EPG5 (ectopic P-granules autophagy protein 5 homolog)

2017-10-01 Affiliation

Identity

HGNC

EPG5

LOCATION

18q12.3

LOCUSID

57724

ALIAS

HEEW1,KIAA1632,VICIS

FUSION GENES

Show Gene Fusions

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

NCBI: 57724
MIM: 615068
HGNC: 29331
Ensembl: ENSG00000152223

Variants:

dbSNP: 57724
ClinVar: 57724
TCGA: ENSG00000152223
COSMIC: EPG5

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000152223	ENST00000282041	Q9HCE0
ENSG00000152223	ENST00000587884	K7ENK5
ENSG00000152223	ENST00000590854	K7ENS1
ENSG00000152223	ENST00000590884	K7EM87
ENSG00000152223	ENST00000592272	K7EPN4

Expression (GTEx)

Adipose - Subcutaneous

Adipose - Visceral

Adrenal Gland

Artery - Aorta

Artery - Tibial

Bladder

Brain - Amygdala

Brain - Anterior cingulate cortex

Brain - Caudate

Brain - Cerebellar Hemisphere

Brain - Cerebellum

Brain - Cortex

Brain - Frontal Cortex

Brain - Hippocampus

Brain - Hypothalamus

Brain - Nucleus accumbens

Brain - Putamen

Brain - Spinal cord

Brain - Substantia nigra

Breast - Mammary Tissue

Cells - Cultured fibroblasts

Cells - EBV - transformed lymphocytes

Cervix - Ectocervix

Cervix - Endocervix

Colon - Sigmoid

Colon - Transverse

Esophagus - Gastroesophageal Junction

Esophagus - Mucosa

Esophagus - Muscularis

Fallopian Tube

Heart - Atrial Appendage

Heart - Left Ventricle

Kidney - Cortex

Kidney - Medulla

Liver

Lung

Minor Salivary Gland

Muscle - Skeletal

Nerve - Tibial

Ovary

Pancreas

Pituitary

Prostate

Skin - Not Sun Exposed

Skin - Sun Exposed

Small Intestine - Terminal Ileum

Spleen

Stomach

Testis

Thyroid

Uterus

Vagina

Whole Blood

Protein levels (Protein atlas)

Not detected

Low

Medium

High

References

Pubmed ID	Year	Title	Citations
34689707	2022	Human platelets display dysregulated sepsis-associated autophagy, induced by altered LC3 protein-protein interaction of the Vici-protein EPG5.	5
36410285	2022	Phenotypic expansion of EGP5-related Vici syndrome: 15 Dutch patients carrying a founder variant.	1
34689707	2022	Human platelets display dysregulated sepsis-associated autophagy, induced by altered LC3 protein-protein interaction of the Vici-protein EPG5.	5
36410285	2022	Phenotypic expansion of EGP5-related Vici syndrome: 15 Dutch patients carrying a founder variant.	1
33674710	2021	Insights on autophagosome-lysosome tethering from structural and biochemical characterization of human autophagy factor EPG5.	7
34264147	2021	Ophthalmic findings as clues for early diagnosis of Vici syndrome in a neonate.	0
33674710	2021	Insights on autophagosome-lysosome tethering from structural and biochemical characterization of human autophagy factor EPG5.	7
34264147	2021	Ophthalmic findings as clues for early diagnosis of Vici syndrome in a neonate.	0
31184778	2020	EPG5 c.1007A > G mutation in a sibling pair with rapidly progressing Vici syndrome.	3
31184778	2020	EPG5 c.1007A > G mutation in a sibling pair with rapidly progressing Vici syndrome.	3
31410206	2019	C-myc/miR-150/EPG5 axis mediated dysfunction of autophagy promotes development of non-small cell lung cancer.	30
31410206	2019	C-myc/miR-150/EPG5 axis mediated dysfunction of autophagy promotes development of non-small cell lung cancer.	30
29130391	2018	The Vici syndrome protein EPG5 regulates intracellular nucleic acid trafficking linking autophagy to innate and adaptive immunity.	11
29227033	2018	Autopsy findings in EPG5-related Vici syndrome with antenatal onset: Additional report of Focal cortical microdysgenesis in a second trimester fetus.	2
30152144	2018	Novel compound heterozygous EPG5 mutations consisted with a missense mutation and a microduplication in the exon 1 region identified in a Japanese patient with Vici syndrome.	1

Citation

Dessen P

EPG5 (ectopic P-granules autophagy protein 5 homolog)

Atlas Genet Cytogenet Oncol Haematol. 2017-10-01

Online version: http://atlasgeneticsoncology.org/gene/57126/teaching-explorer/welcome