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MYL12B Gene

protein-coding   GIFtS: 60
GCID: GC18P003261

Myosin, Light Chain 12B, Regulatory

  See MYL12B-related disease
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Myosin, Light Chain 12B, Regulatory1 2     MLC-2A2 3
MRLC22 3 5     MLC202 3
Myosin Regulatory Light Chain 21 2     SHUJUN-12 3
Myosin Regulatory Light Chain 2-B, Smooth Muscle Isoform2 3     MLC-B2
Myosin Regulatory Light Chain 20 KDa2 3     Myosin Regulatory Light Chain 12B2
Myosin Regulatory Light Chain MRLC22 3     MYLC2B3
MLC-22 3     

External Ids:    HGNC: 298271   Entrez Gene: 1039102   Ensembl: ENSG000001186807   OMIM: 6092115   UniProtKB: O149503   

Export aliases for MYL12B gene to outside databases

Previous GC identifer: GC18P003254


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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, regulatory) is a protein-coding gene. Diseases associated with MYL12B include double outlet right ventricle. GO annotations related to this gene include calcium ion binding. An important paralog of this gene is MYL12A.

UniProtKB/Swiss-Prot: ML12B_HUMAN, O14950
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 (By similarity)




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000018.9  NC_018929.2  NT_010859.15  
Regulatory elements:
   Regulatory transcription factor binding sites in the MYL12B gene promoter:
         Sox5   C/EBPbeta   LCR-F1   HNF-4alpha1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidMYL12B promoter sequence
   Search Chromatin IP Primers for MYL12B

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat MYL12B


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 18p11.31   Ensembl cytogenetic band:  18p11.31   HGNC cytogenetic band: 18p11.31

MYL12B Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
MYL12B gene location

GeneLoc information about chromosome 18         GeneLoc Exon Structure

GeneLoc location for GC18P003261:  view genomic region     (about GC identifiers)

Start:
3,261,907 bp from pter      End:
3,278,282 bp from pter
Size:
16,376 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: ML12B_HUMAN, O14950 (See protein sequence)
Recommended Name: Myosin regulatory light chain 12B  
Size: 172 amino acids; 19779 Da
Subunit: Myosin is a hexamer of 2 heavy chains and 4 light chains
Miscellaneous: This chain binds calcium (By similarity)
Sequence caution: Sequence=AAP73808.1; Type=Frameshift; Positions=4;
Secondary accessions: D3DUH6 Q13182 Q7Z5Z4

Explore the universe of human proteins at neXtProt for MYL12B: NX_O14950

Explore proteomics data for MYL12B at MOPED

Post-translational modifications: 

  • 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
    treatment1
  • Ubiquitination2 at Lys51, Lys150, Lys151
  • Modification sites at PhosphoSitePlus

  • See MYL12B Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_001138416.1  NP_001138417.1  NP_291024.1  

    ENSEMBL proteins: 
     ENSP00000237500   ENSP00000463559   ENSP00000383037   ENSP00000464464  
    Reactome Protein details: O14950

    MYL12B Human Recombinant Protein Products:

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    Cloud-Clone Corp. Proteins for MYL12B

     
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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    EFHAND: EF-hand domain containing
    MYL: Myosins / Light chain

    3 InterPro protein domains:
     IPR011992 EF-hand-dom_pair
     IPR002048 EF_hand_dom
     IPR018247 EF_Hand_1_Ca_BS

    Graphical View of Domain Structure for InterPro Entry O14950

    ProtoNet protein and cluster: O14950

    UniProtKB/Swiss-Prot: ML12B_HUMAN, O14950
    Similarity: Contains 3 EF-hand domains


    Find genes that share domains with MYL12B           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: ML12B_HUMAN, O14950
    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 (By similarity)

         Gene Ontology (GO): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005509calcium ion binding IEA--
    GO:0005515protein binding IPI19328794
         
    Find genes that share ontologies with MYL12B           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for MYL12B:
     Synthetic lethal with Ras 

         3 MGI mutant phenotypes (inferred from 1 allele(MGI details for Myl12b):
     hematopoietic system  homeostasis/metabolism  immune system 

    Find genes that share phenotypes with MYL12B           About GenesLikeMe

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for MYL12B
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    miRNA
    Products:
        
    miRTarBase miRNAs that target MYL12B:
    hsa-mir-193b-3p (MIRT041406)

