Gene Report

Basic information

Related studies

Functional annotation

Related other genetic factors

Overlap with SZ and MDD

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Basic Info

Approved Symbol	YWHAE
Symbol Alias	FLJ45465
Approved Name	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon
Previous Name	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon polypeptide
Name Alias	14-3-3 epsilon
Location	17p13.3
Position	chr17:1344272-1400378, -1
External Links	HGNC: 12851 Entrez Gene: 7531 Ensembl: ENSG00000108953 UCSC: uc002fsj.3
No. of Studies	1 (Positive: 0; Negative: 1; trend: 0)
Overlap with SZ?	YES
Overlap with MDD?	YES

Gene related studies (count: 1)

Reference	Tested Markers	Statistical Values/Author Comments	Result Category	Comment on Study
Liu, J,2011(b)	SNP: rs11655548, rs12452627, rs1532976, rs1873827, rs2131431, rs28365859, rs34041110, rs3752826, rs7224258, rs7225165, rs8064578	Considering the size of our sample sets (power > 90%), our results suggest that the YWHAE does not play a major role in schizophrenia, major depressive disorder or bipolar disorder in the Han Chinese population.	Negative	Comment on Study

Gene functional annotation

Gene related GO terms (count: 46)

GO terms by PBA (count: 2)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0016020	membrane	cellular component	IDA[19946888]	137
GO:0019904	protein domain specific binding	molecular function	IEA	24

GO terms by database search (count: 44)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0030424	axon	cellular component	IEA	39
GO:0034605	cellular response to heat	biological process	TAS	11
GO:0044325	ion channel binding	molecular function	IPI[11953308]	14
GO:0005515	protein binding	molecular function	IPI[10644344]	563
GO:0000278	mitotic cell cycle	biological process	TAS	33
GO:1902309	negative regulation of peptidyl-serine dephosphorylation	biological process	IDA[11953308]	1
GO:0000086	G2/M transition of mitotic cell cycle	biological process	TAS	15
GO:0006996	organelle organization	biological process	TAS	23
GO:0043281	regulation of cysteine-type endopeptidase activity involved in apoptotic process	biological process	TAS	2
GO:0015459	potassium channel regulator activity	molecular function	IDA[11953308]	11
GO:0048011	neurotrophin TRK receptor signaling pathway	biological process	TAS	33
GO:0001764	neuron migration	biological process	IEA	18
GO:0097193	intrinsic apoptotic signaling pathway	biological process	TAS	8
GO:0021762	substantia nigra development	biological process	IEP[22926577]	7
GO:0050815	phosphoserine binding	molecular function	IPI[10869435]	1
GO:1901016	regulation of potassium ion transmembrane transporter activity	biological process	IDA[11953308]	2
GO:0042470	melanosome	cellular component	IEA	15
GO:1900740	positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway	biological process	TAS	6
GO:0006605	protein targeting	biological process	IEA	5
GO:0044822	poly(A) RNA binding	molecular function	IDA[22658674]	44
GO:0005871	kinesin complex	cellular component	IEA	6
GO:0070062	extracellular vesicular exosome	cellular component	IDA[19056867]	176
GO:0030659	cytoplasmic vesicle membrane	cellular component	TAS	12
GO:0006915	apoptotic process	biological process	TAS	39
GO:0097190	apoptotic signaling pathway	biological process	TAS	13
GO:0035329	hippo signaling	biological process	TAS	4
GO:0003064	regulation of heart rate by hormone	biological process	NAS[11953308]	1
GO:0005829	cytosol	cellular component	TAS	223
GO:0060306	regulation of membrane repolarization	biological process	IDA[11953308]	1
GO:0005739	mitochondrion	cellular component	IEA	75
GO:0046982	protein heterodimerization activity	molecular function	IPI[11953308]	42
GO:0042826	histone deacetylase binding	molecular function	IPI[10869435]	13
GO:0023026	MHC class II protein complex binding	molecular function	IDA[20458337]	2
GO:0051219	phosphoprotein binding	molecular function	IPI[10869435]	3
GO:0005925	focal adhesion	cellular component	IDA[21423176]	32
GO:0021766	hippocampus development	biological process	IEA	7
GO:0086013	membrane repolarization during cardiac muscle cell action potential	biological process	IC[11953308]	2
GO:0016032	viral process	biological process	IEA	26
GO:1900034	regulation of cellular response to heat	biological process	TAS	10
GO:0019899	enzyme binding	molecular function	IPI[10788521]	34
GO:0035556	intracellular signal transduction	biological process	TAS[7644510]	38
GO:0021987	cerebral cortex development	biological process	IEA	9
GO:0086091	regulation of heart rate by cardiac conduction	biological process	IC[11953308]	6
GO:0061024	membrane organization	biological process	TAS	14

