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	YWHAH
Previous Symbol	YWHA1
Approved Name	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, eta
Previous Name	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, eta polypeptide
Name Alias	14-3-3 eta
Location	22q12.1-q13.1
Position	chr22:31944461-31957603, 1
External Links	HGNC: 12853 Entrez Gene: 7533 Ensembl: ENSG00000128245 UCSC: uc003alz.3
No. of Studies	3 (Positive: 2; Negative: 0; trend: 1)
Overlap with SZ?	YES
Overlap with MDD?	NO

Gene related studies (count: 3)

Reference	Tested Markers	Statistical Values/Author Comments	Result Category	Comment on Study
Grover, D.,2009	SNP: rs2246704, rs2853884, rs3747158, rs4820059, rs933226 Other variant: YWHAH_5'UTR_(GCCTGCA)n	Our study adds to the evidence that YWHAH is implicated in both BP and schizophrenia.	Positive	Comment on Study
Pers, T. H.,2011	SNP: rs1049583, rs2858753, rs3761432, rs929036 Haplotype: rs3761432 - rs929036(C-G), rs3761432 - rs929036(G-A), rs3761432 - rs929036(G-G), rs3761432 - rs929036(T-G)	Our findings showed an association between BD and YWHAH variants.	Positive	Comment on Study
Fallin, M. D.,2005		8 SNP typed, Median D'=1, Median r<sup>2</sup> =0.35, 2 LD blocks, 1.23 block coverage, there exists SNP or haplotype nominal P-value > 0.01 and <0.05 in BP.. This gene is suggestive to BP , not suggestive to SZ/SZA.	Trend	Comment on Study

Gene functional annotation

Gene related GO terms (count: 30)

GO terms by PBA (count: 4)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0005159	insulin-like growth factor receptor binding	molecular function	ISS	5
GO:0019904	protein domain specific binding	molecular function	ISS	24
GO:0003779	actin binding	molecular function	IEA	24
GO:0005886	plasma membrane	cellular component	IDA[16728661]	360

GO terms by database search (count: 26)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0005737	cytoplasm	cellular component	ISS	322
GO:0061024	membrane organization	biological process	TAS	14
GO:0005515	protein binding	molecular function	IPI[10713667]	563
GO:0086010	membrane depolarization during action potential	biological process	IDA[16728661]	9
GO:0006915	apoptotic process	biological process	TAS	39
GO:0048167	regulation of synaptic plasticity	biological process	ISS	9
GO:0097193	intrinsic apoptotic signaling pathway	biological process	TAS	8
GO:0005829	cytosol	cellular component	TAS	223
GO:0045893	positive regulation of transcription, DNA-templated	biological process	IDA[15790729]	58
GO:0014704	intercalated disc	cellular component	IC[16728661]	8
GO:2000649	regulation of sodium ion transmembrane transporter activity	biological process	IDA[16728661]	2
GO:0030659	cytoplasmic vesicle membrane	cellular component	TAS	12
GO:0006713	glucocorticoid catabolic process	biological process	IDA[15790729]	1
GO:0050774	negative regulation of dendrite morphogenesis	biological process	ISS	3
GO:0019899	enzyme binding	molecular function	IPI[17255105]	34
GO:0002028	regulation of sodium ion transport	biological process	IDA[16728661]	9
GO:0046982	protein heterodimerization activity	molecular function	IPI[11953308]	42
GO:0017080	sodium channel regulator activity	molecular function	IDA[16728661]	4
GO:1900740	positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway	biological process	TAS	6
GO:0042921	glucocorticoid receptor signaling pathway	biological process	IDA[15790729]	2
GO:0044325	ion channel binding	molecular function	IPI[11953308]	14
GO:0035259	glucocorticoid receptor binding	molecular function	IPI[9079630]	3
GO:0021762	substantia nigra development	biological process	IEP[22926577]	7
GO:0070062	extracellular vesicular exosome	cellular component	IDA[19056867]	176
GO:0045664	regulation of neuron differentiation	biological process	ISS	3
GO:0006886	intracellular protein transport	biological process	ISS	10

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: 11)

BioCarta pathways by PBA (count: 5)

ID	Name	No. of Genes in BDgene
cdc25Pathway	cdc25 and chk1 Regulatory Pathway in response to DNA damage	2
pgc1aPathway	Regulation of PGC-1a	4
g2Pathway	Cell Cycle: G2/M Checkpoint	2
rbPathway	RB Tumor Suppressor/Checkpoint Signaling in response to DNA damage	2
badPathway	Regulation of BAD phosphorylation	9

BioCarta pathways by database search (count: 6)

