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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 Autophagy Protein 5 Homolog (C. Elegans) 2
  • Ectopic P Granules Protein 5 Homolog 3
  • HEEW1 3
  • VICIS 3

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 Spastic Paraplegia 49, Autosomal Recessive.

UniProtKB/Swiss-Prot for EPG5 Gene

  • Involved in autophagy. May play a role in a late step of autophagy, such as clearance of autophagosomal cargo.

Additional gene information for EPG5 Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for EPG5 Gene

Genomics for EPG5 Gene

GeneHancer (GH) Regulatory Elements for EPG5 Gene

Promoters and enhancers for EPG5 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH18I045966 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 577.6 +0.3 333 2 HDGF PKNOX1 ARID4B SIN3A DMAP1 YY1 ZNF207 ZNF143 KLF13 DEK EPG5 HAUS1 GC18M045898
GH18I046172 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 46.9 -206.9 -206919 2.7 HDGF PKNOX1 ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 POLR2B ZNF766 C18orf25 GC18M046141 HAUS1 EPG5 ENSG00000267724 GC18P046277
GH18I045960 Enhancer 1.3 FANTOM5 Ensembl ENCODE dbSUPER 22.6 +4.6 4628 3.8 PKNOX1 SAP130 NR2F1 TEAD4 ELF1 MITF JUND IKZF1 HMBOX1 RUNX3 EPG5 PSTPIP2 RNY4P37 C18orf25 GC18M045898
GH18I046013 Enhancer 1.1 FANTOM5 ENCODE dbSUPER 21.6 -46.3 -46285 0.3 CBFB ZBED1 JUNB BMI1 BATF ATF2 IRF4 BCL11A IKZF1 NFATC1 PSTPIP2 EPG5 RNY4P37 LOC100422497 RN7SKP26
GH18I046051 Enhancer 1.5 FANTOM5 Ensembl ENCODE dbSUPER 14.4 -85.0 -85017 1.7 FOXA2 ARID4B RAD21 RARA ETS1 YY1 CREM THAP11 RXRA SP5 EPG5 RNY4P37 PSTPIP2 LOC100422497
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around EPG5 on UCSC Golden Path with GeneCards custom track

Genomic Locations for EPG5 Gene

Genomic Locations for EPG5 Gene
166,760 bases
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:
    Recommended name:
    Ectopic P granules protein 5 homolog
    Protein Accession:
    Secondary Accessions:
    • A2BDF3
    • Q9H8C8

    Protein attributes for EPG5 Gene

    2579 amino acids
    Molecular mass:
    292481 Da
    Quaternary structure:
    No Data Available
    • Sequence=BAB13458.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=BAB14689.1; Type=Erroneous termination; Positions=1159; Note=Translated as Trp.; Evidence={ECO:0000305};

    Alternative splice isoforms for EPG5 Gene


neXtProt entry for EPG5 Gene

Post-translational modifications for EPG5 Gene

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


Suggested Antigen Peptide Sequences for EPG5 Gene

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the EPG5 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.

Phenotypes From GWAS Catalog for EPG5 Gene

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 Model Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Animal Models , Transcription Factor Targets and HOMER Transcription for EPG5 Gene

Localization for EPG5 Gene

Subcellular locations from

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
nucleus 4
plasma membrane 3
lysosome 2
endoplasmic reticulum 1
endosome 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 --
genes like me logo Genes that share ontologies with EPG5: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for EPG5 Gene

Pathways & Interactions for EPG5 Gene

No Data Available

Interacting Proteins for EPG5 Gene

STRING Interaction Network Preview (showing 1 interactants - click image to see details)
Selected Interacting proteins: Q9HCE0-EPG5_HUMAN ENSP00000282041 for EPG5 Gene via IID STRING MINT

Gene Ontology (GO) - Biological Process for EPG5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006914 autophagy IEA --
GO:0032456 endocytic recycling IEA --
GO:0097352 autophagosome maturation IBA,IEA --
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

Unigene Clusters for EPG5 Gene

Ectopic P-granules autophagy protein 5 homolog (C. elegans):
Representative Sequences:

