ENSMUSG00000039840


Mus musculus

Features
Gene ID: ENSMUSG00000039840
  
Biological name :Epg5
  
Synonyms : Ectopic P granules / Epg5 / Q80TA9
  
Possible biological names infered from orthology : ectopic P-granules autophagy protein 5 homolog / Q9HCE0
  
Species: Mus musculus
  
Chr. number: 18
Strand: 1
Band: E3
Gene start: 77938467
Gene end: 78035027
  
Corresponding Affymetrix probe sets: 10456922 (MoGene1.0st)   1428419_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000038681
NCBI entrez gene - 100502841     See in Manteia.
MGI - MGI:1918673
RefSeq - XM_017317777
RefSeq - NM_001195633
RefSeq - XM_006526444
RefSeq Peptide - NP_001182562
swissprot - Q80TA9
Ensembl - ENSMUSG00000039840
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 epg5ENSDARG00000059846Danio rerio
 EPG5ENSGALG00000036259Gallus gallus
 EPG5ENSG00000152223Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
No match


Protein motifs (from Interpro)
Interpro ID Name
 IPR029651  Ectopic P granules protein 5


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006914 autophagy IMP
 biological_processGO:0032456 endocytic recycling IMP
 biological_processGO:0097352 autophagosome maturation IMP
 cellular_componentGO:0005737 cytoplasm IBA
 molecular_functionGO:0003674 molecular_function ND


Pathways (from Reactome)
Pathway description
No match


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0000160 kyphosis "forward curvature of the spine, characterized by extensive flexion. " [J:62023, J:66943, Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, cml:Cathleen M. Lutz , Mouse Genome Informatics Curator]
Show

Allelic Composition: Hmx3tm1Ebo/Hmx3tm1Ebo
Genetic Background: involves: 129S4/SvJae

 MP:0000755 hindlimb paralysis "loss of power of voluntary movement in the muscles of the hindlimb through injury or disease of it or its nerve supply" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
Show

Allelic Composition: Hmx3tm1Ebo/Hmx3tm1Ebo
Genetic Background: involves: 129S4/SvJae

 MP:0000807 abnormal hippocampus morphology "absent or malformed deep lying structure of the cerebrum involved with memory storage and spatial navigation" [The Atlas of Mouse Development:ISBN 0-12-402035-6, MGI:Cls, J:38857]
Show

Allelic Composition: Hmx3tm1Ebo/Hmx3tm1Ebo
Genetic Background: involves: 129S4/SvJae

 MP:0000937 abnormal motor neuron morphology "malformation or absence of cells that innervate an effector (muscle or glandular) tissue; responsible for transmission of motor impulses" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, MGI:CLS, J:60159]
Show

Allelic Composition: Hmx3tm1Ebo/Hmx3tm1Ebo
Genetic Background: involves: 129S4/SvJae

 MP:0000939 reduced motor neuron number "fewer than normal numbers of cells that innervate an effector (muscle or glandular) tissue" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, MGI:CLS, J:60159]
Show

Allelic Composition: Hmx3tm1Ebo/Hmx3tm1Ebo
Genetic Background: involves: 129S4/SvJae

 MP:0001262 decreased body weight "lower than normal average weight " [J:61295]
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Allelic Composition: Hmx3tm1Ebo/Hmx3tm1Ebo
Genetic Background: involves: 129S4/SvJae

 MP:0001405 impaired coordination "reduced ability to execute integrated movements of muscle" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator, Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
Show

Allelic Composition: Hmx3tm1Ebo/Hmx3tm1Ebo
Genetic Background: involves: 129S4/SvJae

 MP:0001443 poor grooming "below average standard of cleaning and/or keeping outward appearance tidy (self, mate or offspring)" [MGI:CLS, J:30404]
Show

Allelic Composition: Hmx3tm1Ebo/Hmx3tm1Ebo
Genetic Background: involves: 129S4/SvJae

 MP:0001513 limb grasping "mice clasp front and/or hind feet almost immediately upon being lifted by tail" [cml:Cathleen M. Lutz , Mouse Genome Informatics Curator]
Show

Allelic Composition: Hmx3tm1Ebo/Hmx3tm1Ebo
Genetic Background: involves: 129S4/SvJae

 MP:0001732 postnatal growth retardation "slow or limited development after birth " [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: Hmx3tm1Ebo/Hmx3tm1Ebo
Genetic Background: involves: 129S4/SvJae

 MP:0001783 decreased white fat amount "reduced quantity of fat-storing cells/tissue" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
Show

Allelic Composition: Hmx3tm1Ebo/Hmx3tm1Ebo
Genetic Background: involves: 129S4/SvJae

 MP:0002066 abnormal motor capabilities/coordination/movement "altered ability to coordinate voluntary movement or repetitive, compulsive movements" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Hmx3tm1Ebo/Hmx3tm1Ebo
Genetic Background: involves: 129S4/SvJae

 MP:0002083 premature death "death after 3 weeks of age, but before normal life span" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Hmx3tm1Ebo/Hmx3tm1Ebo
Genetic Background: involves: 129S4/SvJae

