ENSMUSG00000048612


Mus musculus

Features
Gene ID: ENSMUSG00000048612
  
Biological name :Myof
  
Synonyms : Myof / Myoferlin / Q69ZN7
  
Possible biological names infered from orthology : Q9NZM1
  
Species: Mus musculus
  
Chr. number: 19
Strand: -1
Band: C2
Gene start: 37899036
Gene end: 38043577
  
Corresponding Affymetrix probe sets: 10467258 (MoGene1.0st)   1427318_s_at (Mouse Genome 430 2.0 Array)   1452455_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000045036
Ensembl peptide - ENSMUSP00000153590
Ensembl peptide - ENSMUSP00000153534
Ensembl peptide - ENSMUSP00000153225
Ensembl peptide - ENSMUSP00000153201
Ensembl peptide - ENSMUSP00000129792
NCBI entrez gene - 226101     See in Manteia.
MGI - MGI:1919192
RefSeq - XM_006526995
RefSeq - NM_001099634
RefSeq - NM_001302140
RefSeq - XM_006526994
RefSeq Peptide - NP_001289069
RefSeq Peptide - NP_001093104
swissprot - E9Q390
swissprot - A0A286YDV5
swissprot - A0A286YDF5
swissprot - A0A286YE65
swissprot - A0A286YCZ3
swissprot - Q69ZN7
Ensembl - ENSMUSG00000048612
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 myofENSDARG00000006112Danio rerio
 myoflENSDARG00000017128Danio rerio
 MYOFENSGALG00000006705Gallus gallus
 MYOFENSG00000138119Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Dysf / Q9ESD7 / Dysferlin / O75923*ENSMUSG0000003378857
Fer1l5 / P0DM40 / Fer-1-like protein 5 / A0AVI2* / fer-1 like family member 5*ENSMUSG0000003743240
Otof / otoferlin isoform 3 / Q9HC10* / otoferlin*ENSMUSG0000006237231
Fer1l6 / fer-1 like family member 6 / Q2WGJ9*ENSMUSG0000003710630
Fer1l4ENSMUSG0000001333829


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 IMP
 biological_processGO:0007520 myoblast fusion IEA
 biological_processGO:0030947 regulation of vascular endothelial growth factor receptor signaling pathway IMP
 biological_processGO:0034605 cellular response to heat IDA
 cellular_componentGO:0005634 nucleus IEA
 cellular_componentGO:0005886 plasma membrane ISO
 cellular_componentGO:0005901 caveola IDA
 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 ISO
 cellular_componentGO:0031965 nuclear membrane IEA
 cellular_componentGO:0043231 intracellular membrane-bounded organelle IEA
 molecular_functionGO:0005543 phospholipid binding IEA


Pathways (from Reactome)
Pathway description
No match


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0000729 abnormal myogenesis "anomaly in embryonic formation of muscle cells or fibers" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: Ltb4r1tm1Bodd/Ltb4r1tm1Bodd
Genetic Background: either: (involves: 129S4/SvJaeSor * BALB/c ) or (involves: 129S4/SvJaeSor * C57BL/6)

 MP:0001265 reduced body size "smaller than average body weight, height and/or length of an organism compared to controls" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, J:23170]
Show

Allelic Composition: Ltb4r1tm1Bodd/Ltb4r1tm1Bodd
Genetic Background: either: (involves: 129S4/SvJaeSor * BALB/c ) or (involves: 129S4/SvJaeSor * C57BL/6)

 MP:0003071 decreased vascular permeability "reduced or slower ability of the blood vessels to permit the passage of substances such as fluid, heat, or gases" [Stedman s Medical Dictionary, 27th edition:ISBN 0-683-40008-8]
Show

Allelic Composition: Ltb4r1tm1Bodd/Ltb4r1tm1Bodd
Genetic Background: either: (involves: 129S4/SvJaeSor * BALB/c ) or (involves: 129S4/SvJaeSor * C57BL/6)

 MP:0003081 abnormal soleus morphology "anomaly in the the superficial flat broad muscle of the calf that is responsible for plantar flexion of the foot" [Stedman s Medical Dictionary, 27th edition:ISBN 0-683-40008-8, smb:Susan M. Bello, Mouse Genome Informatics Curator]
Show

Allelic Composition: Ltb4r1tm1Bodd/Ltb4r1tm1Bodd
Genetic Background: either: (involves: 129S4/SvJaeSor * BALB/c ) or (involves: 129S4/SvJaeSor * C57BL/6)

 MP:0009408 decreased skeletal muscle fiber density "decrease in the number of skeletal muscle fibers in a given cross-sectional area of a skeletal muscle" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Ltb4r1tm1Bodd/Ltb4r1tm1Bodd
Genetic Background: either: (involves: 129S4/SvJaeSor * BALB/c ) or (involves: 129S4/SvJaeSor * C57BL/6)

 MP:0009412 skeletal muscle fiber degeneration "pathological deterioration of skeletal muscle fiber tissue, often accompanied by loss of function" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Ltb4r1tm1Bodd/Ltb4r1tm1Bodd
Genetic Background: either: (involves: 129S4/SvJaeSor * BALB/c ) or (involves: 129S4/SvJaeSor * C57BL/6)

  


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






 

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