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Aliases for YWHAE Gene

Aliases for YWHAE Gene

  • Tyrosine 3-Monooxygenase/Tryptophan 5-Monooxygenase Activation Protein, Epsilon 2 3
  • Tyrosine 3-Monooxygenase/Tryptophan 5-Monooxygenase Activation Protein, Epsilon Polypeptide 2 3
  • 14-3-3 Epsilon 2 3
  • 14-3-3E 3 4
  • Tyrosine 3/Tryptophan 5 -Monooxygenase Activation Protein, Epsilon Polypeptide 3
  • Mitochondrial Import Stimulation Factor L Subunit 3
  • Protein Kinase C Inhibitor Protein-1 3
  • Epididymis Luminal Protein 2 3
  • KCIP-1 3
  • MDCR 3
  • HEL2 3
  • MDS 3

External Ids for YWHAE Gene

Previous GeneCards Identifiers for YWHAE Gene

  • GC17P001321
  • GC17P001492
  • GC17M001198
  • GC17M001454
  • GC17M001194
  • GC17M001247
  • GC17M001148

Summaries for YWHAE Gene

Entrez Gene Summary for YWHAE Gene

  • 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 the mouse ortholog. It interacts with CDC25 phosphatases, RAF1 and IRS1 proteins, suggesting its role in diverse biochemical activities related to signal transduction, such as cell division and regulation of insulin sensitivity. It has also been implicated in the pathogenesis of small cell lung cancer. Two transcript variants, one protein-coding and the other non-protein-coding, have been found for this gene. [provided by RefSeq, Aug 2008]

GeneCards Summary for YWHAE Gene

YWHAE (Tyrosine 3-Monooxygenase/Tryptophan 5-Monooxygenase Activation Protein, Epsilon) is a Protein Coding gene. Diseases associated with YWHAE include distal 17p13.3 microdeletion syndrome and 17p13.3 microduplication syndrome. Among its related pathways are PI3K-Akt signaling pathway and Signaling by GPCR. GO annotations related to this gene include poly(A) RNA binding and enzyme binding. An important paralog of this gene is YWHAZ.

UniProtKB/Swiss-Prot for YWHAE Gene

  • Adapter protein implicated in the regulation of a large spectrum of both general and specialized signaling pathways. Binds to a large number of partners, usually by recognition of a phosphoserine or phosphothreonine motif. Binding generally results in the modulation of the activity of the binding partner

Tocris Summary for YWHAE Gene

  • 14.3.3 proteins are a group of highly conserved proteins that are involved in many vital cellular processes such as metabolism, protein trafficking, signal transduction, apoptosis and cell cycle regulation. 14.3.3 proteins are phospho-serine/-threonine binding proteins.

Gene Wiki entry for YWHAE Gene

No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for YWHAE Gene

Genomics for YWHAE Gene

Regulatory Elements for YWHAE Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for YWHAE Gene

Chromosome:
17
Start:
1,344,272 bp from pter
End:
1,400,378 bp from pter
Size:
56,107 bases
Orientation:
Minus strand

Genomic View for YWHAE Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for YWHAE Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for YWHAE Gene

Proteins for YWHAE Gene

  • Protein details for YWHAE Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P62258-1433E_HUMAN
    Recommended name:
    14-3-3 protein epsilon
    Protein Accession:
    P62258
    Secondary Accessions:
    • B3KY71
    • D3DTH5
    • P29360
    • P42655
    • Q4VJB6
    • Q53XZ5
    • Q63631
    • Q7M4R4

    Protein attributes for YWHAE Gene

    Size:
    255 amino acids
    Molecular mass:
    29174 Da
    Quaternary structure:
    • Homodimer. Heterodimerizes with YWHAZ. Interacts with NDEL1, ARHGEF28 and TIAM2 (By similarity). Interacts with HCV core protein. Interacts with ABL1 (phosphorylated form); the interaction retains it in the cytoplasm. Weakly interacts with CDKN1B. Interacts with GAB2. Interacts with phosphorylated GRB10. Interacts with PKA-phosphorylated AANAT. Interacts with the phosphorylated (by AKT1) form of SRPK2.

    Three dimensional structures from OCA and Proteopedia for YWHAE Gene

    Alternative splice isoforms for YWHAE Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for YWHAE Gene

Proteomics data for YWHAE Gene at MOPED

Post-translational modifications for YWHAE Gene

  • Ubiquitination at Lys 12, Lys 106, Lys 118, Lys 123, Lys 142, Lys 196, and Lys 244
  • Modification sites at PhosphoSitePlus

Other Protein References for YWHAE Gene

Antibody Products

  • R&D Systems Antibodies for YWHAE (14-3-3 epsilon)
  • Cell Signaling Technology (CST) Antibodies for YWHAE (14-3-3 epsilon)

No data available for DME Specific Peptides for YWHAE Gene

Domains & Families for YWHAE Gene

Protein Domains for YWHAE Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for YWHAE Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P62258

UniProtKB/Swiss-Prot:

1433E_HUMAN :
  • Belongs to the 14-3-3 family.
Family:
  • Belongs to the 14-3-3 family.
genes like me logo Genes that share domains with YWHAE: view

Function for YWHAE Gene

Molecular function for YWHAE Gene

GENATLAS Biochemistry:
tyrosine 3-monooxygenase/trytophan 5 monooxygenase activation protein,14-3-3 epsilon protein,multifunctional regulator involved in cell-cyle control (checkpoint) and signal transduction,inhibitor of apoptosis through inhibiting the activation of p38 MAP kinase
UniProtKB/Swiss-Prot Function:
Adapter protein implicated in the regulation of a large spectrum of both general and specialized signaling pathways. Binds to a large number of partners, usually by recognition of a phosphoserine or phosphothreonine motif. Binding generally results in the modulation of the activity of the binding partner

Gene Ontology (GO) - Molecular Function for YWHAE Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 1266503
GO:0015459 potassium channel regulator activity IDA 11953308
GO:0019899 enzyme binding IPI 10788521
GO:0019904 protein domain specific binding IEA --
GO:0023026 MHC class II protein complex binding IDA 20458337
genes like me logo Genes that share ontologies with YWHAE: view
genes like me logo Genes that share phenotypes with YWHAE: view

Animal Models for YWHAE Gene

MGI Knock Outs for YWHAE:

miRNA for YWHAE Gene

miRTarBase miRNAs that target YWHAE

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for YWHAE

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for YWHAE Gene

Localization for YWHAE Gene

Subcellular locations from UniProtKB/Swiss-Prot for YWHAE Gene

Cytoplasm. Melanosome. Note=Identified by mass spectrometry in melanosome fractions from stage I to stage IV.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for YWHAE Gene COMPARTMENTS Subcellular localization image for YWHAE gene
Compartment Confidence
extracellular 5
cytosol 4
cytoskeleton 2
mitochondrion 2
nucleus 1

Gene Ontology (GO) - Cellular Components for YWHAE Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IEA --
GO:0005829 cytosol TAS --
GO:0005871 kinesin complex IEA --
GO:0005925 focal adhesion IDA 21423176
GO:0016020 membrane IDA 19946888
genes like me logo Genes that share ontologies with YWHAE: view

Pathways & Interactions for YWHAE Gene

genes like me logo Genes that share pathways with YWHAE: view

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays

SIGNOR curated interactions for YWHAE Gene

Inactivates:

Gene Ontology (GO) - Biological Process for YWHAE Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000086 G2/M transition of mitotic cell cycle TAS --
GO:0000278 mitotic cell cycle TAS --
GO:0001764 neuron migration IEA --
GO:0003064 regulation of heart rate by hormone NAS 11953308
GO:0006367 transcription initiation from RNA polymerase II promoter TAS --
genes like me logo Genes that share ontologies with YWHAE: view

Drugs & Compounds for YWHAE Gene

(1) Drugs for YWHAE Gene - From: DrugBank

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Fusicoccin Experimental Pharma Target 0

(2) Additional Compounds for YWHAE Gene - From: Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Difopein
396834-58-5
R18
211364-78-2
genes like me logo Genes that share compounds with YWHAE: view

Transcripts for YWHAE Gene

Unigene Clusters for YWHAE Gene

Tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon polypeptide:
Representative Sequences:

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for YWHAE

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for YWHAE Gene

ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3a · 3b ^ 4a · 4b ^ 5a · 5b ^ 6 ^ 7 ^ 8a · 8b · 8c · 8d
SP1: - - -
SP2: - - - - -
SP3: -
SP4:
SP5: - - - - - - - -
SP6: -

