Gene Gene information from NCBI Gene database.
Entrez ID 57724
Gene name Ectopic P-granules 5 autophagy tethering factor
Gene symbol EPG5
Synonyms (NCBI Gene)
HEEW1KIAA1632VICIS
Chromosome 18
Chromosome location 18q12.3-q21.1
Summary 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]
SNPs SNP information provided by dbSNP.
64
SNP ID Visualize variation Clinical significance Consequence
rs61978576 A>G Conflicting-interpretations-of-pathogenicity Coding sequence variant, non coding transcript variant, 5 prime UTR variant, missense variant
rs116076204 G>A,C Uncertain-significance, conflicting-interpretations-of-pathogenicity Missense variant, non coding transcript variant, coding sequence variant
rs183478189 A>C Pathogenic Genic upstream transcript variant, non coding transcript variant, stop gained, upstream transcript variant, coding sequence variant
rs190673127 C>A,T Pathogenic, uncertain-significance Missense variant, genic upstream transcript variant, non coding transcript variant, stop gained, upstream transcript variant, coding sequence variant
rs200530606 G>A Conflicting-interpretations-of-pathogenicity Missense variant, genic upstream transcript variant, non coding transcript variant, upstream transcript variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
891
miRTarBase ID miRNA Experiments Reference
MIRT050152 hsa-miR-26a-5p CLASH 23622248
MIRT611718 hsa-miR-8485 HITS-CLIP 23313552
MIRT611717 hsa-miR-329-3p HITS-CLIP 23313552
MIRT611716 hsa-miR-362-3p HITS-CLIP 23313552
MIRT611715 hsa-miR-570-3p HITS-CLIP 23313552
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
38
GO ID Ontology Definition Evidence Reference
GO:0002385 Process Mucosal immune response IEA
GO:0005515 Function Protein binding IPI 29130391
GO:0005737 Component Cytoplasm IBA
GO:0005737 Component Cytoplasm IEA
GO:0005764 Component Lysosome IDA 29130391
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
615068 29331 ENSG00000152223
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9HCE0
Protein name Ectopic P granules protein 5 homolog
Protein 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 fro
PDB 7JHX
Family and domains
Sequence
MAEAVKPQRRAKAKASRTKTKEKKKYETPQREESSEVSLPKTSREQEIPSLACEFKGDHL
KVVTDSQLQDDASGQNESEMFDVPLTSLTISNEESLTCNTEPPKEGGEARPCVGDSAVTP
KVHPGDNVGTKVETPKNFTEVEENMSVQGGLSESAPQSNFSYTQPAMENIQVRETQNSKE
DKQGLVCSSEVPQNVGLQSSCPAKHGFQTPRVKKLYPQLPAEIAGEAPALVAVKPLLRSE
RLYPELPSQLELVPFTKEQLKILEPGSWLENVESYLEEFDSMAHQDRHEFYELLLNYSRC
RKQLLLAEAELLTLTSDCQNAKSRLWQFKEEQMSVQGICADQVKVFSYHRYQRVEMNENA
LVELKKLFDAKSEHLHQTLALHSYTSVLSRLQVESYIYALLSSSAVLRSSAIHQQGRASK
QTESIPSDLCQLKECISVLFMFTRRVNEDTQFHDDILLWLQKLVSVLQRVGCPGDHLFLL
NHILRCPAGVSKWAVPFIQIKVLHNPSGVFHFMQSLALLMSPVKNRAEFMCHMKPSERKP
SSSGPGSGTWTLVDEGGEEDEDPETSWILLNEDDLVTILAQFPFHELFQHLLGFKAKGDY
LPETTRPQEMMKIFAFANSLVELLAVGLETFNRARYRQFVKRIGYMIRMTLGYVSDHWAQ
YVSHNQGSGLAQQPYSMEKLQVEFDELFLRAVLHVLKAKRLGIWLFMSEMPFGTLSVQML
WKLFYLMHQVESENLQQLSSSLQPAQCKQQLQDPEHFTNFEKCLSSMNSSEEICLLTTFA
QMAQARRTNVDEDFIKIIVLEIYEVSYVTLSTRETFSKVGRELLGTITAVHPEIISVLLD
RVQETIDQVGMVSLYLFKELPLYLWQPSASEIAVIRDWLLNYNLTVVKNKLACVILEGLN
WGFAKQATLHLDQAVHAEVALMVLEAYQKYLAQKPYAGILSESMKQVSYLASIVRYGETP
ETSFNQWAWNLILRLKLHKNDYGIQPNCPAVPFSVTVPDMTESPTFHPLLKAVKAGMPIG
CYLALSMTAVGHSIEKFCAEGIPLLGILVQSRHLRTVVHVLDKILPLFYPCQYYLLKNEQ
FLSHLLLFLHLDSGVPQGVTQQVTHKVAQHLTGASHGDNVKLLNSMIQAHISVSTQPNEV
GPVAVLEFWVQALISQHLWYREQPILFLMDHLCKAAFQLMQEDCIQKLLYQQHKNALGYH
CDRSLLSSLVSWIVAGNITPSFVEGLATPTQVWFAWTVLNMESIFEEDSQLRRVIEGELV
INSAFTPDQALKKAQTQLKLPIVPSLQRLLIYRWAHQALVTPSDHPLLPLIWQKFFLLYL
HRPGPQYGLPIDGCIGRRFFQSPAHINLLKEMKRRLTEVADFHHAASKALRVPAEGSEGL
PESHSGTPGYLTSPELHKELVRLFNVYILWLEDENFQKGDTYIPSLPKHYDIHRLAKVMQ
NQQDLWMEYLNMERIYHEFQETVGLWTQAKLESHSTPCSLSVQLDFTDPLLAKERVLSNL
RKHEAPQPPLALHPTKPPVPVISSAVLLSQKDATQLVCTDLNLLQQQARTAALRESQQVA
