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

Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
7531
Gene nameGene Name - the full gene name approved by the HGNC.
Tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein epsilon
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
YWHAE
SynonymsGene synonyms aliases
14-3-3E, HEL2, KCIP-1, MDCR, MDS
ChromosomeChromosome number
17
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
17p13.3
SummarySummary of gene provided in NCBI Entrez 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 t
miRNAmiRNA information provided by mirtarbase database.
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 information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000086 Process G2/M transition of mitotic cell cycle TAS
GO:0000165 Process MAPK cascade IDA 12917326
GO:0003064 Process Regulation of heart rate by hormone NAS 11953308
GO:0003723 Function RNA binding HDA 22658674
GO:0005246 Function Calcium channel regulator activity IDA 18029012
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM
HGNC
e!Ensembl
Protein
UniProt ID 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
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
 
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
Causal
Disease name Disease term dbSNP ID References
Developmental delay Global developmental delay rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291, rs886041382, rs1057518991, rs1057518699, rs753254213, rs748294403, rs762552974, rs1135401795, rs1553121073, rs1553122926, rs1364690005, rs1554086554, rs1554210415, rs1554168326, rs1554776342, rs1553873247, rs1567860112, rs779009256, rs1557447255, rs1564568350, rs780011005, rs1597464953, rs1200336864, rs1569513017, rs1587459606, rs1570332505, rs748888652, rs1575155995, rs2087029320, rs1589669105, rs1601769604, rs1184981709, rs749201074
Kidney disease Kidney Diseases rs74315342, rs749740335, rs757649673, rs112417755, rs35138315
Lissencephaly Lissencephaly rs137853043, rs137853044, rs137853045, rs137853046, rs137853047, rs137853048, rs137853049, rs137853050, rs121434482, rs121434483, rs1567561137, rs121434485, rs121434486, rs121434487, rs121434489, rs121434490, rs104894779, rs104894780, rs104894781, rs122457137, rs104894782, rs56030372, rs104894786, rs113994203, rs113994200, rs113994198, rs113994202, rs281875328, rs281875329, rs387906840, rs756206942, rs749768828, rs397509412, rs398122369, rs587784484, rs587784483, rs587784482, rs587784481, rs587784497, rs587784495, rs587784494, rs587784492, rs587784488, rs587784486, rs587784485, rs587784491, rs576928842, rs587784265, rs587784260, rs587784262, rs587784272, rs587784285, rs369259961, rs587784250, rs587784252, rs587784253, rs587784257, rs587784256, rs587784258, rs587784259, rs587784261, rs587784263, rs587784264, rs587784266, rs587784267, rs587784268, rs587784269, rs200390886, rs587784270, rs587784271, rs587784273, rs587784274, rs587784275, rs587784276, rs587784277, rs587784278, rs587784281, rs587784279, rs587784280, rs587784282, rs587784284, rs587784286, rs587784287, rs587784289, rs587784291, rs587784290, rs587784292, rs587784293, rs587784294, rs587784235, rs587784236, rs587784237, rs587784238, rs587784239, rs587784240, rs587784241, rs587784242, rs587784244, rs587784243, rs587784245, rs587784247, rs587784248, rs587784249, rs587784251, rs587783592, rs587783590, rs587783589, rs587783568, rs587783558, rs104894784, rs587783534, rs587783519, rs794729199, rs797045005, rs797045177, rs797045178, rs797045061, rs797046071, rs797046073, rs797046072, rs797045529, rs797045866, rs797045857, rs797045858, rs797045859, rs797045861, rs797045863, rs797045864, rs797045865, rs797045867, rs797045868, rs797045869, rs797045870, rs797045871, rs797045872, rs1555527743, rs797045855, rs797045512, rs863224938, rs757725348, rs886039513, rs886041341, rs886043627, rs1057517696, rs1057517697, rs1057519417, rs754200057, rs1057517698, rs1057517843, rs1057520515, rs1064796460, rs1064793286, rs1064794568, rs1064796765, rs1064794223, rs1131691295, rs1555162507, rs1554126886, rs1555162294, rs1555162456, rs1456594953, rs1555526718, rs1555526733, rs1555527149, rs1556401744, rs1556401951, rs1555162325, rs1556405129, rs761786389, rs1555162323, rs1555526298, rs1555526309, rs1567559851, rs1565627513, rs1488808726, rs1557668270, rs1557670503, rs1557670515, rs1557670520, rs757604577, rs1565626928, rs1565627526, rs1565627727, rs1592260393, rs1565627777, rs1603423268, rs1592259391, rs2069271269, rs1942168488, rs1942171146, rs1942172759, rs1775537467, rs1774229245, rs1774228957, rs754052089, rs1774226763, rs1942166930, rs1942187200
Schizophrenia Schizophrenia rs74315508, rs74315509, rs13447324, rs1558507406, rs387906932, rs387906933, rs863223354, rs863223355, rs776061422, rs863223349, rs748809996, rs759748655, rs863223353, rs863223350, rs863223356, rs781821239, rs863223348, rs863223346, rs863223347, rs863223351, rs863223352, rs61734270, rs797045205, rs869312829, rs869312830, rs770913157, rs869312832, rs869312831, rs781720548, rs1262969313 24561237, 21853134, 28991256, 30285260, 21184166, 25105667
Unknown
Disease name Disease term dbSNP ID References
17p13.3 duplication syndrome Chromosome 17p13.3 Duplication Syndrome, 17p13.3 microduplication syndrome 21195811
Bipolar disorder Bipolar Disorder 23140658, 21184166
Camptodactyly of fingers Clinodactyly of the 5th finger
Cardiovascular abnormalities Cardiovascular Abnormalities

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