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	NOTCH4
Previous Symbol	INT3
Approved Name	notch 4
Previous Name	Notch (Drosophila) homolog 4, "Notch homolog 4 (Drosophila)"
Location	6p21.3
Position	chr6:32194843-32224067, -1
External Links	HGNC: 7884 Entrez Gene: 4855 Ensembl: ENSG00000204301 UCSC: uc003obb.3
No. of Studies	2 (Positive: 0; Negative: 2; trend: 0)
Overlap with SZ?	YES
Overlap with MDD?	NO

Gene related studies (count: 2)

Reference	Tested Markers	Statistical Values/Author Comments	Result Category	Comment on Study
Swift-Scanlan, T., 2002	Other variant: NOTCH4_(CTG)n	We failed to find any association between the (CTG)n NOTCH4 polymorphism and either the bipolar or the psychotic bipolar phenotype in our 65 pedigrees.	Negative	Comment on Study
Prathikanti, S.,2004	Other variant: NOTCH4_(CTG)n, NOTCH4_promoter_A>G	These results do not support an association between genetic variation near NOTCH4 and BPAD in this sample.	Negative	Comment on Study

Gene functional annotation

Gene related GO terms (count: 29)

GO terms by PBA (count: 6)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0005509	calcium ion binding	molecular function	TAS[11823422]	50
GO:0030154	cell differentiation	biological process	NAS[11823422]	31
GO:0005634	nucleus	cellular component	TAS[8681805]	283
GO:0005887	integral component of plasma membrane	cellular component	TAS[11823422]	158
GO:0005886	plasma membrane	cellular component	TAS	360
GO:0004872	receptor activity	molecular function	TAS[11823422]	19

GO terms by database search (count: 23)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0010467	gene expression	biological process	TAS	41
GO:0005789	endoplasmic reticulum membrane	cellular component	TAS	52
GO:0007220	Notch receptor processing	biological process	TAS	2
GO:0007221	positive regulation of transcription of Notch receptor target	biological process	TAS[18663143]	1
GO:0030097	hemopoiesis	biological process	TAS[11532344]	7
GO:0005576	extracellular region	cellular component	TAS	97
GO:0009790	embryo development	biological process	ISS	2
GO:0005654	nucleoplasm	cellular component	TAS	163
GO:0046982	protein heterodimerization activity	molecular function	TAS[8681805]	42
GO:0001886	endothelial cell morphogenesis	biological process	IEA	2
GO:0005515	protein binding	molecular function	IPI[11101851]	563
GO:0045602	negative regulation of endothelial cell differentiation	biological process	ISS	1
GO:0007219	Notch signaling pathway	biological process	TAS	14
GO:0009986	cell surface	cellular component	IDA[11823422]	40
GO:0001709	cell fate determination	biological process	TAS[11823422]	1
GO:0030879	mammary gland development	biological process	IDA[9576833]	5
GO:0006367	transcription initiation from RNA polymerase II promoter	biological process	TAS	20
GO:0045893	positive regulation of transcription, DNA-templated	biological process	TAS[11823422]	58
GO:0045596	negative regulation of cell differentiation	biological process	NAS[11823422]	2
GO:0000139	Golgi membrane	cellular component	TAS	36
GO:0001763	morphogenesis of a branching structure	biological process	ISS	2
GO:0001569	patterning of blood vessels	biological process	ISS	3
GO:0005829	cytosol	cellular component	TAS	223

Gene related KEGG pathways (count: 1)

KEGG pathways by PBA (count: 1)

ID	Name	No. of Genes in BDgene	Brief Description
hsa04330	Notch signaling pathway	7

KEGG pathways by database search (count: 0)

Gene related BioCarta pathways (count: 0)

Gene related interactors from protein-protein interactions data in HPRD (count: 11)

Gene	Interactor	Interactor in BDgene?	Experiment Type	PMID
NOTCH4	PSEN2	NO	in vivo	11518718
NOTCH4	FBXW7	NO	in vivo	11585921
NOTCH4	PSEN1	NO	in vivo	11518718
NOTCH4	MAML3	NO	in vivo	12370315
NOTCH4	DLL4	NO	in vitro;in vivo	12814948
NOTCH4	MAML2	NO	in vivo	12370315
NOTCH4	RBPJ	NO	in vivo	11518718
NOTCH4	SMAD3	NO	in vitro;in vivo	16007227
NOTCH4	SMAD4	NO	in vitro;in vivo	16007227
NOTCH4	MAML1	NO	in vitro;in vivo;yeast 2-hybrid	11101851 , 11585921
NOTCH4	SMAD2	NO	in vitro;in vivo	16007227

Related other genetic factors

Gene related SNPs (count: 2)

Literature-origin SNPs (count: 2)

rs_ID	Location	Functional Annotation	No. of Studies (Positive/Negative/Trend)
rs3131296	chrCHR_HSCHR6_MHC_SSTO_CTG1:32212897 - 32212897(1)	intron_variant; upstream_gene_variant	2(1/1/0)
rs3134942	chrCHR_HSCHR6_MHC_SSTO_CTG1:32208676 - 32208676(1)	non_coding_transcript_exon_variant; non_coding_transcript_variant; synonymous_variant; upstream_gene_variant	1(1/0/0)

LD-proxies (count: 0)

Gene related CNVs (count: 0)

Gene related other variants (count: 2)

Variant Name	Variant Type	Location in Gene	No. of Studies (Positive/Negative/Trend)
NOTCH4_promoter_A>G	point mutation	promoter	1 (0/1/0)
NOTCH4_(CTG)n	microsatellite		2 (1/1/0)

Gene related regions (count: 3)

Region Name	Position	No. of Studies (Positive/Negative/Trend)
Chr 6	chr6:0-170805979	3 (0/3/0)
6p21	chr6:30500000-46200000	1 (0/1/0)
6p23-p21.1	chr6:13400000-46200000	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: 0)

Overlap with SZ from candidate gene intersection analysis (count: 28)

Reference	ID in SZGene	Result Category
20832056	389	Positive
10932176	389	Positive
15211628	389	Negative
17054719	389	Positive
11381257	389	Negative
19571811	389	Positive
12627457	389	Positive
17553464	389	Negative
20673877	389	Positive
12627456	389	Negative
15091315	389	Positive
17192952	389	Trend
12873802	389	Negative
11803454	389	Negative
16364597	389	Negative
14732589	389	Positive
12782960	389	Negative
19571808	389	Positive
16538185	389	Negative
19158809	389	Positive
11239712	389	Negative
15389759	389	Positive
11407996	389	Negative
11381258	389	Negative
15009827	389	Negative
16894623	389	Positive
12605097	389	Negative
16969274	389	Negative

Gene relationship with MDD

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Region: chr6:32194843..32224067 View in gBrowse