Free for academic non-profit institutions. Other users need a Commercial license

Aliases for MYLPF Gene

Aliases for MYLPF Gene

  • Myosin Light Chain, Phosphorylatable, Fast Skeletal Muscle 2 3 5
  • Myosin, Light Chain 11, Regulatory 2 3
  • Fast Skeletal Myosin Light Chain 2 3 4
  • MLC2B 3 4
  • Myosin Regulatory Light Chain 2, Skeletal Muscle Isoform 3
  • Myosin Regulatory Light Chain 2 2
  • Myosin Light Chain 2 3
  • HUMMLC2B 3
  • MRLC2 3
  • MYL11 3

External Ids for MYLPF Gene

Previous GeneCards Identifiers for MYLPF Gene

  • GC16P030294
  • GC16P030297
  • GC16P030387
  • GC16P027947

Summaries for MYLPF Gene

GeneCards Summary for MYLPF Gene

MYLPF (Myosin Light Chain, Phosphorylatable, Fast Skeletal Muscle) is a Protein Coding gene. Among its related pathways are Cardiac conduction and PAK Pathway. Gene Ontology (GO) annotations related to this gene include calcium ion binding and structural constituent of muscle. An important paralog of this gene is MYL10.

Additional gene information for MYLPF Gene

No data available for Entrez Gene Summary , CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MYLPF Gene

Genomics for MYLPF Gene

GeneHancer (GH) Regulatory Elements for MYLPF Gene

Promoters and enhancers for MYLPF Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH16I030367 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 587.5 +5.1 5098 17 CLOCK FEZF1 DMAP1 IRF4 YY1 SLC30A9 ZNF213 E2F8 ZNF143 SP3 MYLPF ZNF48 TBC1D10B SEPT1 SETD1A SRCAP INO80E NPIPB12 SMG1P5 ZNF764
GH16I030393 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 11.6 +24.2 24192 2.9 MLX ARNT ZFP64 ARID4B SIN3A FEZF1 DMAP1 ZNF2 ZBTB7B SLC30A9 SEPT1 ZNF48 SETD1A FUS INO80E SRCAP ZNF785 ZNF764 ZNF689 SMG1P5
GH16I030416 Enhancer 1.4 FANTOM5 Ensembl ENCODE 11.4 +46.9 46875 2.4 CLOCK ARNT SIN3A GLIS2 ELK1 ZNF207 ZNF143 KLF7 RUNX3 ZNF488 GC16M030421 SNORA80C CD2BP2 SEPT1 TBC1D10B MYLPF ENSG00000239791 ZNF688 ZNF785 ZNF689
GH16I029742 Promoter/Enhancer 2.2 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 3.7 -625.8 -625802 5.4 HDGF BMI1 BATF KLF5 IRF4 ZNF207 ETV6 BCLAF1 IKZF2 RUNX3 C16orf54 ENSG00000260719 RN7SKP127 TBX6 YPEL3 MYLPF CORO1A PPP4C GC16M029747
GH16I029783 Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 4.1 -586.4 -586449 2.6 PKNOX1 MLX ZFP64 ARID4B NEUROD1 SIN3A DMAP1 YY1 ZNF766 CBX5 C16orf92 NPIPB13 NPIPB12 SRCAP ENSG00000260853 ZNF747 INO80E SPNS1 SMG1P5 ATXN2L
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around MYLPF on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the MYLPF gene promoter:

Genomic Locations for MYLPF Gene

Genomic Locations for MYLPF Gene
chr16:30,370,934-30,377,991
(GRCh38/hg38)
Size:
7,058 bases
Orientation:
Plus strand
chr16:30,382,255-30,389,312
(GRCh37/hg19)

Genomic View for MYLPF Gene

Genes around MYLPF on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MYLPF Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MYLPF Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MYLPF Gene

Proteins for MYLPF Gene

  • Protein details for MYLPF Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96A32-MLRS_HUMAN
    Recommended name:
    Myosin regulatory light chain 2, skeletal muscle isoform
    Protein Accession:
    Q96A32
    Secondary Accessions:
    • B2RA83
    • Q14843
    • Q6IB41

