Aliases for MYLPF Gene

Aliases for MYLPF Gene

  • Myosin Light Chain, Phosphorylatable, Fast Skeletal Muscle 2 3 5
  • Myosin Regulatory Light Chain 2, Skeletal Muscle Isoform 3 4
  • Myosin, Light Chain 11, Regulatory 2 3
  • Fast Skeletal Myosin Light Chain 2 3 4
  • HUMMLC2B 2 3
  • MLC2B 3 4
  • MRLC2 2 3
  • MYL11 2 3
  • Myosin Regulatory Light Chain 2 2
  • Myosin Light Chain 2 3
  • MYLPF 5
  • DA1C 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. Diseases associated with MYLPF include Arthrogryposis, Distal, Type 1C and Distal Arthrogryposis. Among its related pathways are Immune response CCR3 signaling in eosinophils and Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases. 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.

No data available for Entrez Gene Summary , CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for MYLPF Gene

Genomics for MYLPF Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for MYLPF Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around MYLPF on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for MYLPF

Top Transcription factor binding sites by QIAGEN in the MYLPF gene promoter:
  • Bach1
  • C/EBPalpha
  • Elk-1
  • HFH-1
  • HOXA9
  • HOXA9B
  • Meis-1
  • Meis-1b
  • p53

Genomic Locations for MYLPF Gene

Latest Assembly
chr16:30,370,934-30,377,991
(GRCh38/hg38)
Size:
7,058 bases
Orientation:
Plus strand

Previous Assembly
chr16:30,382,255-30,389,312
(GRCh37/hg19 by Entrez Gene)
Size:
7,058 bases
Orientation:
Plus strand

chr16:30,382,255-30,389,312
(GRCh37/hg19 by Ensembl)
Size:
7,058 bases
Orientation:
Plus strand

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

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

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

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for MYLPF Gene

Suggested Antigen Peptide Sequences for MYLPF Gene

GenScript: Design optimal peptide antigens:
  • MLC2B (MLRS_HUMAN)
genes like me logo Genes that share domains with MYLPF: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for MYLPF Gene

Function for MYLPF Gene

Phenotypes From GWAS Catalog 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:0005515 protein binding IPI 32814053
GO:0008307 structural constituent of muscle IEA,ISS --
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:

miRNA for MYLPF Gene

miRTarBase miRNAs that target MYLPF

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MYLPF

No data available for Molecular function , Enzyme Numbers (IUBMB) , 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 4
mitochondrion 3
plasma membrane 2
extracellular 2
nucleus 2
endoplasmic reticulum 2
peroxisome 1
endosome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for MYLPF Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005765 lysosomal membrane 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

PathCards logo

SuperPathways for MYLPF Gene

SuperPathway Contained pathways
1 Activation of cAMP-Dependent PKA
.77
.77
.71
.56
2 Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases
.49
.49
.42
.32
3 PAK Pathway
.56
.56
.36
4 Actin Nucleation by ARP-WASP Complex
.66
.35
5 RhoGDI Pathway
.33
.33
genes like me logo Genes that share pathways with MYLPF: view

Pathways by source for MYLPF Gene

6 GeneGo (Thomson Reuters) pathways for MYLPF Gene
  • Cell adhesion Integrin-mediated cell adhesion and migration
  • Cell adhesion Tight junctions
  • Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases
  • Development MAG-dependent inhibition of neurite outgrowth
  • Immune response CCR3 signaling in eosinophils
16 Qiagen pathways for MYLPF Gene
  • Actin Nucleation by ARP-WASP Complex
  • Activation of cAMP-Dependent PKA
  • Activation of PKA through GPCR
  • Antioxidant Action of Vitamin-C
  • cAMP Pathway

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 Nutra 6959
genes like me logo Genes that share compounds with MYLPF: view

