ENSG00000138119


Homo sapiens

Features
Gene ID: ENSG00000138119
  
Biological name :MYOF
  
Synonyms : MYOF / myoferlin / Q9NZM1
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 10
Strand: -1
Band: q23.33
Gene start: 93306429
Gene end: 93482317
  
Corresponding Affymetrix probe sets: 201798_s_at (Human Genome U133 Plus 2.0 Array)   211864_s_at (Human Genome U133 Plus 2.0 Array)   217518_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000352208
Ensembl peptide - ENSP00000360544
Ensembl peptide - ENSP00000432708
Ensembl peptide - ENSP00000351094
Ensembl peptide - ENSP00000360543
NCBI entrez gene - 26509     See in Manteia.
OMIM - 604603
RefSeq - XM_017016070
RefSeq - NM_013451
RefSeq - NM_133337
RefSeq - XM_005269694
RefSeq - XM_011539632
RefSeq - XM_017016068
RefSeq - XM_017016069
RefSeq - XM_005269693
RefSeq Peptide - NP_038479
RefSeq Peptide - NP_579899
swissprot - Q9NZM1
swissprot - H0YD14
Ensembl - ENSG00000138119
  
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
 myofENSDARG00000006112Danio rerio
 myoflENSDARG00000017128Danio rerio
 MYOFENSGALG00000006705Gallus gallus
 MyofENSMUSG00000048612Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
DYSF / O75923 / dysferlinENSG0000013563657
A0AVI2 / FER1L5 / fer-1 like family member 5ENSG0000024971541
OTOF / Q9HC10 / otoferlinENSG0000011515531
FER1L6 / Q2WGJ9 / fer-1 like family member 6ENSG0000021481430


Protein motifs (from Interpro)
Interpro ID Name
 IPR000008  C2 domain
 IPR006614  Peroxin/Ferlin domain
 IPR012560  Ferlin A-domain
 IPR012561  Ferlin B-domain
 IPR012968  FerIin domain
 IPR029999  Myoferlin
 IPR032362  Ferlin, C-terminal domain
 IPR035892  C2 domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0001778 plasma membrane repair ISS
 biological_processGO:0006936 muscle contraction TAS
 biological_processGO:0007520 myoblast fusion IEA
 biological_processGO:0008015 blood circulation TAS
 biological_processGO:0030947 regulation of vascular endothelial growth factor receptor signaling pathway IEA
 biological_processGO:0034605 cellular response to heat IEA
 cellular_componentGO:0005634 nucleus IEA
 cellular_componentGO:0005635 nuclear envelope TAS
 cellular_componentGO:0005886 plasma membrane TAS
 cellular_componentGO:0005901 caveola ISS
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 cellular_componentGO:0030659 cytoplasmic vesicle membrane IEA
 cellular_componentGO:0031410 cytoplasmic vesicle IEA
 cellular_componentGO:0031965 nuclear membrane IEA
 cellular_componentGO:0043231 intracellular membrane-bounded organelle IDA
 cellular_componentGO:0070062 extracellular exosome HDA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0005543 phospholipid binding ISS


Pathways (from Reactome)
Pathway description
No match


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
No match
  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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