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YWHAE Gene

protein-coding   GIFtS: 74
GCID: GC17M001247

Tyrosine 3-Monooxygenase/Tryptophan 5-Monooxygenase Activation...

(Previous names: tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation...)
  See YWHAE-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Tyrosine 3-Monooxygenase/Tryptophan 5-Monooxygenase Activation Protein,
Epsilon1 2
     HEL22
Tyrosine 3-Monooxygenase/Tryptophan 5-Monooxygenase Activation Protein,
Epsilon Polypeptide1 2
     KCIP-12
14-3-3 Epsilon1 2     Epididymis Luminal Protein 22
14-3-3E2 3     Mitochondrial Import Stimulation Factor L Subunit2
MDCR2 5     Protein Kinase C Inhibitor Protein-12
MDS2 5     Tyrosine 3/Tryptophan 5 -Monooxygenase Activation Protein, Epsilon
Polypeptide2
14-3-3 Protein Epsilon2     

External Ids:    HGNC: 128511   Entrez Gene: 75312   Ensembl: ENSG000001089537   OMIM: 6050665   UniProtKB: P622583   

Export aliases for YWHAE gene to outside databases

Previous GC identifers: GC17P001321 GC17P001492 GC17M001198 GC17M001454 GC17M001194 GC17M001148


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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. GO annotations related to this gene include protein heterodimerization activity and protein domain specific binding. An important paralog of this gene is YWHAH.

UniProtKB/Swiss-Prot: 1433E_HUMAN, P62258
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

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/phospho-threonine binding proteins that have a diverse array of partners
including transcription factors, biosynthetic enzymes, cytoskeletal proteins, signalling molecules,
apoptosis factors and tumour suppressors. The 14.3.3 family consists of 7 isoforms; beta, gamma, epsilon,
sigma, zeta, tau and eta. 14.3.3 proteins are ubiquitously expressed and self assemble into homo- and
heterodimers, with the exception of 14.3.3sigma, which exclusively forms homodimers and is found in cells of
epithelial origin only. Each monomer contains an independent ligand-binding site, thus the 14.3.3 dimer can
interact with two target proteins simultaneously. 14.3.3 proteins are highly rigid structures and ligand
binding can induce conformational changes that alter the stability and/or catalytic activity of the ligand.
Furthermore, 14.3.3 protein binding can physically occlude sequence-specific or structural motifs on the
target that prevent molecular interactions and/or modulate the accessibility of a target protein to
modifying enzymes such as kinases, phosphatases and proteases. In addition, 14.3.3 proteins can act as a
scaffold molecule to anchor target proteins within close proximity of one another. 14.3.3 proteins represent
an integration point for proliferative, survival, apoptotic and stress signalling pathways. Members of the
14.3.3 protein family enhance the activity of many proteins with proliferative and/or survival functions,
such as Raf kinases, and antagonise the activity of proteins that promote cell death and senescence, such as
Bad, Bim and Bax. In contrast, 14.3.3sigma acts as a tumour suppressor and its expression is upregulated
coordinately with p53 and BRAC1. This isoform sequesters cdk1-cyclin B complexes in the cytoplasm, and thus
delays cell cycle progression. 14.3.3sigma is also a crucial regulator of translation during mitosis.
Because many 14.3.3 interactions are phosphorylation dependent, 14.3.3 proteins have been integrated into
the core regulatory pathways that are crucial for normal growth and development. 14.3.3 proteins are
directly involved in cellular processes such as cytokinesis, cell-contact inhibition, anchorage-independent
growth and cell adhesion, and it is these pathways that often become dysregulated in disease states such as
cancer.

Gene Wiki entry for YWHAE Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000017.10  NT_010718.17  NT_187613.1  NC_018928.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the YWHAE gene promoter:
         RFX1   C/EBPbeta   NF-kappaB   YY1   E47   NF-kappaB2   Hand1   LyF-1   Pax-4a   NF-kappaB1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): YWHAE promoter sequence
   Search Chromatin IP Primers for YWHAE

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat YWHAE


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 17p13.3   Ensembl cytogenetic band:  17p13.3   HGNC cytogenetic band: 17p13.3

YWHAE Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
YWHAE gene location

GeneLoc information about chromosome 17         GeneLoc Exon Structure

GeneLoc location for GC17M001247:  view genomic region     (about GC identifiers)

