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    MYL7 myosin light chain 7 [ Homo sapiens (human) ]

    Gene ID: 58498, updated on 28-Oct-2024

    Summary

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    Official Symbol
    MYL7provided by HGNC
    Official Full Name
    myosin light chain 7provided by HGNC
    Primary source
    HGNC:HGNC:21719
    See related
    Ensembl:ENSG00000106631 MIM:613993; AllianceGenome:HGNC:21719
    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
    MYL2A; MYLC2A
    Summary
    Predicted to enable calcium ion binding activity. Predicted to be involved in cardiac muscle tissue development and heart contraction. Located in A band. [provided by Alliance of Genome Resources, Oct 2024]
    Expression
    Restricted expression toward heart (RPKM 2260.5) See more
    Orthologs
    mouse all
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    Genomic context

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    See MYL7 in Genome Data Viewer
    Location:
    7p13
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (44138864..44141332, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (44297418..44302609, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (44178463..44180931, complement)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene DNA polymerase delta 2, accessory subunit Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:44163329-44164233 Neighboring gene RNA, 5S ribosomal pseudogene 230 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:44178085-44178585 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:44179743-44180585 Neighboring gene uncharacterized LOC105375258 Neighboring gene glucokinase Neighboring gene uncharacterized LOC105375257 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:44223563-44224100

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues 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

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    Related articles in PubMed

    1. [Expression and function of non-muscle myosin-IIA in Fechtner syndrome]. Yang HY, et al. Zhongguo Shi Yan Xue Ye Xue Za Zhi, 2008 Aug. PMID 18718080
    2. Functional divergence of human cytoplasmic myosin II: kinetic characterization of the non-muscle IIA isoform. Kovács M, et al. J Biol Chem, 2003 Oct 3. PMID 12847096
    3. The human adult cardiomyocyte phenotype. Bird SD, et al. Cardiovasc Res, 2003 May 1. PMID 12757876
    4. Differential regulation of the atrial isoforms of the myosin light chains during striated muscle development. Hailstones D, et al. J Biol Chem, 1992 Nov 15. PMID 1429676
    5. Key role of myosin light chain (MLC) kinase-mediated MLC2a phosphorylation in the alpha 1-adrenergic positive inotropic effect in human atrium. Grimm M, et al. Cardiovasc Res, 2005 Jan 1. PMID 15621049

    See all (16) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Dominant-negative effect of NMMHC-IIA is involved in the formation of inclusion bodies in Fechtner syndrome.
      Title: [Expression and function of non-muscle myosin-IIA in Fechtner syndrome].
    2. Nonmuscle Myosin Type IIA has distinct enzymatic properties that may be of importance in carrying out its cellular functions
      Title: Functional divergence of human cytoplasmic myosin II: kinetic characterization of the non-muscle IIA isoform.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    HIV-1 interactions

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    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

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables calcium ion binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in cardiac muscle tissue development IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in heart contraction IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    located_in A band 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 dendritic spine IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in myofibril IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of myosin complex NAS
    Non-traceable Author Statement
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    myosin regulatory light chain 2, atrial isoform
    Names
    MLC-2a
    MLC2a
    myosin light chain 2a
    myosin regulatory light chain 7
    myosin, light chain 7, regulatory
    myosin, light polypeptide 7, regulatory

    NCBI Reference Sequences (RefSeq)

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    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_021223.3 → NP_067046.1  myosin regulatory light chain 2, atrial isoform

      See identical proteins and their annotated locations for NP_067046.1

      Status: VALIDATED

      Source sequence(s)
      AC006454, BC027915, W17098
      Consensus CDS
      CCDS5478.1
      UniProtKB/Swiss-Prot
      B2R4L3, Q01449
      UniProtKB/TrEMBL
      H7BZE4
      Related
      ENSP00000223364.3, ENST00000223364.7
      Conserved Domains (1) summary
      PTZ00184
      Location:28 → 168
      PTZ00184; calmodulin; Provisional

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000007.14 Reference GRCh38.p14 Primary Assembly

      Range
      44138864..44141332 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017012478.2 → XP_016867967.1  myosin regulatory light chain 2, atrial isoform isoform X5

    2. XM_011515464.3 → XP_011513766.1  myosin regulatory light chain 2, atrial isoform isoform X2

      See identical proteins and their annotated locations for XP_011513766.1

      UniProtKB/TrEMBL
      H7BZE4
      Conserved Domains (1) summary
      PTZ00184
      Location:28 → 143
      PTZ00184; calmodulin; Provisional

    3. XM_005249817.5 → XP_005249874.1  myosin regulatory light chain 2, atrial isoform isoform X4

      Conserved Domains (2) summary
      PTZ00184
      Location:28 → 149
      PTZ00184; calmodulin; Provisional
      pfam13833
      Location:72 → 117
      EF-hand_8; EF-hand domain pair

    4. XM_024446851.2 → XP_024302619.1  myosin regulatory light chain 2, atrial isoform isoform X3

      UniProtKB/TrEMBL
      H7BZE4
      Related
      ENSP00000389202.1, ENST00000457314.5
      Conserved Domains (1) summary
      cl25352
      Location:28 → 191
      EFh_PEF; The penta-EF hand (PEF) family

    5. XM_011515463.3 → XP_011513765.1  myosin regulatory light chain 2, atrial isoform isoform X1

      UniProtKB/TrEMBL
      H7BZE4
      Conserved Domains (2) summary
      pfam13499
      Location:62 → 154
      EF-hand_7; EF-hand domain pair
      pfam13833
      Location:72 → 157
      EF-hand_8; EF-hand domain pair

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060931.1 Alternate T2T-CHM13v2.0

      Range
      44297418..44302609 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054358748.1 → XP_054214723.1  myosin regulatory light chain 2, atrial isoform isoform X3

    2. XM_054358750.1 → XP_054214725.1  myosin regulatory light chain 2, atrial isoform isoform X5

    3. XM_054358747.1 → XP_054214722.1  myosin regulatory light chain 2, atrial isoform isoform X2

    4. XM_054358749.1 → XP_054214724.1  myosin regulatory light chain 2, atrial isoform isoform X4

    5. XM_054358746.1 → XP_054214721.1  myosin regulatory light chain 2, atrial isoform isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q01449.1 GenPept UniProtKB/Swiss-Prot:Q01449

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