Epg5 MGI Mouse Gene Detail - MGI:1918673 - ectopic P-granules 5 autophagy tethering factor

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

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

SNPs within 2kb

2831 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
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 (+)

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

HGNC:29331

NCBI Gene ID: 57724

neXtProt AC: NX_Q9HCE0

UniProt: Q9HCE0
Chr Location

18q12.3-q21.1; chr18:45800581-45967329 (-) GRCh38

MGI Vertebrate Homology

Epg5 stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: EPG5
Gene Tree

Epg5

Diseases

2 with Epg5 mouse models; 1 with human EPG5 associations

Human Disease

Mouse Models

amyotrophic lateral sclerosis

IDs

View 1 model

retinitis pigmentosa

IDs

View 1 model

Vici syndrome

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

less

Phenotype Summary

68 phenotypes from 3 alleles in 3 genetic backgrounds
4 images
14 phenotype references

Phenotype Overview

Blue squares indicate phenotypes directly attributed to mutations/alleles of this gene.

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

12
Chemically induced (ENU)

1
Endonuclease-mediated

3
Gene trapped

6
Targeted

1
Transposon induced

1
Genomic Mutations

1 involving Epg5
Incidental Mutations

APF , CvDC
Find Mice (IMSR)

106 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

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.

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.

less

Expression Overview

GXD's primary emphasis is on endogenous gene expression during development. Click on grid cells to view annotations.

Blue cells = expressed in wild-type.
Gray triangles = other expression annotations only
(e.g. absence of expression or data from mutants).

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

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

GEO

Expression Atlas
Other Vertebrate Links

Xenbase epg5

ZFIN epg5

less

All Sequences

41
RefSeq

8
UniProt

2
CCDS

CCDS57126.1

Ensembl

ENSMUSG00000039840 (Evidence)
NCBI Gene

100502841

			Length	Strain/Species	Flank
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

less

UniProt

2 Sequences
Protein Ontology

PR:000030414 ectopic P granules protein 5 homolog

(term hierarchy)
InterPro Domains

IPR051436 Autophagy-related EPG5

less

All nucleic 8

cDNA 8

Microarray probesets 3

less

MGI:2147255, MGI:2147364

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

TSS for Epg5:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr152076	Chr18:77981636-77981666 (+)	-29 bp
Tssr152077	Chr18:77981667-77981692 (+)	0 bp
Tssr5383	Chr18:77992054-77992079 (+)	10,387 bp
Tssr152078	Chr18:78073243-78073262 (+)	91,573 bp
Tssr152079	Chr18:78073281-78073293 (+)	91,607 bp

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 11/12/2024 MGI 6.24