Gene Report

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Basic Info

Approved Symbol	NOTCH3
Previous Symbol	CADASIL
Symbol Alias	CASIL
Approved Name	notch 3
Previous Name	Notch (Drosophila) homolog 3, "Notch homolog 3 (Drosophila)"
Location	19p13.2-p13.1
Position	chr19:15159038-15200981, -1
External Links	HGNC: 7883 Entrez Gene: 4854 Ensembl: ENSG00000074181 UCSC: uc002nan.3
No. of Studies	1 (Positive: 0; Negative: 1; trend: 0)
Overlap with SZ?	YES
Overlap with MDD?	NO

Gene related studies (count: 1)

Reference	Tested Markers	Statistical Values/Author Comments	Result Category	Comment on Study
Ahearn, E. P.,2002		Two-point linkage analysis yielded negative results for all models. Multipoint linkage analysis yielded negative results except for Model 1a, in which a maximal LOD score was -1.24.Nonparametric analyses were nonsignificant(P>0.05) for D19S923 and D19S841.. Notch3 does not appear to be a candidate gene for BPD in this family.	Negative	Comment on Study

Gene functional annotation

Gene related GO terms (count: 23)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0005509	calcium ion binding	molecular function	IEA	50
GO:0005886	plasma membrane	cellular component	TAS	360
GO:0016021	integral component of membrane	cellular component	IEA	219
GO:0043235	receptor complex	cellular component	IDA[23382219]	20

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0006367	transcription initiation from RNA polymerase II promoter	biological process	TAS	20
GO:0030900	forebrain development	biological process	IEA	5
GO:0072104	glomerular capillary formation	biological process	IEA	1
GO:0005789	endoplasmic reticulum membrane	cellular component	TAS	52
GO:0000139	Golgi membrane	cellular component	TAS	36
GO:0048661	positive regulation of smooth muscle cell proliferation	biological process	IEA	11
GO:0019899	enzyme binding	molecular function	IEA	34
GO:0005576	extracellular region	cellular component	TAS	97
GO:0007220	Notch receptor processing	biological process	TAS	2
GO:0005737	cytoplasm	cellular component	IDA	322
GO:0048663	neuron fate commitment	biological process	IEA	2
GO:0005654	nucleoplasm	cellular component	IDA; TAS	163
GO:0005829	cytosol	cellular component	TAS	223
GO:0045665	negative regulation of neuron differentiation	biological process	IEA	8
GO:0015629	actin cytoskeleton	cellular component	IDA	18
GO:0010467	gene expression	biological process	TAS	41
GO:0006355	regulation of transcription, DNA-templated	biological process	IEA	62
GO:0005515	protein binding	molecular function	IPI[11101851]	563
GO:0007219	Notch signaling pathway	biological process	TAS	14

Gene related KEGG pathways (count: 1)

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

Gene related BioCarta pathways (count: 0)

Gene related interactors from protein-protein interactions data in HPRD (count: 12)

Gene	Interactor	Interactor in BDgene?	Experiment Type	PMID
NOTCH3	PSEN2	NO	in vivo	11518718
NOTCH3	KAT2B	NO	in vitro;in vivo;yeast 2-hybrid	11404076
NOTCH3	JAG1	NO	in vitro;in vivo	14714274 , 12482954
NOTCH3	CHUK	NO	in vivo	17289033
NOTCH3	DLL1	NO	in vitro;in vivo	12482954 , 11006133
NOTCH3	MAML3	NO	in vivo	12370315
NOTCH3	MAML1	NO	in vitro;in vivo;yeast 2-hybrid	11101851
NOTCH3	PSEN1	NO	in vivo	11518718
NOTCH3	RBPJ	NO	in vivo	11404076
NOTCH3	MAML2	NO	in vivo	12370315
NOTCH3	SNW1	NO	in vitro;in vivo	11404076
NOTCH3	JAG2	NO	in vitro;in vivo	11006133

Related other genetic factors

Gene related SNPs (count: 0)

Gene related CNVs (count: 0)

Gene related other variants (count: 0)

Gene related regions (count: 3)

Region Name	Position	No. of Studies (Positive/Negative/Trend)
19p13-q13	chr19:0-58617616	1 (0/1/0)
Chr 19	chr19:0-58617616	2 (0/2/0)
19p13	chr19:0-19900000	2 (0/1/1)

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

Gene relationship with SZ

Reference	ID in SZGene	Result Category
16899352	196	Negative

Gene relationship with MDD

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Region: chr19:15159038..15200981 View in gBrowse