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Aliases for MYL12B Gene

Aliases for MYL12B Gene

  • Myosin Light Chain 12B 2 3 5
  • 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 2 2 3
  • SHUJUN-1 3 4
  • MLC-2A 3 4
  • MLC-2 3 4
  • MLC20 3 4
  • MRLC2 3 4
  • Myosin Regulatory Light Chain 12B 3
  • 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. Among its related pathways are Semaphorin interactions and Focal Adhesion. GO annotations related to this gene include calcium ion binding. An important paralog of this gene is MYL12A.

UniProtKB/Swiss-Prot 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 , fRNAdb sequence ontologies and piRNA Summary for MYL12B Gene

Genomics for MYL12B Gene

Regulatory Elements for MYL12B Gene

Enhancers for MYL12B 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
GH18H003245 2.1 FANTOM5 Ensembl ENCODE dbSUPER 15 -5.8 -5828 22 ZFP64 FEZF1 DMAP1 YBX1 YY1 SLC30A9 ZNF143 SP3 ZC3H11A MEF2D METTL4 CBX3P2 MYOM1 LOC104968399 LOC101927044 MYL12B MYL12A LPIN2 EMILIN2 SMCHD1
GH18H003615 2.1 FANTOM5 Ensembl ENCODE dbSUPER 12.1 +359.6 359568 12 MLX DMAP1 YY1 NFYC ZC3H11A MEF2D SSRP1 GLIS1 RCOR2 NBN TGIF1 MYL12A MYL12B DLGAP1-AS1 RPL21P127 SMCHD1 CBX3P2 DLGAP1-AS2 LOC105371967
GH18H003445 2 FANTOM5 Ensembl ENCODE dbSUPER 10.4 +191.1 191093 14 MLX ZFP64 FEZF1 DMAP1 YY1 ZNF143 SP3 NFYC MEF2D SSRP1 METTL4 TGIF1 DLGAP1-AS1 RPL21P127 CBX3P2 MYL12B LOC101927094 GAPLINC
GH18H003591 1.8 FANTOM5 ENCODE dbSUPER 10.4 +334.1 334088 9 HDGF PKNOX1 FOXA2 MLX ARID4B SIN3A FEZF1 YY1 ZNF143 FOS DLGAP1-AS2 TGIF1 DLGAP1-AS1 CBX3P2 MYL12B
GH18H003601 1.7 FANTOM5 ENCODE dbSUPER 10.4 +345.1 345052 11 PKNOX1 FOXA2 MLX ZFP64 ARID4B FEZF1 DMAP1 YY1 FOS DEK DLGAP1-AS2 CBX3P2 MYL12B DLGAP1-AS1 LOC101927044 DLGAP1 LOC105371967
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around MYL12B on UCSC Golden Path with GeneCards custom track

Promoters for MYL12B Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000100007 591 3001 HDGF ARNT ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 CBX5 ZNF143

Genomic Location for MYL12B Gene

Chromosome:
18
Start:
3,261,909 bp from pter
End:
3,278,284 bp from pter
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 StructureGene Density

RefSeq DNA sequence for MYL12B Gene

Proteins for MYL12B Gene

  • 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.
    Miscellaneous:
    • This chain binds calcium.
    SequenceCaution:
    • Sequence=AAP73808.1; Type=Frameshift; Positions=4; Evidence={ECO:0000305};

neXtProt entry for MYL12B Gene

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

Antibody Products

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

Suggested Antigen Peptide Sequences for MYL12B Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

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

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

Function for MYL12B Gene

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

Clone Products

  • Applied Biological Materials Clones for MYL12B
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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
extracellular 5
cytosol 5
cytoskeleton 3
mitochondrion 2
peroxisome 1
nucleus 1
endoplasmic reticulum 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoli fibrillar center (2)
  • Nucleus (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

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

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

(1) Drugs for MYL12B Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
calcium Nutra 0
genes like me logo Genes that share compounds with MYL12B: view

Transcripts for MYL12B Gene

Unigene Clusters for MYL12B Gene

Myosin, light chain 12B, regulatory:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for MYL12B
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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