Start:
1,247,566 bp from pter      End:
1,303,672 bp from pter
Size:
56,107 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: 1433E_HUMAN, P62258 (See protein sequence)
Recommended Name: 14-3-3 protein epsilon  
Size: 255 amino acids; 29174 Da
Subunit: 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
3 PDB 3D structures from and Proteopedia for YWHAE:
2BR9 (3D)        3UAL (3D)        3UBW (3D)    
Secondary accessions: B3KY71 D3DTH5 P29360 P42655 Q4VJB6 Q53XZ5 Q63631 Q7M4R4
Alternative splicing: 2 isoforms:  P62258-1   P62258-2   (Unable to dimerize with YWHAZ)

Explore the universe of human proteins at neXtProt for YWHAE: NX_P62258

Explore proteomics data for YWHAE at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys12, Lys50, Lys106, Lys118, Lys123, Lys142, Lys196, Lys244
  • Modification sites at PhosphoSitePlus

  • See YWHAE Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_006752.1  
    ENSEMBL proteins: 
     ENSP00000264335   ENSP00000464883   ENSP00000461762   ENSP00000458386   ENSP00000466324  
     ENSP00000461766   ENSP00000460712  
    Reactome Protein details: P62258

    YWHAE Human Recombinant Protein Products:

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    Novus Biologicals YWHAE Proteins
    Novus Biologicals YWHAE Lysate
    Sino Biological Recombinant Protein for YWHAE
    Browse Sino Biological Cell Lysates
    ProSpec Recombinant Protein for YWHAE
    Browse Proteins at Cloud-Clone Corp.

     
    Search eBioscience for Proteins for YWHAE 

     
    antibodies-online proteins for YWHAE (14 products) 

     
    antibodies-online peptides for YWHAE

    YWHAE Antibody Products:

    EMD Millipore Mono- and Polyclonal Antibodies for the study of YWHAE
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    Novus Biologicals YWHAE Antibodies
    Abcam antibodies for YWHAE
    Browse Antibodies at Cloud-Clone Corp.
    ThermoFisher Antibody for YWHAE
    antibodies-online antibodies for YWHAE (90 products) 

    YWHAE Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    GenScript Custom Assay Services for YWHAE
    Browse Enzo Life Sciences for kits & assays
    Browse ELISAs at Cloud-Clone Corp.
    Browse CLIAs at Cloud-Clone Corp.
    Search eBioscience for ELISAs for YWHAE 
    antibodies-online kits for YWHAE (23 products) 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    3 InterPro protein domains:
     IPR023409 14-3-3_CS
     IPR023410 14-3-3_domain
     IPR000308 14-3-3

    Graphical View of Domain Structure for InterPro Entry P62258

    ProtoNet protein and cluster: P62258

    1 Blocks protein domain: IPB000308 14-3-3 protein

    UniProtKB/Swiss-Prot: 1433E_HUMAN, P62258
    Similarity: Belongs to the 14-3-3 family


    Find genes that share domains with YWHAE           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: 1433E_HUMAN, P62258
    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

         Genatlas biochemistry entry for YWHAE:
    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

         Gene Ontology (GO): Selected molecular function terms (see all 12):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI11504882
    GO:0015459potassium channel regulator activity IDA11953308
    GO:0019899enzyme binding IPI10788521
    GO:0019904protein domain specific binding IEA--
    GO:0023026MHC class II protein complex binding IDA--
         
    Find genes that share ontologies with YWHAE           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for YWHAE:
     Increased homologous recombina 

         7 MGI mutant phenotypes (inferred from 1 allele(MGI details for Ywhae):
     cardiovascular system  cellular  homeostasis/metabolism  mortality/aging  muscle 
     nervous system  reproductive system 

    Find genes that share phenotypes with YWHAE           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Ywhaetm1Awb for YWHAE

       genOway: Develop your customized and physiologically relevant rodent model for YWHAE

    miRNA
    Products:
        
    miRTarBase miRNAs that target YWHAE:
    hsa-mir-320a (MIRT044734), hsa-mir-30a-5p (MIRT028656), hsa-mir-877-3p (MIRT036929), hsa-mir-186-5p (MIRT045171), hsa-mir-484 (MIRT041963), hsa-mir-100-5p (MIRT048386), hsa-mir-30e-3p (MIRT044125), hsa-mir-26a-5p (MIRT050142), hsa-mir-30a-3p (MIRT049920), hsa-mir-92b-3p (MIRT040587), hsa-let-7b-5p (MIRT051964), hsa-let-7e-5p (MIRT051565), hsa-mir-221-3p (MIRT046839), hsa-mir-149-5p (MIRT045527)

