MYL12B Gene (Protein Coding)

Myosin Light Chain 12B

GC18P003261
GIFtS:
38
The activity of nonmuscle myosin II (see MYH9; MIM 160775) is regulated by phosphorylation of a regulatory light chain, such as MRLC2. This phosphorylation results in higher MgATPase activity and the assembly of myosin II filaments (Iwasaki et al., 2001 [PubMed 11942626]).[supplied by OMIM, Mar 2008] See more...

Aliases for MYL12B Gene

Aliases for MYL12B Gene

  • Myosin Light Chain 12B 2 3 5
  • MRLC2 2 3 4
  • Myosin Regulatory Light Chain 2-B, Smooth Muscle Isoform 3 4
  • Myosin Regulatory Light Chain 20 KDa 3 4
  • Myosin, Light Chain 12B, Regulatory 2 3
  • Myosin Regulatory Light Chain MRLC2 3 4
  • Myosin Regulatory Light Chain 12B 3 4
  • Myosin Regulatory Light Chain 2 2 3
  • SHUJUN-1 3 4
  • MLC-2A 3 4
  • MLC-2 3 4
  • MLC20 3 4
  • MYL12B 5
  • MYLC2B 4
  • MLC-B 3

External Ids for MYL12B Gene

Previous GeneCards Identifiers for MYL12B Gene

  • GC18P003254

Summaries for MYL12B Gene

Entrez Gene Summary for MYL12B Gene

  • The activity of nonmuscle myosin II (see MYH9; MIM 160775) is regulated by phosphorylation of a regulatory light chain, such as MRLC2. This phosphorylation results in higher MgATPase activity and the assembly of myosin II filaments (Iwasaki et al., 2001 [PubMed 11942626]).[supplied by OMIM, Mar 2008]

GeneCards Summary for MYL12B Gene

MYL12B (Myosin Light Chain 12B) is a Protein Coding gene. Diseases associated with MYL12B include Primary Cutaneous Amyloidosis and Myopathy, Centronuclear, 2. Among its related pathways are Signaling by GPCR and Blood-Brain Barrier and Immune Cell Transmigration: VCAM-1/CD106 Signaling. Gene Ontology (GO) annotations related to this gene include calcium ion binding. An important paralog of this gene is MYL12A.

UniProtKB/Swiss-Prot Summary for MYL12B Gene

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

Additional gene information for MYL12B Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for MYL12B Gene

Genomics for MYL12B Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for MYL12B 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 MYL12B on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for MYL12B

Top Transcription factor binding sites by QIAGEN in the MYL12B gene promoter:
  • C/EBPbeta
  • HNF-4alpha1
  • LCR-F1
  • Sox5

Genomic Locations for MYL12B Gene

Genomic Locations for MYL12B Gene
chr18:3,261,479-3,278,461
(GRCh38/hg38)
Size:
16,983 bases
Orientation:
Plus strand
chr18:3,261,907-3,278,282
(GRCh37/hg19)
Size:
16,376 bases
Orientation:
Plus strand

Genomic View for MYL12B Gene

Genes around MYL12B on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MYL12B Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MYL12B Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for MYL12B Gene

Proteins for MYL12B Gene

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  • Protein details for MYL12B Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O14950-ML12B_HUMAN
    Recommended name:
    Myosin regulatory light chain 12B
    Protein Accession:
    O14950
    Secondary Accessions:
    • D3DUH6
    • Q13182
    • Q7Z5Z4

    Protein attributes for MYL12B Gene

    Size:
    172 amino acids
    Molecular mass:
    19779 Da
    Quaternary structure:
    • Myosin is a hexamer of 2 heavy chains and 4 light chains: interacts with myosin heavy chain MYO19.
    SequenceCaution:
    • Sequence=AAP73808.1; Type=Frameshift; Evidence={ECO:0000305};
    Miscellaneous:
    • This chain binds calcium.

neXtProt entry for MYL12B Gene

Protein Expression for MYL12B Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for MYL12B 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. Phosphorylation is reduced following epigallocatechin-3-O-gallate treatment.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for MYL12B Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for MYL12B Gene

Domains & Families for MYL12B Gene

Gene Families for MYL12B Gene

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

Protein Domains for MYL12B Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for MYL12B Gene

GenScript: Design optimal peptide antigens:
  • SHUJUN-1 (ML12B_HUMAN)
genes like me logo Genes that share domains with MYL12B: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for MYL12B Gene

Function for MYL12B Gene

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Molecular function for MYL12B 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. Phosphorylation triggers actin polymerization in vascular smooth muscle. Implicated in cytokinesis, receptor capping, and cell locomotion.

