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MYL12A Gene(Protein Coding)

Myosin Light Chain 12A

GCID:
GC18P003238
GIFtS:
55
Genes Participants
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Aliases for MYL12A Gene

Aliases for MYL12A Gene

  • Myosin Light Chain 12A 2 3 5
  • Myosin, Light Polypeptide, Regulatory, Non-Sarcomeric (20kD) 2 3
  • Myosin, Light Chain 12A, Regulatory, Non-Sarcomeric 2 3
  • Myosin Regulatory Light Chain 2, Nonsarcomeric 3 4
  • Myosin Regulatory Light Chain MRLC3 3 4
  • Epididymis Secretory Protein Li 24 3 4
  • Myosin Regulatory Light Chain 3 2 3
  • Myosin RLC 3 4
  • HEL-S-24 3 4
  • MLC-2B 3 4
  • MRLC3 3 4
  • MLCB 3 4
  • MRCL3 3
  • MYL2B 3
  • RLC 4

External Ids for MYL12A Gene

Summaries for MYL12A Gene

Entrez Gene Summary for MYL12A Gene

  • This gene encodes a nonsarcomeric myosin regulatory light chain. This protein is activated by phosphorylation and regulates smooth muscle and non-muscle cell contraction. This protein may also be involved in DNA damage repair by sequestering the transcriptional regulator apoptosis-antagonizing transcription factor (AATF)/Che-1 which functions as a repressor of p53-driven apoptosis. Alternate splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome 8.[provided by RefSeq, Dec 2014]

GeneCards Summary for MYL12A Gene

MYL12A (Myosin Light Chain 12A) is a Protein Coding gene. Among its related pathways are Platelet activation and Developmental Biology. GO annotations related to this gene include calcium ion binding and glutamate receptor binding. An important paralog of this gene is MYLPF.

UniProtKB/Swiss-Prot for MYL12A 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 (By similarity).

Gene Wiki entry for MYL12A Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MYL12A Gene

Genomics for MYL12A Gene

Products:

  1. Regulatory Element

Regulatory Elements for MYL12A Gene

Enhancers for MYL12A Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around MYL12A on UCSC Golden Path with GeneCards custom track

Promoters for MYL12A Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around MYL12A on UCSC Golden Path with GeneCards custom track

Transcription factor binding sites by QIAGEN in the MYL12A gene promoter:

Genomic Location for MYL12A Gene

Chromosome:
18
Start:
3,247,481 bp from pter
End:
3,256,237 bp from pter
Size:
8,757 bases
Orientation:
Plus strand

Genomic View for MYL12A Gene

Genes around MYL12A on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MYL12A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MYL12A Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for MYL12A Gene

Proteins for MYL12A Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • Protein details for MYL12A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P19105-ML12A_HUMAN
    Recommended name:
    Myosin regulatory light chain 12A
    Protein Accession:
    P19105
    Secondary Accessions:
    • Q53X45

    Protein attributes for MYL12A Gene

    Size:
    171 amino acids
    Molecular mass:
    19794 Da
    Quaternary structure:
    • Myosin is a hexamer of 2 heavy chains and 4 light chains.
    Miscellaneous:
    • This chain binds calcium.

neXtProt entry for MYL12A Gene

Proteomics data for MYL12A Gene at MOPED

Protein Expression for MYL12A Gene

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

Post-translational modifications for MYL12A 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 (By similarity).
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for MYL12A Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for MYL12A Gene

Domains & Families for MYL12A Gene

Gene Families for MYL12A Gene

HGNC:

Protein Domains for MYL12A Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for MYL12A Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P19105

UniProtKB/Swiss-Prot:

ML12A_HUMAN :
  • Contains 3 EF-hand domains.
Domain:
  • Contains 3 EF-hand domains.
genes like me logo Genes that share domains with MYL12A: view

Function for MYL12A Gene

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  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line
  7. Flow Cytometry

Molecular function for MYL12A 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 (By similarity).