    Block miRNA regulation of human, mouse, rat YWHAE using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate YWHAE (see all 35):
    hsa-miR-199a-3p hsa-miR-29a hsa-miR-10b* hsa-miR-3658 hsa-miR-155 hsa-miR-222* hsa-miR-409-3p hsa-miR-3065-3p
    SwitchGear 3'UTR luciferase reporter plasmidYWHAE 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for YWHAE
    Predesigned siRNA for gene silencing in human, mouse, rat YWHAE

    Gene Editing
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    Clone
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    OriGene clones in human, mouse for YWHAE (see all 7)
    OriGene ORF clones in mouse, rat for YWHAE
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: YWHAE (NM_006761)
    Sino Biological Human cDNA Clone for YWHAE
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for YWHAE
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat YWHAE
    Addgene plasmids for YWHAE 

    Cell Line
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    Browse ESI BIO Cell Lines and PureStem Progenitors for YWHAE 
    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for YWHAE


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    1433E_HUMAN, P62258: Cytoplasm (By similarity). Melanosome. Note=Identified by mass spectrometry in melanosome
    fractions from stage I to stage IV
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol4
    cytoskeleton2
    mitochondrion2
    nucleus2

    Gene Ontology (GO): Selected cellular component terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005739mitochondrion IEA--
    GO:0005829cytosol TAS--
    GO:0005871kinesin complex IEA--
    GO:0030659cytoplasmic vesicle membrane TAS--
    GO:0042470melanosome IEA--

    Find genes that share ontologies with YWHAE           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for YWHAE About   (see all 61)  
    See pathways by source

    SuperPathContained pathways About
    1Cell cycle
    Cell cycle0.59
    Cell cycle0.59
    2Development IGF 1 receptor signaling
    Development IGF RI signaling0.49
    Development IGF 1 receptor signaling0.48
    3Cell cycle Role of 14 3 3 proteins in cell cycle regulation
    Cell cycle Role of 14 3 3 proteins in cell cycle regulation0.45
    14-3-3 and Cell Cycle Regulation0.45
    4Development Dopamine D2 receptor transactivation of EGFR
    Apoptosis and survival BAD phosphorylation0.41
    BAD Phosphorylation0.41
    5Regulation of PLK1 Activity at G2/M Transition
    Recruitment of mitotic centrosome proteins and complexes0.86
    Regulation of PLK1 Activity at G2/M Transition0.77
    Loss of Nlp from mitotic centrosomes0.86
    G2/M Transition0.70
    Centrosome maturation0.86
    Mitotic G2-G2/M phases0.69
    Loss of proteins required for interphase microtubule organizationfrom the centrosome0.86


    Find genes that share SuperPaths with YWHAE           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 R&D Systems Pathway for YWHAE
        Apoptosis Signaling Pathways

    Selected Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for YWHAE (see all 19)
        14-3-3 Induced Apoptosis
    DHA Signaling
    PKA Signaling
    ERK5 Signaling
    BDNF Pathway

    4 Cell Signaling Technology (CST) Pathways for YWHAE
        MAP Kinase Signaling
    Apoptosis and Autophagy
    Cell Cycle / Checkpoint Control
    Tyrosine Kinases / Adaptors

    2 Tocris Bioscience Pathways for YWHAE
        Insulin Pathway
    Apoptosis Pathway

    5 GeneGo (Thomson Reuters) Pathways for YWHAE
        Apoptosis and survival BAD phosphorylation
    Development Role of HDAC and calcium/calmodulin-dependent kinase (CaMK) in control of skeletal myogenesis
    Development IGF-1 receptor signaling
    Immune response Function of MEF2 in T lymphocytes
    Cell cycle Role of 14-3-3 proteins in cell cycle regulation

    Selected BioSystems Pathways for YWHAE (see all 23)
        Myometrial Relaxation and Contraction Pathways
    Cell cycle
    SIDS Susceptibility Pathways
    Calcium Regulation in the Cardiac Cell
    Alpha6-Beta4 Integrin Signaling Pathway


    Selected Reactome Pathways for YWHAE (see all 10)
        Regulation of HSF1-mediated heat shock response
    Signaling by Hippo
    Activation of BAD and translocation to mitochondria
    Translocation of GLUT4 to the plasma membrane
    Recruitment of mitotic centrosome proteins and complexes