Phenotypes From GWAS Catalog for MYL12B Gene

Gene Ontology (GO) - Molecular Function for MYL12B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005509 calcium ion binding IEA --
GO:0005515 protein binding IPI 19328794
GO:0032036 myosin heavy chain binding IEA --
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with MYL12B: view
genes like me logo Genes that share phenotypes with MYL12B: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

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No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for MYL12B Gene

Localization for MYL12B 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 MYL12B gene
Compartment Confidence
cytosol 5
extracellular 4
cytoskeleton 4
plasma membrane 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 MYL12B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001725 stress fiber IEA --
GO:0005829 cytosol TAS --
GO:0005903 brush border IEA --
GO:0016459 myosin complex IEA --
GO:0016460 myosin II complex IEA --
genes like me logo Genes that share ontologies with MYL12B: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for MYL12B Gene

Pathways & Interactions for MYL12B Gene

PathCards logo

SuperPathways for MYL12B Gene

SuperPathway Contained pathways
1 Semaphorin interactions
Sema4D in semaphorin signaling
.89
Sema4D induced cell migration and growth-cone collapse
.89
RHO GTPases Activate ROCKs
.52
RHO GTPases activate CIT
.42
Semaphorin interactions
.40
RHO GTPases activate PAKs
.38
2 Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases
Cell adhesion Integrin-mediated cell adhesion and migration
.49
Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases
.49
Development MAG-dependent inhibition of neurite outgrowth
.42
Cell adhesion Tight junctions
.32
3 Developmental Biology
Axon guidance
.51
Developmental Biology
.51
4 Signaling by Rho GTPases
RHO GTPase Effectors
.69
Signaling by Rho GTPases
.69
5 Immune response CCR3 signaling in eosinophils
Immune response CCR3 signaling in eosinophils
.51
Inhibitory action of Lipoxins on neutrophil migration
.51
genes like me logo Genes that share pathways with MYL12B: view

Pathways by source for MYL12B Gene

1 BioSystems pathway for MYL12B Gene
6 GeneGo (Thomson Reuters) pathways for MYL12B 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

SIGNOR curated interactions for MYL12B Gene

Is activated by:

Gene Ontology (GO) - Biological Process for MYL12B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006936 muscle contraction TAS --
GO:0008360 regulation of cell shape IEA --
genes like me logo Genes that share ontologies with MYL12B: view

Drugs & Compounds for MYL12B Gene

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  1. Drug

(1) Drugs for MYL12B Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Calcium Nutra 6556
genes like me logo Genes that share compounds with MYL12B: view

Transcripts for MYL12B Gene

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mRNA/cDNA for MYL12B Gene

4 REFSEQ mRNAs :
11 NCBI additional mRNA sequence :
5 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 MYL12B

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for MYL12B Gene

No ASD Table

Relevant External Links for MYL12B Gene

GeneLoc Exon Structure for
MYL12B

Expression for MYL12B Gene

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  1. Primer
  2. Gene Expression Assay

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for MYL12B Gene

mRNA expression in normal human tissues for MYL12B Gene
mRNA expression by BioGPS for MYL12B GenemRNA expression by GTEx for MYL12B Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for MYL12B Gene

This gene is overexpressed in Lavage (27.1), Bone marrow mesenchymal stem cell (10.3), Testis (7.0), Brain (6.3), and Fetal ovary (6.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for MYL12B Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for MYL12B

SOURCE GeneReport for Unigene cluster for MYL12B Gene:

Hs.464472

mRNA Expression by UniProt/SwissProt for MYL12B Gene:

O14950-ML12B_HUMAN
Tissue specificity: Ubiquitously expressed in various hematopoietic cells.

Evidence on tissue expression from TISSUES for MYL12B Gene

  • Nervous system(4.8)
  • Skin(4.6)
  • Liver(4.6)
  • Muscle(3.8)
  • Lung(3.6)
  • Heart(3.5)
  • Blood(3.1)
  • Kidney(3.1)
  • Pancreas(3.1)
  • Intestine(3)
  • Thyroid gland(2.9)
  • Stomach(2.8)
  • Eye(2.7)
  • Gall bladder(2.7)
  • Spleen(2.7)
  • Adrenal gland(2.6)
  • Lymph node(2.6)
  • Bone marrow(2.6)
genes like me logo Genes that share expression patterns with MYL12B: view

No data available for mRNA differential expression in normal tissues , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for MYL12B Gene

Orthologs for MYL12B Gene

This gene was present in the common ancestor of animals.

