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    MYL12B myosin, light chain 12B, regulatory [ Homo sapiens ]

    Gene ID: 103910, updated on 19-May-2012

    Summary

    Official Symbol
    MYL12Bprovided by HGNC
    Official Full Name
    myosin, light chain 12B, regulatoryprovided by HGNC
    Primary source
    HGNC:29827
    See related
    Ensembl:ENSG00000118680; HPRD:10095; MIM:609211; Vega:OTTHUMG00000131510
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    MLC-B; MRLC2
    Summary
    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]

    Genomic context

    Location :
    18p11.31
    Sequence :
    Chromosome: 18; NC_000018.9 (3262111..3278282)
    See MYL12B in Epigenomics, MapViewer

    Chromosome 18 - NC_000018.9Genomic Context describing neighboring genes Neighboring gene myomesin 1, 185kDa Neighboring gene RNA, U7 small nuclear 25 pseudogene Neighboring gene uncharacterized LOC100505577 Neighboring gene myosin, light chain 12A, regulatory, non-sarcomeric Neighboring gene ribosomal protein L31 pseudogene 59 Neighboring gene immunoglobulin lambda joining-constant/OR18 (pseudogene)

    Genomic regions, transcripts, and products

    Bibliography

    GeneRIFs: Gene References Into Functions What's a GeneRIF?

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description
    Myosin regulatory light chain MRLC2 Q8WY64 MYLIP    HPRD  PubMed  
    Myosin regulatory light chain MRLC2 Q8N490 PNKD    HPRD  PubMed  
    BioGRID:125182 BioGRID:112497 SUMO2    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:125182 BioGRID:113164 UBC    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:125182 BioGRID:124430 USP45    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:125182 BioGRID:116168 YWHAQ    BioGRID  PubMed Affinity Capture-MS 

    General gene information

    Markers

    Homology

    Pathways from BioSystems

    • Axon guidance, organism-specific biosystem (from REACTOME)
      Axon guidance, organism-specific biosystemAxon guidance / axon pathfinding is the process by which neurons send out axons to reach the correct targets. Growing axons have a highly motile structure at the growing tip called the growth cone, w...
    • Developmental Biology, organism-specific biosystem (from REACTOME)
      Developmental Biology, organism-specific biosystemAs a first step towards capturing the array of processes by which a fertilized egg gives rise to the diverse tissues of the body, examples of three kinds of processes have been annotated. These are a...
    • Focal adhesion, organism-specific biosystem (from KEGG)
      Focal adhesion, organism-specific biosystemCell-matrix adhesions play essential roles in important biological processes including cell motility, cell proliferation, cell differentiation, regulation of gene expression and cell survival. At the...
    • Focal adhesion, conserved biosystem (from KEGG)
      Focal adhesion, conserved biosystemCell-matrix adhesions play essential roles in important biological processes including cell motility, cell proliferation, cell differentiation, regulation of gene expression and cell survival. At the...
    • Leukocyte transendothelial migration, organism-specific biosystem (from KEGG)
      Leukocyte transendothelial migration, organism-specific biosystemLeukocyte migaration from the blood into tissues is vital for immune surveillance and inflammation. During this diapedesis of leukocytes, the leukocytes bind to endothelial cell adhesion molecules (C...
    • Leukocyte transendothelial migration, conserved biosystem (from KEGG)
      Leukocyte transendothelial migration, conserved biosystemLeukocyte migaration from the blood into tissues is vital for immune surveillance and inflammation. During this diapedesis of leukocytes, the leukocytes bind to endothelial cell adhesion molecules (C...
    • Muscle contraction, organism-specific biosystem (from REACTOME)
      Muscle contraction, organism-specific biosystemIn this module, the processes by which calcium binding triggers actin - myosin interactions and force generation in smooth and striated muscle tissues are annotated.
    • Regulation of actin cytoskeleton, organism-specific biosystem (from KEGG)
      Regulation of actin cytoskeleton, organism-specific biosystem
      Regulation of actin cytoskeleton
    • Regulation of actin cytoskeleton, conserved biosystem (from KEGG)
      Regulation of actin cytoskeleton, conserved biosystem
      Regulation of actin cytoskeleton
    • Sema4D in semaphorin signaling, organism-specific biosystem (from REACTOME)
      Sema4D in semaphorin signaling, organism-specific biosystemSemaphorin 4D (Sema 4D/CD100) is an axon guidance molecule with two disulfide-linked 150-kDa subunits. SEMA4D is structurally defined by a conserved 500-amino acid extracellular domain with 16 cyste...
    • Sema4D induced cell migration and growth-cone collapse, organism-specific biosystem (from REACTOME)
      Sema4D induced cell migration and growth-cone collapse, organism-specific biosystemSema4D-mediated attraction of endothelial cells requires Rho, but not R-Ras, signaling. Sema4D-mediated plexinB1 activation activates Rho and its downstream effector ROCK. ROCK then phosphorylates ML...
    • Semaphorin interactions, organism-specific biosystem (from REACTOME)
      Semaphorin interactions, organism-specific biosystemSemaphorins are a large family of cell surface and secreted guidance molecules divided into eight classes on the basis of their structures. They all have an N-terminal conserved sema domain. Semaphor...
    • Smooth Muscle Contraction, organism-specific biosystem (from REACTOME)
      Smooth Muscle Contraction, organism-specific biosystemLayers of smooth muscle cells can be found in the walls of numerous organs and tissues within the body. Smooth muscle tissue lacks the striated banding pattern characteristic of skeletal and cardiac ...
    • Tight junction, organism-specific biosystem (from KEGG)
      Tight junction, organism-specific biosystemEpithelial tight junctions (TJs) are composed of at least three types of transmembrane protein -occludin, claudin and junctional adhesion molecules (JAMs)- and a cytoplasmic 'plaque' consisting of ma...
    • Tight junction, conserved biosystem (from KEGG)
      Tight junction, conserved biosystemEpithelial tight junctions (TJs) are composed of at least three types of transmembrane protein -occludin, claudin and junctional adhesion molecules (JAMs)- and a cytoplasmic 'plaque' consisting of ma...

