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Aliases for YWHAE Gene

Aliases for YWHAE Gene

  • Tyrosine 3-Monooxygenase/Tryptophan 5-Monooxygenase Activation Protein Epsilon 2 3 5
  • 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
  • 14-3-3 Protein Epsilon 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 Endometrial Stromal Sarcoma and Kidney Clear Cell Sarcoma. Among its related pathways are DNA Damage and Regulation of PLK1 Activity at G2/M Transition. 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 (By similarity). Positively regulates phosphorylated protein HSF1 nuclear export to the cytoplasm (PubMed:12917326).

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

Additional gene information for YWHAE Gene

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

Genomics for YWHAE Gene

Regulatory Elements for YWHAE Gene

Enhancers for YWHAE Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH17H001484 1.8 FANTOM5 ENCODE dbSUPER 11.1 -88.3 -88278 9 HDGF PKNOX1 ARID4B SIN3A DMAP1 ZNF2 ZBTB7B YY1 ZNF143 ZNF207 PITPNA YWHAE INPP5K MYO1C TUSC5 RPS4XP17 TIMM22 GC17M001482
GH17H001267 1.9 FANTOM5 Ensembl ENCODE dbSUPER 10.5 +132.1 132120 1 PKNOX1 ARID4B SIN3A FEZF1 ZNF2 YY1 GTF3C2 ZNF121 GLIS2 ELK1 GEMIN4 PRPF8 WDR81 ENSG00000262920 ENSG00000262228 YWHAE SMYD4 RPA1 ABR PITPNA
GH17H001374 1 ENCODE dbSUPER 19.1 +24.3 24331 3 PKNOX1 FEZF1 ZNF384 EBF1 ZNF121 ZNF366 ZNF600 ATF7 RUNX3 IKZF2 YWHAE INPP5K MYO1C PITPNA TUSC5 BHLHA9 CRK GC17P001386 ENSG00000280408
GH17H001554 1.6 FANTOM5 Ensembl ENCODE dbSUPER 10.6 -156.4 -156390 3 MAX BATF ZNF316 ZBTB48 POLR2A EED PRDM10 ETV6 RUNX3 MAFK PITPNA INPP5K PITPNA-AS1 YWHAE SLC43A2 SCARF1 CRK WDR81 PIR42053
GH17H001122 1.4 Ensembl ENCODE dbSUPER 10.6 +276.8 276816 2 HDGF FOXA2 RB1 ARID4B KLF17 ZNF2 RAD21 ZNF121 ZNF143 ZNF391 ENSG00000235361 ABR GEMIN4 WDR81 PRPF8 YWHAE HIC1 SMYD4 ENSG00000278794 LOC105371480
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around YWHAE on UCSC Golden Path with GeneCards custom track

Promoters for YWHAE Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000090069 978 2801 HDGF PKNOX1 ARID4B SIN3A FEZF1 DMAP1 ZNF2 ZBTB7B YY1 ZNF766

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

Genes around YWHAE on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
YWHAE Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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 (PubMed:17085597). Heterodimerizes with YWHAZ (PubMed:16376338). Interacts with PKA-phosphorylated AANAT (PubMed:11427721). Interacts with ABL1 (phosphorylated form); the interaction retains it in the cytoplasm (PubMed:15696159). Interacts with ARHGEF28 (By similarity). Interacts with BEX3 (By similarity). Weakly interacts with CDKN1B (PubMed:12042314). Interacts with the Thr-369 phosphorylated form of DAPK2 (PubMed:26047703). Interacts with DENND1A (PubMed:26055712). Interacts with GAB2 (PubMed:19172738). Interacts with phosphorylated GRB10 (PubMed:15722337). Interacts with KSR1 (PubMed:10409742). Interacts with NDEL1 (By similarity). Interacts with PI4KB, TBC1D22A and TBC1D22B (PubMed:23572552). Interacts with the phosphorylated (by AKT1) form of SRPK2 (PubMed:19592491). Interacts with TIAM2. Interacts with the Ser-1134 and Ser-1161 phosphorylated form of SOS1 (By similarity). Interacts with ZFP36 (via phosphorylated form) (By similarity). Interacts with SLITRK1 (PubMed:19640509). Interacts with HSF1 (via phosphorylated form); this interaction promotes HSF1 sequestration in the cytoplasm in a ERK-dependent manner (PubMed:12917326). Interacts with RIPOR2 isoform 2 (PubMed:25588844).
    • (Microbial infection) Interacts with HCV core protein.

    Three dimensional structures from OCA and Proteopedia for YWHAE Gene

    Alternative splice isoforms for YWHAE Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for YWHAE Gene

Post-translational modifications for YWHAE Gene

  • Ubiquitination at Lys12, Lys106, Lys118, isoforms=2123, isoforms=2142, isoforms=2196, and Lys244
  • Modification sites at PhosphoSitePlus

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

Gene Families for YWHAE Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for YWHAE Gene

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 (By similarity). Positively regulates phosphorylated protein HSF1 nuclear export to the cytoplasm (PubMed:12917326).

