This gene encodes a large coiled coil domain-containing protein that functions in autophagy during starvation conditions. Mutations in this gene cause Vici syndrome. [provided by RefSeq, Aug 2015] See more...

Aliases for EPG5 Gene

Aliases for EPG5 Gene

  • Ectopic P-Granules Autophagy Protein 5 Homolog 2 3 5
  • KIAA1632 2 3 4
  • Ectopic P Granules Protein 5 Homolog 3 4
  • Ectopic P-Granules Autophagy Protein 5 Homolog (C. Elegans) 2
  • HEEW1 3
  • VICIS 3
  • HEPG5 2
  • EPG5 5

External Ids for EPG5 Gene

Previous HGNC Symbols for EPG5 Gene

  • KIAA1632

Previous GeneCards Identifiers for EPG5 Gene

  • GC18M043428

Summaries for EPG5 Gene

Entrez Gene Summary for EPG5 Gene

  • This gene encodes a large coiled coil domain-containing protein that functions in autophagy during starvation conditions. Mutations in this gene cause Vici syndrome. [provided by RefSeq, Aug 2015]

GeneCards Summary for EPG5 Gene

EPG5 (Ectopic P-Granules Autophagy Protein 5 Homolog) is a Protein Coding gene. Diseases associated with EPG5 include Vici Syndrome and Syndromic Rod-Cone Dystrophy. An important paralog of this gene is LIX1L.

UniProtKB/Swiss-Prot Summary for EPG5 Gene

  • Involved in autophagy. May play a role in a late step of autophagy, such as clearance of autophagosomal cargo. Plays a key role in innate and adaptive immune response triggered by unmethylated cytidine-phosphate-guanosine (CpG) dinucleotides from pathogens, and mediated by the nucleotide-sensing receptor TLR9. It is necessary for the translocation of CpG dinucleotides from early endosomes to late endosomes and lysosomes, where TLR9 is located (PubMed:29130391).

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for EPG5 Gene

Genomics for EPG5 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for EPG5 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH18J045966 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 277.5 +0.5 538 3.2 BCLAF1 SP1 ZNF207 ZNF600 ZNF580 POLR2A YY1 CTCF REST KLF11 EPG5 lnc-SIGLEC15-2 HAUS1 lnc-PSTPIP2-3 SIGLEC15
GH18J046172 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 44.7 -207.2 -207162 3.8 BCLAF1 SP1 ZNF207 ZNF654 IKZF1 MYC ZNF580 POLR2A ZNF10 NFIC C18orf25 HAUS1 EPG5 lnc-ATP5F1A-2 RNF165
GH18J045960 Enhancer 1 FANTOM5 ENCODE dbSUPER 22.4 +4.6 4628 3.8 SAP130 BHLHE40 SPI1 ELF1 JUND NR2F1 TEAD4 PKNOX1 IKZF1 IKZF2 EPG5 PSTPIP2 RNY4P37 C18orf25 lnc-PSTPIP2-3 SIGLEC15
GH18J046013 Enhancer 1.1 FANTOM5 ENCODE dbSUPER 21.6 -46.3 -46285 0.3 BCL11A IRF4 CBFB BATF IKZF1 BMI1 NFATC1 TCF7 MTA3 ATF2 PSTPIP2 EPG5 RNY4P37 HSALNG0121293 lnc-EPG5-4
GH18J046051 Enhancer 1.4 FANTOM5 Ensembl ENCODE dbSUPER 14.7 -85.4 -85362 10.2 IKZF1 CEBPA ATF3 YY1 MXD4 THAP11 FOXA2 SMAD4 RXRA SAP130 EPG5 PSTPIP2 RNY4P37 ATP5F1A piR-61945-235 piR-50437-307
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around EPG5 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for EPG5

Genomic Locations for EPG5 Gene

Latest Assembly
chr18:45,800,586-45,967,339
(GRCh38/hg38)
Size:
166,754 bases
Orientation:
Minus strand