ID	Name	No. of Genes in BDgene
igf1rPathway	Multiple antiapoptotic pathways from IGF-1R signaling lead to BAD phosphorylation	5
hdacPathway	Control of skeletal myogenesis by HDAC & calcium/calmodulin-dependent kinase (CaMK)	10
achPathway	Role of nicotinic acetylcholine receptors in the regulation of apoptosis	6
plk3Pathway	Regulation of cell cycle progression by Plk3	1
aktPathway	AKT Signaling Pathway	6
MITRPathway	Signal Dependent Regulation of Myogenesis by Corepressor MITR	2

Gene related interactors from protein-protein interactions data in HPRD (count: 56)

Gene	Interactor	Interactor in BDgene?	Experiment Type	PMID
YWHAH	NRIP1	YES	in vitro	11266503
YWHAH	CHRNA4	YES	in vivo	11352901
YWHAH	PARD3	NO	in vivo	14676191
YWHAH	THRA	YES	in vitro	11266503
YWHAH	CDK16	NO	in vitro;in vivo	9799109
YWHAH	RIMS2	NO	in vitro	12871946
YWHAH	KCNH2	NO	in vitro;in vivo	11953308
YWHAH	TPH1	YES	in vitro	7499362
YWHAH	NR3C1	YES	in vitro;yeast 2-hybrid	9079630 , 12730237 , 11266503
YWHAH	MST1R	YES	in vitro;in vivo;yeast 2-hybrid	12919677
YWHAH	KRT18	NO	in vivo	9524113
YWHAH	BCR	YES	in vitro	16045749
YWHAH	ABL1	NO	in vivo	15696159
YWHAH	MED1	NO	in vitro	11266503
YWHAH	NCOA3	NO	in vitro	11266503
YWHAH	PRKCI	NO	in vivo	14676191
YWHAH	PTH1R	NO	in vitro;in vivo	12595070
YWHAH	EPB41L3	NO	in vitro;in vivo;yeast 2-hybrid	11996670 , 15116094
YWHAH	ZFP36	NO	in vitro;in vivo;yeast 2-hybrid	11886850
YWHAH	PARD6B	YES	in vivo	14676191
YWHAH	TSC2	NO	in vitro	12438239
YWHAH	ESR1	YES	in vitro	11266503
YWHAH	MDM4	NO	in vivo	16511560
YWHAH	SRC	NO	in vivo	8702721
YWHAH	PARD6A	NO	in vivo	14676191
YWHAH	PDPK1	NO	in vitro;in vivo	12177059
YWHAH	MARK4	NO	in vivo	14676191
YWHAH	TLX2	NO	in vitro;in vivo	9738002
YWHAH	EPB41L2	NO	in vitro	15116094
YWHAH	RPH3A	NO	in vitro	12871946
YWHAH	CDC25C	NO	in vitro;in vivo	9278512 , 10330186
YWHAH	NCOA2	NO	in vitro	11266503
YWHAH	GREM1	NO	in vitro;yeast 2-hybrid	16545136
YWHAH	ING1	NO	in vitro	16581770
YWHAH	TNFAIP3	NO	in vitro;in vivo;yeast 2-hybrid	8702721 , 9299557
YWHAH	RIMS1	NO	in vitro;in vivo;yeast 2-hybrid	12871946
YWHAH	REM1	NO	in vitro;in vivo	10441394
YWHAH	KCNK9	NO	in vivo;yeast 2-hybrid	12433946
YWHAH	TSC1	NO	in vitro	12176984
YWHAH	BAD	NO	yeast 2-hybrid	9369453
YWHAH	CREBBP	YES	in vitro	11266503
YWHAH	MAP3K3	NO	in vitro	14743216
YWHAH	NCOA1	NO	in vitro	11266503
YWHAH	RAF1	NO	in vivo	8702721
YWHAH	SNCA	NO	in vivo	16096643
YWHAH	KCNK15	NO	in vivo;yeast 2-hybrid	12433946
YWHAH	BRAF	NO	yeast 2-hybrid	8668348
YWHAH	CDKN1B	NO	in vitro;in vivo	12042314
YWHAH	YWHAE	YES	in vivo	7615088 , 12507503
YWHAH	KCNK3	NO	in vivo;yeast 2-hybrid	12433946
YWHAH	MAP3K5	NO	yeast 2-hybrid	15023544
YWHAH	NEK1	NO	yeast 2-hybrid	14690447
YWHAH	YWHAG	NO	in vivo	15324660
YWHAH	ESR2	NO	in vitro	11266503
YWHAH	KLC3	NO	in vitro;in vivo	11969417
YWHAH	PARK2	YES	in vivo	16096643

