EPS8L3 (EPS8 like 3)

2019-08-01  

Identity

HGNC
EPS8L3
LOCATION
1p13.3
LOCUSID
79574
ALIAS
EPS8R3,HYPT5

Other Information

Locus ID:

NCBI: 79574
MIM: 614989
HGNC: 21297
Ensembl: ENSG00000198758

Variants:

dbSNP: 79574
ClinVar: 79574
TCGA: ENSG00000198758
COSMIC: EPS8L3

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000198758ENST00000361852Q8TE67
ENSG00000198758ENST00000361965Q8TE67
ENSG00000198758ENST00000369805Q8TE67
ENSG00000198758ENST00000472325A0A087X104

Expression (GTEx)

0
50
100
150
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
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
230996472012Exome sequencing identified a missense mutation of EPS8L3 in Marie Unna hereditary hypotrichosis.3
299407612018Overexpression of EPS8L3 promotes cell proliferation by inhibiting the transactivity of FOXO1 in HCC.2
313222132019Upregulation of EPS8L3 is associated with tumorigenesis and poor prognosis in patients with liver cancer.0

Citation

Dessen P

EPS8L3 (EPS8 like 3)

Atlas Genet Cytogenet Oncol Haematol. 2019-08-01

Online version: http://atlasgeneticsoncology.org/gene/58049/eps8l3