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

Identity

Alias (NCBI)14-3-3E
HEL2
KCIP-1
MDCR
MDS
HGNC (Hugo) YWHAE
HGNC Alias symbFLJ45465
HGNC Alias name14-3-3 epsilon
HGNC Previous nametyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon polypeptide
LocusID (NCBI) 7531
Atlas_Id 42859
Location 17p13.3  [Link to chromosome band 17p13]
Location_base_pair Starts at 1344275 and ends at 1400222 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
ABR (17p13.3) / YWHAE (17p13.3)DAD1 (14q11.2) / YWHAE (17p13.3)FADS1 (11q12.2) / YWHAE (17p13.3)
HNRNPU (1q44) / YWHAE (17p13.3)KIF1B (1p36.22) / YWHAE (17p13.3)NUTM2A (10q23.2) / YWHAE (17p13.3)
NUTM2B (10q22.3) / YWHAE (17p13.3)PCBP2 (12q13.13) / YWHAE (17p13.3)VPS53 (17p13.3) / YWHAE (17p13.3)
YWHAE (17p13.3) / LIPF (10q23.31)YWHAE (17p13.3) / NUTM2A (10q23.2)YWHAE (17p13.3) / NUTM2A-AS1 (10q23.2)
YWHAE (17p13.3) / NUTM2B (10q22.3)YWHAE (17p13.3) / NUTM2E ()YWHAE (17p13.3) / PITPNA (17p13.3)
YWHAE (17p13.3) / ROS1 (6q22.1)YWHAE (17p13.3) / SLC43A2 (17p13.3)YWHAE 17p13.3 / NUTM2B 10q22.3
ABR 17p13.3 / YWHAE 17p13.3PCBP2 12q13.13 / YWHAE 17p13.3YWHAE 17p13.3 / SLC43A2 17p13.3

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 



External links

 