    Selected Kegg Pathways  (Kegg details for YWHAE) (see all 7):
        Cell cycle
    Oocyte meiosis
    PI3K-Akt signaling pathway
    Hippo signaling pathway
    Neurotrophin signaling pathway

        Pathway & Disease-focused RT2 Profiler PCR Array including YWHAE: 
              Neurotoxicity in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for YWHAE

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for YWHAE (P622581, 2, 3 ENSP000002643354) via UniProtKB, MINT, STRING, and/or I2D (see all 1338)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    HIST1H4AP628052, 3, ENSP000003529804MINT-7899812 MINT-7900157 I2D: score=2 STRING: ENSP00000352980
    HIST1H4BP628052, 3MINT-7899812 MINT-7900157 I2D: score=2 
    HIST1H4CP628052, 3MINT-7899812 MINT-7900157 I2D: score=2 
    HIST1H4DP628052, 3MINT-7899812 MINT-7900157 I2D: score=2 
    HIST1H4EP628052, 3MINT-7899812 MINT-7900157 I2D: score=2 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 25):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000086G2/M transition of mitotic cell cycle TAS--
    GO:0000278mitotic cell cycle TAS--
    GO:0001764neuron migration IEA--
    GO:0003064regulation of heart rate by hormone NAS11953308
    GO:0006605protein targeting IEA--

    Find genes that share ontologies with YWHAE           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Compounds for YWHAE available from Tocris Bioscience    About this table
    CompoundAction CAS #
    DifopeinHigh affinity inhibitor of 14.3.3 proteins; induces apoptosis[396834-58-5]
    R18Inhibitor of 14.3.3 proteins; induces apoptosis[211364-78-2]

    1 DrugBank Compound for YWHAE    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Fusicoccin-- 20108-30-9target--17139284 17016423 10592235



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for YWHAE gene: 
    NM_006761.4  

    Unigene Cluster for YWHAE:

    Tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon polypeptide
    Hs.513851  [show with all ESTs]
    Unigene Representative Sequence: NR_024058
    13 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000264335(uc002fsk.3 uc002fsj.3 uc010vqh.2 uc010vqi.2)
    ENST00000466227 ENST00000571732 ENST00000573026 ENST00000496706 ENST00000573196
    ENST00000575977 ENST00000469398 ENST00000486241 ENST00000489287 ENST00000576854
    ENST00000572108 ENST00000498643
    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate YWHAE (see all 35):
    hsa-miR-199a-3p hsa-miR-29a hsa-miR-10b* hsa-miR-3658 hsa-miR-155 hsa-miR-222* hsa-miR-409-3p hsa-miR-3065-3p
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat YWHAE
    Addgene plasmids for YWHAE 
    Primer
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    OriGene qPCR primer pairs and template standards for YWHAE
    OriGene qSTAR qPCR primer pairs in human, mouse for YWHAE
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat YWHAE
      QuantiTect SYBR Green Assays in human, mouse, rat YWHAE
      QuantiFast Probe-based Assays in human, mouse, rat YWHAE

    Additional mRNA sequence: 

    AK128785.1 AK295260.1 AK295997.1 AK296050.1 AK296555.1 AK316185.1 AK316201.1 AY883089.1 
    BC000179.2 BC001440.2 BT007161.1 NR_024058.1 U20972.1 U28936.1 U43399.1 U43430.1 
    U54778.1 

    Selected DOTS entries (see all 55):

    DT.95260129  DT.97862705  DT.100893739  DT.100800719  DT.100893703  DT.97861309  DT.99950231  DT.97862704 
    DT.95190057  DT.100893702  DT.95260196  DT.95260250  DT.95260150  DT.100893733  DT.100893742  DT.99978845 
    DT.454468  DT.120963813  DT.100893735  DT.100893724  DT.120963642  DT.92369109  DT.95260146  DT.100893740 

    Selected AceView cDNA sequences (see all 1840):

    CA445792 BU153829 BM786769 BQ428308 BU630715 AA658164 BE889401 AA716320 
    AU118828 BP349512 BP349433 BQ773238 BP374180 AA401509 BQ776158 BP338089 
    CF552340 BM454925 BM978476 N92778 CB115564 BQ774203 BM449638 BP373699 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for YWHAE (see all 6)    About this scheme