Orthologs for MYL12B Gene

Organism Taxonomy Gene Similarity Type Details
Oppossum
(Monodelphis domestica)
 Mammalia MYL12B 31
  • 100 (a)
 OneToOne
Mouse
(Mus musculus)
 Mammalia Myl12b 31
  • 100 (a)
 OneToOne
Myl12a 30 17
  • 86.43 (n)
Chimpanzee
(Pan troglodytes)
 Mammalia MYL12B 30 31
  • 99.81 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia MYL12B 31
  • 99 (a)
 OneToOne
MYL12A 30
  • 90.12 (n)
Dog
(Canis familiaris)
 Mammalia MYL12B 31
  • 99 (a)
 OneToOne
MYL12A 30
  • 92.25 (n)
Platypus
(Ornithorhynchus anatinus)
 Mammalia -- 31
  • 94 (a)
 OneToMany
Rat
(Rattus norvegicus)
 Mammalia Myl12a 30
  • 87.02 (n)
Chicken
(Gallus gallus)
 Aves -- 31
  • 99 (a)
 ManyToMany
LOC770011 30
  • 86.43 (n)
Lizard
(Anolis carolinensis)
 Reptilia -- 31
  • 97 (a)
 ManyToMany
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia myl12b 30
  • 81.98 (n)
Zebrafish
(Danio rerio)
 Actinopterygii myl12.1 31
  • 92 (a)
 ManyToMany
myl12.2 30 31
  • 79.84 (n)
 ManyToMany
Fruit Fly
(Drosophila melanogaster)
 Insecta sqh 30 31
  • 75.53 (n)
 OneToMany
African malaria mosquito
(Anopheles gambiae)
 Insecta AgaP_AGAP000927 30
  • 73.63 (n)
Worm
(Caenorhabditis elegans)
 Secernentea mlc-4 30 31
  • 70.46 (n)
 OneToMany
Sea Squirt
(Ciona savignyi)
 Ascidiacea CSA.5139 31
  • 80 (a)
 OneToMany
Species where no ortholog for MYL12B was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • Rainbow Trout (Oncorhynchus mykiss)
  • 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 MYL12B Gene

ENSEMBL:
Gene Tree for MYL12B (if available)
TreeFam:
Gene Tree for MYL12B (if available)
Aminode:
Evolutionary constrained regions (ECRs) for MYL12B: view image

Paralogs for MYL12B Gene

Paralogs for MYL12B Gene

(20) SIMAP similar genes for MYL12B Gene using alignment to 1 proteins:

  • ML12B_HUMAN

Pseudogenes.org Pseudogenes for MYL12B Gene

genes like me logo Genes that share paralogs with MYL12B: view

Variants for MYL12B Gene

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Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for MYL12B Gene

SNP ID Clinical significance and condition Chr 18 pos Variation AA Info Type
rs14720 - p.Glu141Gly

Additional dbSNP identifiers (rs#s) for MYL12B Gene

Structural Variations from Database of Genomic Variants (DGV) for MYL12B Gene

Variant ID Type Subtype PubMed ID
esv1749261 CNV insertion 17803354
esv3428683 CNV insertion 20981092
esv3435715 CNV insertion 20981092
esv3641584 CNV loss 21293372
esv3641585 CNV gain 21293372
esv3641586 CNV gain 21293372
esv3641589 CNV gain 21293372
esv3641590 CNV loss 21293372
nsv1062247 CNV gain 25217958
nsv1123153 CNV deletion 24896259
nsv131953 CNV insertion 16902084
nsv962482 CNV duplication 23825009

Variation tolerance for MYL12B Gene

Residual Variation Intolerance Score: 47.3% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for MYL12B Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
MYL12B

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MYL12B Gene

Disorders for MYL12B Gene

MalaCards: The human disease database

(2) MalaCards diseases for MYL12B Gene - From: DISEASES

Disorder Aliases PubMed IDs
primary cutaneous amyloidosis
  • pca
myopathy, centronuclear, 2
  • cnm2
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for MYL12B

Genetic Association Database
(GAD)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with MYL12B: view

No data available for UniProtKB/Swiss-Prot and Genatlas for MYL12B Gene

Publications for MYL12B Gene

  1. 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) 2 3 4
  2. Epigallocatechin-3-O-gallate disrupts stress fibers and the contractile ring by reducing myosin regulatory light chain phosphorylation mediated through the target molecule 67 kDa laminin receptor. (PMID: 15946647) Umeda D … Yamada K (Biochemical and biophysical research communications 2005) 3 4
  3. A reference map of the human binary protein interactome. (PMID: 32296183) Luck K … Calderwood MA (Nature 2020) 3
  4. PLEKHA4/kramer Attenuates Dishevelled Ubiquitination to Modulate Wnt and Planar Cell Polarity Signaling. (PMID: 31091453) Shami Shah A … Baskin JM (Cell reports 2019) 3
  5. The HIV-1 Tat protein recruits a ubiquitin ligase to reorganize the 7SK snRNP for transcriptional activation. (PMID: 29845934) Faust TB … Frankel AD (eLife 2018) 3

ExternalLinks

View latest publications for MYL12B gene in Mastermind

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