Gene related KEGG pathways (count: 1)

KEGG pathways by PBA (count: 1)

ID	Name	No. of Genes in BDgene	Brief Description
hsa04110	Cell cycle	8

KEGG pathways by database search (count: 0)

Gene related BioCarta pathways (count: 0)

Gene related interactors from protein-protein interactions data in HPRD (count: 64)

Gene	Interactor	Interactor in BDgene?	Experiment Type	PMID
YWHAE	TSC2	NO	in vitro	12438239
YWHAE	RPGR	NO	in vivo	16043481
YWHAE	MAP3K10	NO	yeast 2-hybrid	9427749
YWHAE	ING1	NO	in vitro	16581770
YWHAE	HSF1	NO	in vitro	15364926
YWHAE	TAF7	NO	in vitro	10449590
YWHAE	MAP3K5	NO	yeast 2-hybrid	15023544
YWHAE	CDK16	NO	in vivo	12154078
YWHAE	HDAC5	NO	in vitro;in vivo;yeast 2-hybrid	10869435 , 11114197
YWHAE	SNCA	NO	in vivo	10407019
YWHAE	CDK11B	NO	in vitro;in vivo	15883043
YWHAE	CALM1	NO	in vitro;yeast 2-hybrid	10088721
YWHAE	GRAP2	NO	yeast 2-hybrid	16189514
YWHAE	SLC8A3	NO	in vitro	16679322
YWHAE	IGF1R	NO	in vitro;yeast 2-hybrid	9111084
YWHAE	MAP3K3	NO	in vitro;yeast 2-hybrid	9452471 , 16407301
YWHAE	YWHAG	NO	in vitro	12507503
YWHAE	CDC25A	NO	in vitro;in vivo;yeast 2-hybrid	7644510 , 14559997
YWHAE	RAF1	NO	in vitro;in vivo	7644510 , 8702721 , 15459208
YWHAE	KCNK3	NO	in vivo;yeast 2-hybrid	12433946
YWHAE	IRS1	NO	in vivo	9312143 , 9111084
YWHAE	KRT18	NO	in vivo	9524113
YWHAE	RIN1	NO	in vitro;in vivo	11784866 , 9144171
YWHAE	TNFAIP3	NO	in vivo	8702721
YWHAE	KIF1C	NO	in vivo	10559254
YWHAE	BAD	NO	yeast 2-hybrid	9369453
YWHAE	TSC1	NO	in vitro	12176984
YWHAE	SLC8A2	NO	in vivo;yeast 2-hybrid	16679322
YWHAE	VIM	NO	in vitro;in vivo	10887173
YWHAE	GPRIN2	NO	yeast 2-hybrid	16189514
YWHAE	YWHAZ	NO	in vivo	16376338
YWHAE	CDK14	NO	yeast 2-hybrid	16775625
YWHAE	YWHAB	NO	in vivo	12507503
YWHAE	ABL1	NO	in vivo	15696159
YWHAE	SRC	NO	in vivo	8702721
YWHAE	IRS2	NO	in vivo	9312143
YWHAE	CASP3	NO	in vitro;yeast 2-hybrid	12657644
YWHAE	AKAP13	NO	in vitro;in vivo	15229649
YWHAE	RGS3	NO	in vivo	11985497
YWHAE	ARHGEF2	NO	in vivo	14970201
YWHAE	SLC8A1	NO	in vitro	16679322
YWHAE	RASGRF1	NO	in vitro;in vivo;yeast 2-hybrid	11533041
YWHAE	NGFRAP1	NO	in vitro;in vivo;yeast 2-hybrid	11278287
YWHAE	TGFB1	NO	in vivo	11172812
YWHAE	MST1R	YES	in vitro;in vivo;yeast 2-hybrid	12919677
YWHAE	MDM4	NO	in vivo	16511560 , 16511572
YWHAE	KCNK15	NO	in vivo;yeast 2-hybrid	12433946
YWHAE	MAP3K2	NO	in vivo	9452471
YWHAE	TBP	YES	in vitro	10449590
YWHAE	CDKN1B	NO	in vivo	12042314
YWHAE	KCNH2	NO	in vitro;in vivo;yeast 2-hybrid	11953308
YWHAE	TFDP2	NO	in vitro;in vivo;yeast 2-hybrid	16482218
YWHAE	TAZ	NO	in vivo	11118213
YWHAE	REM1	NO	in vitro;in vivo	10441394
YWHAE	HDAC4	NO	in vitro;in vivo;yeast 2-hybrid	11486037 , 11114197
YWHAE	WWTR1	NO	in vivo	11118213
YWHAE	TOP2A	NO	in vivo	10788521
YWHAE	GTF2B	NO	in vitro	10449590
YWHAE	SORBS2	YES	yeast 2-hybrid	16189514
YWHAE	PRKCG	NO	in vitro;in vivo	15459208
YWHAE	NDEL1	NO	in vitro;in vivo;yeast 2-hybrid	12796778
YWHAE	KCNK9	NO	in vivo;yeast 2-hybrid	12433946
YWHAE	PAPOLA	NO	in vitro;in vivo;yeast 2-hybrid	14517258
YWHAE	DYRK1A	NO	in vitro;in vivo	15369779