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    6 qRT-PCR Assays for microRNAs that regulate MYL12B:
    hsa-miR-23b hsa-miR-130a* hsa-miR-3920 hsa-miR-23a hsa-miR-23c hsa-miR-548c-3p
    SwitchGear 3'UTR luciferase reporter plasmidMYL12B 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat MYL12B

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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol4
    cytoskeleton2
    mitochondrion2
    nucleus2
    endoplasmic reticulum1
    peroxisome1

    Gene Ontology (GO): Selected cellular component terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001725stress fiber IEA--
    GO:0005829cytosol TAS--
    GO:0016460myosin II complex IEA--
    GO:0030018Z disc IEA--
    GO:0043234protein complex ----

    Find genes that share ontologies with MYL12B           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for MYL12B About   (see all 11)  
    See pathways by source

    SuperPathContained pathways About
    1Immune response CCR3 signaling in eosinophils
    Inhibitory action of Lipoxins on neutrophil migration0.51
    Immune response CCR3 signaling in eosinophils0.51
    2Cell adhesion Integrin mediated cell adhesion and migration
    Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases0.49
    Development MAG dependent inhibition of neurite outgrowth0.46
    Cell adhesion Integrin mediated cell adhesion and migration0.49
    Cell adhesion Tight junctions0.33
    3Semaphorin interactions
    Sema4D in semaphorin signaling0.90
    Semaphorin interactions0.43
    Sema4D induced cell migration and growth-cone collapse0.90
    4L1CAM interactions
    Axon guidance0.63
    Developmental Biology0.63
    5Striated Muscle Contraction
    Muscle contraction0.61
    Smooth Muscle Contraction0.47


    Find genes that share SuperPaths with MYL12B           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    Selected Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for MYL12B (see all 25)
        RhoA Pathway
    PKA Signaling
    Actin-Based Motility by Rho Family GTPases
    Guidance Cues and Growth Cone Motility
    Antioxidant Action of Vitamin-C

    Selected GeneGo (Thomson Reuters) Pathways for MYL12B (see all 6)
        Cell adhesion Integrin-mediated cell adhesion and migration
    Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases
    Inhibitory action of Lipoxins on neutrophil migration
    Immune response CCR3 signaling in eosinophils
    Cell adhesion Tight junctions

    1 BioSystems Pathway for MYL12B
        TSH signaling pathway

    1 Sino Biological Pathway for MYL12B
        Non-Canonical Wnt Pathway

    2 Reactome Pathways for MYL12B
        Smooth Muscle Contraction
    Sema4D induced cell migration and growth-cone collapse


    4 Kegg Pathways  (Kegg details for MYL12B):
        Focal adhesion
    Tight junction
    Leukocyte transendothelial migration
    Regulation of actin cytoskeleton

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for MYL12B
    Interactions:

        Search GeneGlobe Interaction Network for MYL12B

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for MYL12B (O149501, 3 ENSP000002375004) via UniProtKB, MINT, STRING, and/or I2D (see all 85)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    MYLIPQ8WY643, ENSP000003492984I2D: score=2 STRING: ENSP00000349298
    ARHGAP35Q9NRY43, ENSP000003857204I2D: score=1 STRING: ENSP00000385720
    KCNN2Q9H2S13, ENSP000002647734I2D: score=1 STRING: ENSP00000264773
    USP45Q70EL23, ENSP000003333764I2D: score=2 STRING: ENSP00000333376
    PNKDQ8N4903, ENSP000002730774I2D: score=1 STRING: ENSP00000273077
    About this table

    Gene Ontology (GO): 3 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006936muscle contraction TAS--
    GO:0007411axon guidance TAS--
    GO:0008360regulation of cell shape IEA--

    Find genes that share ontologies with MYL12B           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for MYL12B (ML12B)

    1 HMDB Compound for MYL12B    About this table
    CompoundSynonyms CAS #PubMed Ids
    CalciumCa (see all 2)7440-70-2--



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for MYL12B gene (4 alternative transcripts): 
    NM_001144946.1  NM_001144944.1  NM_001144945.1  NM_033546.3  

    Unigene Cluster for MYL12B:

    Myosin, light chain 12B, regulatory
    Hs.464472  [show with all ESTs]
    Unigene Representative Sequence: BG029205
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000237500(uc002klt.4) ENST00000581193(uc010wyv.2) ENST00000400175(uc010dkl.3)
    ENST00000584539
    miRNA
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    hsa-miR-23b hsa-miR-130a* hsa-miR-3920 hsa-miR-23a hsa-miR-23c hsa-miR-548c-3p
    SwitchGear 3'UTR luciferase reporter plasmidMYL12B 3' UTR sequence
    Inhib. RNA
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      QuantiTect SYBR Green Assays in human, mouse, rat MYL12B
      QuantiFast Probe-based Assays in human, mouse, rat MYL12B

