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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 Protein 5 Homolog 3 4
  • Ectopic P-Granules Autophagy Protein 5 Homolog (C. Elegans) 2
  • 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. An important paralog of this gene is LIX1.

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. 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).

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
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 dbSUPER 627.5 +0.5 538 2.8 MTA3 ZFX SP1 CBFA2T2 NKRF POLR2A ZNF687 TFE3 YY1 SP7 EPG5 HAUS1 GC18M045898
GH18J046172 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 34.5 -207.1 -207062 3.2 ZNF652 SP1 ZFX CTCF ELF3 NKRF POLR2A GTF2F1 ZNF687 ZSCAN21 C18orf25 HAUS1 EPG5 ENSG00000267724 GC18P046277
GH18J046013 Enhancer 1.1 FANTOM5 ENCODE dbSUPER 21.6 -46.3 -46285 0.3 CREM ZBED1 IKZF1 IKZF2 CBFB EED RUNX3 BCL11A BMI1 JUNB PSTPIP2 EPG5 RNY4P37 LOC100422497 RN7SKP26
GH18J045960 Enhancer 1.1 FANTOM5 ENCODE dbSUPER 22.4 +4.6 4628 3.8 IKZF1 IKZF2 PKNOX1 RUNX3 ELF1 SAP130 NR2F1 JUND MITF TEAD4 EPG5 PSTPIP2 RNY4P37 C18orf25 GC18M045898
GH18J045950 Enhancer 1.1 FANTOM5 Ensembl ENCODE dbSUPER 18.8 +13.1 13148 7.8 POLR2A CEBPB FOS JUND JUN PRDM6 EPG5 PSTPIP2 GC18M045898
- 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 UCSC Golden Path with GeneCards custom track

Genomic Locations for EPG5 Gene

Genomic Locations for EPG5 Gene
chr18:45,800,580-45,967,339
(GRCh38/hg38)
Size:
166,760 bases
Orientation:
Minus strand
chr18:43,427,574-43,547,305
(GRCh37/hg19)
Size:
119,732 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=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

    UniProtKB/Swiss-Prot:

neXtProt entry for EPG5 Gene

Post-translational modifications for EPG5 Gene

  • Ubiquitination at isoforms=21368
  • Modification sites at PhosphoSitePlus

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:
ProtoNet:

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 Model Products

CRISPR Products

Clone Products

  • Applied Biological Materials (abm): Clones for EPG5 - Now 50% OFF >
  • * EPG5 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
  • * EPG5 tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All

No data available for Enzyme Numbers (IUBMB) , Animal Models , 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
mitochondrion 1
endosome 1
endoplasmic reticulum 0

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 IDA 29130391
GO:0048471 perinuclear region of cytoplasm 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 IBA,IEA 21873635
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

Unigene Clusters for EPG5 Gene

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

CRISPR Products

Clone Products

  • Applied Biological Materials (abm): Clones for EPG5 - Now 50% OFF >
  • * EPG5 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
  • * EPG5 tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All

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

No ASD Table

Relevant External Links for EPG5 Gene

GeneLoc Exon Structure for
EPG5
ECgene alternative splicing isoforms for
EPG5

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 and MOPED for EPG5 Gene



NURSA nuclear receptor signaling pathways regulating expression of EPG5 Gene:

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

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 35 34
  • 99.48 (n)
OneToOne
dog
(Canis familiaris)
Mammalia EPG5 35 34
  • 90.33 (n)
OneToOne
cow
(Bos Taurus)
Mammalia EPG5 35 34
  • 89.57 (n)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 85 (a)
OneToMany
-- 35
  • 82 (a)
OneToMany
-- 35
  • 79 (a)
OneToMany
-- 35
  • 71 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Epg5 34
  • 84.05 (n)
mouse
(Mus musculus)
Mammalia Epg5 17 35 34
  • 83.93 (n)
oppossum
(Monodelphis domestica)
Mammalia EPG5 35
  • 81 (a)
OneToOne
chicken
(Gallus gallus)
Aves EPG5 35 34
  • 71.25 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia EPG5 35
  • 71 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia epg5 34
  • 65.32 (n)
Str.6571 34
zebrafish
(Danio rerio)
Actinopterygii si:dkey-165i4.3 34
  • 62.3 (n)
EPG5 35
  • 57 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG14299 35 34
  • 41.63 (n)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea epg-5 35 34
  • 39.27 (n)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 28 (a)
OneToOne
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

ENSEMBL:
Gene Tree for EPG5 (if available)
TreeFam:
Gene Tree for EPG5 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for EPG5: view image

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 from dbSNP and Humsavar for EPG5 Gene

SNP ID Clin Chr 18 pos Variation AA Info Type
rs1057516194 uncertain-significance, Vici syndrome 45,865,629(-) A/ coding_sequence_variant, frameshift, non_coding_transcript_variant
rs1057519318 likely-pathogenic, Vici syndrome 45,899,548(-) TT/T coding_sequence_variant, frameshift, non_coding_transcript_variant
rs1085308061 pathogenic, Vici syndrome, Vici syndrome (VICIS) [MIM:242840] 45,910,719(-) C/T coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs1085308062 pathogenic, Vici syndrome 45,930,735(-) CC/CCC 5_prime_UTR_variant, coding_sequence_variant, frameshift, non_coding_transcript_variant
rs11333207 benign, not specified, Vici syndrome 45,865,766(-) AAAAAAAAAAAAAAAAA/AAAAAAAAAA/AAAAAAAAAAAAA/AAAAAAAAAAAAAA/AAAAAAAAAAAAAAA/AAAAAAAAAAAAAAAA/AAAAAAAAAAAAAAAAAA/AAAAAAAAAAAAAAAAAAA/AAAAAAAAAAAAAAAAAAAA/AAAAAAAAAAAAAAAAAAAAA/AAAAAAAAAAAAAAAAAAAAAA/AAAAAAAAAAAAAAAAAAAAAAA/AAAAAAAAAAAAAAAAAAAAAAAAA/AAAAAAAAAAAAAAAAAAAAAAAAAA/AAAAAAAAAAAAAAAAAAAAAAAAAAA/AAAAAAAAAAAAAAAAAAAAAAAAAAAA/AAAAAAAAAAAAAAAAAAAAAAAAAAAAA intron_variant

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

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

SNP Genotyping and Copy Number Assay Products

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
clonorchiasis
  • oriental liver fluke disease
- 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 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. 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 58
  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 58
  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 58

Products for EPG5 Gene

Sources for EPG5 Gene

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