Related other genetic factors

Gene related SNPs (count: 33)

Literature-origin SNPs (count: 11)

rs_ID	Location	Functional Annotation	No. of Studies (Positive/Negative/Trend)
rs11655548	chrCHR_HSCHR17_2_CTG2:1283483 - 1283483(1)	intron_variant; NMD_transcript_variant; non_coding_transcript_variant	1(0/1/0)
rs34041110	chrCHR_HSCHR17_2_CTG2:1246377 - 1246377(1)	downstream_gene_variant	1(0/1/0)
rs1532976	chrCHR_HSCHR17_2_CTG2:1308313 - 1308313(1)		1(0/1/0)
rs2131431	chrCHR_HSCHR17_2_CTG2:1294380 - 1294380(1)	intron_variant; NMD_transcript_variant; non_coding_transcript_variant	1(0/1/0)
rs12452627	chrCHR_HSCHR17_2_CTG2:1301957 - 1301957(1)	intron_variant; NMD_transcript_variant; non_coding_transcript_exon_variant; non_coding_transcript_variant	1(0/1/0)
rs7225165	chrCHR_HSCHR17_2_CTG2:1309335 - 1309335(1)		1(0/1/0)
rs8064578	chrCHR_HSCHR17_2_CTG2:1254360 - 1254360(1)	intron_variant; NMD_transcript_variant; upstream_gene_variant	1(0/1/0)
rs1873827	chrCHR_HSCHR17_2_CTG2:1300425 - 1300425(1)	downstream_gene_variant; intron_variant; NMD_transcript_variant; non_coding_transcript_variant	1(1/0/0)
rs3752826	chrCHR_HSCHR17_2_CTG2:1264549 - 1264549(1)	downstream_gene_variant; intron_variant; NMD_transcript_variant; non_coding_transcript_exon_variant; non_coding_transcript_variant; upstream_gene_variant	1(0/1/0)
rs28365859	chrCHR_HSCHR17_2_CTG2:1303263 - 1303263(1)	upstream_gene_variant	1(0/1/0)
rs7224258	chrCHR_HSCHR17_2_CTG2:1254987 - 1254987(1)	intron_variant; NMD_transcript_variant; non_coding_transcript_exon_variant; non_coding_transcript_variant	1(0/1/0)

LD-proxies (count: 22)

