About   Help   FAQ
Epg5 Gene Detail
Summary
  • Symbol
    Epg5
  • Name
    ectopic P-granules 5 autophagy tethering factor
  • Synonyms
    5430411K18Rik, mKIAA1632
  • Feature Type
    protein coding gene
  • IDs
    MGI:1918673
    NCBI Gene: 100502841
  • Alliance
    gene page
  • Transcription Start Sites
    5 TSS
Location &
Maps
more
  • Sequence Map
    Chr18:77981680-78078228 bp, + strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 18, 52.38 cM
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    2831 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1918673
 protein coding gene Chr18:77981618-78080539 (+)
129S1/SvImJ MGP_129S1SvImJ_G0024581
 protein coding gene Chr18:78712896-78830252 (+)
A/J MGP_AJ_G0024548
 protein coding gene Chr18:75279316-75377176 (+)
AKR/J MGP_AKRJ_G0024519
 protein coding gene Chr18:77497654-77595842 (+)
BALB/cJ MGP_BALBcJ_G0024547
 protein coding gene Chr18:75470318-75567697 (+)
C3H/HeJ MGP_C3HHeJ_G0024316
 protein coding gene Chr18:77599830-77698002 (+)
C57BL/6NJ MGP_C57BL6NJ_G0024994
 protein coding gene Chr18:80769324-80883997 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0022424
 protein coding gene Chr18:74236918-74328011 (+)
CAST/EiJ MGP_CASTEiJ_G0023788
 protein coding gene Chr18:77921887-78024533 (+)
CBA/J MGP_CBAJ_G0024285
 protein coding gene Chr18:83674736-83784614 (+)
DBA/2J MGP_DBA2J_G0024415
 protein coding gene Chr18:74821648-74918585 (+)
FVB/NJ MGP_FVBNJ_G0024381
 protein coding gene Chr18:74180071-74275379 (+)
LP/J MGP_LPJ_G0024499
 protein coding gene Chr18:78615266-78721664 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0024411
 protein coding gene Chr18:84875659-84997381 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0025042
 protein coding gene Chr18:77669516-77772745 (+)
PWK/PhJ MGP_PWKPhJ_G0023533
 protein coding gene Chr18:75249967-75351396 (+)
SPRET/EiJ MGP_SPRETEiJ_G0023337
 protein coding gene Chr18:77855100-77957335 (+)
WSB/EiJ MGP_WSBEiJ_G0023852
 protein coding gene Chr18:77621852-77726517 (+)



Homology
more
  • Human Ortholog
    EPG5, ectopic P-granules 5 autophagy tethering factor
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    EPG5, ectopic P-granules 5 autophagy tethering factor
  • Synonyms
    HEEW1, KIAA1632, VICIS
  • Links
    NCBI Gene ID: 57724
    neXtProt AC: NX_Q9HCE0
    UniProt: Q9HCE0

  • Chr Location
    18q12.3-q21.1; chr18:45800581-45967329 (-)  GRCh38
Human Diseases
more
  • Diseases
    2 with Epg5 mouse models; 1 with human EPG5 associations

Human Disease Mouse Models
      
IDs
 View 1 model
IDs
 View 1 model
      
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    2 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    68 phenotypes from 3 alleles in 3 genetic backgrounds
    4 images
    14 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.
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
less
  • All GO Annotations
    42
  • GO References
    8
Molecular Function

No experimental evidence to support Molecular Function annotation, following literature review. See J:73796.
Biological Process

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
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
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
    706
  • cDNA Data
    8
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000039840 Ensembl Gene Model | MGI Sequence Detail 96549 C57BL/6J ±  kb
    transcript ENSMUST00000044622 Ensembl | MGI Sequence Detail 9660 Not Applicable  
    polypeptide ENSMUSP00000038681 Ensembl | MGI Sequence Detail 2572 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 8
      cDNA 8

      Microarray probesets 3
    Other
    Accession IDs
    less
    MGI:2147255, MGI:2147364
    References
    more
    • Summaries
      All 39
      Diseases 2
      Gene Ontology 8
      Phenotypes 14
    • 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:345621 Adams DJ, et al., Genetic determinants of micronucleus formation in vivo. Nature. 2024 Mar;627(8002):130-136
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
    Citing These Resources
    Funding Information
    Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
    Send questions and comments to User Support.     		last database update
    11/19/2024
    MGI 6.24     		The Jackson Laboratory