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
External Ids for MYL12A Gene
- HGNC: 16701
- Entrez Gene: 10627
- Ensembl: ENSG00000101608
- UniProtKB: P19105
Summaries 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 Cardiomyopathy, Familial Hypertrophic. Among its related pathways are Immune response CCR3 signaling in eosinophils and Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases. 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).
No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MYL12A Gene
Genomics for MYL12A Gene
Regulatory Elements for MYL12A Gene
Enhancers for MYL12A Gene
- Elite enhancer and/or Elite enhancer-gene association
Download GeneHancer data dump
Enhancers around MYL12A on UCSC Golden Path with GeneCards custom track
- Transcription factor binding sites by QIAGEN in the MYL12A gene promoter:
Regulatory Element Products
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:
-
- 18p11.31 by Ensembl
- 18p11.31 by Entrez Gene
- 18p11.31 by HGNC
MYL12A Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- 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.
Protein Expression 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
Other Protein References for MYL12A Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- Novus Biologicals Antibodies for MYL12A
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Abcam antibodies for MYL12A
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Cloud-Clone Corp. Antibodies for MYL12A
- Invitrogen Antibodies for MYL12A
- antibodies-online Antibodies for MYL12A: See all 6
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-
Santa Cruz Biotechnology (SCBT) Antibodies for MYL12A
Protein Products
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-
Cloud-Clone Corp. Proteins for MYL12A
- antibodies-online Proteins for MYL12A: See all 5
- Search antibodies-online for peptides
- Search GeneTex for Proteins for MYL12A
-
Abcam proteins for MYL12A
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
- InterPro:
- ProtoNet:
Suggested Antigen Peptide Sequences for MYL12A Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
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).
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005509 | calcium ion binding | IEA | -- |
| GO:0005515 | protein binding | IPI | 21457715 |
| GO:0035254 | glutamate receptor binding | IEA | -- |
| GO:0046872 | metal ion binding | IEA | -- |
Phenotypes for MYL12A Gene
- MGI mutant phenotypes for MYL12A:
- inferred from 1 alleles
- GenomeRNAi human phenotypes for MYL12A:
Animal Models for MYL12A Gene
- MGI Knock Outs for MYL12A:
-
- Myl12b tm1a(EUCOMM)Wtsi
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
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-
-
ViGene Biosciences lentiviral particle packaged cDNA for MYL12A gene
-
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- Search ViGene Biosciences for MYL12A
CRISPR Products
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-
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- GenScript: Design CRISPR guide RNA sequences for MYL12A
miRNA for MYL12A Gene
- miRTarBase miRNAs that target MYL12A
-
- hsa-mir-6803-5p (MIRT462577)
- hsa-mir-6751-5p (MIRT462578)
- hsa-mir-7109-5p (MIRT462579)
- hsa-mir-4665-5p (MIRT462580)
- hsa-mir-1275 (MIRT462581)
- hsa-mir-5010-5p (MIRT462582)
- hsa-mir-4525 (MIRT462583)
- hsa-mir-7111-5p (MIRT462584)
- hsa-mir-6870-5p (MIRT462585)
- hsa-mir-5698 (MIRT462586)
- hsa-mir-4723-5p (MIRT462587)
- hsa-mir-625-5p (MIRT462588)
- hsa-mir-3175 (MIRT462589)
- hsa-mir-762 (MIRT462590)
- hsa-mir-5001-5p (MIRT462591)
