YWHAE (tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein epsilon)
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Gene
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Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
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7531 |
Gene nameGene Name - the full gene name approved by the HGNC.
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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.
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YWHAE |
SynonymsGene synonyms aliases
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14-3-3E, HEL2, KCIP-1, MDCR, MDS |
ChromosomeChromosome number
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17 |
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
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17p13.3 |
SummarySummary of gene provided in NCBI Entrez Gene.
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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.
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Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
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GO ID |
Ontology |
Definition |
Evidence |
Reference |
GO:0000086 |
Process |
G2/M transition of mitotic cell cycle |
TAS |
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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 |
GO:0005515 |
Function |
Protein binding |
IPI |
1266503, 7644510, 10644344, 11504882, 11697890, 11784866, 12392720, 12917326, 14743216, 15722337, 16099986, 16227609, 16260042, 16376338, 16407301, 16511560, 16775625, 17043677, 17085597, 18045992, 18227151, 18356162, 18458160, 18573912, 19172738, 19640509, 20618440, 20642453, 20936 |
GO:0005634 |
Component |
Nucleus |
IDA |
12917326 |
GO:0005737 |
Component |
Cytoplasm |
IDA |
12917326 |
GO:0005739 |
Component |
Mitochondrion |
IEA |
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GO:0005829 |
Component |
Cytosol |
IDA |
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GO:0005829 |
Component |
Cytosol |
TAS |
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GO:0005871 |
Component |
Kinesin complex |
IEA |
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GO:0005886 |
Component |
Plasma membrane |
IDA |
18029012 |
GO:0005925 |
Component |
Focal adhesion |
HDA |
21423176 |
GO:0010389 |
Process |
Regulation of G2/M transition of mitotic cell cycle |
TAS |
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GO:0015459 |
Function |
Potassium channel regulator activity |
IDA |
11953308 |
GO:0016020 |
Component |
Membrane |
HDA |
19946888 |
GO:0016032 |
Process |
Viral process |
IEA |
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GO:0019899 |
Function |
Enzyme binding |
IPI |
10788521 |
GO:0021762 |
Process |
Substantia nigra development |
HEP |
22926577 |
GO:0023026 |
Function |
MHC class II protein complex binding |
HDA |
20458337 |
GO:0031625 |
Function |
Ubiquitin protein ligase binding |
IPI |
19725078 |
GO:0034504 |
Process |
Protein localization to nucleus |
IMP |
29769719 |
GO:0034605 |
Process |
Cellular response to heat |
IDA |
12917326 |
GO:0035329 |
Process |
Hippo signaling |
TAS |
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GO:0035556 |
Process |
Intracellular signal transduction |
TAS |
7644510 |
GO:0042470 |
Component |
Melanosome |
IEA |
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GO:0042802 |
Function |
Identical protein binding |
IPI |
17085597, 20936779 |
GO:0042826 |
Function |
Histone deacetylase binding |
IPI |
10869435 |
GO:0043154 |
Process |
Negative regulation of cysteine-type endopeptidase activity involved in apoptotic process |
TAS |
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GO:0044325 |
Function |
Ion channel binding |
IPI |
11953308, 18029012 |
GO:0045296 |
Function |
Cadherin binding |
HDA |
25468996 |
GO:0046827 |
Process |
Positive regulation of protein export from nucleus |
IDA |
12917326 |
GO:0046982 |
Function |
Protein heterodimerization activity |
IPI |
11953308 |
GO:0050815 |
Function |
Phosphoserine residue binding |
IPI |
10869435 |
GO:0051219 |
Function |
Phosphoprotein binding |
IPI |
10869435 |
GO:0051480 |
Process |
Regulation of cytosolic calcium ion concentration |
IDA |
18029012 |
GO:0060306 |
Process |
Regulation of membrane repolarization |
IDA |
11953308 |
GO:0061024 |
Process |
Membrane organization |
TAS |
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GO:0070062 |
Component |
Extracellular exosome |
HDA |
19056867, 19199708, 20458337, 23533145 |
GO:0086013 |
Process |
Membrane repolarization during cardiac muscle cell action potential |
IC |
11953308 |
GO:0086091 |
Process |
Regulation of heart rate by cardiac conduction |
IC |
11953308 |
GO:0090724 |
Component |
Central region of growth cone |
IEA |
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GO:0097110 |
Function |
Scaffold protein binding |
IPI |
10409742 |
GO:0097711 |
Process |
Ciliary basal body-plasma membrane docking |
TAS |
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GO:0098978 |
Component |
Glutamatergic synapse |
IEA |
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GO:0099072 |
Process |
Regulation of postsynaptic membrane neurotransmitter receptor levels |
IEA |
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GO:1900034 |
Process |
Regulation of cellular response to heat |
TAS |
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GO:1900740 |
Process |
Positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway |
TAS |
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GO:1901016 |
Process |
Regulation of potassium ion transmembrane transporter activity |
IDA |
11953308 |
GO:1901020 |
Process |
Negative regulation of calcium ion transmembrane transporter activity |
IDA |
18029012 |
GO:1902309 |
Process |
Negative regulation of peptidyl-serine dephosphorylation |
IDA |
11953308 |
GO:1905913 |
Process |
Negative regulation of calcium ion export across plasma membrane |
IDA |
18029012 |
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Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
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Protein
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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
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Family and domains |
Pfam
Accession |
ID |
Position in sequence |
Description |
Type |
PF00244 |
14-03-2003 |
10 → 232 |
14-3-3 protein |
Domain |
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Sequence |
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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.
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Associated diseases
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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 |
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Kidney disease |
Kidney Diseases |
rs74315342, rs749740335, rs757649673, rs112417755, rs35138315 |
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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 |
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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 |
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Unknown |
Disease name |
Disease term |
dbSNP ID |
References |
17p13.3 duplication syndrome |
Chromosome 17p13.3 Duplication Syndrome, 17p13.3 microduplication syndrome |
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21195811 |
Bipolar disorder |
Bipolar Disorder |
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23140658, 21184166 |
Camptodactyly of fingers |
Clinodactyly of the 5th finger |
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Cardiovascular abnormalities |
Cardiovascular Abnormalities |
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Cerebral cortical atrophy |
Cerebral cortical atrophy |
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Developmental dysplasia of the hip |
Congenital Dysplasia Of The Hip |
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Congenital epicanthus |
Congenital Epicanthus |
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Congenital hypoplasia of penis |
Congenital hypoplasia of penis |
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Congenital omphalocele |
Congenital omphalocele |
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Distal 17p13.3 microdeletion syndrome |
Distal 17p13.3 microdeletion syndrome |
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20599530 |
Endometrial stromal sarcoma |
Endometrial Stromal Sarcoma |
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25299308, 22223660 |
Frontal bossing |
Frontal bossing |
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High palate |
Byzanthine arch palate |
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Hypoplasia of corpus callosum |
Hypoplasia of corpus callosum |
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Microstomia |
Microstomia |
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Miller dieker syndrome |
Miller Dieker syndrome, Miller-Dieker syndrome |
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19584063 |
Sarcoma of kidney |
Clear cell sarcoma of kidney |
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22294382 |
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