Phenotypes From GWAS Catalog for YWHAE Gene

Gene Ontology (GO) - Molecular Function for YWHAE Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003723 RNA binding IDA 22658674
GO:0005246 calcium channel regulator activity IDA 18029012
GO:0005515 protein binding IPI 1266503
GO:0015459 potassium channel regulator activity IDA 11953308
GO:0017112 Rab guanyl-nucleotide exchange factor activity TAS --
genes like me logo Genes that share ontologies with YWHAE: view
genes like me logo Genes that share phenotypes with YWHAE: view

Human Phenotype Ontology for YWHAE Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for YWHAE Gene

MGI Knock Outs for YWHAE:

Animal Model Products

CRISPR Products

miRNA for YWHAE Gene

miRTarBase miRNAs that target YWHAE

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for YWHAE
  • Applied Biological Materials Clones for YWHAE
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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

Nucleus. Cytoplasm. Melanosome. Note=Identified by mass spectrometry in melanosome fractions from stage I to stage IV. {ECO:0000269 PubMed:12042314, ECO:0000269 PubMed:17081065}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for YWHAE gene
Compartment Confidence
extracellular 5
nucleus 5
cytosol 5
cytoskeleton 3
mitochondrion 3
plasma membrane 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for YWHAE Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA,IDA 12917326
GO:0005737 cytoplasm IEA,IDA 12917326
GO:0005739 mitochondrion IEA --
GO:0005829 cytosol TAS --
GO:0005871 kinesin complex IEA --
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

Pathways by source for YWHAE Gene

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:0000165 MAPK cascade IDA 12917326
GO:0001764 neuron migration IEA --
GO:0003064 regulation of heart rate by hormone NAS 11953308
GO:0006605 protein targeting IEA --
genes like me logo Genes that share ontologies with YWHAE: view

Drugs & Compounds for YWHAE Gene

(3) Drugs for YWHAE Gene - From: DrugBank, ApexBio, and Tocris

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Fusicoccin Experimental Pharma Target 0
Phenethyl isothiocyanate Investigational Pharma Target 12
R18 Pharma 14.3.3 proteins Antagonist, Inhibitor of 14.3.3 proteins 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Difopein
396834-58-5

(2) Tocris Compounds for YWHAE Gene

Compound Action Cas Number
Difopein High affinity inhibitor of 14.3.3 proteins; induces apoptosis 396834-58-5
R18 Inhibitor of 14.3.3 proteins 211364-78-2

(1) ApexBio Compounds for YWHAE Gene

Compound Action Cas Number
R18 14.3.3 proteins Antagonist 211364-78-2
genes like me logo Genes that share compounds with YWHAE: view

Drug Products

Transcripts for YWHAE Gene

Unigene Clusters for YWHAE Gene

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

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for YWHAE
  • Applied Biological Materials Clones for YWHAE
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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 from GTEx, Illumina, BioGPS, and CGAP SAGE for YWHAE Gene

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



Protein tissue co-expression partners for YWHAE Gene

NURSA nuclear receptor signaling pathways regulating expression of YWHAE Gene:

YWHAE

SOURCE GeneReport for Unigene cluster for YWHAE Gene:

Hs.513851

Evidence on tissue expression from TISSUES for YWHAE Gene

  • Nervous system(5)
  • Liver(4.9)
  • Heart(4.8)
  • Blood(4.6)
  • Lung(4.5)
  • Intestine(4.2)
  • Kidney(4.2)
  • Eye(4)
  • Skin(3.6)
  • Muscle(3.1)
  • Stomach(3.1)
  • Pancreas(3)
  • Bone(2.7)
  • Spleen(2.6)
  • Adrenal gland(2.3)
  • Thyroid gland(2.3)
  • Gall bladder(2)
  • Lymph node(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for YWHAE Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Organs:
Head and neck:
  • brain
  • chin
  • cranial nerve
  • ear
  • epiglottis
  • eye
  • eyelid
  • face
  • forehead
  • head
  • jaw
  • lip
  • mandible
  • maxilla
  • mouth
  • neck
  • nose
  • outer ear
  • pharynx
  • skull
  • tooth
Thorax:
  • bronchus
  • heart
  • lung
  • trachea
Abdomen:
  • abdominal wall
  • biliary tract
  • duodenum
  • intestine
  • kidney
  • large intestine
  • liver
  • pancreas
  • small intestine
  • stomach
Pelvis:
  • pelvis
  • placenta
  • testicle
  • uterus
Limb:
  • digit
  • finger
  • foot
  • hand
  • lower limb
  • toe
  • upper limb
General:
  • blood
  • blood vessel
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal column
genes like me logo Genes that share expression patterns with YWHAE: view

