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 apopto... See more...

Aliases for MYL12A Gene

Aliases for MYL12A Gene

  • Myosin Light Chain 12A 2 3 5
  • MRLC3 2 3 4
  • MLCB 2 3 4
  • 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 12A 3 4
  • Myosin Regulatory Light Chain 3 2 3
  • Myosin RLC 3 4
  • HEL-S-24 3 4
  • MLC-2B 3 4
  • MRCL3 2 3
  • MYL2B 2 3
  • MYL12A 5
  • 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. Diseases associated with MYL12A include Primary Cutaneous Amyloidosis and Cardiomyopathy, Familial Hypertrophic, 1. Among its related pathways are Immune response CCR3 signaling in eosinophils and EPH-Ephrin signaling. Gene Ontology (GO) annotations related to this gene include calcium ion binding and glutamate receptor binding. An important paralog of this gene is MYL12B.

UniProtKB/Swiss-Prot Summary 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 CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for MYL12A Gene

Genomics for MYL12A Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for MYL12A 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 MYL12A on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for MYL12A

Top Transcription factor binding sites by QIAGEN in the MYL12A gene promoter:
  • C/EBPbeta
  • Chx10
  • FOXO1
  • FOXO1a
  • FOXO4
  • HNF-4alpha1
  • HNF-4alpha2
  • LCR-F1
  • Sox5

Genomic Locations for MYL12A Gene

Latest Assembly
chr18:3,247,481-3,256,237
(GRCh38/hg38)
Size:
8,757 bases
Orientation:
Plus strand

Previous Assembly
chr18:3,247,480-3,256,235
(GRCh37/hg19 by Entrez Gene)
Size:
8,756 bases
Orientation:
Plus strand

chr18:3,247,479-3,256,234
(GRCh37/hg19 by Ensembl)
Size:
8,756 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 StructureGene Density

RefSeq DNA sequence for MYL12A Gene

Proteins for MYL12A Gene

  • 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

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

No data available for DME Specific Peptides for MYL12A Gene

Domains & Families for MYL12A Gene

Gene Families for MYL12A Gene

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

Protein Domains for MYL12A Gene

Suggested Antigen Peptide Sequences for MYL12A Gene

GenScript: Design optimal peptide antigens:
  • Myosin regulatory light chain MRLC3 (ML12A_HUMAN)
  • cDNA FLJ76400, highly similar to Homo sapiens myosin regulatory light chain MRCL3 (MRCL3), mRNA (Q53X45_HUMAN)
genes like me logo Genes that share domains with MYL12A: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for MYL12A Gene

Function for MYL12A Gene

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 From GWAS Catalog for MYL12A Gene

Gene Ontology (GO) - Molecular Function for MYL12A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005509 calcium ion binding IEA --
GO:0005515 protein binding IPI 21457715
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with MYL12A: view
genes like me logo Genes that share phenotypes with MYL12A: view

Animal Models for MYL12A Gene

MGI Knock Outs for MYL12A:
  • Myl12b Myl12b<tm1a(EUCOMM)Wtsi>

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MYL12A

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

Localization for MYL12A 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 MYL12A gene
Compartment Confidence
cytosol 5
extracellular 4
cytoskeleton 4
plasma membrane 2
mitochondrion 2
nucleus 2
endoplasmic reticulum 2
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 MYL12A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005829 cytosol TAS --
GO:0016459 myosin complex IEA --
GO:0070062 extracellular exosome HDA 20458337
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

PathCards logo

SuperPathways for MYL12A Gene

SuperPathway Contained pathways
1 Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases
.49
.49
.42
.32
2 Developmental Biology
3 EPH-Ephrin signaling
4 Immune response CCR3 signaling in eosinophils
.51
.51
5 Axon guidance
genes like me logo Genes that share pathways with MYL12A: view

Pathways by source for MYL12A Gene

6 GeneGo (Thomson Reuters) pathways for MYL12A 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 MYL12A Gene

Is activated by:

Gene Ontology (GO) - Biological Process for MYL12A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006936 muscle contraction TAS --
GO:0070527 platelet aggregation HMP 23382103
genes like me logo Genes that share ontologies with MYL12A: view

Drugs & Compounds for MYL12A Gene

(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 6959
genes like me logo Genes that share compounds with MYL12A: view

Transcripts for MYL12A Gene

mRNA/cDNA for MYL12A Gene

4 REFSEQ mRNAs :
14 NCBI additional mRNA sequence :
12 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 MYL12A

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

Expression for MYL12A Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE 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 and MOPED for MYL12A Gene