    Protein attributes for MYLPF Gene

    Size:
    169 amino acids
    Molecular mass:
    19015 Da
    Quaternary structure:
    • Myosin is a hexamer of 2 heavy chains and 4 light chains.
    Miscellaneous:
    • This chain binds calcium.

neXtProt entry for MYLPF Gene

Post-translational modifications for MYLPF Gene

No Post-translational modifications

Other Protein References for MYLPF Gene

No data available for DME Specific Peptides for MYLPF Gene

Domains & Families for MYLPF Gene

Gene Families for MYLPF Gene

Protein Domains for MYLPF Gene

Suggested Antigen Peptide Sequences for MYLPF Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with MYLPF: view

No data available for UniProtKB/Swiss-Prot for MYLPF Gene

Function for MYLPF Gene

Gene Ontology (GO) - Molecular Function for MYLPF Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005509 calcium ion binding IEA --
GO:0008307 structural constituent of muscle ISS,IEA --
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with MYLPF: view
genes like me logo Genes that share phenotypes with MYLPF: view

Animal Models for MYLPF Gene

MGI Knock Outs for MYLPF:

Animal Model Products

miRNA for MYLPF Gene

miRTarBase miRNAs that target MYLPF

Clone Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for MYLPF Gene

Localization for MYLPF Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for MYLPF gene
Compartment Confidence
cytoskeleton 5
cytosol 5
lysosome 5
mitochondrion 2
nucleus 1

Gene Ontology (GO) - Cellular Components for MYLPF Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005765 lysosomal membrane IDA,HDA 17897319
GO:0005829 cytosol TAS --
GO:0005859 muscle myosin complex TAS 6179945
GO:0016459 myosin complex IEA --
genes like me logo Genes that share ontologies with MYLPF: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Subcellular locations from the Human Protein Atlas (HPA) for MYLPF Gene

Pathways & Interactions for MYLPF Gene

genes like me logo Genes that share pathways with MYLPF: view

Gene Ontology (GO) - Biological Process for MYLPF Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006936 muscle contraction TAS --
GO:0006955 immune response IEA --
GO:0007519 skeletal muscle tissue development IEA,ISS --
genes like me logo Genes that share ontologies with MYLPF: view

No data available for SIGNOR curated interactions for MYLPF Gene

Drugs & Compounds for MYLPF Gene

(1) Drugs for MYLPF Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
calcium Approved Nutra 0
genes like me logo Genes that share compounds with MYLPF: view

Transcripts for MYLPF Gene

Unigene Clusters for MYLPF Gene

Myosin light chain, phosphorylatable, fast skeletal muscle:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for MYLPF Gene

ExUns: 1 ^ 2 ^ 3a · 3b ^ 4 ^ 5a · 5b ^ 6 ^ 7a · 7b ^ 8 ^ 9a · 9b
SP1:
SP2: -
SP3: -
SP4:

Relevant External Links for MYLPF Gene

GeneLoc Exon Structure for
MYLPF
ECgene alternative splicing isoforms for
MYLPF

Expression for MYLPF Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for MYLPF Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for MYLPF Gene

This gene is overexpressed in Muscle - Skeletal (x51.8).

Protein differential expression in normal tissues from HIPED for MYLPF Gene

This gene is overexpressed in Esophagus (20.4), Kidney (16.8), Tonsil (16.3), and Stomach (13.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for MYLPF Gene



NURSA nuclear receptor signaling pathways regulating expression of MYLPF Gene:

MYLPF

SOURCE GeneReport for Unigene cluster for MYLPF Gene:

Hs.50889

mRNA Expression by UniProt/SwissProt for MYLPF Gene:

Q96A32-MLRS_HUMAN
Tissue specificity: Expressed in fetal and adult skeletal muscle.