- hsa-mir-4492 (MIRT462592)
- hsa-mir-4498 (MIRT462593)
- hsa-mir-6878-5p (MIRT462594)
- hsa-mir-5703 (MIRT462595)
- hsa-mir-4516 (MIRT462596)
- hsa-mir-4434 (MIRT462597)
- hsa-mir-133a-5p (MIRT462598)
- hsa-mir-6770-5p (MIRT462599)
- hsa-mir-154-5p (MIRT462600)
- hsa-mir-4446-3p (MIRT462601)
- hsa-mir-6502-3p (MIRT462602)
- hsa-mir-3154 (MIRT462603)
- hsa-mir-140-3p (MIRT462604)
miRNA Products
- Search ViGene Biosciences for MYL12A
Inhibitory RNA Products
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Clone Products
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- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for MYL12A
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Cell Line Products
-
Horizon Cell Lines for MYL12A
-
ViGene Biosciences adenoviral particle packaged cDNA for MYL12A gene
-
ViGene Biosciences lentiviral particle packaged cDNA for MYL12A gene
-
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No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for MYL12A Gene
Localization for MYL12A Gene
| Compartment | Confidence |
|---|---|
| extracellular | 5 |
| cytosol | 5 |
| cytoskeleton | 4 |
| mitochondrion | 2 |
| nucleus | 1 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005829 | cytosol | TAS | -- |
| GO:0016459 | myosin complex | IEA | -- |
| GO:0016460 | myosin II complex | IEA | -- |
| GO:0030018 | Z disc | IEA | -- |
| GO:0070062 | extracellular exosome | IDA | 20458337 |
No data available for Subcellular locations from UniProtKB/Swiss-Prot for MYL12A Gene
Pathways & Interactions for MYL12A Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases | ||
| 2 | Developmental Biology |
.51
|
|
| 3 | EPH-Ephrin signaling |
.01
|
|
| 4 | Immune response CCR3 signaling in eosinophils | ||
| 5 | Focal Adhesion |
.62
|
|
Pathways by source for MYL12A Gene
6 Reactome pathways for MYL12A Gene
5 KEGG pathways for MYL12A Gene
6 GeneGo (Thomson Reuters) pathways for MYL12A Gene
Interacting Proteins for MYL12A Gene
Selected Interacting proteins:
ENSP00000217652
P19105-ML12A_HUMAN
for MYL12A Gene via
STRING
MINT
IID
UniProtKB
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0006936 | muscle contraction | TAS | -- |
| GO:0008360 | regulation of cell shape | IEA | -- |
| GO:0048013 | ephrin receptor signaling pathway | TAS | -- |
| GO:0070527 | platelet aggregation | IMP | 23382103 |
| GO:0072661 | protein targeting to plasma membrane | IEA | -- |
No data available for SIGNOR curated interactions for MYL12A Gene
Transcripts for MYL12A Gene
mRNA/cDNA for MYL12A Gene
- (4) 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
CRISPR Products
-
OriGene CRISPR knockouts for MYL12A
-
Santa Cruz Biotechnology (SCBT) CRISPR for MYL12A
- GenScript: Design CRISPR guide RNA sequences for MYL12A
miRNA Products
- Search ViGene Biosciences for MYL12A
Inhibitory RNA Products
- Origene RNAi, siRNA, and shRNA products in human, mouse, rat for MYL12A
- Browse OriGene Inhibitory RNA Products For MYL12A
-
ViGene Biosciences ready-to-package AAV shRNAs for MYL12A gene
Clone Products
- Sino Biological Human cDNA Clone for MYL12A
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- VectorBuilder custom plasmid, inducible vectors for MYL12A
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for MYL12A
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
| ExUns: | 1 | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5a | · | 5b | ^ | 6 | ^ | 7a | · | 7b |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | - | - | ||||||||||||||
| SP2: | |||||||||||||||||
| SP3: | - |
Expression 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).
