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Epg5 Gene Detail
Summary
  • Symbol
    Epg5
  • Name
    ectopic P-granules autophagy protein 5 homolog (C. elegans)
  • Synonyms
    5430411K18Rik, mKIAA1632
  • Feature Type
    protein coding gene
  • IDs
    MGI:1918673
    NCBI Gene: 100502841
Location & Maps
more
  • Sequence Map
    Chr18:77938467-78035027 bp, + strand
  • From Ensembl annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      96561 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 18, 52.38 cM
  • Mapping Data
    2 experiments
Homology
more
  • Human Ortholog
    EPG5, ectopic P-granules autophagy protein 5 homolog
  • Vertebrate Orthologs
    10
  • Human Ortholog
    EPG5, ectopic P-granules autophagy protein 5 homolog
    Orthology source: HGNC, HomoloGene
  • Synonyms
    HEEW1, KIAA1632, VICIS
  • Links
    NCBI Gene ID: 57724
    neXtProt AC: NX_Q9HCE0

  • Chr Location
    18q12.3; chr18:45800580-45967339 (-)  GRCh38.p2

  • HomoloGene
    Vertebrate Homology Class 14575
    1 human;1 mouse;1 rat;1 chimpanzee;1 rhesus macaque;1 cattle;1 dog;1 chicken;1 western clawed frog;1 zebrafish
  • HCOP
    human homology predictions: EPG5
  • Gene Tree
Human Diseases
more
  • Diseases
    1 with human EPG5 associations

Human Disease Mouse Models
       Vici Syndrome; VICIS   OMIM: 242840
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    32 phenotypes from 1 allele in 1 genetic background
    4 images
    4 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    8
  • Gene trapped
    6
  • Targeted
    1
  • Transposon induced
    1
  • Genomic Mutations
    1 involving Epg5
  • Incidental Mutations
    APF , CvDC
Mice homozygous for a knock-out allele exhibit dysfunctional autophagy that leads to aggregate inclusions in motor neurons, motor neuron degeneration, denervation, muscle degeneration and premature death.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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  • cDNA Data
Interactions
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic ENSMUSG00000039840 Ensembl Gene Model | MGI Sequence Detail 96561 C57BL/6J ±  kb
transcript ENSMUST00000044622 Ensembl | MGI Sequence Detail 9672 Not Applicable  
polypeptide ENSMUSP00000038681 Ensembl | MGI Sequence Detail 2572 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    651 from dbSNP Build 142
Protein
Information
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  • UniProt
    2 Sequences
  • Protein Ontology
    PR:000030414 ectopic P granules protein 5 homolog
  • InterPro Domains
    IPR029651 Ectopic P granules protein 5 homologue
Molecular
Reagents
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  • All nucleic 7
    cDNA 7

    Microarray probesets 3
Other
Accession IDs
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MGI:2147255, MGI:2147364
References
more
  • Summaries
    All 24
    Gene Ontology 2
    Phenotypes 4
  • Earliest
    J:65060 Kawai J, et al., Functional annotation of a full-length mouse cDNA collection. Nature. 2001 Feb 8;409(6821):685-90
  • Latest
    J:196603 Zhao H, et al., Mice deficient in Epg5 exhibit selective neuronal vulnerability to degeneration. J Cell Biol. 2013 Mar 18;200(6):731-41

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
08/17/2016
MGI 6.05
The Jackson Laboratory