Transcripts for MYLPF Gene

mRNA/cDNA for MYLPF Gene

3 REFSEQ mRNAs :
10 NCBI additional mRNA sequence :
5 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MYLPF

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

Expression for MYLPF Gene

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



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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(3.3)
  • Nervous system(2.5)
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 30
  • 100 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia MYLPF 30
  • 96 (a)
OneToOne
Dog
(Canis familiaris)
Mammalia MYLPF 29 30
  • 92.5 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia MYLPF 29 30
  • 91.52 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia MYLPF 30
  • 89 (a)
OneToOne
Mouse
(Mus musculus)
Mammalia Mylpf 29 16 30
  • 88.76 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Mylpf 29
  • 87.77 (n)
Lizard
(Anolis carolinensis)
Reptilia MYLPF 30
  • 62 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia mylpf 29
  • 81.26 (n)
MGC75669 29
African clawed frog
(Xenopus laevis)
Amphibia Xl.6263 29
Zebrafish
(Danio rerio)
Actinopterygii mylpfa 30
  • 81 (a)
OneToMany
mylpfb 29 30
  • 75.74 (n)
OneToMany
mylz2 29
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.9038 29
Worm
(Caenorhabditis elegans)
Secernentea mlc-2 29
  • 58.7 (n)
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.11077 30
  • 54 (a)
ManyToMany
CSA.10194 30
  • 53 (a)
ManyToMany
Species where no ortholog for MYLPF was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for MYLPF: view image
Alliance of Genome Resources:
Additional Orthologs for MYLPF

Paralogs for MYLPF Gene

Paralogs for MYLPF Gene

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

  • MLRS_HUMAN
  • H3BML9_HUMAN
  • H3BN54_HUMAN
  • H3BPK4_HUMAN
genes like me logo Genes that share paralogs with MYLPF: view

Variants for MYLPF Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for MYLPF Gene

SNP ID Clinical significance and condition Chr 16 pos Variation AA Info Type
916685 Likely Pathogenic: Distal arthrogryposis 30,377,860(+) G/T
NM_013292.5(MYLPF):c.470G>T (p.Cys157Phe)
MISSENSE
916686 Likely Pathogenic: Distal arthrogryposis 30,377,859(+) T/C
NM_013292.5(MYLPF):c.469T>C (p.Cys157Arg)
MISSENSE
916687 Pathogenic/Likely Pathogenic: Distal arthrogryposis; ARTHROGRYPOSIS, DISTAL, TYPE 1C 30,377,877(+) G/A
NM_013292.5(MYLPF):c.487G>A (p.Gly163Ser)
MISSENSE
916688 Pathogenic/Likely Pathogenic: Distal arthrogryposis; ARTHROGRYPOSIS, DISTAL, TYPE 1C 30,376,146(+) C/T
NM_013292.5(MYLPF):c.98C>T (p.Ala33Val)
MISSENSE
rs386352335 Uncertain Significance: not provided 30,377,821(+) C/A
NM_013292.5(MYLPF):c.431C>A (p.Pro144His)
MISSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for MYLPF Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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
Leiden Open Variation Database (LOVD)
MYLPF

SNP Genotyping and Copy Number Assays for research

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

Disorders for MYLPF Gene

MalaCards: The human disease database

(5) MalaCards diseases for MYLPF Gene - From: OMI, CVR, COP, and GCD

Disorder Aliases PubMed IDs
arthrogryposis, distal, type 1c
  • da1c
distal arthrogryposis
  • arthrogryposis multiplex congenita
primary cutaneous amyloidosis
  • familial primary localized cutaneous amyloidosis
myopathy, centronuclear, 2
  • cnm2
cardiomyopathy, familial hypertrophic, 1
  • cmh1
- elite association - COSMIC cancer census association via MalaCards
Search MYLPF in MalaCards View complete list of genes associated with diseases

Additional Disease Information for MYLPF

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

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

Publications for MYLPF Gene

  1. Mutations in MYLPF Cause a Novel Segmental Amyoplasia that Manifests as Distal Arthrogryposis. (PMID: 32707087) Chong JX … Bamshad MJ (American journal of human genetics 2020) 3 72
  2. 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
  3. 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
  4. 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
  5. Interactome Mapping Provides a Network of Neurodegenerative Disease Proteins and Uncovers Widespread Protein Aggregation in Affected Brains. (PMID: 32814053) Haenig C … Wanker EE (Cell reports 2020) 3

Products for MYLPF Gene

Sources for MYLPF Gene