Related other genetic factors

Gene related SNPs (count: 21)

Literature-origin SNPs (count: 9)

rs_ID	Location	Functional Annotation	No. of Studies (Positive/Negative/Trend)
rs3761432	chr22:31942200 - 31942200(1)	intron_variant; non_coding_transcript_variant; upstream_gene_variant	1(1/0/0)
rs929036	chr22:31943227 - 31943227(1)	intron_variant; non_coding_transcript_variant; upstream_gene_variant	1(1/0/0)
rs2246704	chr22:31953076 - 31953076(1)	intron_variant; NMD_transcript_variant; non_coding_transcript_variant	1(1/0/0)
rs4820059	chr22:31950481 - 31950481(1)	intron_variant; NMD_transcript_variant; non_coding_transcript_variant; upstream_gene_variant	1(1/0/0)
rs3747158	chr22:31946989 - 31946989(1)	intron_variant; NMD_transcript_variant; non_coding_transcript_variant; upstream_gene_variant	1(1/0/0)
rs933226	chr22:31947860 - 31947860(1)	intron_variant; NMD_transcript_variant; non_coding_transcript_variant; upstream_gene_variant	1(0/1/0)
rs2853884	chr22:31952326 - 31952326(1)	intron_variant; NMD_transcript_variant; non_coding_transcript_variant	1(0/1/0)
rs2858753	chr22:31955118 - 31955118(1)	intron_variant; NMD_transcript_variant; non_coding_transcript_variant	1(1/0/0)
rs1049583	chr22:31956804 - 31956804(1)	3_prime_UTR_variant; downstream_gene_variant; non_coding_transcript_exon_variant; non_coding_transcript_variant	1(1/0/0)

LD-proxies (count: 12)

rs_ID	Location	Functional Annotation
rs3827334	chr22:31942019 - 31942019(1)	intron_variant; non_coding_transcript_variant; upstream_gene_variant
rs738181	chr22:31962601 - 31962601(1)	downstream_gene_variant; upstream_gene_variant
rs2853887	chr22:31957907 - 31957907(1)	downstream_gene_variant
rs2858750	chr22:31952252 - 31952252(1)	intron_variant; NMD_transcript_variant; non_coding_transcript_variant
rs7291050	chr22:31945971 - 31945971(1)	intron_variant; NMD_transcript_variant; non_coding_transcript_variant; upstream_gene_variant
rs8141011	chr22:31945804 - 31945804(1)	intron_variant; NMD_transcript_variant; non_coding_transcript_variant; upstream_gene_variant
rs9621371	chr22:31960163 - 31960163(1)	downstream_gene_variant; upstream_gene_variant
rs9609394	chr22:31958634 - 31958634(1)	downstream_gene_variant; upstream_gene_variant
rs7290696	chr22:31945698 - 31945698(1)	intron_variant; NMD_transcript_variant; non_coding_transcript_variant; upstream_gene_variant
rs5998196	chr22:31959468 - 31959468(1)	downstream_gene_variant; upstream_gene_variant
rs2301415	chr22:31945683 - 31945683(1)	intron_variant; NMD_transcript_variant; non_coding_transcript_variant; splice_region_variant; upstream_gene_variant
rs7364274	chr22:31944393 - 31944393(1)	intron_variant; non_coding_transcript_variant; upstream_gene_variant

Gene related CNVs (count: 0)

Gene related other variants (count: 1)

Variant Name	Variant Type	Location in Gene	No. of Studies (Positive/Negative/Trend)
YWHAH_5'UTR_(GCCTGCA)n	duplication	5'UTR	1 (1/0/0)

Gene related regions (count: 3)

Region Name	Position	No. of Studies (Positive/Negative/Trend)
22q12.3-13.32	chr22:31800000-49100000	1 (0/1/0)
Chr 22	chr22:0-50818468	2 (0/1/1)
22q12.3-q13.33	chr22:31800000-50818468	1 (1/0/0)

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

Gene relationship with SZ

Overlap with SZ from cross-disorder studies (count: 2)

Reference	Description	Result Category
19160447	Our study adds to the evidence that YWHAH is implicated in both BP and schizophrenia.	Positive
16380905	This gene is suggestive to BP , not suggestive to SZ/SZA.	Negative

Overlap with SZ from candidate gene intersection analysis (count: 6)

Reference	ID in SZGene	Result Category
16054338	477	Negative
11121172	477	Positive
9564686	477	Negative
16380905	477	Negative
15814194	477	Negative
10206237	477	Positive

Gene relationship with MDD

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Region: chr22:31944461..31957603 View in gBrowse