Free for academic non-profit institutions. Other users need a Commercial license

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.

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

Regulatory Elements for EPG5 Gene

Enhancers for EPG5 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH18G045960 1.6 FANTOM5 Ensembl ENCODE dbSUPER 22.5 +4.6 4629 3.8 PKNOX1 ESRRA SAP130 RELB IKZF2 MTA2 NR2F1 BHLHE40 USF2 EP300 EPG5 PSTPIP2 RNY4P37 C18orf25 GC18M045898
GH18G046013 1.3 FANTOM5 ENCODE dbSUPER 21.5 -46.3 -46285 0.3 CBFB ZBED1 JUNB BMI1 EP300 GABPA ARID3A CBX5 EED IKZF1 PSTPIP2 EPG5 RNY4P37 LOC100422497 RN7SKP26
GH18G045782 1.6 FANTOM5 Ensembl ENCODE dbSUPER 17.1 +183.8 183832 2.4 ZFP64 TEAD4 ZNF140 ZNF266 ZNF101 ZNF697 ZNF791 ZNF138 ZNF433 ZNF202 HAUS1 EPG5 C18orf25 SLC14A1 LOC105372093 ENSG00000267558
GH18G046172 1.1 ENCODE 24.3 -206.9 -206919 2.7 HDGF HNRNPUL1 PKNOX1 CREB3L1 ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 EPG5 HAUS1 C18orf25 GC18P046277
GH18G045950 1.4 FANTOM5 Ensembl ENCODE dbSUPER 18.8 +13.1 13148 7.8 JUN BHLHE40 SIN3A CEBPB KAT2B NFIC JUND PRDM6 FOS MAFK EPG5 PSTPIP2 GC18M045898
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around EPG5 on UCSC Golden Path with GeneCards custom track

Promoters for EPG5 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000102841 339 2001 HDGF PKNOX1 ARID4B SIN3A DMAP1 YY1 ZNF143 ZNF207 FOS DEK

Genomic Location for EPG5 Gene

Chromosome:
18
Start:
45,800,580 bp from pter
End:
45,967,339 bp from pter
Size:
166,760 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:
    No Data Available
    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

Protein Domains for EPG5 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for EPG5 Gene

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

No data available for Gene Families for EPG5 Gene

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.
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

Inhibitory RNA 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

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
nucleus 4
plasma membrane 3
lysosome 2
endoplasmic reticulum 1
endosome 1

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)
http://version10.5.string-db.org/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000282041%0d%0a9606.ENSP00000261168%0d%0a
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:

Inhibitory RNA Products

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, PaxDb, 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(4.3)

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
Organs:
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

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 34 35
  • 99.48 (n)
dog
(Canis familiaris)
Mammalia EPG5 34 35
  • 90.33 (n)
cow
(Bos Taurus)
Mammalia EPG5 34 35
  • 89.57 (n)
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 34 16 35
  • 83.93 (n)
oppossum
(Monodelphis domestica)
Mammalia EPG5 35
  • 81 (a)
OneToOne
chicken
(Gallus gallus)
Aves EPG5 34 35
  • 71.25 (n)
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 34 35
  • 41.63 (n)
worm
(Caenorhabditis elegans)
Secernentea epg-5 34 35
  • 39.27 (n)
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)

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 Sequence Context AA Info Type
rs116076204 A breast cancer sample 45,870,626(+) TTTCC(A/C/G)GTACG nc-transcript-variant, reference, missense
rs201757275 Likely pathogenic, Vici syndrome (VICIS) [MIM:242840] 45,954,395(+) ATACC(C/T)GTACA nc-transcript-variant, upstream-variant-2KB, reference, missense
VAR_036525 A breast cancer sample
VAR_036526 A breast cancer sample
rs587776939 Pathogenic 45,901,054(+) CTTCT(A/G)ACTCA nc-transcript-variant, reference, stop-gained

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)

Relevant External Links for EPG5 Gene

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

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: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
vici syndrome
  • immunodeficiency with cleft lip/palate, cataract, hypopigmentation, and absent corpus callosum
spastic paraplegia 49, autosomal recessive
  • hereditary spastic paraplegia 49
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}. 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}.

Relevant External Links for EPG5

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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. (Nat. Genet. 2013) 2 3 4 64
  2. C. elegans screen identifies autophagy genes specific to multicellular organisms. (PMID: 20550938) Tian Y. … Zhang H. (Cell 2010) 2 3 4 64
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  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 Res. 2000) 3 4 64
  5. Two cases of Vici syndrome associated with Idiopathic Thrombocytopenic Purpura (ITP) with a review of the literature. (PMID: 26854214) Huenerberg K. … Duong A. (Am. J. Med. Genet. A 2016) 3 64

Products for EPG5 Gene

Sources for EPG5 Gene

Content
Loading form....