    Additional mRNA sequence: 

    AK291726.1 AY320408.1 BC004994.1 D50372.1 D82058.1 U26162.1 

    Selected DOTS entries (see all 26):

    DT.100686941  DT.92469540  DT.92410215  DT.91808621  DT.450689  DT.100686934  DT.100686930  DT.95278456 
    DT.100686926  DT.121084514  DT.95278489  DT.100686939  DT.121406633  DT.97846737  DT.100686931  DT.100686938 
    DT.40304309  DT.95278548  DT.121084534  DT.121084582  DT.121266965  DT.91926088  DT.92469421  DT.95278678 

    Selected AceView cDNA sequences (see all 2090):

    AI697424 N71909 BU788073 BQ272022 D58169 CA431749 BM987512 AW149847 
    CD366069 BQ019435 BE858261 BQ689134 AV716556 AI887246 BM823233 AI869431 
    BG696333 D82059 BM972805 D82058 CF128542 AA314746 BI064200 CA943608 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    MYL12B expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CAACTTAGTT
    MYL12B Expression
    About this image


    MYL12B expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 19) fully expand
     
     Brain (Nervous System)
             Cerebral Cortex
     
     Bone (Muscoskeletal System)
             Bone Marrow
     
     Colon (Gastrointestinal Tract)
     
     Uterus (Reproductive System)
     
     Thyroid (Endocrine System)
    MYL12B Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    MYL12B Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.464472

    UniProtKB/Swiss-Prot: ML12B_HUMAN, O14950
    Tissue specificity: Ubiquitously expressed in various hematopoietic cells

        Custom PCR Arrays for MYL12B
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MYL12B

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals.

    Orthologs for MYL12B gene from Selected species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Myl12b5
    Myl12a1
    myosin, light chain 12B, regulatory5
    myosin, light chain 12A, regulatory, non-sarcomeric1
    86.43(n)1
    97.67(a)1
      17 (41.87 cM)5
    672681  NM_026064.21  NP_080340.21 
     709739205 
    chicken
    (Gallus gallus)
    Aves LOC7700111 myosin regulatory light chain 2, smooth muscle minor more 86.43(n)
    98.84(a)
      770011  XM_004939753.1  XP_004939810.1 
    lizard
    (Anolis carolinensis)
    Reptilia --
    Uncharacterized protein
    97(a)
    many ↔ many
    4(42479416-42482824)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia 1420325682   -- 82.86(n)    142032568 
    zebrafish
    (Danio rerio)
    Actinopterygii myl12.21 myosin, light chain 12, genome duplicate 2 79.84(n)
    94.77(a)
      337084  NM_001130589.1  NP_001124061.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta sqh1 spaghetti squash 75.53(n)
    84.18(a)
      31554  NM_078502.2  NP_511057.1 
    worm
    (Caenorhabditis elegans)
    Secernentea mlc-41 mlc-4 70.46(n)
    75.95(a)
      175440  NM_065299.4  NP_497700.1 


    ENSEMBL Gene Tree for MYL12B (if available)
    TreeFam Gene Tree for MYL12B (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section

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    Paralogs for MYL12B gene
    MYL12A2  MYL102  MYL72  MYL92  MYL52  MYL22  MYLPF2  
    Selected SIMAP similar genes for MYL12B using alignment to 1 protein entry:     ML12B_HUMAN(see all similar genes):
    MYL12A    MYL9    MYLPF    MYL5    MYL2    CALM1
    CALM2    MYL7    CALM3    CALML3    MYL10    TNNC2
    TNNC1    MYL6    CABP2    CABP5    CALML4    CETN1

    Find genes that share paralogs with MYL12B           About GenesLikeMe


    Selected Pseudogenes.org Pseudogenes for MYL12B (see all 7)
    PGOHUM00000247098 PGOHUM00000245783 PGOHUM00000243594 PGOHUM00000245416 PGOHUM00000236897


