regulatory 2 3
  • Myosin Regulatory Light Polypeptide 9 3 4
  • Myosin Regulatory Light Chain MRLC1 3 4
  • Myosin, Light Chain 9, Regulatory 2 3
  • Myosin Regulatory Light Chain 1 2 3
  • Myosin Regulatory Light Chain 9 3 4
  • 20 KDa Myosin Light Chain 3 4
  • Myosin RLC 3 4
  • MLC-2C 3 4
  • Epididymis Secretory Sperm Binding Protein 3
  • MYL9 5

External Ids for MYL9 Gene

Previous GeneCards Identifiers for MYL9 Gene

  • GC20P034898
  • GC20P035808
  • GC20P035855
  • GC20P034603
  • GC20P035169
  • GC20P031906

Summaries for MYL9 Gene

Entrez Gene Summary for MYL9 Gene

  • Myosin, a structural component of muscle, consists of two heavy chains and four light chains. The protein encoded by this gene is a myosin light chain that may regulate muscle contraction by modulating the ATPase activity of myosin heads. The encoded protein binds calcium and is activated by myosin light chain kinase. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

GeneCards Summary for MYL9 Gene

MYL9 (Myosin Light Chain 9) is a Protein Coding gene. Diseases associated with MYL9 include Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome and Visceral Myopathy. Among its related pathways are Signaling by GPCR and cGMP-PKG signaling pathway. Gene Ontology (GO) annotations related to this gene include calcium ion binding and structural constituent of muscle. An important paralog of this gene is MYL12B.

UniProtKB/Swiss-Prot Summary for MYL9 Gene

  • Myosin regulatory subunit that plays an important role in regulation of both smooth muscle and nonmuscle cell contractile activity via its phosphorylation. Implicated in cytokinesis, receptor capping, and cell locomotion.

Tocris Summary for MYL9 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 MYL9 Gene

No data available for CIViC Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for MYL9 Gene

Genomics for MYL9 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for MYL9 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around MYL9 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for MYL9

Top Transcription factor binding sites by QIAGEN in the MYL9 gene promoter:
  • E47
  • GATA-1
  • Gfi-1
  • MyoD
  • Olf-1
  • p53
  • Pax-2
  • Pax-2a
  • Tal-1beta
  • XBP-1

Genomic Locations for MYL9 Gene

Latest Assembly
chr20:36,541,497-36,551,447
(GRCh38/hg38)
Size:
9,951 bases
Orientation:
Plus strand

Previous Assembly
chr20:35,169,922-35,179,850
(GRCh37/hg19 by Entrez Gene)
Size:
9,929 bases
Orientation:
Plus strand

chr20:35,169,887-35,178,228
(GRCh37/hg19 by Ensembl)
Size:
8,342 bases
Orientation:
Plus strand

Genomic View for MYL9 Gene

Genes around MYL9 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MYL9 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MYL9 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MYL9 Gene

Proteins for MYL9 Gene

  • Protein details for MYL9 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P24844-MYL9_HUMAN
    Recommended name:
    Myosin regulatory light polypeptide 9
    Protein Accession:
    P24844
    Secondary Accessions:
    • E1P5T6
    • Q9BQL9
    • Q9BUF9
    • Q9H136

    Protein attributes for MYL9 Gene

    Size:
    172 amino acids
    Molecular mass:
    19827 Da
    Quaternary structure:
    • Myosin is a hexamer of 2 heavy chains and 4 light chains: interacts with myosin heavy chain MYO19.
    Miscellaneous:
    • This chain binds calcium.

    Alternative splice isoforms for MYL9 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for MYL9 Gene

Post-translational modifications for MYL9 Gene

  • Phosphorylation increases the actin-activated myosin ATPase activity and thereby regulates the contractile activity. It is required to generate the driving force in the migration of the cells but not necessary for localization of myosin-2 at the leading edge.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for MYL9 Gene

No data available for DME Specific Peptides for MYL9 Gene

Domains & Families for MYL9 Gene

Gene Families for MYL9 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for MYL9 Gene

Suggested Antigen Peptide Sequences for MYL9 Gene

GenScript: Design optimal peptide antigens:
  • Myosin regulatory light chain MRLC1 (MYL9_HUMAN)
  • MYL9 protein (Q6IBG1_HUMAN)
genes like me logo Genes that share domains with MYL9: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for MYL9 Gene

Function for MYL9 Gene

Molecular function for MYL9 Gene

UniProtKB/Swiss-Prot Function:
Myosin regulatory subunit that plays an important role in regulation of both smooth muscle and nonmuscle cell contractile activity via its phosphorylation. Implicated in cytokinesis, receptor capping, and cell locomotion.