Previous Assembly
chr18:43,427,574-43,547,295
(GRCh37/hg19 by Entrez Gene)
Size:
119,722 bases
Orientation:
Minus strand

chr18:43,427,574-43,547,240
(GRCh37/hg19 by Ensembl)
Size:
119,667 bases
Orientation:
Minus strand

Genomic View for EPG5 Gene

Genes around EPG5 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
EPG5 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for EPG5 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for EPG5 Gene

Proteins for EPG5 Gene

  • Protein details for EPG5 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9HCE0-EPG5_HUMAN
    Recommended name:
    Ectopic P granules protein 5 homolog
    Protein Accession:
    Q9HCE0
    Secondary Accessions:
    • A2BDF3
    • Q9H8C8

    Protein attributes for EPG5 Gene

    Size:
    2579 amino acids
    Molecular mass:
    292481 Da
    Quaternary structure:
    • Interacts with RAN.
    SequenceCaution:
    • Sequence=BAB13458.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305}; Sequence=BAB14689.1; Type=Erroneous termination; Note=Truncated C-terminus.; Evidence={ECO:0000305};

    Alternative splice isoforms for EPG5 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for EPG5 Gene

Post-translational modifications for EPG5 Gene

  • Glycosylation at Asn137
  • Ubiquitination at Lys1368
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect

No data available for DME Specific Peptides for EPG5 Gene

Domains & Families for EPG5 Gene

Gene Families for EPG5 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

Protein Domains for EPG5 Gene

InterPro:

Suggested Antigen Peptide Sequences for EPG5 Gene

GenScript: Design optimal peptide antigens:
  • Ectopic P granules protein 5 homolog (EPG5_HUMAN)
  • KIAA1632 protein (Q8N401_HUMAN)
  • KIAA1632 protein (Q9BTI0_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9HCE0

UniProtKB/Swiss-Prot:

EPG5_HUMAN :
  • Belongs to the EPG5 family.
Family:
  • Belongs to the EPG5 family.
genes like me logo Genes that share domains with EPG5: view

Function for EPG5 Gene

Molecular function for EPG5 Gene

UniProtKB/Swiss-Prot Function:
Involved in autophagy. May play a role in a late step of autophagy, such as clearance of autophagosomal cargo. Plays a key role in innate and adaptive immune response triggered by unmethylated cytidine-phosphate-guanosine (CpG) dinucleotides from pathogens, and mediated by the nucleotide-sensing receptor TLR9. It is necessary for the translocation of CpG dinucleotides from early endosomes to late endosomes and lysosomes, where TLR9 is located (PubMed:29130391).

Phenotypes From GWAS Catalog for EPG5 Gene

Gene Ontology (GO) - Molecular Function for EPG5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 29130391
genes like me logo Genes that share ontologies with EPG5: view
genes like me logo Genes that share phenotypes with EPG5: view

Human Phenotype Ontology for EPG5 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for EPG5 Gene

MGI Knock Outs for EPG5:

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for EPG5

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for EPG5 Gene

Localization for EPG5 Gene

Subcellular locations from UniProtKB/Swiss-Prot for EPG5 Gene

Cytoplasm, perinuclear region. Lysosome.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for EPG5 gene
Compartment Confidence
lysosome 5
plasma membrane 3
nucleus 3
endosome 2
extracellular 1
cytoskeleton 1
mitochondrion 1
peroxisome 1
endoplasmic reticulum 1
cytosol 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nuclear speckles (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for EPG5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IBA 21873635
GO:0005764 lysosome IEA,IDA 29130391
GO:0048471 perinuclear region of cytoplasm IEA,IDA 29130391
genes like me logo Genes that share ontologies with EPG5: view

Pathways & Interactions for EPG5 Gene

PathCards logo

SuperPathways for EPG5 Gene

No Data Available

Interacting Proteins for EPG5 Gene

Gene Ontology (GO) - Biological Process for EPG5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006862 nucleotide transport IMP 29130391
GO:0006914 autophagy IEA --
GO:0008333 endosome to lysosome transport IMP 29130391
GO:0032456 endocytic recycling IEA --
GO:0034162 toll-like receptor 9 signaling pathway IMP 29130391
genes like me logo Genes that share ontologies with EPG5: view

