ENSG00000172399


Homo sapiens

Features
Gene ID: ENSG00000172399
  
Biological name :MYOZ2
  
Synonyms : MYOZ2 / myozenin 2 / Q9NPC6
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 4
Strand: 1
Band: q26
Gene start: 119135784
Gene end: 119187789
  
Corresponding Affymetrix probe sets: 207148_x_at (Human Genome U133 Plus 2.0 Array)   211476_at (Human Genome U133 Plus 2.0 Array)   213782_s_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000306997
NCBI entrez gene - 51778     See in Manteia.
OMIM - 605602
RefSeq - NM_016599
RefSeq - XM_006714234
RefSeq Peptide - NP_057683
swissprot - Q9NPC6
Ensembl - ENSG00000172399
  
Related genetic diseases (OMIM): 613838 - Cardiomyopathy, hypertrophic, 16, 613838
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
 FO818704.1ENSDARG00000099032Danio rerio
 myoz2aENSDARG00000012311Danio rerio
 myoz2bENSDARG00000037266Danio rerio
 MYOZ2ENSGALG00000011991Gallus gallus
 Myoz2ENSMUSG00000028116Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
MYOZ1 / Q9NP98 / myozenin 1ENSG0000017779134
MYOZ3 / Q8TDC0 / myozenin 3ENSG0000016459133


Protein motifs (from Interpro)
Interpro ID Name
 IPR008438  Myozenin


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0008150 biological_process ND
 biological_processGO:0030239 myofibril assembly IBA
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0015629 actin cytoskeleton IEA
 cellular_componentGO:0030017 sarcomere TAS
 cellular_componentGO:0030018 Z disc NAS
 molecular_functionGO:0003779 actin binding IEA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0030346 protein phosphatase 2B binding NAS
 molecular_functionGO:0031433 telethonin binding IPI
 molecular_functionGO:0051373 FATZ binding IBA


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:0001670 Asymmetric septal hypertrophy 
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 HP:0001712 Left ventricular hypertrophy 
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 HP:0004756 Ventricular tachycardia 
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 HP:0005110 Atrial fibrillation 
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 HP:0011713 Left bundle branch block "A conduction block of the left branch of the bundle of His. This manifests as a generalized disturbance of QRS morphology on EKG." [DDD:dbrown, HPO:probinson]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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