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


    ECgene alternative splicing isoforms for YWHAE

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

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    YWHAE expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GAATTAACAT
    YWHAE Expression
    About this image


    YWHAE expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 23) fully expand
     
     Brain (Nervous System)    fully expand to see all 10 entries
             Thalamus
     
     Neural Tube (Nervous System)    fully expand to see all 3 entries
             Telencephalon
     
     Ovary (Reproductive System)    fully expand to see all 2 entries
             Ovarian Mesenchymal Stroma Cells Ovary Interstitium
             Oviduct
     
     Thymus (Hematopoietic System)    fully expand to see all 2 entries
             Double Negative 2 Thymocytes Thymus
             Thymus
     
     Testis (Reproductive System)
             Leydig Cells Testis Interstitium
    YWHAE Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    YWHAE Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.513851
        Pathway & Disease-focused RT2 Profiler PCR Array including YWHAE: 
              Neurotoxicity in human mouse rat

    Primer
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    OriGene qPCR primer pairs and template standards for YWHAE
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for YWHAE

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for YWHAE gene from Selected species (see all 28)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ywhae1 , 5 tyrosine 3-monooxygenase/tryptophan 5-monooxygenase more1, 5 93.46(n)1
    100(a)1
      11 (45.92 cM)5
    226271  NM_009536.41  NP_033562.31 
     757328695 
    chicken
    (Gallus gallus)
    Aves YWHAE1 tyrosine 3-monooxygenase/tryptophan 5-monooxygenase more 92.16(n)
    100(a)
      417554  NM_001006219.1  NP_001006219.1 
    African clawed frog
    (Xenopus laevis)
    Amphibia ywhae-prov2 tyrosine 3-monooxygenase/tryptophan 5-monooxygenase more 89.81(n)    BC045025.1 
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.14122 Danio rerio mRNA similar to tyrosine 3-monooxygenase/tryptophan more 80.73(n)    BC045325.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta 14-3-3&egr;3
    14-3-3epsilon1
    DNA damage checkpoint
    diacylglycerol-activated/phospholipid
    more3
    14-3-3epsilon1
    83(a)
    (best of 2)3
    71.16(n)1
    86.51(a)1
      421861  NM_169798.21  NP_732311.11 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes BMH2(YDR099W)4
    BMH11
    14-3-3 protein, minor isoform; controls proteome at more4
    BMH11
    65.31(n)1
    75.51(a)1
      4(653607-654428)4
    8569241  NP_011104.31  8516764 
     NP_010384.14 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons GRF31 GRF3 66.94(n)
    77.24(a)
      833836  NM_123209.3  NP_568557.1 
    rice
    (Oryza sativa)
    Liliopsida Os.34402 Oryza sativa mRNA for 14-3-3-like protein (gf14-e gene) 75.02(n)    AJ276594.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for YWHAE gene
    YWHAH2  YWHAB2  YWHAQ2  YWHAG2  SFN2  YWHAZ2  
    9 SIMAP similar genes for YWHAE using alignment to 6 protein entries:     1433E_HUMAN (see all proteins):
    YWHAE/FAM22A fusion    YWHAE/FAM22B fusion    YWHAZ    YWHAQ    YWHAG    14-3-3 protein
    SFN    YWHAB    YWHAH

    Find genes that share paralogs with YWHAE           About GenesLikeMe


    Selected Pseudogenes.org Pseudogenes for YWHAE (see all 15)
    PGOHUM00000259158 PGOHUM00000259161 PGOHUM00000259165 PGOHUM00000259170 PGOHUM00000262354


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for YWHAE (see all 1486)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 17 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1158126851,2
    F--1247414(+) ATGGAT/ATACTA 2 -- ds50011Minor allele frequency- A:0.02WA 118
    rs1163013191,2
    F--1247415(+) TGGATT/CACTAA 2 -- ds50011Minor allele frequency- C:0.02WA 118
    rs2013267231,2
    --1247473(+) GAGGG-/CACACAG 2 -- ds50010--------
    rs1414574231,2
    --1247585(+) TTGTAC/TTTTAA 2 -- ds50010--------
    rs1902537591,2
    --1247621(+) GCCTGA/GTCTGG 2 -- ds50010--------
    rs1828838191,2
    --1247701(+) CATACA/GTCTTT 2 -- ds50010--------
    rs1472045301,2
    C--1247850(+) AATTT-/AGGGTTT 2 -- ut31 nc-transcript-variant0--------
    rs1449733351,2
    C--1247869(+) TAAGTG/TTAATG 2 -- ut31 nc-transcript-variant0--------
    rs1387959011,2
    --1247939(+) AGATAC/TCCAGT 2 -- ut31 nc-transcript-variant0--------
    rs152191,2
    C,F,H--1247962(-) GTAACT/GTGAAG 2 -- nc-transcript-variantut318Minor allele frequency- G:0.07MN EA NS NA 982