rs_ID	Location	Functional Annotation
rs12453498	chrCHR_HSCHR17_2_CTG2:1299394 - 1299394(1)	downstream_gene_variant; intron_variant; NMD_transcript_variant; non_coding_transcript_variant
rs4790350	chrCHR_HSCHR17_2_CTG2:1295488 - 1295488(1)	intron_variant; NMD_transcript_variant; non_coding_transcript_variant
rs4790347	chrCHR_HSCHR17_2_CTG2:1288440 - 1288440(1)	intron_variant; NMD_transcript_variant; non_coding_transcript_variant
rs4790342	chrCHR_HSCHR17_2_CTG2:1283400 - 1283400(1)	intron_variant; NMD_transcript_variant; non_coding_transcript_variant
rs4790084	chrCHR_HSCHR17_2_CTG2:1282464 - 1282464(1)	intron_variant; NMD_transcript_variant; non_coding_transcript_variant
rs11650689	chrCHR_HSCHR17_2_CTG2:1244477 - 1244477(1)	downstream_gene_variant
rs10521112	chrCHR_HSCHR17_2_CTG2:1281002 - 1281002(1)	intron_variant; NMD_transcript_variant; non_coding_transcript_variant
rs16945571	chrCHR_HSCHR17_2_CTG2:1278908 - 1278908(1)	intron_variant; NMD_transcript_variant; non_coding_transcript_variant
rs4790082	chrCHR_HSCHR17_2_CTG2:1278185 - 1278185(1)	intron_variant; NMD_transcript_variant; non_coding_transcript_variant
rs7214541	chrCHR_HSCHR17_2_CTG2:1272807 - 1272807(1)	intron_variant; NMD_transcript_variant; non_coding_transcript_variant; upstream_gene_variant
rs7210877	chrCHR_HSCHR17_2_CTG2:1266957 - 1266957(1)	downstream_gene_variant; intron_variant; NMD_transcript_variant; non_coding_transcript_variant; upstream_gene_variant
rs9748126	chrCHR_HSCHR17_2_CTG2:1273848 - 1273848(1)	intron_variant; NMD_transcript_variant; non_coding_transcript_variant
rs8067801	chrCHR_HSCHR17_2_CTG2:1279974 - 1279974(1)	intron_variant; NMD_transcript_variant; non_coding_transcript_variant
rs7219635	chrCHR_HSCHR17_2_CTG2:1269912 - 1269912(1)	intron_variant; NMD_transcript_variant; non_coding_transcript_variant; upstream_gene_variant
rs9895157	chrCHR_HSCHR17_2_CTG2:1271720 - 1271720(1)	intron_variant; NMD_transcript_variant; non_coding_transcript_variant; upstream_gene_variant
rs7207904	chrCHR_HSCHR17_2_CTG2:1267342 - 1267342(1)	downstream_gene_variant; intron_variant; NMD_transcript_variant; non_coding_transcript_variant; upstream_gene_variant
rs9912147	chrCHR_HSCHR17_2_CTG2:1283807 - 1283807(1)	intron_variant; NMD_transcript_variant; non_coding_transcript_variant
rs2131432	chrCHR_HSCHR17_2_CTG2:1296957 - 1296957(1)	downstream_gene_variant; intron_variant; NMD_transcript_variant; non_coding_transcript_variant
rs7212894	chrCHR_HSCHR17_2_CTG2:1268054 - 1268054(1)	intron_variant; NMD_transcript_variant; non_coding_transcript_variant; upstream_gene_variant
rs7212572	chrCHR_HSCHR17_2_CTG2:1269865 - 1269865(1)	intron_variant; NMD_transcript_variant; non_coding_transcript_variant; upstream_gene_variant
rs7213824	chrCHR_HSCHR17_2_CTG2:1249262 - 1249262(1)	intron_variant; NMD_transcript_variant
rs11655176	chrCHR_HSCHR17_2_CTG2:1263683 - 1263683(1)	downstream_gene_variant; intron_variant; NMD_transcript_variant

Gene related CNVs (count: 0)

Gene related other variants (count: 0)

Gene related regions (count: 2)

Region Name	Position	No. of Studies (Positive/Negative/Trend)
17p13	chr17:0-10800000	3 (0/3/0)
Chr 17	chr17:0-83257441	3 (0/3/0)

Overlap with schizophrenia (SZ) and major depressive disorder (MDD)

Gene relationship with SZ

Overlap with SZ from cross-disorder studies (count: 1)

Reference	Description	Result Category
21184166	Considering the size of our sample sets (power > 90%), our results suggest that the YWHAE does not play a major role in schizophrenia, major depressive disorder or bipolar disorder in the Han Chinese population.	Negative

Overlap with SZ from candidate gene intersection analysis (count: 2)

Reference	ID in SZGene	Result Category
18658164	127	Positive
16054338	127	Negative

Gene relationship with MDD

Overlap with MDD from cross-disorder studies (count: 1)

Reference	Description	Category in MDD
21184166	Considering the size of our sample sets (power > 90%), our results suggest that the YWHAE does not play a major role in schizophrenia, major depressive disorder or bipolar disorder in the Han Chinese population.	Negative

Overlap with MDD from candidate gene intersection analysis (count: 1)

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Region: chr17:1344272..1400378 View in gBrowse