Protein tissue co-expression partners for MYL12A Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for MYL12A

SOURCE GeneReport for Unigene cluster for MYL12A Gene:

Hs.190086

Evidence on tissue expression from TISSUES for MYL12A Gene

  • Muscle(5)
  • Lung(4.9)
  • Liver(4.8)
  • Skin(4.8)
  • Pancreas(4.4)
  • Intestine(4)
  • Heart(3.9)
  • Nervous system(3.9)
  • Blood(3.8)
  • Eye(3.6)
  • Bone(3.4)
  • Kidney(3.1)
  • Thyroid gland(3)
  • Spleen(2.7)
  • Stomach(2.7)
  • Lymph node(2.7)
  • Bone marrow(2.6)
  • Gall bladder(2.3)
  • Adrenal gland(2.1)
genes like me logo Genes that share expression patterns with MYL12A: view

Primer products for research

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer 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
Chimpanzee
(Pan troglodytes)
Mammalia MYL12A 29 30
  • 99.42 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia -- 30
  • 99 (a)
OneToMany
MYL12B 29
  • 92.87 (n)
-- 30
  • 91 (a)
OneToMany
Cow
(Bos Taurus)
Mammalia MYL9 30
  • 99 (a)
OneToOne
MYL12B 29
  • 89.47 (n)
Mouse
(Mus musculus)
Mammalia Myl12a 30
  • 98 (a)
OneToOne
Myl12b 29 16
  • 86.5 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 30
  • 94 (a)
OneToMany
Rat
(Rattus norvegicus)
Mammalia Myl12b 29
  • 84.81 (n)
Chicken
(Gallus gallus)
Aves MYL12A 30
  • 98 (a)
ManyToMany
Lizard
(Anolis carolinensis)
Reptilia -- 30
  • 71 (a)
OneToMany
Zebrafish
(Danio rerio)
Actinopterygii myl12.2 30
  • 95 (a)
ManyToMany
myl12.1 29 30
  • 80.59 (n)
ManyToMany
Fruit Fly
(Drosophila melanogaster)
Insecta sqh 30
  • 80 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea mlc-4 30
  • 72 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.5139 30
  • 81 (a)
OneToMany
Sea Vase
(Ciona intestinalis)
Ascidiacea Cin.5063 29
Species where no ortholog for MYL12A was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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)
Aminode:
Evolutionary constrained regions (ECRs) for MYL12A: view image
Alliance of Genome Resources:
Additional Orthologs for MYL12A

Paralogs for MYL12A Gene

Paralogs for MYL12A Gene

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

  • ML12A_HUMAN
  • J3KT92_HUMAN
  • J3KTJ1_HUMAN
  • J3QRS3_HUMAN

Pseudogenes.org Pseudogenes for MYL12A Gene

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

Variants for MYL12A Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for MYL12A Gene

SNP ID Clinical significance and condition Chr 18 pos Variation AA Info Type
rs61751192 Benign: not provided 3,253,944(+) C/T
NM_001303049.1(MYL12A):c.255C>T (p.Pro85=)
SYNONYMOUS

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for MYL12A 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 MYL12A Gene

Variant ID Type Subtype PubMed ID
esv275271 CNV loss 21479260
esv3641584 CNV loss 21293372
esv3641585 CNV gain 21293372
esv3641586 CNV gain 21293372
nsv1062247 CNV gain 25217958
nsv978594 CNV duplication 23825009

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)

Additional Variant Information for MYL12A Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
MYL12A
Leiden Open Variation Database (LOVD)
MYL12A

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MYL12A Gene

Disorders for MYL12A Gene

MalaCards: The human disease database

(3) MalaCards diseases for MYL12A Gene - From: COP

Disorder Aliases PubMed IDs
primary cutaneous amyloidosis
  • familial primary localized cutaneous amyloidosis
cardiomyopathy, familial hypertrophic, 1
  • cmh1
myopathy, centronuclear, 2
  • cnm2
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for MYL12A

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

No data available for 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 JW … Church SL (Nucleic acids research 1990) 2 3 4
  2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4
  3. 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
  4. Virus-Host Interactome and Proteomic Survey Reveal Potential Virulence Factors Influencing SARS-CoV-2 Pathogenesis. (PMID: 32838362) Li J … Liang Q (Med (New York, N.Y.) 2021) 3
  5. ZZW-115-dependent inhibition of NUPR1 nuclear translocation sensitizes cancer cells to genotoxic agents. (PMID: 32780723) Lan W … Iovanna J (JCI insight 2020) 3

Products for MYL12A Gene

Sources for MYL12A Gene