Phenotypes From GWAS Catalog for MYL9 Gene

Gene Ontology (GO) - Molecular Function for MYL9 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005509 calcium ion binding IEA --
GO:0005515 protein binding IPI --
GO:0008307 structural constituent of muscle TAS 2526655
GO:0032036 myosin heavy chain binding IEA --
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with MYL9: view
genes like me logo Genes that share phenotypes with MYL9: view

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MYL9

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for MYL9 Gene

Localization for MYL9 Gene

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 MYL9 gene
Compartment Confidence
cytoskeleton 5
cytosol 5
plasma membrane 2
extracellular 2
mitochondrion 2
nucleus 2
endoplasmic reticulum 2
peroxisome 1
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoli fibrillar center (2)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for MYL9 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001725 stress fiber IEA --
GO:0005829 cytosol TAS --
GO:0005859 muscle myosin complex TAS 2526655
GO:0016459 myosin complex IEA --
GO:0016460 myosin II complex IEA --
genes like me logo Genes that share ontologies with MYL9: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for MYL9 Gene

Pathways & Interactions for MYL9 Gene

PathCards logo

SuperPathways for MYL9 Gene

SuperPathway Contained pathways
1 Semaphorin interactions
2 Activation of cAMP-Dependent PKA
.77
.77
.71
.56
3 Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases
.49
.49
.42
.32
4 Actin Nucleation by ARP-WASP Complex
.66
.41
.35
5 PAK Pathway
.56
.56
.36
genes like me logo Genes that share pathways with MYL9: view

Pathways by source for MYL9 Gene

6 GeneGo (Thomson Reuters) pathways for MYL9 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
25 Qiagen pathways for MYL9 Gene
  • Actin Nucleation by ARP-WASP Complex
  • Actin-Based Motility by Rho Family GTPases
  • Activation of cAMP-Dependent PKA
  • Activation of PKA through GPCR
  • Activation of PKC through GPCR
1 Cell Signaling Technology pathway for MYL9 Gene

SIGNOR curated interactions for MYL9 Gene

Is activated by:
Is inactivated by:

Gene Ontology (GO) - Biological Process for MYL9 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006936 muscle contraction TAS --
GO:0006937 regulation of muscle contraction TAS 2526655
GO:0045652 regulation of megakaryocyte differentiation TAS --
GO:0070527 platelet aggregation HMP 23382103
genes like me logo Genes that share ontologies with MYL9: view

Drugs & Compounds for MYL9 Gene

(5) Drugs for MYL9 Gene - From: HMDB, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Calcium Nutra 6959
(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 MYL9 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 MYL9 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 MYL9: view

Transcripts for MYL9 Gene

mRNA/cDNA for MYL9 Gene

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

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MYL9

Alternative Splicing Database (ASD) splice patterns (SP) for MYL9 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4a · 4b ^ 5a · 5b ^ 6a · 6b
SP1: - -
SP2: - - -
SP3: - - - -
SP4: - - - - -
SP5: - -
SP6: - -

Relevant External Links for MYL9 Gene

GeneLoc Exon Structure for
MYL9

Expression for MYL9 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for MYL9 Gene

mRNA differential expression in normal tissues according to GTEx for MYL9 Gene

This gene is overexpressed in Esophagus - Muscularis (x6.1), Artery - Tibial (x5.4), Esophagus - Gastroesophageal Junction (x5.3), and Colon - Sigmoid (x5.3).

Protein differential expression in normal tissues from HIPED for MYL9 Gene

This gene is overexpressed in Colon muscle (24.1) and Colon (7.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for MYL9 Gene



Protein tissue co-expression partners for MYL9 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for MYL9

SOURCE GeneReport for Unigene cluster for MYL9 Gene:

Hs.504687

mRNA Expression by UniProt/SwissProt for MYL9 Gene:

P24844-MYL9_HUMAN
Tissue specificity: Smooth muscle tissues and in some, but not all, nonmuscle cells.

