ENSG00000198336


Homo sapiens

Features
Gene ID: ENSG00000198336
  
Biological name :MYL4
  
Synonyms : MYL4 / myosin light chain 4 / P12829
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 17
Strand: 1
Band: q21.32
Gene start: 47200446
Gene end: 47223679
  
Corresponding Affymetrix probe sets: 210088_x_at (Human Genome U133 Plus 2.0 Array)   210395_x_at (Human Genome U133 Plus 2.0 Array)   216054_x_at (Human Genome U133 Plus 2.0 Array)   217274_x_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000461570
Ensembl peptide - ENSP00000461121
Ensembl peptide - ENSP00000461747
Ensembl peptide - ENSP00000347055
Ensembl peptide - ENSP00000377096
Ensembl peptide - ENSP00000442375
Ensembl peptide - ENSP00000458194
Ensembl peptide - ENSP00000458907
Ensembl peptide - ENSP00000459035
Ensembl peptide - ENSP00000460734
NCBI entrez gene - 4635     See in Manteia.
OMIM - 160770
RefSeq - XM_017024684
RefSeq - NM_001002841
RefSeq - NM_002476
RefSeq - XM_005257391
RefSeq - XM_011524839
RefSeq - XM_017024683
RefSeq Peptide - NP_002467
RefSeq Peptide - NP_001002841
swissprot - I3L1K6
swissprot - I3L1R3
swissprot - I3L3U1
swissprot - I3L4B1
swissprot - P12829
swissprot - I3L532
swissprot - A0A1C7CYY4
Ensembl - ENSG00000198336
  
Related genetic diseases (OMIM): 617280 - ?Atrial fibrillation, familial, 18, 617280
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 cmlc1ENSDARG00000032976Danio rerio
 myl4ENSDARG00000011519Danio rerio
 MYL4ENSGALG00000000585Gallus gallus
 Myl4ENSMUSG00000061086Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
MYL3 / P08590 / myosin light chain 3ENSG0000016080880
MYL1 / P05976 / myosin light chain 1ENSG0000016853071
MYL6B / P14649 / myosin light chain 6BENSG0000019646565
MYL6 / P60660 / myosin light chain 6ENSG0000009284159


Protein motifs (from Interpro)
Interpro ID Name
 IPR002048  EF-hand domain
 IPR011992  EF-hand domain pair


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0002026 regulation of the force of heart contraction IMP
 biological_processGO:0030049 muscle filament sliding TAS
 biological_processGO:0032781 positive regulation of ATPase activity IMP
 biological_processGO:0060048 cardiac muscle contraction IMP
 cellular_componentGO:0005829 cytosol TAS
 cellular_componentGO:0016459 myosin complex IEA
 cellular_componentGO:0031672 A band IMP
 molecular_functionGO:0003785 actin monomer binding IDA
 molecular_functionGO:0005509 calcium ion binding IEA
 molecular_functionGO:0032038 myosin II heavy chain binding NAS
 molecular_functionGO:0051015 actin filament binding IMP


Pathways (from Reactome)
Pathway description
Striated Muscle Contraction


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000006 Autosomal dominant inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele." [HPO:curators]
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 HP:0001662 Bradycardia 
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 HP:0001962 Palpitations 
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 HP:0004754 paroxysmal or chronic atrial fibrillation 
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 HP:0004757 paroxysmal atrial fibrillation 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000111245 MYL2 / P10916 / myosin light chain 2  / complex
 ENSG00000134571 MYBPC3 / Q14896 / myosin binding protein C, cardiac  / complex
 ENSG00000160808 MYL3 / P08590 / myosin light chain 3  / complex
 ENSG00000155657 TTN / titin / Q8WZ42  / complex
 ENSG00000168530 MYL1 / P05976 / myosin light chain 1  / complex
 ENSG00000086967 MYBPC2 / Q14324 / myosin binding protein C, fast type  / complex
 ENSG00000198336 MYL4 / P12829 / myosin light chain 4  / complex
 ENSG00000196091 MYBPC1 / Q00872 / myosin binding protein C, slow type  / complex
 ENSG00000197616 MYH6 / P13533 / myosin heavy chain 6  / complex / reaction
 ENSG00000133020 MYH8 / P13535 / myosin heavy chain 8  / complex / reaction
 ENSG00000109063 MYH3 / P11055 / myosin heavy chain 3  / complex / reaction






 

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