Primer 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
dog
(Canis familiaris)
Mammalia -- 34
  • 100 (a)
ManyToMany
YWHAE 33
  • 97.52 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia YWHAE 34
  • 100 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia YWHAE 33 34
  • 99.87 (n)
cow
(Bos Taurus)
Mammalia YWHAE 33 34
  • 97.78 (n)
mouse
(Mus musculus)
Mammalia Ywhae 33 16 34
  • 93.46 (n)
rat
(Rattus norvegicus)
Mammalia Ywhae 33
  • 92.68 (n)
oppossum
(Monodelphis domestica)
Mammalia YWHAE 34
  • 92 (a)
OneToOne
chicken
(Gallus gallus)
Aves YWHAE 33 34
  • 92.16 (n)
tropical clawed frog
(Silurana tropicalis)
Amphibia ywhae 33
  • 87.84 (n)
Str.11270 33
African clawed frog
(Xenopus laevis)
Amphibia ywhae-prov 33
zebrafish
(Danio rerio)
Actinopterygii ywhae1 34
  • 96 (a)
OneToOne
ywhae2 33
  • 80.26 (n)
Dr.1412 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.12083 33
fruit fly
(Drosophila melanogaster)
Insecta 14-3-3egr 35
  • 83 (a)
14-3-3epsilon 33 34
  • 71.16 (n)
14-3-3zgr 35
  • 68 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001151 33
  • 71.39 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes BMH2 34 36
  • 68 (a)
ManyToMany
BMH1 33 34
  • 65.31 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F12100g 33
  • 64.99 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AGR107C 33
  • 64.03 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons GRF3 33
  • 66.94 (n)
soybean
(Glycine max)
eudicotyledons Gma.16576 33
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.2080 33
rice
(Oryza sativa)
Liliopsida Os03g0710800 33
  • 67.76 (n)
Os.3440 33
sea squirt
(Ciona savignyi)
Ascidiacea CSA.5346 34
  • 75 (a)
ManyToMany
bread mold
(Neurospora crassa)
Ascomycetes NCU02806 33
  • 67.1 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes rad25 33
  • 65.82 (n)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.4400 33
Species where no ortholog for YWHAE was found in the sources mined by GeneCards:
  • 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

Variants for YWHAE Gene

Sequence variations from dbSNP and Humsavar for YWHAE Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type
rs34137556 Likely benign 1,361,991(+) ATTAA(C/T)TTTAG nc-transcript-variant, reference, synonymous-codon
rs3752827 Benign 1,362,031(+) TTTTT(A/T)AAATC intron-variant
rs1000007499 -- 1,349,854(+) CGTGA(C/T)CCGCC intron-variant
rs1000009360 -- 1,394,354(+) ACACC(C/T)GTAAT intron-variant
rs1000029832 -- 1,397,279(+) ACTTG(C/T)TTAAT intron-variant

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

Variant ID Type Subtype PubMed ID
dgv3081n100 CNV gain 25217958
esv2656849 CNV deletion 23128226
esv2658878 CNV deletion 23128226
esv2662454 CNV deletion 23128226
esv2715460 CNV deletion 23290073
esv3582469 CNV loss 25503493
esv3639680 CNV gain 21293372
esv3639681 CNV loss 21293372
esv3639682 CNV loss 21293372
nsv1057782 CNV gain 25217958
nsv1131291 CNV deletion 24896259
nsv470567 CNV gain 18288195
nsv528360 CNV gain 19592680
nsv574209 CNV loss 21841781
nsv574210 CNV loss 21841781
nsv827854 CNV gain 20364138
nsv960039 CNV duplication 23825009
nsv962244 CNV duplication 23825009

Variation tolerance for YWHAE Gene

Residual Variation Intolerance Score: 36.5% 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

SNPedia medical, phenotypic, and genealogical associations of SNPs for
YWHAE

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for YWHAE Gene

Disorders for YWHAE Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
endometrial stromal sarcoma
  • endometrial stromal sarcoma, high grade
kidney clear cell sarcoma
  • childhood kidney clear cell sarcoma
miller-dieker lissencephaly syndrome
  • mds
distal 17p13.3 microdeletion syndrome
  • distal del(17)(p13.3 )
chromosome 17p13.3, centromeric, duplication syndrome
  • chromosome 17p13.3 duplication syndrome
- elite association - COSMIC cancer census association via MalaCards
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. Front-signal-dependent accumulation of the RHOA inhibitor FAM65B at leading edges polarizes neutrophils. (PMID: 25588844) Gao K … Wu D (Journal of cell science 2015) 3 4 60
  2. Suppression of death-associated protein kinase 2 by interaction with 14-3-3 proteins. (PMID: 26047703) Yuasa K … Tsuji A (Biochemical and biophysical research communications 2015) 3 4 60
  3. ACBD3 interaction with TBC1 domain 22 protein is differentially affected by enteroviral and kobuviral 3A protein binding. (PMID: 23572552) Greninger AL … DeRisi JL (mBio 2013) 3 4 60
  4. Centrosome-related genes, genetic variation, and risk of breast cancer. (PMID: 20508983) Olson JE … Couch FJ (Breast cancer research and treatment 2011) 3 45 60
  5. Further molecular and clinical delineation of co-locating 17p13.3 microdeletions and microduplications that show distinctive phenotypes. (PMID: 20452996) Bruno DL … Schoumans J (Journal of medical genetics 2010) 3 22 60

Products for YWHAE Gene

  • Addgene plasmids for YWHAE

Sources for YWHAE Gene

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