Relevant External Links for YWHAE Gene

GeneLoc Exon Structure for
YWHAE
ECgene alternative splicing isoforms for
YWHAE

Expression for YWHAE Gene

mRNA expression in normal human tissues for YWHAE Gene

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for YWHAE Gene



SOURCE GeneReport for Unigene cluster for YWHAE Gene Hs.513851

genes like me logo Genes that share expression patterns with YWHAE: view

Protein tissue co-expression partners for YWHAE Gene

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for YWHAE Gene

Orthologs for YWHAE Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for YWHAE Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia YWHAE 35
  • 97.78 (n)
  • 100 (a)
YWHAE 36
  • 100 (a)
OneToOne
dog
(Canis familiaris)
Mammalia YWHAE 35
  • 97.52 (n)
  • 100 (a)
-- 36
  • 100 (a)
ManyToMany
mouse
(Mus musculus)
Mammalia Ywhae 35
  • 93.46 (n)
  • 100 (a)
Ywhae 16
Ywhae 36
  • 100 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia YWHAE 35
  • 99.87 (n)
  • 100 (a)
YWHAE 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ywhae 35
  • 92.68 (n)
  • 98.82 (a)
oppossum
(Monodelphis domestica)
Mammalia YWHAE 36
  • 92 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia YWHAE 36
  • 100 (a)
OneToOne
chicken
(Gallus gallus)
Aves YWHAE 35
  • 92.16 (n)
  • 100 (a)
YWHAE 36
  • 100 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.11270 35
ywhae 35
  • 87.84 (n)
  • 96.47 (a)
African clawed frog
(Xenopus laevis)
Amphibia ywhae-prov 35
zebrafish
(Danio rerio)
Actinopterygii Dr.1412 35
ywhae2 35
  • 80.26 (n)
  • 91.76 (a)
ywhae1 36
  • 96 (a)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.12083 35
fruit fly
(Drosophila melanogaster)
Insecta 14-3-3egr 37
  • 83 (a)
14-3-3zgr 37
  • 68 (a)
14-3-3epsilon 35
  • 71.16 (n)
  • 86.51 (a)
14-3-3epsilon 36
  • 82 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001151 35
  • 71.39 (n)
  • 87.01 (a)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AGR107C 35
  • 64.03 (n)
  • 78.33 (a)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F12100g 35
  • 64.99 (n)
  • 78.57 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes BMH1 35
  • 65.31 (n)
  • 75.51 (a)
BMH1 36
  • 69 (a)
ManyToMany
BMH2 36
  • 68 (a)
ManyToMany
BMH2 38
thale cress
(Arabidopsis thaliana)
eudicotyledons GRF3 35
  • 66.94 (n)
  • 77.24 (a)
soybean
(Glycine max)
eudicotyledons Gma.16576 35
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.2080 35
rice
(Oryza sativa)
Liliopsida Os.3440 35
Os03g0710800 35
  • 67.76 (n)
  • 77.78 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.4400 35
bread mold
(Neurospora crassa)
Ascomycetes NCU02806 35
  • 67.1 (n)
  • 79.13 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes rad25 35
  • 65.82 (n)
  • 74.89 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.5346 36
  • 75 (a)
ManyToMany
Species with no ortholog for YWHAE:
  • Actinobacteria (Mycobacterium tuberculosis)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for YWHAE Gene

ENSEMBL:
Gene Tree for YWHAE (if available)
TreeFam:
Gene Tree for YWHAE (if available)

Paralogs for YWHAE Gene

Paralogs for YWHAE Gene

genes like me logo Genes that share paralogs with YWHAE: view

Variants for YWHAE Gene

Structural Variations from Database of Genomic Variants (DGV) for YWHAE Gene

Variant ID Type Subtype PubMed ID
dgv3027n71 CNV Gain 21882294
nsv528360 CNV Gain 19592680
nsv827854 CNV Gain 20364138
esv2715460 CNV Deletion 23290073
esv2658878 CNV Deletion 23128226
esv2656849 CNV Deletion 23128226
esv2662454 CNV Deletion 23128226
nsv470567 CNV Gain 18288195

Variation tolerance for YWHAE Gene

Residual Variation Intolerance Score: 36.52% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.10; 2.17% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for YWHAE Gene

HapMap Linkage Disequilibrium report
YWHAE
Human Gene Mutation Database (HGMD)
YWHAE

PCR Panel Products

  • Copy Number PCR Panels: for YWHAE

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations from dbSNP and Humsavar for YWHAE Gene

Disorders for YWHAE Gene

MalaCards: The human disease database

(11) MalaCards diseases for YWHAE Gene - From: GeneTests, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
distal 17p13.3 microdeletion syndrome
  • distal del(17)(p13.3 )
17p13.3 microduplication syndrome
  • 17p13.3 duplication syndrome
miller-dieker syndrome
  • mdls
endometrial stromal sarcoma
  • endometrial stromal sarcoma, high grade
endometrial stromal nodule
- elite association
Search YWHAE in MalaCards View complete list of genes associated with diseases

Relevant External Links for YWHAE

Genetic Association Database (GAD)
YWHAE
Human Genome Epidemiology (HuGE) Navigator
YWHAE
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
YWHAE
genes like me logo Genes that share disorders with YWHAE: view

No data available for UniProtKB/Swiss-Prot and Genatlas for YWHAE Gene

Publications for YWHAE Gene

  1. Deletion of YWHAE in a patient with periventricular heterotopias and pronounced corpus callosum hypoplasia. (PMID: 19635726) Mignon-Ravix C. … Villard L. (J. Med. Genet. 2010) 23 67
  2. Further molecular and clinical delineation of co-locating 17p13.3 microdeletions and microduplications that show distinctive phenotypes. (PMID: 20452996) Bruno D.L. … Schoumans J. (J. Med. Genet. 2010) 23 67
  3. Increased LIS1 expression affects human and mouse brain development. (PMID: 19136950) Bi W. … Reiner O. (Nat. Genet. 2009) 23 67
  4. Microdeletions including YWHAE in the Miller-Dieker syndrome region on chromosome 17p13.3 result in facial dysmorphisms, growth restriction, and cognitive impairment. (PMID: 19584063) Nagamani S.C. … Stankiewicz P. (J. Med. Genet. 2009) 23 67
  5. Neuronal migration disorders: clinical, neuroradiologic and genetics aspects. (PMID: 19120042) Spalice A. … Iannetti P. (Acta Paediatr. 2009) 23 67

Products for YWHAE Gene

Sources for YWHAE Gene

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