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MYLPF myosin light chain, phosphorylatable, fast skeletal muscle [ Homo sapiens (human) ]

Gene ID: 29895, updated on 8-Jul-2021

Summary

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Official Symbol
MYLPFprovided by HGNC
Official Full Name
myosin light chain, phosphorylatable, fast skeletal muscleprovided by HGNC
Primary source
HGNC:HGNC:29824
See related
Ensembl:ENSG00000180209 MIM:617378
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
DA1C; MLC2B; MRLC2; MYL11; HUMMLC2B
Expression
Biased expression in prostate (RPKM 32.5) and esophagus (RPKM 15.3) See more
Orthologs
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Genomic context

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See MYLPF in Genome Data Viewer
Location:
16p11.2
Exon count:
10
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 16 NC_000016.10 (30370934..30377991)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (30382255..30389312)

Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory region 48 Neighboring gene CD2 cytoplasmic tail binding protein 2 Neighboring gene CD2BP2 divergent transcript Neighboring gene TBC1 domain family member 10B Neighboring gene Sharpr-MPRA regulatory region 9884 Neighboring gene septin 1 Neighboring gene zinc finger protein 48 Neighboring gene zinc finger protein 771

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
  • 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. Characterization of myosin II regulatory light chain isoforms in HeLa cells. Kondo T, et al. Cytoskeleton (Hoboken), 2015 Dec. PMID 26663899
  2. Human fast skeletal myosin light chain 2 cDNA: isolation, tissue specific expression of the single copy gene, comparative sequence analysis of isoforms and evolutionary relationships. Sachdev S, et al. DNA Seq, 2003 Oct. PMID 14756420
  3. The nucleotide sequence of a rat myosin light chain 2 gene. Nudel U, et al. Nucleic Acids Res, 1984 Sep 25. PMID 6091059, Free PMC Article
  4. Mutations in MYLPF Cause a Novel Segmental Amyoplasia that Manifests as Distal Arthrogryposis. Chong JX, et al. Am J Hum Genet, 2020 Aug 6. PMID 32707087, Free PMC Article
  5. Cloning and characterization of cDNA sequences corresponding to myosin light chains 1, 2, and 3, troponin-C, troponin-T, alpha-tropomyosin, and alpha-actin. Garfinkel LI, et al. J Biol Chem, 1982 Sep 25. PMID 6179945

See all (16) citations in PubMed

See citations in PubMed for homologs of this gene provided by HomoloGene

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Mutations in MYLPF Cause a Novel Segmental Amyoplasia that Manifests as Distal Arthrogryposis.
    Title: Mutations in MYLPF Cause a Novel Segmental Amyoplasia that Manifests as Distal Arthrogryposis.
  2. A cDNA clone encoding human fast skeletal myosin regulatory light chain (HSRLC) has been isolated and characterized from a fetal muscle cDNA library.
    Title: Human fast skeletal myosin light chain 2 cDNA: isolation, tissue specific expression of the single copy gene, comparative sequence analysis of isoforms and evolutionary relationships.
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

Associated conditions

Description Tests
Arthrogryposis, distal, type 1C
MedGen: C5436834 OMIM: 619110 GeneReviews: Not available
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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

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

Clone Names

  • MGC13450, DKFZp779C0757

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables calcium ion binding IEA
Inferred from Electronic Annotation
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables structural constituent of muscle ISS
Inferred from Sequence or Structural Similarity
more info
  
Process Evidence Code Pubs
involved_in immune response IEA
Inferred from Electronic Annotation
more info
  
involved_in skeletal muscle tissue development ISS
Inferred from Sequence or Structural Similarity
more info
  
Component Evidence Code Pubs
located_in cytosol TAS
Traceable Author Statement
more info
  
located_in lysosomal membrane HDA PubMed 
part_of muscle myosin complex TAS
Traceable Author Statement
more info
 PubMed 

General protein information

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Preferred Names
myosin regulatory light chain 2, skeletal muscle isoform
Names
fast skeletal myosin light chain 2
myosin light chain 2
myosin, light chain 11, 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.

Genomic

  1. NG_050592.1 RefSeqGene

    Range
    5001..12058
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001324458.2 → NP_001311387.1  myosin regulatory light chain 2, skeletal muscle isoform

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) and variants 1 and 3 all encode the same protein.
    Source sequence(s)
    AA662706, AC127457, BC012571, BI837593
    Consensus CDS
    CCDS10677.1
    UniProtKB/Swiss-Prot
    Q96A32
    UniProtKB/TrEMBL
    A0A024QZG6
    Conserved Domains (1) summary
    COG5126
    Location:15 → 154
    FRQ1; Ca2+-binding protein, EF-hand superfamily [Signal transduction mechanisms]

  2. NM_001324459.2 → NP_001311388.1  myosin regulatory light chain 2, skeletal muscle isoform

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) and variants 1 and 2 all encode the same protein.
    Source sequence(s)
    AA662706, BC012571, BI828249
    Consensus CDS
    CCDS10677.1
    UniProtKB/Swiss-Prot
    Q96A32
    UniProtKB/TrEMBL
    A0A024QZG6
    Conserved Domains (1) summary
    COG5126
    Location:15 → 154
    FRQ1; Ca2+-binding protein, EF-hand superfamily [Signal transduction mechanisms]

  3. NM_013292.5 → NP_037424.2  myosin regulatory light chain 2, skeletal muscle isoform

    See identical proteins and their annotated locations for NP_037424.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) is the predominant variant. Variants 1, 2, and 3 all encode the same protein.
    Source sequence(s)
    AA662706, AK314082
    Consensus CDS
    CCDS10677.1
    UniProtKB/Swiss-Prot
    Q96A32
    UniProtKB/TrEMBL
    A0A024QZG6
    Related
    ENSP00000325239.7, ENST00000322861.12
    Conserved Domains (1) summary
    COG5126
    Location:15 → 154
    FRQ1; Ca2+-binding protein, EF-hand superfamily [Signal transduction mechanisms]

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000016.10 Reference GRCh38.p13 Primary Assembly

    Range
    30370934..30377991
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q96A32.1 GenPept UniProtKB/Swiss-Prot:Q96A32

Gene LinkOut

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