Phenotypes for MYL12A Gene

MGI mutant phenotypes for MYL12A:
inferred from 1 alleles
GenomeRNAi human phenotypes for MYL12A:
genes like me logo Genes that share phenotypes with MYL12A: view

Animal Models for MYL12A Gene

MGI Knock Outs for MYL12A:

Animal Model Products

CRISPR Products

miRNA for MYL12A Gene

miRTarBase miRNAs that target MYL12A

Inhibitory RNA Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for MYL12A Gene

Localization for MYL12A Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for MYL12A Gene COMPARTMENTS Subcellular localization image for MYL12A gene
Compartment Confidence
cytosol 5
extracellular 5
cytoskeleton 4
mitochondrion 2
nucleus 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for MYL12A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with MYL12A: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for MYL12A Gene

Pathways & Interactions for MYL12A Gene

genes like me logo Genes that share pathways with MYL12A: view

Gene Ontology (GO) - Biological Process for MYL12A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006936 muscle contraction TAS --
GO:0007411 axon guidance TAS --
genes like me logo Genes that share ontologies with MYL12A: view

No data available for SIGNOR curated interactions for MYL12A Gene

Drugs & Compounds for MYL12A Gene

Products:

  1. Drug

(2) Drugs for MYL12A Gene - From: DrugBank and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
4-[4-(2,5-DIOXO-PYRROLIDIN-1-YL)-PHENYLAMINO]-4-HYDROXY-BUTYRIC ACID Experimental Pharma Target 0
calcium Nutra 0
genes like me logo Genes that share compounds with MYL12A: view

Transcripts for MYL12A Gene

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  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone
  5. Flow Cytometry

mRNA/cDNA for MYL12A Gene

(5) REFSEQ mRNAs :
(9) Additional mRNA sequences :
(2090) Selected AceView cDNA sequences:
(12) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for MYL12A Gene

Myosin, light chain 12A, regulatory, non-sarcomeric:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for MYL12A Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7a · 7b
SP1: - - -
SP2:
SP3: -

Relevant External Links for MYL12A Gene

GeneLoc Exon Structure for
MYL12A
ECgene alternative splicing isoforms for
MYL12A

Expression for MYL12A Gene

Products:

  1. Primer

mRNA expression in normal human tissues for MYL12A Gene

mRNA expression in normal human tissues for MYL12A Gene
mRNA expression by BioGPS for MYL12A GenemRNA expression by GTEx for MYL12A Gene

mRNA differential expression in normal tissues according to GTEx for MYL12A Gene

This gene is overexpressed in Heart - Left Ventricle (x8.4), Whole Blood (x6.0), and Muscle - Skeletal (x5.5).

Protein differential expression in normal tissues from HIPED for MYL12A Gene

This gene is overexpressed in Peripheral blood mononuclear cells (17.7), Ovary (11.3), and Monocytes (9.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for MYL12A Gene



SOURCE GeneReport for Unigene cluster for MYL12A Gene Hs.190086

genes like me logo Genes that share expression patterns with MYL12A: view

Protein tissue co-expression partners for MYL12A Gene

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA Expression by UniProt/SwissProt for MYL12A Gene

Orthologs for MYL12A Gene

This gene was present in the common ancestor of animals.