Evidence on tissue expression from TISSUES for MYLPF Gene

  • Muscle(4.9)
  • Heart(2.8)
genes like me logo Genes that share expression patterns with MYLPF: view

No data available for Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for MYLPF Gene

Orthologs for MYLPF Gene

This gene was present in the common ancestor of animals.

Orthologs for MYLPF Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia MYLPF 34
  • 100 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia MYLPF 34
  • 96 (a)
OneToOne
dog
(Canis familiaris)
Mammalia MYLPF 34 33
  • 92.5 (n)
OneToOne
cow
(Bos Taurus)
Mammalia MYLPF 33 34
  • 91.52 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia MYLPF 34
  • 89 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Mylpf 33 16 34
  • 88.76 (n)
rat
(Rattus norvegicus)
Mammalia Mylpf 33
  • 87.77 (n)
lizard
(Anolis carolinensis)
Reptilia MYLPF 34
  • 62 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia mylpf 33
  • 81.26 (n)
MGC75669 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.6263 33
zebrafish
(Danio rerio)
Actinopterygii mylpfa 34
  • 81 (a)
OneToMany
mylpfb 33 34
  • 75.74 (n)
mylz2 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.9038 33
worm
(Caenorhabditis elegans)
Secernentea mlc-2 33
  • 58.7 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.11077 34
  • 54 (a)
ManyToMany
CSA.10194 34
  • 53 (a)
ManyToMany
Species where no ortholog for MYLPF was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for MYLPF Gene

ENSEMBL:
Gene Tree for MYLPF (if available)
TreeFam:
Gene Tree for MYLPF (if available)

Paralogs for MYLPF Gene

Paralogs for MYLPF Gene

(11) SIMAP similar genes for MYLPF Gene using alignment to 4 proteins:

genes like me logo Genes that share paralogs with MYLPF: view

Variants for MYLPF Gene

Sequence variations from dbSNP and Humsavar for MYLPF Gene

SNP ID Clin Chr 16 pos Variation AA Info Type
rs386352335 uncertain-significance, not provided 30,377,821(+) C/A/T coding_sequence_variant, missense_variant
rs1000240179 -- 30,370,833(+) AA/ upstream_transcript_variant
rs1000385193 -- 30,377,215(+) AAAAAAAA/AAAAAAAAA intron_variant
rs1000653113 -- 30,369,674(+) C/A/G upstream_transcript_variant
rs1000845733 -- 30,372,528(+) C/G genic_upstream_transcript_variant, intron_variant

Structural Variations from Database of Genomic Variants (DGV) for MYLPF Gene

Variant ID Type Subtype PubMed ID
nsv827612 CNV gain 20364138

Variation tolerance for MYLPF Gene

Residual Variation Intolerance Score: 50.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.85; 17.70% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for MYLPF Gene

Human Gene Mutation Database (HGMD)
MYLPF
SNPedia medical, phenotypic, and genealogical associations of SNPs for
MYLPF

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MYLPF Gene

Disorders for MYLPF Gene

Additional Disease Information for MYLPF

No disorders were found for MYLPF Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for MYLPF Gene

Publications for MYLPF Gene

  1. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58
  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. (PMID: 14756420) Sachdev S … Sarkar S (DNA sequence : the journal of DNA sequencing and mapping 2003) 3 4 58
  3. Cloning and characterization of cDNA sequences corresponding to myosin light chains 1, 2, and 3, troponin-C, troponin-T, alpha-tropomyosin, and alpha-actin. (PMID: 6179945) Garfinkel LI … Nadal-Ginard B (The Journal of biological chemistry 1982) 2 3 58
  4. Systematic proteomics of the VCP-UBXD adaptor network identifies a role for UBXN10 in regulating ciliogenesis. (PMID: 26389662) Raman M … Harper JW (Nature cell biology 2015) 3 58
  5. Characterization of myosin II regulatory light chain isoforms in HeLa cells. (PMID: 26663899) Kondo T … Hamao K (Cytoskeleton (Hoboken, N.J.) 2015) 3 58

Products for MYLPF Gene

Sources for MYLPF Gene

Content
Loading form....