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    MYL12B myosin light chain 12B [ Homo sapiens (human) ]

    Gene ID: 103910, updated on 5-Mar-2024

    Summary

    Official Symbol
    MYL12Bprovided by HGNC
    Official Full Name
    myosin light chain 12Bprovided by HGNC
    Primary source
    HGNC:HGNC:29827
    See related
    Ensembl:ENSG00000118680 MIM:609211; AllianceGenome:HGNC:29827
    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]
    Expression
    Ubiquitous expression in colon (RPKM 243.9), lung (RPKM 208.5) and 25 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See MYL12B in Genome Data Viewer
    Location:
    18p11.31
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 18 NC_000018.10 (3262133..3278461)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 18 NC_060942.1 (3421438..3437816)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 18 NC_000018.9 (3262131..3278459)

    Chromosome 18 - NC_000018.10Genomic Context describing neighboring genes Neighboring gene myomesin 1 Neighboring gene RNA, U7 small nuclear 25 pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13037 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13038 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13039 Neighboring gene Sharpr-MPRA regulatory region 2253 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13040 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9252 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13041 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13042 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9253 Neighboring gene MYL12A and MYL12B antisense RNA 1 Neighboring gene myosin light chain 12A Neighboring gene Sharpr-MPRA regulatory region 9674 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13043 Neighboring gene CRISPRi-validated cis-regulatory element chr18.117 Neighboring gene long intergenic non-protein coding RNA 1895 Neighboring gene ribosomal protein L31 pseudogene 59

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    EBI GWAS Catalog

    Description
    Genetically distinct subsets within ANCA-associated vasculitis.
    EBI GWAS Catalog
    Genome-wide data reveal novel genes for methotrexate response in a large cohort of juvenile idiopathic arthritis cases.
    EBI GWAS Catalog

    HIV-1 interactions

    Protein interactions

    Protein Gene Interaction Pubs
    Tat tat Treatment of human brain endothelial cells with Tat markedly elevates GTP-RhoA levels and the potential downstream effectors, such as myosin phosphatase target subunit 1 and myosin light chain PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables calcium ion binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables myosin heavy chain binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in regulation of cell shape IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    located_in Z disc IEA
    Inferred from Electronic Annotation
    more info
     
    located_in apical part of cell IEA
    Inferred from Electronic Annotation
    more info
     
    located_in brush border IEA
    Inferred from Electronic Annotation
    more info
     
    located_in cell cortex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    located_in extracellular exosome HDA PubMed 
    is_active_in myofibril IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    part_of myosin II complex IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in stress fiber IBA
    Inferred from Biological aspect of Ancestor
    more info
     

    General protein information

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

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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

      See identical proteins and their annotated locations for NP_001138416.1

      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
      D3DUH6, O14950, Q13182, Q7Z5Z4
      UniProtKB/TrEMBL
      Q53HL1
      Related
      ENSP00000383037.5, ENST00000400175.9
      Conserved Domains (1) summary
      COG5126
      Location:19169
      FRQ1; Ca2+-binding protein, EF-hand superfamily [Signal transduction mechanisms]
    2. NM_001144945.1NP_001138417.1  myosin regulatory light chain 12B

      See identical proteins and their annotated locations for NP_001138417.1

      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
      D3DUH6, O14950, Q13182, Q7Z5Z4
      UniProtKB/TrEMBL
      Q53HL1
      Related
      ENSP00000463559.1, ENST00000581193.5
      Conserved Domains (1) summary
      COG5126
      Location:19169
      FRQ1; Ca2+-binding protein, EF-hand superfamily [Signal transduction mechanisms]
    3. NM_033546.4NP_291024.1  myosin regulatory light chain 12B

      See identical proteins and their annotated locations for NP_291024.1

      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, CA307094
      Consensus CDS
      CCDS11831.1
      UniProtKB/Swiss-Prot
      D3DUH6, O14950, Q13182, Q7Z5Z4
      UniProtKB/TrEMBL
      Q53HL1
      Related
      ENSP00000237500.5, ENST00000237500.10
      Conserved Domains (1) summary
      COG5126
      Location:19169
      FRQ1; Ca2+-binding protein, EF-hand superfamily [Signal transduction mechanisms]

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000018.10 Reference GRCh38.p14 Primary Assembly

      Range
      3262133..3278461
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060942.1 Alternate T2T-CHM13v2.0

      Range
      3421438..3437816
      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.