Orthologs for MYL12A Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
 Mammalia MYL12B 35
  • 89.47 (n)
  • 97.66 (a)
MYL9 36
  • 99 (a)
 OneToOne
dog
(Canis familiaris)
 Mammalia MYL12B 35
  • 92.87 (n)
  • 98.74 (a)
-- 36
  • 91 (a)
 OneToMany
-- 36
  • 99 (a)
 OneToMany
mouse
(Mus musculus)
 Mammalia Myl12b 35
  • 86.5 (n)
  • 99.37 (a)
Myl12b 16
Myl12a 36
  • 98 (a)
 OneToOne
chimpanzee
(Pan troglodytes)
 Mammalia MYL12A 35
  • 99.42 (n)
  • 100 (a)
MYL12A 36
  • 100 (a)
 OneToOne
rat
(Rattus norvegicus)
 Mammalia Myl12b 35
  • 84.81 (n)
  • 99.37 (a)
platypus
(Ornithorhynchus anatinus)
 Mammalia -- 36
  • 94 (a)
 OneToMany
chicken
(Gallus gallus)
 Aves MYL12A 36
  • 98 (a)
 ManyToMany
lizard
(Anolis carolinensis)
 Reptilia -- 36
  • 71 (a)
 OneToMany
zebrafish
(Danio rerio)
 Actinopterygii myl12.1 35
  • 80.59 (n)
  • 93.04 (a)
myl12.1 36
  • 92 (a)
 ManyToMany
myl12.2 36
  • 95 (a)
 ManyToMany
fruit fly
(Drosophila melanogaster)
 Insecta sqh 36
  • 80 (a)
 OneToMany
worm
(Caenorhabditis elegans)
 Secernentea mlc-4 36
  • 72 (a)
 OneToMany
sea squirt
(Ciona intestinalis)
 Ascidiacea Cin.5063 35
sea squirt
(Ciona savignyi)
 Ascidiacea CSA.5139 36
  • 81 (a)
 OneToMany
Species with no ortholog for MYL12A:
  • 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)
  • 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)
  • oppossum (Monodelphis domestica)
  • 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for MYL12A Gene

ENSEMBL:
Gene Tree for MYL12A (if available)
TreeFam:
Gene Tree for MYL12A (if available)

Paralogs for MYL12A Gene

Paralogs for MYL12A Gene

(20) SIMAP similar genes for MYL12A Gene using alignment to 4 proteins:

Pseudogenes.org Pseudogenes for MYL12A Gene

genes like me logo Genes that share paralogs with MYL12A: view

Variants for MYL12A Gene

Sequence variations from dbSNP and Humsavar for MYL12A Gene

SNP ID Clin Chr 18 pos Sequence Context AA Info Type
rs1662343 -- 3,251,996(-) AACCA(C/T)ATCGT intron-variant, upstream-variant-2KB
rs1662344 -- 3,251,994(-) CCATA(C/T)CGTCC intron-variant, upstream-variant-2KB
rs1662345 -- 3,251,745(-) GATGC(C/T)GCCTT intron-variant, upstream-variant-2KB
rs1662346 -- 3,250,639(-) ACTGG(A/C)AGTGT intron-variant, upstream-variant-2KB
rs1662347 -- 3,250,328(-) CAATT(G/T)AGACT intron-variant, upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for MYL12A Gene

Variant ID Type Subtype PubMed ID
nsv909317 CNV Gain 21882294
esv275271 CNV Loss 21479260

Variation tolerance for MYL12A Gene

Residual Variation Intolerance Score: 43.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.46; 10.04% of all genes are more intolerant (likely to be disease-causing)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Relevant External Links for MYL12A Gene

Disorders for MYL12A Gene

Relevant External Links for MYL12A

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
MYL12A

No disorders were found for MYL12A Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for MYL12A Gene

Publications for MYL12A Gene

  1. Human nonsarcomeric 20,000 Da myosin regulatory light chain cDNA. (PMID: 2216787) Grant J.W. … Church S.L. (Nucleic Acids Res. 1990) 2 3 4 67
  2. Reversible oxidation of phosphatase and tensin homolog (PTEN) alters its interactions with signaling and regulatory proteins. (PMID: 26561776) Verrastro I. … Pitt A.R. (Free Radic. Biol. Med. 2016) 3
  3. 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 F.M. (Mol. Cell Proteomics 2015) 3
  4. A human interactome in three quantitative dimensions organized by stoichiometries and abundances. (PMID: 26496610) Hein M.Y. … Mann M. (Cell 2015) 3
  5. The functional landscape of Hsp27 reveals new cellular processes such as DNA repair and alternative splicing and proposes novel anticancer targets. (PMID: 25277244) Katsogiannou M. … Rocchi P. (Mol. Cell Proteomics 2014) 3

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