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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
  • Myosin Regulatory Light Chain 12A 3
  • 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 Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases and Developmental Biology. 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 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

Additional gene information for MYL12A Gene

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

Genomics for MYL12A Gene

GeneHancer (GH) Regulatory Elements for MYL12A Gene

Promoters and enhancers for MYL12A Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH18J003245 Promoter/Enhancer 2.8 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 662.8 +8.6 8600 22.1 CLOCK ZFP64 FEZF1 DMAP1 YBX1 IRF4 YY1 SLC30A9 ZNF213 E2F8 MYOM1 MYL12B MYL12A METTL4 CBX3P2 LOC104968399 LOC101927044 LPIN2 EMILIN2 SMCHD1
GH18J003615 Enhancer 1.8 FANTOM5 Ensembl ENCODE dbSUPER 15.3 +374.0 373995 12.7 MLX DMAP1 YY1 NFYC MEF2D SSRP1 GLIS1 RCOR2 NBN KDM1A TGIF1 MYL12A MYL12B DLGAP1-AS1 RPL21P127 SMCHD1 CBX3P2 DLGAP1-AS2 LOC105371967 DLGAP1
GH18J003582 Enhancer 1 FANTOM5 dbSUPER 15.5 +335.5 335481 0.5 HDGF YBX3 ARNT NFRKB YBX1 NFXL1 ZEB1 ZNF280A TCF12 ZNF366 MYL12A TGIF1 MYL12B DLGAP1 LOC100419892 DLGAP1-AS1
GH18J002679 Enhancer 0.8 dbSUPER 15.5 -560.5 -560466 15.8 YBX3 HDGF ARNT NFRKB ZBTB40 KLF5 NCOA2 ZNF280A CBX5 ZNF143 MYL12A RNU6-340P EMILIN2 TGIF1 SMCHD1 GC18M002508 GC18M002724 ENSG00000266049
GH18J003011 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 1.3 -232.9 -232938 6.4 HDGF PKNOX1 ARNT ARID4B SIN3A DMAP1 YY1 ZNF766 ZNF213 ZNF416 LPIN2 SMCHD1 METTL4 EMILIN2 CBX3P2 TGIF1 MYL12A GC18P003018
- 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 UCSC Golden Path with GeneCards custom track

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

Genomic Locations for MYL12A Gene

Genomic Locations for MYL12A Gene
8,757 bases
Plus strand
8,756 bases
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:
    Recommended name:
    Myosin regulatory light chain 12A
    Protein Accession:
    Secondary Accessions:
    • Q53X45

    Protein attributes for MYL12A Gene

    171 amino acids
    Molecular mass:
    19794 Da
    Quaternary structure:
    • Myosin is a hexamer of 2 heavy chains and 4 light chains.
    • 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

Protein Domains for MYL12A Gene

Graphical View of Domain Structure for InterPro Entry

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

No data available for 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 14743216
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>

Clone Products

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

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
extracellular 5
cytosol 5
cytoskeleton 4
mitochondrion 2
nucleus 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 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

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:0048013 ephrin receptor signaling pathway TAS --
GO:0070527 platelet aggregation HMP 23382103
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

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
calcium Approved Nutra 0
genes like me logo Genes that share compounds with MYL12A: view

Transcripts for MYL12A Gene

mRNA/cDNA for MYL12A Gene

Unigene Clusters for MYL12A Gene

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

Clone Products

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

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

Relevant External Links for MYL12A Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for MYL12A Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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

NURSA nuclear receptor signaling pathways regulating expression of MYL12A Gene:


SOURCE GeneReport for Unigene cluster for MYL12A Gene:


Evidence on tissue expression from TISSUES for MYL12A Gene

  • Muscle(4.9)
  • Lung(4.8)
  • Liver(4.7)
  • Skin(4.7)
  • Pancreas(4.4)
  • Intestine(3.7)
  • Heart(3.4)
  • Nervous system(3.4)
  • Blood(3.3)
  • Eye(3.2)
  • Bone(3.1)
  • Thyroid gland(2.7)
  • Kidney(2.5)
  • Lymph node(2.5)
  • Spleen(2.4)
  • Gall bladder(2.3)
  • Stomach(2.3)
  • Bone marrow(2.2)
  • Adrenal gland(2.1)
genes like me logo Genes that share expression patterns with MYL12A: view

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
(Pan troglodytes)
Mammalia MYL12A 34 33
  • 99.42 (n)
(Canis familiaris)
Mammalia -- 34
  • 99 (a)
MYL12B 33
  • 92.87 (n)
-- 34
  • 91 (a)
(Bos Taurus)
Mammalia MYL9 34
  • 99 (a)
MYL12B 33
  • 89.47 (n)
(Mus musculus)
Mammalia Myl12a 34
  • 98 (a)
Myl12b 16 33
  • 86.5 (n)
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 94 (a)
(Rattus norvegicus)
Mammalia Myl12b 33
  • 84.81 (n)
(Gallus gallus)
Aves MYL12A 34
  • 98 (a)
(Anolis carolinensis)
Reptilia -- 34
  • 71 (a)
(Danio rerio)
Actinopterygii myl12.2 34
  • 95 (a)
myl12.1 34 33
  • 80.59 (n)
fruit fly
(Drosophila melanogaster)
Insecta sqh 34
  • 80 (a)
(Caenorhabditis elegans)
Secernentea mlc-4 34
  • 72 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.5139 34
  • 81 (a)
Cin.5063 33
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.5063 33
Species where no ortholog for MYL12A was found in the sources mined by GeneCards:
  • 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

Gene Tree for MYL12A (if available)
Gene Tree for MYL12A (if available)
Evolutionary constrained regions (ECRs) for MYL12A: view image

Paralogs for MYL12A Gene

Paralogs for MYL12A Gene

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

  • J3KT92_HUMAN
  • J3QRS3_HUMAN 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 Variation AA Info Type
rs1000044815 -- 3,248,054(+) C/T genic_upstream_transcript_variant, intron_variant
rs1000096580 -- 3,248,301(+) G/A genic_upstream_transcript_variant, intron_variant
rs1000577876 -- 3,250,888(+) G/C genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant
rs1000630252 -- 3,251,099(+) G/A genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant
rs1000691116 -- 3,250,616(+) A/G genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant

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

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

Disorders for MYL12A Gene

Additional Disease Information for 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 JW … Church SL (Nucleic acids research 1990) 2 3 4 58
  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 58
  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 58
  4. A Map of Human Mitochondrial Protein Interactions Linked to Neurodegeneration Reveals New Mechanisms of Redox Homeostasis and NF-κB Signaling. (PMID: 29128334) Malty RH … Babu M (Cell systems 2017) 3 58
  5. Reversible oxidation of phosphatase and tensin homolog (PTEN) alters its interactions with signaling and regulatory proteins. (PMID: 26561776) Verrastro I … Pitt AR (Free radical biology & medicine 2016) 3 58

Products for MYL12A Gene

Sources for MYL12A Gene

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