No data available for Pathways by source and SIGNOR curated interactions for EPG5 Gene

Drugs & Compounds for EPG5 Gene

No Compound Related Data Available

Transcripts for EPG5 Gene

mRNA/cDNA for EPG5 Gene

1 REFSEQ mRNAs :
13 NCBI additional mRNA sequence :
10 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for EPG5

Alternative Splicing Database (ASD) splice patterns (SP) for EPG5 Gene

No ASD Table

Relevant External Links for EPG5 Gene

GeneLoc Exon Structure for
EPG5

Expression for EPG5 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for EPG5 Gene

Protein differential expression in normal tissues from HIPED for EPG5 Gene

This gene is overexpressed in Bone (37.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for EPG5 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for EPG5

SOURCE GeneReport for Unigene cluster for EPG5 Gene:

Hs.514843

Evidence on tissue expression from TISSUES for EPG5 Gene

  • Nervous system(4.4)

Phenotype-based relationships between genes and organs from Gene ORGANizer for EPG5 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • lymphatic
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • cerebellum
  • chin
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • head
  • jaw
  • lip
  • mandible
  • maxilla
  • mouth
  • outer ear
  • skull
Thorax:
  • heart
  • heart valve
  • lung
  • thymus
Abdomen:
  • kidney
Pelvis:
  • penis
  • urethra
Limb:
  • digit
  • finger
  • foot
  • hand
  • lower limb
  • nail
  • toe
  • upper limb
General:
  • blood
  • blood vessel
  • bone marrow
  • hair
  • peripheral nervous system
  • skin
  • spinal cord
  • white blood cell
genes like me logo Genes that share expression patterns with EPG5: view

Primer products for research

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein tissue co-expression partners and mRNA Expression by UniProt/SwissProt for EPG5 Gene

Orthologs for EPG5 Gene

This gene was present in the common ancestor of animals.

Orthologs for EPG5 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia EPG5 29 30
  • 99.48 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia EPG5 29 30
  • 90.33 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia EPG5 29 30
  • 89.57 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 30
  • 85 (a)
OneToMany
-- 30
  • 82 (a)
OneToMany
-- 30
  • 79 (a)
OneToMany
-- 30
  • 71 (a)
OneToMany
Rat
(Rattus norvegicus)
Mammalia Epg5 29
  • 84.05 (n)
Mouse
(Mus musculus)
Mammalia Epg5 29 16 30
  • 83.93 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia EPG5 30
  • 81 (a)
OneToOne
Chicken
(Gallus gallus)
Aves EPG5 29 30
  • 71.25 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia EPG5 30
  • 71 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia epg5 29
  • 65.32 (n)
Str.6571 29
Zebrafish
(Danio rerio)
Actinopterygii si:dkey-165i4.3 29
  • 62.3 (n)
EPG5 30
  • 57 (a)
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta CG14299 29 30
  • 41.63 (n)
OneToOne
Worm
(Caenorhabditis elegans)
Secernentea epg-5 29 30
  • 39.27 (n)
OneToOne
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 30
  • 28 (a)
OneToOne
Species where no ortholog for EPG5 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for EPG5 Gene

ENSEMBL:
Gene Tree for EPG5 (if available)
TreeFam:
Gene Tree for EPG5 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for EPG5: view image
Alliance of Genome Resources:
Additional Orthologs for EPG5

Paralogs for EPG5 Gene

Paralogs for EPG5 Gene

(2) SIMAP similar genes for EPG5 Gene using alignment to 5 proteins:

  • EPG5_HUMAN
  • K7EM87_HUMAN
  • K7ENK5_HUMAN
  • K7ENS1_HUMAN
  • K7EPN4_HUMAN
genes like me logo Genes that share paralogs with EPG5: view