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
NURSA nuclear receptor signaling pathways regulating expression of MYL12A Gene:
MYL12ASOURCE GeneReport for Unigene cluster for MYL12A Gene:
Hs.190086Evidence 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)
Primer Products
-
OriGene qPCR primer pairs for MYL12A
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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | MYL12A 34 35 |
|
||
| cow (Bos Taurus) |
Mammalia | MYL9 35 |
|
OneToOne | |
| MYL12B 34 |
|
||||
| dog (Canis familiaris) |
Mammalia | -- 35 |
|
OneToMany | |
| MYL12B 34 |
|
||||
| -- 35 |
|
OneToMany | |||
| mouse (Mus musculus) |
Mammalia | Myl12a 35 |
|
OneToOne | |
| Myl12b 16 34 |
|
||||
| platypus (Ornithorhynchus anatinus) |
Mammalia | -- 35 |
|
OneToMany | |
| rat (Rattus norvegicus) |
Mammalia | Myl12b 34 |
|
||
| chicken (Gallus gallus) |
Aves | MYL12A 35 |
|
ManyToMany | |
| lizard (Anolis carolinensis) |
Reptilia | -- 35 |
|
OneToMany | |
| zebrafish (Danio rerio) |
Actinopterygii | myl12.2 35 |
|
ManyToMany | |
| myl12.1 35 34 |
|
ManyToMany | |||
| fruit fly (Drosophila melanogaster) |
Insecta | sqh 35 |
|
OneToMany | |
| worm (Caenorhabditis elegans) |
Secernentea | mlc-4 35 |
|
OneToMany | |
| sea squirt (Ciona savignyi) |
Ascidiacea | CSA.5139 35 |
|
OneToMany | |
| sea squirt (Ciona intestinalis) |
Ascidiacea | Cin.5063 34 |
|
- 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)
Paralogs for MYL12A Gene
(20) SIMAP similar genes for MYL12A Gene using alignment to 4 proteins:
Pseudogenes.org Pseudogenes for MYL12A Gene
Variants for MYL12A Gene
| SNP ID | Clin | Chr 18 pos | Sequence Context | AA Info | Type |
|---|---|---|---|---|---|
| rs1000044815 | -- | 3,248,054(+) | CGAGG(C/T)CATGG | intron-variant | |
| rs1000096580 | -- | 3,248,301(+) | GCTGC(A/G)TTTAG | intron-variant | |
| rs1000577876 | -- | 3,250,888(+) | CTTCT(C/G)GAATG | intron-variant, upstream-variant-2KB | |
| rs1000630252 | -- | 3,251,099(+) | AATGT(A/G)CTGAA | intron-variant, upstream-variant-2KB | |
| rs1000691116 | -- | 3,250,616(+) | TAGGT(A/G)GTAAC | intron-variant, upstream-variant-2KB |
| 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 |
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)
Relevant External Links for MYL12A Gene
- SNPedia medical, phenotypic, and genealogical associations of SNPs for
- MYL12A
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MYL12A Gene
Disorders for MYL12A Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| cardiomyopathy, familial hypertrophic |
|
|
Search MYL12A in MalaCards
View complete list of genes associated with diseases
Relevant External Links for MYL12A
- Atlas of Genetics and Cytogenetics in Oncology and Haematology:
- MYL12A
No data available for UniProtKB/Swiss-Prot and Genatlas for MYL12A Gene
Publications for MYL12A Gene
- 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 64
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64
- 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 Struct. Funct. 2001) 3 4 64
- 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 64
- 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 64
Products for MYL12A Gene
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- antibodies-online Antibodies for MYL12A: See all 6
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- GeneTex MYL12A antibody for MYL12A
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- ViGene Biosciences adenoviral particle packaged cDNA for MYL12A gene
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- Search ViGene Biosciences for MYL12A
- Santa Cruz Biotechnology (SCBT) Antibodies for MYL12A
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- Santa Cruz Biotechnology (SCBT) CRISPR for MYL12A
- Horizon Cell Lines for MYL12A
- Cyagen custom Knockout/knockin (KOKI) mouse models for MYL12A
- VectorBuilder custom plasmid, inducible vectors for MYL12A
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for MYL12A
- VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Sources for MYL12A Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) RNAdb
- (29) ASD
- (30) ECgene
- (31) GeneAnnot
- (32) CGAP SAGE
- (33) SOURCE
- (34) HomoloGene
- (35) PanEnsembl
- (36) euGenes
- (37) SGD
- (38) FlyBase
- (39) WormBase
- (40) Pseudogene
- (41) DGV
- (42) dbSNP
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