    HapMap Linkage Disequilibrium report for YWHAE (1247566 - 1303672 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 8 variations for YWHAE:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2656849CNV Deletion23128226
    esv2662454CNV Deletion23128226
    esv2715460CNV Deletion23290073
    esv2658878CNV Deletion23128226
    nsv470567CNV Gain18288195
    nsv827854CNV Gain20364138
    nsv528360CNV Gain19592680
    dgv3027n71CNV Gain21882294

    Human Gene Mutation Database (HGMD): YWHAE
    Site Specific Mutation Identification with PCR Assays
    1 Copy Number PCR Panel containing YWHAE:
    Intellectual Disability
    SeqTarget long-range PCR primers for resequencing YWHAE
    DNA2.0 Custom Variant and Variant Library Synthesis for YWHAE

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

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    OMIM gene information: 605066    OMIM disorders: --

    5 diseases for YWHAE:    
    About MalaCards
    distal 17p13.3 microdeletion syndrome    17p13.3 microduplication syndrome    miller-dieker syndrome    periventricular heterotopia
    lung cancer

    1 disease from the University of Copenhagen DISEASES database for YWHAE:
    Lissencephaly

    Find genes that share disorders with YWHAE           About GenesLikeMe

    Genetic Association Database (GAD): YWHAE
    Human Genome Epidemiology (HuGE) Navigator: YWHAE (3 documents)

    Export disorders for YWHAE gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

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    PubMed articles for YWHAE gene, integrated from 10 sources (see all 255):
    (articles sorted by number of sources associating them with YWHAE)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Centrosome-related genes, genetic variation, and risk of breast cancer. (PubMed id 20508983)1, 4 Olson J.E....Couch F.J. (Breast Cancer Res. Treat. 2011)
    2. Functional identification of a novel 14-3-3 epsilon splicing variant suggests dimerization is not necessary for 14-3-3 epsilon to inhibit UV-induced apoptosis. (PubMed id 20417184)1, 2 Han D.... Yu L. (Biochem. Biophys. Res. Commun. 2010)
    3. Lysine acetylation targets protein complexes and co-regulates major cellular functions. (PubMed id 19608861)1, 2 Choudhary C.... Mann M. (Science 2009)
    4. Phosphorylation-dependent binding of 14-3-3 terminates signalling by the Gab2 docking protein. (PubMed id 19172738)1, 2 Brummer T.... Daly R.J. (EMBO J. 2008)
    5. Proteomic and bioinformatic characterization of the biogenesis and function of melanosomes. (PubMed id 17081065)1, 2 Chi A....Hunt D.F. (J. Proteome Res. 2006)
    6. Protein kinase A phosphorylates and regulates dimerization of 14-3-3 epsilon. (PubMed id 16376338)1, 2 Gu Y.-M.... Lee K.-Y. (FEBS Lett. 2006)
    7. Association of 14-3-3 epsilon gene haplotype with completed suicide in Japanese. (PubMed id 15838597)1, 4 Yanagi M....Maeda K. (J. Hum. Genet. 2005)
    8. Phosphorylation of grb10 regulates its interaction with 14-3-3. (PubMed id 15722337)1, 2 Urschel S.... Duyster J. (J. Biol. Chem. 2005)
    9. JNK phosphorylation of 14-3-3 proteins regulates nuclear targeting of c-Abl in the apoptotic response to DNA damage. (PubMed id 15696159)1, 2 Yoshida K.... Miki Y. (Nat. Cell Biol. 2005)
    10. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section

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    Entrez Gene: 7531 HGNC: 12851 AceView: YWHAE Ensembl:ENSG00000108953 euGenes: HUgn7531
    ECgene: YWHAE Kegg: 7531 H-InvDB: YWHAE

    (According to HUGE)
    About This Section

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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for YWHAE Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for YWHAE Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

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    Patent Information for YWHAE gene:
    Search GeneIP for patents involving YWHAE

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, eBioscience, antibodies-online, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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