No ASD Table

Relevant External Links for MYL12B Gene

GeneLoc Exon Structure for
MYL12B
ECgene alternative splicing isoforms for
MYL12B

Expression for MYL12B Gene

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



NURSA nuclear receptor signaling pathways regulating expression of MYL12B Gene:

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(4.6)
  • Liver(4.4)
  • Skin(4.4)
  • Lung(3.1)
  • Muscle(2.8)
  • Heart(2.7)
  • Pancreas(2.7)
  • Adrenal gland(2.3)
  • Gall bladder(2.3)
  • Kidney(2.3)
  • Thyroid gland(2.3)
  • Intestine(2.2)
  • Lymph node(2.2)
  • Stomach(2.2)
  • Spleen(2.1)
  • Blood(2)
  • Bone marrow(2)
  • Eye(2)
genes like me logo Genes that share expression patterns with MYL12B: view

Primer Products

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 34
  • 100 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Myl12b 34
  • 100 (a)
OneToOne
Myl12a 16 33
  • 86.43 (n)
chimpanzee
(Pan troglodytes)
Mammalia MYL12B 33 34
  • 99.81 (n)
cow
(Bos Taurus)
Mammalia MYL12B 34
  • 99 (a)
OneToOne
MYL12A 33
  • 90.12 (n)
dog
(Canis familiaris)
Mammalia MYL12B 34
  • 99 (a)
OneToOne
MYL12A 33
  • 92.25 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 94 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Myl12a 33
  • 87.02 (n)
chicken
(Gallus gallus)
Aves -- 34
  • 99 (a)
ManyToMany
LOC770011 33
  • 86.43 (n)
lizard
(Anolis carolinensis)
Reptilia -- 34
  • 97 (a)
ManyToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia myl12b 33
  • 81.98 (n)
zebrafish
(Danio rerio)
Actinopterygii myl12.1 34
  • 92 (a)
ManyToMany
myl12.2 33 34
  • 79.84 (n)
fruit fly
(Drosophila melanogaster)
Insecta sqh 33 34
  • 75.53 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000927 33
  • 73.63 (n)
worm
(Caenorhabditis elegans)
Secernentea mlc-4 33 34
  • 70.46 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.5139 34
  • 80 (a)
OneToMany
Species where no ortholog for MYL12B was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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 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)

Paralogs for MYL12B Gene

Paralogs for MYL12B Gene

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

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

Variants for MYL12B Gene

Sequence variations from dbSNP and Humsavar for MYL12B Gene

SNP ID Clin Chr 18 pos Sequence Context AA Info Type
rs1000145143 -- 3,275,045(+) CACAG(C/T)AGCCA intron-variant
rs1000271933 -- 3,263,729(+) GTGAT(-/CTTC)CTTCC intron-variant, upstream-variant-2KB
rs1000451010 -- 3,269,261(+) TTTTA(G/T)ACAGC intron-variant
rs1000699477 -- 3,273,798(+) TTTGC(A/G/T)CTCTG intron-variant
rs1000737064 -- 3,269,472(+) CTCCT(A/G)GGTTT intron-variant

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)

Relevant External Links 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

Relevant External Links for MYL12B

Genetic Association Database (GAD)
MYL12B
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
MYL12B

No disorders were found for MYL12B Gene.

No data available for MalaCards , 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 60
  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 60
  3. An organelle-specific protein landscape identifies novel diseases and molecular mechanisms. (PMID: 27173435) Boldt K … UK10K Rare Diseases Group (Nature communications 2016) 3 60
  4. Proteomic analyses reveal distinct chromatin-associated and soluble transcription factor complexes. (PMID: 25609649) Li X … Chen J (Molecular systems biology 2015) 3 60
  5. Quantitative Proteomics Reveals Dynamic Interactions of the Minichromosome Maintenance Complex (MCM) in the Cellular Response to Etoposide Induced DNA Damage. (PMID: 25963833) Drissi R … Boisvert FM (Molecular & cellular proteomics : MCP 2015) 3 60

Products for MYL12B Gene

Sources for MYL12B Gene

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