Evidence on tissue expression from TISSUES for MYL9 Gene

  • Intestine(4.1)
  • Muscle(4)
  • Heart(3.8)
  • Eye(3.8)
  • Lung(3.6)
  • Stomach(3.4)
  • Nervous system(3.4)
  • Skin(3.3)
  • Bone(3.1)
  • Kidney(2.9)
  • Gall bladder(2.8)
  • Adrenal gland(2.7)
  • Spleen(2.5)
  • Thyroid gland(2.5)
  • Liver(2.4)
  • Pancreas(2.4)
  • Blood(2.4)
  • Lymph node(2.3)
genes like me logo Genes that share expression patterns with MYL9: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and Phenotype-based relationships between genes and organs from Gene ORGANizer for MYL9 Gene

Orthologs for MYL9 Gene

This gene was present in the common ancestor of animals.

Orthologs for MYL9 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia MYL9 29 30
  • 99.81 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia MYL9 29 30
  • 93.02 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia MYL9 29 30
  • 93.02 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Myl9 29 16 30
  • 92.05 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia MYL9 30
  • 92 (a)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Myl9 29
  • 91.03 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia MYL9 30
  • 89 (a)
OneToOne
Chicken
(Gallus gallus)
Aves MYL9 29 30
  • 88.18 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia MYL9 30
  • 99 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia myl9 29
  • 84.88 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.11918 29
Zebrafish
(Danio rerio)
Actinopterygii myl9a 30
  • 92 (a)
OneToMany
myl9b 29 30
  • 83.33 (n)
OneToMany
wufa10d12 29
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.8988 29
Fruit Fly
(Drosophila melanogaster)
Insecta sqh 30 31
  • 80 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea mlc-4 30
  • 71 (a)
OneToMany
mlc-1 31
  • 48 (a)
mlc-2 31
  • 48 (a)
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.5139 30
  • 80 (a)
OneToMany
Species where no ortholog for MYL9 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • 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 Vase (Ciona intestinalis)
  • 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 MYL9 Gene

ENSEMBL:
Gene Tree for MYL9 (if available)
TreeFam:
Gene Tree for MYL9 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for MYL9: view image
Alliance of Genome Resources:
Additional Orthologs for MYL9

Paralogs for MYL9 Gene

Paralogs for MYL9 Gene

(21) SIMAP similar genes for MYL9 Gene using alignment to 2 proteins:

  • MYL9_HUMAN
  • Q6IBG1_HUMAN

Pseudogenes.org Pseudogenes for MYL9 Gene

genes like me logo Genes that share paralogs with MYL9: view

Variants for MYL9 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for MYL9 Gene

SNP ID Clinical significance and condition Chr 20 pos Variation AA Info Type
rs1569529545 Uncertain Significance: Visceral myopathy 36,545,063(+) CGCTGGGTGA/C
NM_006097.5(MYL9):c.184+2_184+10del
SPLICE_DONOR

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for MYL9 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for MYL9 Gene

Variant ID Type Subtype PubMed ID
esv3645738 CNV loss 21293372
nsv1057192 CNV loss 25217958
nsv833967 CNV loss 17160897

Variation tolerance for MYL9 Gene

Residual Variation Intolerance Score: 32% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.41; 9.06% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for MYL9 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
MYL9
Leiden Open Variation Database (LOVD)
MYL9

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MYL9 Gene

Disorders for MYL9 Gene

MalaCards: The human disease database

(8) MalaCards diseases for MYL9 Gene - From: COP and GCD

- elite association - COSMIC cancer census association via MalaCards
Search MYL9 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for MYL9

genes like me logo Genes that share disorders with MYL9: view

No data available for UniProtKB/Swiss-Prot and Genatlas for MYL9 Gene

Publications for MYL9 Gene

  1. Characterization and differential expression of human vascular smooth muscle myosin light chain 2 isoform in nonmuscle cells. (PMID: 2526655) Kumar CC … Leibowitz PJ (Biochemistry 1989) 2 3 4
  2. MAL/SRF complex is involved in platelet formation and megakaryocyte migration by regulating MYL9 (MLC2) and MMP9. (PMID: 19724058) Gilles L … Raslova H (Blood 2009) 3 22
  3. The E22K mutation of myosin RLC that causes familial hypertrophic cardiomyopathy increases calcium sensitivity of force and ATPase in transgenic mice. (PMID: 16076902) Szczesna-Cordary D … Diaz-Perez Z (Journal of cell science 2005) 3 22
  4. The DNA sequence and comparative analysis of human chromosome 20. (PMID: 11780052) Deloukas P … Rogers J (Nature 2001) 3 4
  5. Diphosphorylated MRLC is required for organization of stress fibers in interphase cells and the contractile ring in dividing cells. (PMID: 11942626) Iwasaki T … Hosoya H (Cell structure and function 2001) 3 4

Products for MYL9 Gene

Sources for MYL9 Gene