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

Gene ID: 58498, updated on 2-Nov-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, Nov 2024]
Expression
Restricted expression toward heart (RPKM 2260.5) See more
Orthologs
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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)

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

Gene LinkOut

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