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for MYL12B (see all 432)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 18 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs2009340451,2
    C--3250041(+) GTAGT-/GCATTA 1 -- us2k10--------
    rs597571371,2
    C--3250205(+) GAAAC-/TTTTTT 1 -- us2k12Minor allele frequency- T:0.25NA CSA 4
    rs761386421,2
    C--3250216(+) TTTTTT/AAATTT 1 -- us2k11Minor allele frequency- A:0.50NA 2
    rs778233691,2
    C--3250218(+) TTTTAA/TTTTAG 1 -- us2k10--------
    rs759908611,2
    C,F--3250246(+) TAAGAG/ATAAAT 1 -- us2k12Minor allele frequency- A:0.02CSA WA 120
    rs1886162331,2
    --3250265(+) ACCAGA/GTGTGA 1 -- us2k10--------
    rs13730001,2
    C,F,A,H--3250282(-) AAGCAG/ATTGCT 1 -- us2k124Minor allele frequency- A:0.24NS EA NA WA CSA 2354
    rs16623371,2
    C,F,H--3250372(-) ACACAT/CGATGC 1 -- us2k111Minor allele frequency- C:0.03EA NA NS CSA WA 958
    rs1144934421,2
    F--3250402(+) TATCCT/ACCACC 1 -- us2k11Minor allele frequency- A:0.01WA 118
    rs1402706231,2
    C--3250899(+) TCAAA-/CCAGCC 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for MYL12B (3261907 - 3278282 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for MYL12B:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv1749261CNV Insertion17803354
    nsv131953CNV Insertion16902084
    nsv909317CNV Gain21882294

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing MYL12B
    DNA2.0 Custom Variant and Variant Library Synthesis for MYL12B

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 609211    OMIM disorders: --

    1 disease for MYL12B:    
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    double outlet right ventricle

    1 disease from the University of Copenhagen DISEASES database for MYL12B:
    Double outlet right ventricle

    Find genes that share disorders with MYL12B           About GenesLikeMe

    Genetic Association Database (GAD): MYL12B

    Export disorders for MYL12B gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for MYL12B gene, integrated from 10 sources (see all 43):
    (articles sorted by number of sources associating them with MYL12B)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Diphosphorylated MRLC is required for organization of stress fibers in interphase cells and the contractile ring in dividing cells. (PubMed id 11942626)1, 2, 3 Iwasaki T.... Hosoya H. (Cell Struct. Funct. 2001)
    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. (PubMed id 15946647)1, 2 Umeda D.... Yamada K. (Biochem. Biophys. Res. Commun. 2005)
    3. A Proteomics Strategy for the Identification of FAT10-Modified Sites by Mass Spectrometry. (PubMed id 23862649)1 Leng L....Wang J. (J. Proteome Res. 2014)
    4. The P-body component USP52/PAN2 is a novel regulator of HIF1A mRNA stability. (PubMed id 23398456)1 Bett J.S....Hay R.T. (Biochem. J. 2013)
    5. Methods for quantification of in vivo changes in protein ubiquitination following proteasome and deubiquitinase inhibition. (PubMed id 22505724)1 Udeshi N.D....Carr S.A. (amp 2012)
    6. Proteomic analysis of I+4I^1 integrin adhesion complexes reveals I+-subunit-dependent protein recruitment. (PubMed id 22623428)1 Byron A....Humphries M.J. (Proteomics 2012)
    7. Phosphorylation of myosin II regulatory light chain controls its accumulation, not that of actin, at the contractile ring in HeLa cells. (PubMed id 22374324)1 Kondo T....Hosoya H. (Exp. Cell Res. 2012)
    8. Shotgun proteomics and network analysis of ubiquitin-related proteins from human breast carcinoma epithelial cells. (PubMed id 21853274)1 Zhou J....Liang S. (Mol. Cell. Biochem. 2012)
    9. Diphosphorylated but not monophosphorylated myosin II regulatory light chain localizes to the midzone without its heavy chain during cytokinesis. (PubMed id 22166199)1 Kondo T....Hosoya H. (Biochem. Biophys. Res. Commun. 2012)
    10. Systems-wide analysis of ubiquitylation dynamics reveals a key role for PAF15 ubiquitylation in DNA-damage bypass. (PubMed id 23000965)1 Povlsen L.K....Choudhary C. (Nat. Cell Biol. 2012)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 103910 HGNC: 29827 AceView: MRCL3andMRLC2 Ensembl:ENSG00000118680 euGenes: HUgn103910
    ECgene: MYL12B Kegg: 103910 H-InvDB: MYL12B

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for MYL12B Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for MYL12B gene:
    Search GeneIP for patents involving MYL12B

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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