Clone Products

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

No ASD Table

Relevant External Links for EPG5 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for EPG5 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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, PaxDb, and MOPED for EPG5 Gene

NURSA nuclear receptor signaling pathways regulating expression of EPG5 Gene:


SOURCE GeneReport for Unigene cluster for EPG5 Gene:


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
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • lymphatic
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Head and neck:
  • brain
  • cerebellum
  • chin
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • head
  • jaw
  • lip
  • mandible
  • maxilla
  • mouth
  • outer ear
  • skull
  • heart
  • heart valve
  • lung
  • thymus
  • kidney
  • penis
  • urethra
  • digit
  • finger
  • foot
  • hand
  • lower limb
  • nail
  • toe
  • upper limb
  • 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

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
(Pan troglodytes)
Mammalia EPG5 33 34
  • 99.48 (n)
(Canis familiaris)
Mammalia EPG5 33 34
  • 90.33 (n)
(Bos Taurus)
Mammalia EPG5 33 34
  • 89.57 (n)
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 85 (a)
-- 34
  • 82 (a)
-- 34
  • 79 (a)
-- 34
  • 71 (a)
(Rattus norvegicus)
Mammalia Epg5 33
  • 84.05 (n)
(Mus musculus)
Mammalia Epg5 33 16 34
  • 83.93 (n)
(Monodelphis domestica)
Mammalia EPG5 34
  • 81 (a)
(Gallus gallus)
Aves EPG5 33 34
  • 71.25 (n)
(Anolis carolinensis)
Reptilia EPG5 34
  • 71 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia epg5 33
  • 65.32 (n)
Str.6571 33
(Danio rerio)
Actinopterygii si:dkey-165i4.3 33
  • 62.3 (n)
EPG5 34
  • 57 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG14299 33 34
  • 41.63 (n)
(Caenorhabditis elegans)
Secernentea epg-5 33 34
  • 39.27 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 28 (a)
Species where no ortholog for EPG5 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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 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

Gene Tree for EPG5 (if available)
Gene Tree for EPG5 (if available)

Paralogs for EPG5 Gene

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

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

No data available for Paralogs for EPG5 Gene

Variants for EPG5 Gene

Sequence variations from dbSNP and Humsavar for EPG5 Gene

SNP ID Clin Chr 18 pos Variation AA Info Type
rs1057516194 uncertain-significance, Absent corpus callosum cataract immunodeficiency 45,865,629(-) A/ coding_sequence_variant, frameshift, non_coding_transcript_variant
rs1057519318 likely-pathogenic, Absent corpus callosum cataract immunodeficiency 45,899,548(-) TT/T coding_sequence_variant, frameshift, non_coding_transcript_variant
rs1085308061 pathogenic, Absent corpus callosum cataract immunodeficiency 45,910,719(-) C/T coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs1085308062 pathogenic, Absent corpus callosum cataract immunodeficiency 45,930,735(-) CC/CCC 5_prime_UTR_variant, coding_sequence_variant, frameshift, non_coding_transcript_variant
rs114131140 benign, Absent corpus callosum cataract immunodeficiency 45,880,089(-) A/G coding_sequence_variant, non_coding_transcript_variant, synonymous_variant

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

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

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)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

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

Disorders for EPG5 Gene

MalaCards: The human disease database

(3) MalaCards diseases for EPG5 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
vici syndrome
  • vicis
spastic paraplegia 49, autosomal recessive
  • spg49
  • oriental liver fluke disease
- elite association - COSMIC cancer census association via MalaCards
Search EPG5 in MalaCards View complete list of genes associated with diseases


  • 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}. Note=The disease is caused by mutations 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 58
  2. C. elegans screen identifies autophagy genes specific to multicellular organisms. (PMID: 20550938) Tian Y … Zhang H (Cell 2010) 2 3 4 58
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  4. Prediction of the coding sequences of unidentified human genes. XVIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PMID: 10997877) Nagase T … Ohara O (DNA research : an international journal for rapid publication of reports on genes and genomes 2000) 3 4 58
  5. 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 58

Products for EPG5 Gene

Sources for EPG5 Gene

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