YWHAE (tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein epsilon)

2003-06-01 Affiliation

Identity

HGNC

YWHAE

LOCATION

17p13.3

LOCUSID

7531

ALIAS

14-3-3E,HEL2,KCIP-1,MDCR,MDS

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: 7531
MIM: 605066
HGNC: 12851
Ensembl: ENSG00000108953

Variants:

dbSNP: 7531
ClinVar: 7531
TCGA: ENSG00000108953
COSMIC: YWHAE

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000108953	ENST00000264335	P62258
ENSG00000108953	ENST00000264335	V9HW98
ENSG00000108953	ENST00000466227	K7EIT4
ENSG00000108953	ENST00000496706	K7EM20
ENSG00000108953	ENST00000571732	P62258
ENSG00000108953	ENST00000573026	I3L0W5
ENSG00000108953	ENST00000573196	B4DJF2
ENSG00000108953	ENST00000575977	I3L3T1

Expression (GTEx)

100

200

300

400

500

600

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

Pathways

Pathway	Source	External ID
Cell cycle	KEGG	ko04110
Cell cycle	KEGG	hsa04110
Neurotrophin signaling pathway	KEGG	ko04722
Neurotrophin signaling pathway	KEGG	hsa04722
Oocyte meiosis	KEGG	ko04114
Oocyte meiosis	KEGG	hsa04114
Epstein-Barr virus infection	KEGG	hsa05169
Epstein-Barr virus infection	KEGG	ko05169
Viral carcinogenesis	KEGG	hsa05203
Viral carcinogenesis	KEGG	ko05203
PI3K-Akt signaling pathway	KEGG	hsa04151
PI3K-Akt signaling pathway	KEGG	ko04151
Hippo signaling pathway	KEGG	hsa04390
Hippo signaling pathway	KEGG	ko04390
Organelle biogenesis and maintenance	REACTOME	R-HSA-1852241
Cilium Assembly	REACTOME	R-HSA-5617833
Anchoring of the basal body to the plasma membrane	REACTOME	R-HSA-5620912
Disease	REACTOME	R-HSA-1643685
Signal Transduction	REACTOME	R-HSA-162582
Signalling by NGF	REACTOME	R-HSA-166520
p75 NTR receptor-mediated signalling	REACTOME	R-HSA-193704
Cell death signalling via NRAGE, NRIF and NADE	REACTOME	R-HSA-204998
NADE modulates death signalling	REACTOME	R-HSA-205025
Signaling by Rho GTPases	REACTOME	R-HSA-194315
RHO GTPase Effectors	REACTOME	R-HSA-195258
RHO GTPases activate PKNs	REACTOME	R-HSA-5625740
Signaling by Hippo	REACTOME	R-HSA-2028269
Gene Expression	REACTOME	R-HSA-74160
Generic Transcription Pathway	REACTOME	R-HSA-212436
Transcriptional Regulation by TP53	REACTOME	R-HSA-3700989
TP53 Regulates Metabolic Genes	REACTOME	R-HSA-5628897
Cell Cycle	REACTOME	R-HSA-1640170
Cell Cycle Checkpoints	REACTOME	R-HSA-69620
G2/M Checkpoints	REACTOME	R-HSA-69481
G2/M DNA damage checkpoint	REACTOME	R-HSA-69473
Chk1/Chk2(Cds1) mediated inactivation of Cyclin B:Cdk1 complex	REACTOME	R-HSA-75035
Cell Cycle, Mitotic	REACTOME	R-HSA-69278
Mitotic G2-G2/M phases	REACTOME	R-HSA-453274
G2/M Transition	REACTOME	R-HSA-69275
Regulation of PLK1 Activity at G2/M Transition	REACTOME	R-HSA-2565942
Centrosome maturation	REACTOME	R-HSA-380287
Recruitment of mitotic centrosome proteins and complexes	REACTOME	R-HSA-380270
Loss of proteins required for interphase microtubule organization from the centrosome	REACTOME	R-HSA-380284
Loss of Nlp from mitotic centrosomes	REACTOME	R-HSA-380259
Vesicle-mediated transport	REACTOME	R-HSA-5653656
Membrane Trafficking	REACTOME	R-HSA-199991
Translocation of GLUT4 to the plasma membrane	REACTOME	R-HSA-1445148
Programmed Cell Death	REACTOME	R-HSA-5357801
Apoptosis	REACTOME	R-HSA-109581
Intrinsic Pathway for Apoptosis	REACTOME	R-HSA-109606
Activation of BH3-only proteins	REACTOME	R-HSA-114452
Activation of BAD and translocation to mitochondria	REACTOME	R-HSA-111447
Cellular responses to stress	REACTOME	R-HSA-2262752
Cellular response to heat stress	REACTOME	R-HSA-3371556
HSF1 activation	REACTOME	R-HSA-3371511
Regulation of HSF1-mediated heat shock response	REACTOME	R-HSA-3371453
AURKA Activation by TPX2	REACTOME	R-HSA-8854518
Neurodegenerative Diseases	REACTOME	R-HSA-8863678
Deregulated CDK5 triggers multiple neurodegenerative pathways in Alzheimer's disease models	REACTOME	R-HSA-8862803
RAB GEFs exchange GTP for GDP on RABs	REACTOME	R-HSA-8876198

Protein levels (Protein atlas)

Not detected

Low

Medium

High

References

Pubmed ID	Year	Title	Citations
22607805	2012	The mitochondrial targeting chaperone 14-3-3ε regulates a RIG-I translocon that mediates membrane association and innate antiviral immunity.	85
18573912	2008	Chibby cooperates with 14-3-3 to regulate beta-catenin subcellular distribution and signaling activity.	57
22223660	2012	14-3-3 fusion oncogenes in high-grade endometrial stromal sarcoma.	50
12917326	2003	Regulation of molecular chaperone gene transcription involves the serine phosphorylation, 14-3-3 epsilon binding, and cytoplasmic sequestration of heat shock factor 1.	37
18658164	2008	Identification of YWHAE, a gene encoding 14-3-3epsilon, as a possible susceptibility gene for schizophrenia.	37
19584063	2009	Microdeletions including YWHAE in the Miller-Dieker syndrome region on chromosome 17p13.3 result in facial dysmorphisms, growth restriction, and cognitive impairment.	35
22456610	2012	The clinicopathologic features of YWHAE-FAM22 endometrial stromal sarcomas: a histologically high-grade and clinically aggressive tumor.	33
26998762	2016	A phosphomimetic-based mechanism of dengue virus to antagonize innate immunity.	32
17728103	2007	14-3-3epsilon inhibits MK5-mediated cell migration by disrupting F-actin polymerization.	28
23483955	2013	14-3-3ε overexpression contributes to epithelial-mesenchymal transition of hepatocellular carcinoma.	27

Citation

Dessen P

YWHAE (tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein epsilon)

Atlas Genet Cytogenet Oncol Haematol. 2003-06-01

Online version: http://atlasgeneticsoncology.org/gene/42859/ywhae