Variants for EPG5 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for EPG5 Gene

SNP ID Clinical significance and condition Chr 18 pos Variation AA Info Type
1000273 Uncertain Significance: Vici syndrome 45,952,609(-) T/C
NM_020964.3(EPG5):c.1043A>G (p.Tyr348Cys)
MISSENSE
1000938 Uncertain Significance: Vici syndrome 45,901,144(-) A/T
NM_020964.3(EPG5):c.4498T>A (p.Leu1500Met)
MISSENSE
1003033 Uncertain Significance: Vici syndrome 45,884,798(-) C/T
NM_020964.3(EPG5):c.5123G>A (p.Gly1708Asp)
MISSENSE
1003098 Uncertain Significance: Vici syndrome 45,922,558(-) C/T
NM_020964.3(EPG5):c.2881G>A (p.Glu961Lys)
MISSENSE
1003694 Uncertain Significance: Vici syndrome 45,954,965(-) G/A
NM_020964.3(EPG5):c.437C>T (p.Ser146Leu)
MISSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for EPG5 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for EPG5 Gene

Variant ID Type Subtype PubMed ID
esv3893100 CNV gain 25118596
nsv2277 CNV deletion 18451855
nsv525268 CNV gain 19592680

Variation tolerance for EPG5 Gene

Residual Variation Intolerance Score: 85.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 16.51; 97.77% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for EPG5 Gene

Human Gene Mutation Database (HGMD)
EPG5
SNPedia medical, phenotypic, and genealogical associations of SNPs for
EPG5
Leiden Open Variation Database (LOVD)
EPG5

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for EPG5 Gene

Disorders for EPG5 Gene

MalaCards: The human disease database

(19) MalaCards diseases for EPG5 Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

- elite association - COSMIC cancer census association via MalaCards
Search EPG5 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

EPG5_HUMAN
  • Vici syndrome (VICIS) [MIM:242840]: A rare congenital multisystem disorder characterized by agenesis of the corpus callosum, cataracts, pigmentary defects, progressive cardiomyopathy, and variable immunodeficiency. Affected individuals also have profound psychomotor retardation and hypotonia due to a myopathy. {ECO:0000269 PubMed:23222957, ECO:0000269 PubMed:25331754, ECO:0000269 PubMed:26917586, ECO:0000269 PubMed:27343256, ECO:0000269 PubMed:28168853, ECO:0000269 PubMed:29130391}. Note=The disease is caused by variants affecting the gene represented in this entry. Affected individuals show homozygosity or compound heterozygosity for truncating mutations, aberrant splicing and/or missense mutations. Parental studies suggest recessive inheritance with no carrier manifestation (PubMed:23222957). {ECO:0000269 PubMed:23222957}.

Additional Disease Information for EPG5

genes like me logo Genes that share disorders with EPG5: view

No data available for Genatlas for EPG5 Gene

Publications for EPG5 Gene

  1. Recessive mutations in EPG5 cause Vici syndrome, a multisystem disorder with defective autophagy. (PMID: 23222957) Cullup T … Jungbluth H (Nature genetics 2013) 2 3 4 72
  2. C. elegans screen identifies autophagy genes specific to multicellular organisms. (PMID: 20550938) Tian Y … Zhang H (Cell 2010) 2 3 4
  3. The Vici syndrome protein EPG5 regulates intracellular nucleic acid trafficking linking autophagy to innate and adaptive immunity. (PMID: 29130391) Piano Mortari E … Carsetti R (Autophagy 2018) 3 4
  4. Prenatal and postnatal presentations of corpus callosum agenesis with polymicrogyria caused by EGP5 mutation. (PMID: 28168853) Maillard C … Bahi-Buisson N (American journal of medical genetics. Part A 2017) 3 4
  5. Aberrant splicing induced by the most common EPG5 mutation in an individual with Vici syndrome. (PMID: 27343256) Kane MS … Solomon BD (Brain : a journal of neurology 2016) 3 4

Products for EPG5 Gene

Sources for EPG5 Gene