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    calcium ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    axon guidance TAS
    Traceable Author Statement
    more info
     
    muscle contraction TAS
    Traceable Author Statement
    more info
     
    regulation of cell shape IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    Z disc IEA
    Inferred from Electronic Annotation
    more info
     
    apical part of cell IEA
    Inferred from Electronic Annotation
    more info
     
    cytosol TAS
    Traceable Author Statement
    more info
     
    myosin II complex IEA
    Inferred from Electronic Annotation
    more info
     
    stress fiber IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    myosin regulatory light chain 12B
    Names
    myosin regulatory light chain 12B
    MLC-2
    MLC20
    MLC-2A
    SHUJUN-1
    myosin regulatory light chain 2
    myosin regulatory light chain MRLC2
    myosin regulatory light chain 20 kDa
    myosin regulatory light chain 2-B, smooth muscle isoform

    NCBI Reference Sequences (RefSeq)

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001144944.1NP_001138416.1  myosin regulatory light chain 12B

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript. Variants 1-3 all encode the same protein.
      Source sequence(s)
      BG696903, CA307094
      Consensus CDS
      CCDS11831.1
      UniProtKB/Swiss-Prot
      O14950
      Related
      ENSP00000383037, OTTHUMP00000165807, ENST00000400175, OTTHUMT00000258909
      Conserved Domains (2) summary
      cd00051
      Location:3390
      Blast Score: 99
      EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...
      COG5126
      Location:14169
      Blast Score: 297
      FRQ1; Ca2+-binding protein (EF-Hand superfamily) [Signal transduction mechanisms / Cytoskeleton / Cell division and chromosome partitioning / General function prediction only]
    2. NM_001144945.1NP_001138417.1  myosin regulatory light chain 12B

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR, compared to variant 1. Variants 1-3 all encode the same protein.
      Source sequence(s)
      AP005329, CA307094, CN302451
      Consensus CDS
      CCDS11831.1
      UniProtKB/Swiss-Prot
      O14950
      Conserved Domains (2) summary
      cd00051
      Location:3390
      Blast Score: 99
      EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...
      COG5126
      Location:14169
      Blast Score: 297
      FRQ1; Ca2+-binding protein (EF-Hand superfamily) [Signal transduction mechanisms / Cytoskeleton / Cell division and chromosome partitioning / General function prediction only]
    3. NM_033546.3NP_291024.1  myosin regulatory light chain 12B

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR, compared to variant 1. Variants 1-3 all encode the same protein.
      Source sequence(s)
      AP005329, BG703257, CA307094
      Consensus CDS
      CCDS11831.1
      UniProtKB/Swiss-Prot
      O14950
      Related
      ENSP00000237500, OTTHUMP00000162244, ENST00000237500, OTTHUMT00000254365
      Conserved Domains (2) summary
      cd00051
      Location:3390
      Blast Score: 99
      EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...
      COG5126
      Location:14169
      Blast Score: 297
      FRQ1; Ca2+-binding protein (EF-Hand superfamily) [Signal transduction mechanisms / Cytoskeleton / Cell division and chromosome partitioning / General function prediction only]

    RefSeqs of Annotated Genomes: Build 37.3

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh37.p5 Primary Assembly

    Genomic

    1. NC_000018.9 Reference GRCh37.p5 Primary Assembly

      Range
      3262111..3278282
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000150.1 Alternate HuRef

      Range
      3226523..3243194
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_001144946.1: Suppressed sequence

      Description
      NM_001144946.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript, which aligns to the reference genome with poorly supported non-consensus splice sites.

    Related Sequences

    Nucleotide Protein
    Heading Accession and Version
    genomic AP005329.3 (142560..158666) None
    genomic CH471113.2 EAX01675.1
      EAX01676.1
      EAX01677.1
    mRNA AK291726.1 BAF84415.1
    mRNA AV714583.1 None
    mRNA AY320408.1 AAP73808.1
    mRNA BC004994.1 AAH04994.1
    mRNA BG696903.1 None
    mRNA BG703257.1 None
    mRNA CA307094.1 None
    mRNA CN302451.1 None
    mRNA D50372.1 BAA23323.1
    mRNA D82058.1 BAB88918.1
    mRNA U26162.1 AAA67367.1
    Protein Accession Links
    GenPept Link UniProtKB Link
    O14950.2 GenPept UniProtKB/Swiss-Prot:O14950

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