Nomenclature
HGNC (Hugo)YWHAE   12851
Cards
Entrez_Gene (NCBI)YWHAE    tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein epsilon
Aliases14-3-3E; HEL2; KCIP-1; MDCR; 
MDS
GeneCards (Weizmann)YWHAE
Ensembl hg19 (Hinxton)ENSG00000108953 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000108953 [Gene_View]  ENSG00000108953 [Sequence]  chr17:1344275-1400222 [Contig_View]  YWHAE [Vega]
ICGC DataPortalENSG00000108953
TCGA cBioPortalYWHAE
AceView (NCBI)YWHAE
Genatlas (Paris)YWHAE
SOURCE (Princeton)YWHAE
Genetics Home Reference (NIH)YWHAE
Genomic and cartography
GoldenPath hg38 (UCSC)YWHAE  -     chr17:1344275-1400222 -  17p13.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)YWHAE  -     17p13.3   [Description]    (hg19-Feb_2009)
GoldenPathYWHAE - 17p13.3 [CytoView hg19]  YWHAE - 17p13.3 [CytoView hg38]
ImmunoBaseENSG00000108953
Genome Data Viewer NCBIYWHAE [Mapview hg19]  
OMIM605066   
Gene and transcription
Genbank (Entrez)AK128785 AK295260 AK295997 AK296050 AK296555
RefSeq transcript (Entrez)NM_006761
Consensus coding sequences : CCDS (NCBI)YWHAE
Gene ExpressionYWHAE [ NCBI-GEO ]   YWHAE [ EBI - ARRAY_EXPRESS ]   YWHAE [ SEEK ]   YWHAE [ MEM ]
Gene Expression Viewer (FireBrowse)YWHAE [ Firebrowse - Broad ]
GenevisibleExpression of YWHAE in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)7531
GTEX Portal (Tissue expression)YWHAE
Human Protein AtlasENSG00000108953-YWHAE [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP62258   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP62258  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP62258
PhosPhoSitePlusP62258
Domaine pattern : Prosite (Expaxy)1433_1 (PS00796)    1433_2 (PS00797)   
Domains : Interpro (EBI)14-3-3    14-3-3_CS    14-3-3_dom_sf    14-3-3_domain   
Domain families : Pfam (Sanger)14-3-3 (PF00244)   
Domain families : Pfam (NCBI)pfam00244   
Domain families : Smart (EMBL)14_3_3 (SM00101)  
Conserved Domain (NCBI)YWHAE
PDB (RSDB)2BR9    3UAL    3UBW    6EIH   
PDB Europe2BR9    3UAL    3UBW    6EIH   
PDB (PDBSum)2BR9    3UAL    3UBW    6EIH   
PDB (IMB)2BR9    3UAL    3UBW    6EIH   
Structural Biology KnowledgeBase2BR9    3UAL    3UBW    6EIH   
SCOP (Structural Classification of Proteins)2BR9    3UAL    3UBW    6EIH   
CATH (Classification of proteins structures)2BR9    3UAL    3UBW    6EIH   
SuperfamilyP62258
AlphaFold pdb e-kbP62258   
Human Protein Atlas [tissue]ENSG00000108953-YWHAE [tissue]
HPRD05457
Protein Interaction databases
DIP (DOE-UCLA)P62258
IntAct (EBI)P62258
BioGRIDYWHAE
STRING (EMBL)YWHAE
ZODIACYWHAE
Ontologies - Pathways
QuickGOP62258
Ontology : AmiGOG2/M transition of mitotic cell cycle  MAPK cascade  regulation of heart rate by hormone  RNA binding  calcium channel regulator activity  protein binding  nucleus  cytoplasm  mitochondrion  cytosol  cytosol  kinesin complex  plasma membrane  focal adhesion  regulation of G2/M transition of mitotic cell cycle  potassium channel regulator activity  membrane  enzyme binding  substantia nigra development  MHC class II protein complex binding  ubiquitin protein ligase binding  protein localization to nucleus  cellular response to heat  hippo signaling  intracellular signal transduction  melanosome  identical protein binding  histone deacetylase binding  negative regulation of cysteine-type endopeptidase activity involved in apoptotic process  ion channel binding  cadherin binding  positive regulation of protein export from nucleus  protein heterodimerization activity  phosphoserine residue binding  phosphoprotein binding  regulation of cytosolic calcium ion concentration  regulation of membrane repolarization  extracellular exosome  membrane repolarization during cardiac muscle cell action potential  regulation of heart rate by cardiac conduction  central region of growth cone  scaffold protein binding  ciliary basal body-plasma membrane docking  glutamatergic synapse  regulation of postsynaptic membrane neurotransmitter receptor levels  regulation of cellular response to heat  positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway  regulation of potassium ion transmembrane transporter activity  negative regulation of calcium ion transmembrane transporter activity  negative regulation of peptidyl-serine dephosphorylation  negative regulation of calcium ion export across plasma membrane  
Ontology : EGO-EBIG2/M transition of mitotic cell cycle  MAPK cascade  regulation of heart rate by hormone  RNA binding  calcium channel regulator activity  protein binding  nucleus  cytoplasm  mitochondrion  cytosol  cytosol  kinesin complex  plasma membrane  focal adhesion  regulation of G2/M transition of mitotic cell cycle  potassium channel regulator activity  membrane  enzyme binding  substantia nigra development  MHC class II protein complex binding  ubiquitin protein ligase binding  protein localization to nucleus  cellular response to heat  hippo signaling  intracellular signal transduction  melanosome  identical protein binding  histone deacetylase binding  negative regulation of cysteine-type endopeptidase activity involved in apoptotic process  ion channel binding  cadherin binding  positive regulation of protein export from nucleus  protein heterodimerization activity  phosphoserine residue binding  phosphoprotein binding  regulation of cytosolic calcium ion concentration  regulation of membrane repolarization  extracellular exosome  membrane repolarization during cardiac muscle cell action potential  regulation of heart rate by cardiac conduction  central region of growth cone  scaffold protein binding  ciliary basal body-plasma membrane docking  glutamatergic synapse  regulation of postsynaptic membrane neurotransmitter receptor levels  regulation of cellular response to heat  positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway  regulation of potassium ion transmembrane transporter activity  negative regulation of calcium ion transmembrane transporter activity  negative regulation of peptidyl-serine dephosphorylation  negative regulation of calcium ion export across plasma membrane  
Pathways : KEGGCell cycle    Oocyte meiosis    PI3K-Akt signaling pathway    Hippo signaling pathway    Neurotrophin signaling pathway    Epstein-Barr virus infection    Viral carcinogenesis   
NDEx NetworkYWHAE
Atlas of Cancer Signalling NetworkYWHAE
Wikipedia pathwaysYWHAE
Orthology - Evolution
OrthoDB7531
GeneTree (enSembl)ENSG00000108953
Phylogenetic Trees/Animal Genes : TreeFamYWHAE
Homologs : HomoloGeneYWHAE
Homology/Alignments : Family Browser (UCSC)YWHAE
Gene fusions - Rearrangements
Fusion : MitelmanABR/YWHAE [17p13.3/17p13.3]  
Fusion : MitelmanPCBP2/YWHAE [12q13.13/17p13.3]  
Fusion : MitelmanYWHAE/NUTM2A [17p13.3/10q23.2]  
Fusion : MitelmanYWHAE/NUTM2B [17p13.3/10q22.3]  
Fusion : MitelmanYWHAE/NUTM2E [17p13.3/-]  
Fusion : MitelmanYWHAE/ROS1 [17p13.3/6q22.1]  
Fusion : MitelmanYWHAE/SLC43A2 [17p13.3/17p13.3]  
Fusion : QuiverYWHAE
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerYWHAE [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)YWHAE
dbVarYWHAE
ClinVarYWHAE
MonarchYWHAE
1000_GenomesYWHAE 
Exome Variant ServerYWHAE
GNOMAD BrowserENSG00000108953
Varsome BrowserYWHAE
ACMGYWHAE variants
VarityP62258
Genomic Variants (DGV)YWHAE [DGVbeta]
DECIPHERYWHAE [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisYWHAE 
Mutations
ICGC Data PortalYWHAE 
TCGA Data PortalYWHAE 
Broad Tumor PortalYWHAE
OASIS PortalYWHAE [ Somatic mutations - Copy number]
Cancer Gene: CensusYWHAE 
Somatic Mutations in Cancer : COSMICYWHAE  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DYWHAE
Mutations and Diseases : HGMDYWHAE
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaYWHAE
DgiDB (Drug Gene Interaction Database)YWHAE
DoCM (Curated mutations)YWHAE
CIViC (Clinical Interpretations of Variants in Cancer)YWHAE
Cancer3DYWHAE
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM605066   
Orphanet19865    18760    18852    4054    23715   
DisGeNETYWHAE
MedgenYWHAE
Genetic Testing Registry YWHAE
NextProtP62258 [Medical]
GENETestsYWHAE
Target ValidationYWHAE
Huge Navigator YWHAE [HugePedia]
ClinGenYWHAE (curated)
Clinical trials, drugs, therapy
MyCancerGenomeYWHAE
Protein Interactions : CTDYWHAE
Pharm GKB GenePA37440
PharosP62258
Clinical trialYWHAE
Miscellaneous
canSAR (ICR)YWHAE
HarmonizomeYWHAE
DataMed IndexYWHAE
Probes
Litterature
PubMed432 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXYWHAE
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Oct 4 15:38:42 CEST 2021

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