Gene Gene information from NCBI Gene database.
Entrez ID 7531
Gene name Tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein epsilon
Gene symbol YWHAE
Synonyms (NCBI Gene)
14-3-3EHEL2KCIP-1MDCRMDS
Chromosome 17
Chromosome location 17p13.3
Summary This gene product belongs to the 14-3-3 family of proteins which mediate signal transduction by binding to phosphoserine-containing proteins. This highly conserved protein family is found in both plants and mammals, and this protein is 100% identical to t
miRNA miRNA information provided by mirtarbase database.
1399
miRTarBase ID miRNA Experiments Reference
MIRT028656 hsa-miR-30a-5p Proteomics 18668040
MIRT051964 hsa-let-7b-5p CLASH 23622248
MIRT051565 hsa-let-7e-5p CLASH 23622248
MIRT050142 hsa-miR-26a-5p CLASH 23622248
MIRT049920 hsa-miR-30a-3p CLASH 23622248
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
74
GO ID Ontology Definition Evidence Reference
GO:0000165 Process MAPK cascade IDA 12917326
GO:0001764 Process Neuron migration IEA
GO:0002753 Process Cytoplasmic pattern recognition receptor signaling pathway IDA 20451243
GO:0002753 Process Cytoplasmic pattern recognition receptor signaling pathway IDA 22607805
GO:0003064 Process Regulation of heart rate by hormone NAS 11953308
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
605066 12851 ENSG00000108953
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P62258
Protein name 14-3-3 protein epsilon (14-3-3E)
Protein function Adapter protein implicated in the regulation of a large spectrum of both general and specialized signaling pathways (PubMed:21189250). Binds to a large number of partners, usually by recognition of a phosphoserine or phosphothreonine motif (PubM
PDB 2BR9 , 3UAL , 3UBW , 6EIH , 7C8E , 7V9B , 8DGM , 8DGN , 8DGP , 8DP5 , 8Q1S
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00244 14-03-2003 10 232 14-3-3 protein Domain
Sequence
Sequence length 255
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Cell cycle
Oocyte meiosis
PI3K-Akt signaling pathway
Hippo signaling pathway
NOD-like receptor signaling pathway
Neurotrophin signaling pathway
Hepatitis C
Viral carcinogenesis
  Activation of BAD and translocation to mitochondria
Signaling by Hippo
NADE modulates death signalling
Regulation of PLK1 Activity at G2/M Transition
Regulation of HSF1-mediated heat shock response
HSF1 activation
Loss of Nlp from mitotic centrosomes
Recruitment of mitotic centrosome proteins and complexes
Loss of proteins required for interphase microtubule organization from the centrosome
Recruitment of NuMA to mitotic centrosomes
Anchoring of the basal body to the plasma membrane
RHO GTPases activate PKNs
TP53 Regulates Metabolic Genes
Chk1/Chk2(Cds1) mediated inactivation of Cyclin B:Cdk1 complex
AURKA Activation by TPX2
Deregulated CDK5 triggers multiple neurodegenerative pathways in Alzheimer's disease models
RAB GEFs exchange GTP for GDP on RABs
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
35
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
YWHAE-associated disorder Likely pathogenic rs2543550682 RCV003322696
★★★★☆
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
17P13.3 MICRODUPLICATION SYNDROME Disgenet, Orphanet
Disgenet, Orphanet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Acute myeloid leukemia Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Aganglionic megacolon Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ATRIAL FIBRILLATION GWAS catalog
★★☆☆☆
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
17p13.3 microduplication syndrome 17p13.3 Duplication Syndrome Orphanet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Acute Erythroblastic Leukemia Erythroblastic Leukemia BEFREE 29729583
★☆☆☆☆
Found in Text Mining only
Acute monocytic leukemia Monocytic Leukemia BEFREE 27881874
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 16369491
★☆☆☆☆
Found in Text Mining only
Adult Acute Myeloblastic Leukemia Myeloblastic Leukemia BEFREE 31744691
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease Alzheimer disease Pubtator 33254518 Associate
★☆☆☆☆
Found in Text Mining only
Anxiety Anxiety Disorder BEFREE 30032927, 31561398
★☆☆☆☆
Found in Text Mining only
Anxiety Disorders Anxiety Disorder BEFREE 30032927, 31561398
★☆☆☆☆
Found in Text Mining only
Aplastic Anemia Aplastic anemia BEFREE 28935248
★☆☆☆☆
Found in Text Mining only
Atrial Fibrillation Atrial fibrillation Pubtator 32478689 Associate
★★☆☆☆
Found in Text Mining + Unknown/Other Associations