 MP:0002184 abnormal innervation "the malformation, misprojection or malfunction of the connection of nerve fibers with a target" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Hmx3tm1Ebo/Hmx3tm1Ebo
Genetic Background: involves: 129S4/SvJae

 MP:0002269 muscular atrophy "a wasting of muscle tissue resulting in a derangement of the muscle fibers; occurs with age, immobilization, weightlessness, malnutrition or denervation" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, cml:Cathleen M. Lutz , Mouse Genome Informatics Curator]
Show

Allelic Composition: Hmx3tm1Ebo/Hmx3tm1Ebo
Genetic Background: involves: 129S4/SvJae

 MP:0004087 abnormal muscle fiber morphology "malformed or poorly developed muscle fibers, the cylindrical multinucleated muscle cells that contract when stimulated" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Hmx3tm1Ebo/Hmx3tm1Ebo
Genetic Background: involves: 129S4/SvJae

 MP:0004091 abnormal Z lines "any structural abnormality in the cross-striation bisecting the I band of striated muscle myofibrils and serving as the anchoring point of actin filaments at either end of the sarcomere" [anna:Anna Anagnostopoulos, Mouse Genome Informatics Curator]
Show

Allelic Composition: Hmx3tm1Ebo/Hmx3tm1Ebo
Genetic Background: involves: 129S4/SvJae

 MP:0008260 abnormal autophagy "abnormal catabolic process involving the degradation of a cell s own components through the lysosomal machinery" [MGI:honda "Hiraoki Onda, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Hmx3tm1Ebo/Hmx3tm1Ebo
Genetic Background: involves: 129S4/SvJae

 MP:0008284 abnormal hippocampus pyramidal cell layer 
Show

Allelic Composition: Hmx3tm1Ebo/Hmx3tm1Ebo
Genetic Background: involves: 129S4/SvJae

 MP:0008918 microgliosis "a proliferation or spread of microglia in the area of a degenerative lesion or damaged tissue" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Hmx3tm1Ebo/Hmx3tm1Ebo
Genetic Background: involves: 129S4/SvJae

 MP:0009122 decreased white fat cell lipid droplet size "reduction in the size of the single large lipid droplet or vacuole of white fat cells" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Hmx3tm1Ebo/Hmx3tm1Ebo
Genetic Background: involves: 129S4/SvJae

 MP:0009133 decreased white fat cell size "reduction in the size of fat cells with light coloration and few mitochondria" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Hmx3tm1Ebo/Hmx3tm1Ebo
Genetic Background: involves: 129S4/SvJae

 MP:0009400 decreased skeletal muscle fiber size "decrease in the size of the large multinucleated cells that make up the skeletal muscles" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Hmx3tm1Ebo/Hmx3tm1Ebo
Genetic Background: involves: 129S4/SvJae

 MP:0009404 centrally nucleated skeletal muscle fibers "cell nuclei are located at a position in the center of the skeletal myofiber, instead of their normal location at the periphery of the fiber; may be indicative of centronuclear myopathy" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Hmx3tm1Ebo/Hmx3tm1Ebo
Genetic Background: involves: 129S4/SvJae

 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: Hmx3tm1Ebo/Hmx3tm1Ebo
Genetic Background: involves: 129S4/SvJae

 MP:0009971 decreased hippocampus pyramidal cell number "decreased number of the projection neurons in the pyramidal layer of the hippocampus" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Hmx3tm1Ebo/Hmx3tm1Ebo
Genetic Background: involves: 129S4/SvJae

 MP:0009974 decreased cerebral cortex pyramidal cell number "reduced number of the projection neurons in the pyramidal cell layer of the cerebral cortex" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition"]
Show

Allelic Composition: Hmx3tm1Ebo/Hmx3tm1Ebo
Genetic Background: involves: 129S4/SvJae

 MP:0010047 axonal spheroids "focal 10-50 micron diameter swellings of axons, which are sometimes, but not always, terminal endbulbs, and are filled with disorganized neurofilaments, tubules, organelles or multi-lamellar inclusions" [PMID:15644421]
Show

Allelic Composition: Hmx3tm1Ebo/Hmx3tm1Ebo
Genetic Background: involves: 129S4/SvJae

 MP:0010179 rough coat "coat does not have the usual smooth appearance" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Hmx3tm1Ebo/Hmx3tm1Ebo
Genetic Background: involves: 129S4/SvJae

 MP:0011630 increased mitochondria size "enlarged the cellular organelles responsible for energy production" [MGI:csmith]
Show

Allelic Composition: Hmx3tm1Ebo/Hmx3tm1Ebo
Genetic Background: involves: 129S4/SvJae

 MP:0011975 neuronal cytoplasmic inclusions "presence of aggregates of protein within the cytoplasm of neurons; hallmark of neurodegenerative disorders" [MGI:mnk]
Show

Allelic Composition: Hmx3tm1Ebo/Hmx3tm1Ebo
Genetic Background: involves: 129S4/SvJae

  


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






 

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