ENSG00000101306


Homo sapiens

Features
Gene ID: ENSG00000101306
  
Biological name :MYLK2
  
Synonyms : MYLK2 / myosin light chain kinase 2 / Q9H1R3
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 20
Strand: 1
Band: q11.21
Gene start: 31819308
Gene end: 31834689
  
Corresponding Affymetrix probe sets: 231792_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000365162
Ensembl peptide - ENSP00000365152
NCBI entrez gene - 85366     See in Manteia.
OMIM - 606566
RefSeq - NM_033118
RefSeq Peptide - NP_149109
swissprot - Q9H1R3
Ensembl - ENSG00000101306
  
Related genetic diseases (OMIM): 192600 - Cardiomyopathy, hypertrophic, 1, digenic, 192600
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
 mylk2ENSDARG00000031698Danio rerio
 MYLK2ENSGALG00000006273Gallus gallus
 Mylk2ENSMUSG00000027470Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
MYLK3 / Q32MK0 / myosin light chain kinase 3ENSG0000014079544
MYLK / Q15746 / myosin light chain kinaseENSG0000006553438
MYLK4 / Q86YV6 / myosin light chain kinase family member 4ENSG0000014594932
SPEG / Q15772 / SPEG complex locusENSG0000007219525
Q9UEE5 / STK17A / serine/threonine kinase 17aENSG0000016454321
DAPK1 / P53355 / death associated protein kinase 1ENSG0000019673021
DAPK3 / O43293 / death associated protein kinase 3ENSG0000016765720
DAPK2 / Q9UIK4 / death associated protein kinase 2ENSG0000003566419
O94768 / STK17B / serine/threonine kinase 17bENSG0000008132019


Protein motifs (from Interpro)
Interpro ID Name
 IPR000719  Protein kinase domain
 IPR008271  Serine/threonine-protein kinase, active site
 IPR011009  Protein kinase-like domain superfamily
 IPR017441  Protein kinase, ATP binding site


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006468 protein phosphorylation IEA
 biological_processGO:0006941 striated muscle contraction IDA
 biological_processGO:0007274 neuromuscular synaptic transmission IEA
 biological_processGO:0010628 positive regulation of gene expression IDA
 biological_processGO:0014816 skeletal muscle satellite cell differentiation IEA
 biological_processGO:0016310 phosphorylation IEA
 biological_processGO:0018105 peptidyl-serine phosphorylation IBA
 biological_processGO:0018107 peptidyl-threonine phosphorylation IDA
 biological_processGO:0032971 regulation of muscle filament sliding IDA
 biological_processGO:0035556 intracellular signal transduction IBA
 biological_processGO:0035914 skeletal muscle cell differentiation IDA
 biological_processGO:0046777 protein autophosphorylation IDA
 biological_processGO:0055008 cardiac muscle tissue morphogenesis IMP
 biological_processGO:0060048 cardiac muscle contraction IC
 cellular_componentGO:0005634 nucleus IDA
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0030017 sarcomere IC
 molecular_functionGO:0000166 nucleotide binding IEA
 molecular_functionGO:0004672 protein kinase activity IEA
 molecular_functionGO:0004674 protein serine/threonine kinase activity IEA
 molecular_functionGO:0004683 calmodulin-dependent protein kinase activity ISS
 molecular_functionGO:0004687 myosin light chain kinase activity ISS
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0005516 calmodulin binding ISS
 molecular_functionGO:0005524 ATP binding IEA
 molecular_functionGO:0016301 kinase activity IEA
 molecular_functionGO:0016740 transferase activity IEA


Pathways (from Reactome)
Pathway description
No match


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:0001635 Congestive heart failure "The presence of an abnormality of cardiac function that is responsible for the failure of the heart to pump blood at a rate that is commensurate with the needs of the tissues or a state in which abnormally elevated filling pressures are required for the heart to do so. Heart failure is frequently related to a defect in myocardial contraction." [HPO:curators]
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 HP:0001670 Asymmetric septal hypertrophy 
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 HP:0001682 Subaortic stenosis "A fixed form of obstruction to blood flow across the left-ventricular outflow tract related to stenosis (narrowing) below the level of the aortic valve." [HPO:curators]
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 HP:0001699 Sudden death 
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 HP:0001939 Metabolism abnormality 
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 HP:0011675 Arrhythmia "Any cardiac rhythm other than the normal sinus rhythm. Such a rhythm may be either of sinus or ectopic origin and either regular or irregular. An arrhythmia may be due to a disturbance in impulse formation or conduction or both." [DDD:dbrown, pmid:19063792]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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