LDGELLDTMPKQYVNREEQTTLHLECRGSSGKKCQGAAVVTVQFEGMHKNEAISQQLHVL
RKEVKQLQAEAAKPPSLNIVEAAVHAENLITALVNAYKLQPTPGIQKVGISLFFTIVDYV
SDETQRHPPTRQFFTSCIEILGQVFISGIKSECRKVLETILKNSRLCSLLSPFFTPNAAP
AEFIQLYEQVVKFLSEDNSDMIFMLLTKFDLKQWLSATKPPLSDRTRLLESIHLALTAWG
LEPDEDILMPFNLFCKHWTYLLLYQFPDQYSDILRLLMQSSAEQLLSPECWKATLRALGC
CAPSCQQGAASTEGAVLPSSSDALLSDKQVMETIQWLSDFFYKLRLSKMDFKSFGLFSKW
SPYMADVKTFLGYLVKRLIDLEMTCLAQDPTASRKTVLKSLHSVIIQLFKPWILVLEDNE
SSQQRHYPWLESDTVVASSIVQLFTDCIDSLHESFKDKLLPGDAGALWLHLMHYCEACTA
PKMPEFILYAFHSTYRKLPWKDLHPDQMLMEAFFKVERGSPKSCFLFLGSVLCEVNWVSV
LSDAWNSSPHPETRSMIVCLLFMMILLAKEVQLVDQTDSPLLSLLGQTSSLSWHLVDIVS
YQSVLSYFSSHYPPSIILAKESYAELIMKLLKVSAGLSIPTDSQKHLDAVPKCQAFTHQM
VQFLSTLEQNGKITLAVLEQEMSKLLDDIIVFNPPDMDSQTRHMALSSLFMEVLMMMNNA
TIPTAEFLRGSIRTWIGQKMHGLVVLPLLTAACQSLASVRHMAETTEACITAYFKESPLN
QNSGWGPILVSLQVPELTMEEFLQECLTLGSYLTLYVYLLQCLNSEQTLRNEMKVLLILS
KWLEQVYPSSVEEEAKLFLWWHQVLQLSLIQTEQNDSVLTESVIRILLLVQSRQNLVAEE
RLSSGILGAIGFGRKSPLSNRFRVVARSMAAFLSVQVPMEDQIRLRPGSELHLTPKAQQA
LNALESMASSKQYVEYQDQILQATQFIRHPGHCLQDGKSFLALLVNCLYPEVHYLDHIR
Sequence length 2579
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG 
  Autophagy - animal  
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
29
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
EPG5-related disorder Likely pathogenic; Pathogenic rs1422488942, rs2511700032, rs2512124332, rs746074230, rs1599426021, rs587776940, rs780889226, rs986592823 RCV003395713
RCV003397003
RCV003406222
RCV003400192
RCV003408483
View all (3 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Malignant tumor of urinary bladder Likely pathogenic rs1064795606 RCV005899661
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Syndromic retinitis pigmentosa Pathogenic; Likely pathogenic rs886276412, rs1479239564 RCV001003007
RCV001003008
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Vici syndrome Likely pathogenic; Pathogenic rs372940918, rs2145173322, rs769833086, rs748670315, rs761554022, rs2145713137, rs2145393546, rs370720753, rs2049301523, rs2145422618, rs763931697, rs2145474267, rs2145807103, rs2145667073, rs2050008898
View all (138 more)
RCV001332380
RCV001388703
RCV001385017
RCV002568176
RCV001783200
View all (149 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
BRONCHIAL DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHIES CTD, Disgenet
CTD, Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Absent corpus callosum cataract immunodeficiency Vici syndrome BEFREE 23222957, 25331754, 26715604, 26764600, 26917586, 26927810, 27588602, 28168853, 28615637, 28624465, 28748650, 29130391, 29681093, 30152144, 30806141
View all (3 more)
★☆☆☆☆
Found in Text Mining only
Absent corpus callosum cataract immunodeficiency Vici syndrome ORPHANET_DG 23222957
★☆☆☆☆
Found in Text Mining only
Absent corpus callosum cataract immunodeficiency Vici syndrome GENOMICS_ENGLAND_DG 23222957, 26395118, 26927810, 28624465, 3344762
★☆☆☆☆
Found in Text Mining only
Absent corpus callosum cataract immunodeficiency Vici syndrome UNIPROT_DG 23222957, 25331754, 26917586, 27343256, 28168853, 29130391
★☆☆☆☆
Found in Text Mining only
Absent corpus callosum cataract immunodeficiency Vici syndrome CLINVAR_DG 23222957, 23674064, 25331754, 26917586, 27343256, 29130391
★☆☆☆☆
Found in Text Mining only
Absent corpus callosum cataract immunodeficiency Vici syndrome CTD_human_DG 23222957
★☆☆☆☆
Found in Text Mining only
Agenesis of corpus callosum Agenesis Of Corpus Callosum BEFREE 28168853
★☆☆☆☆
Found in Text Mining only
Agenesis of corpus callosum Agenesis Of Corpus Callosum HPO_DG
★☆☆☆☆
Found in Text Mining only
Albinism Albinism HPO_DG
★☆☆☆☆
Found in Text Mining only
Albinism, Ocular Ocular albinism HPO_DG
★☆☆☆☆
Found in Text Mining only