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	CTTN
Previous Symbol	EMS1
Approved Name	cortactin
Previous Name	ems1 sequence (mammary tumor and squamous cell carcinoma-associated (p80/85 src substrate)
Location	11q13
Position	chr11:70398404-70436584, 1
External Links	HGNC: 3338 Entrez Gene: 2017 Ensembl: ENSG00000085733 UCSC: uc001opu.3
No. of Studies	1 (Positive: 1; Negative: 0; trend: 0)
Overlap with SZ?	NO
Overlap with MDD?	NO

Gene related studies (count: 1)

Reference	Tested Markers	Statistical Values/Author Comments	Result Category	Comment on Study
Noor A., 2014		Selected stringent CNV related to this gene is validated by qPCR from BD case data.	Positive	Comment on Study

Gene functional annotation

Gene related GO terms (count: 29)

GO terms by PBA (count: 1)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0008076	voltage-gated potassium channel complex	cellular component	IDA[12151401]	8

GO terms by database search (count: 28)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0031532	actin cytoskeleton reorganization	biological process	ISS	8
GO:0070062	extracellular vesicular exosome	cellular component	IDA[23376485]	176
GO:0005737	cytoplasm	cellular component	IDA[10760273]; ISS	322
GO:0030426	growth cone	cellular component	ISS	22
GO:0030863	cortical cytoskeleton	cellular component	IDA[12151401]	1
GO:1990023	mitotic spindle midzone	cellular component	IEA	1
GO:0043197	dendritic spine	cellular component	IEA	21
GO:0006930	substrate-dependent cell migration, cell extension	biological process	IEA	1
GO:0048041	focal adhesion assembly	biological process	ISS	4
GO:0006898	receptor-mediated endocytosis	biological process	ISS	12
GO:0030041	actin filament polymerization	biological process	IEA	4
GO:0030027	lamellipodium	cellular component	IDA[10760273]; ISS	9
GO:0048870	cell motility	biological process	ISS	3
GO:0097581	lamellipodium organization	biological process	ISS	1
GO:0048812	neuron projection morphogenesis	biological process	ISS	7
GO:0001726	ruffle	cellular component	ISS	10
GO:0005856	cytoskeleton	cellular component	TAS[9054437]	30
GO:0005925	focal adhesion	cellular component	IDA[21423176]	32
GO:0005905	coated pit	cellular component	ISS	4
GO:0002102	podosome	cellular component	IEA	3
GO:0030838	positive regulation of actin filament polymerization	biological process	ISS	6
GO:0006886	intracellular protein transport	biological process	IMP[17959782]	10
GO:0005884	actin filament	cellular component	IDA[12151401]	9
GO:0097062	dendritic spine maintenance	biological process	IEA	2
GO:2001237	negative regulation of extrinsic apoptotic signaling pathway	biological process	IEA	6
GO:0005938	cell cortex	cellular component	ISS	7
GO:0030516	regulation of axon extension	biological process	ISS	3
GO:0005515	protein binding	molecular function	IPI[15169891]	563

Gene related KEGG pathways (count: 3)

KEGG pathways by PBA (count: 1)

ID	Name	No. of Genes in BDgene	Brief Description
hsa04530	Tight junction	18

KEGG pathways by database search (count: 2)

ID	Name	No. of Genes in BDgene	Brief Description
hsa05131	EPEC	6
hsa05130	Pathogenic Escherichia coli infection	6

Gene related BioCarta pathways (count: 1)

BioCarta pathways by PBA (count: 0)

BioCarta pathways by database search (count: 1)

ID	Name	No. of Genes in BDgene	Brief Description
agrPathway	Agrin in Postsynaptic Differentiation	8

Gene related interactors from protein-protein interactions data in HPRD (count: 25)

Gene	Interactor	Interactor in BDgene?	Experiment Type	PMID
CTTN	HIP1R	NO	in vitro;in vivo	17318189
CTTN	TJP1	NO	in vitro;in vivo	9792678 , 11018051
CTTN	SRC	NO	in vitro;in vivo	9748248
CTTN	CTNND1	NO	in vitro	12835311
CTTN	NCF1	NO	in vivo	15618548
CTTN	ARHGAP8	YES	in vitro;in vivo	15064355
CTTN	CTTNBP2	NO	in vitro	9813110
CTTN	GRB2	NO	in vitro	11439336
CTTN	CTNND2	YES	in vitro;in vivo;yeast 2-hybrid	12835311
CTTN	MET	NO	in vitro;in vivo	11439336
CTTN	HAX1	NO	in vitro	15159385
CTTN	SDC3	NO	in vitro	9553134
CTTN	ANKZF1	NO	yeast 2-hybrid	16169070
CTTN	CHD3	NO	yeast 2-hybrid	16169070
CTTN	MYLK	NO	in vitro	12408982
CTTN	DNM2	NO	in vitro;in vivo	12419186
CTTN	ARHGAP17	NO	in vitro	11431473
CTTN	ACTA1	NO	in vivo	7680654 , 11018051
CTTN	WASL	NO	in vitro;in vivo	11830518
CTTN	SYK	NO	in vivo	8636079
CTTN	ACTR3	NO	in vitro;in vivo	12176742
CTTN	FER	NO	in vitro;in vivo	9722593 , 9748248 , 10921917
CTTN	DNM1	NO	in vitro;in vivo	12419186
CTTN	KCNA2	NO	in vitro;in vivo	12151401
CTTN	FGD1	NO	in vitro	12913069

Related other genetic factors

Gene related SNPs (count: 0)

Gene related CNVs (count: 1)

ID	Location	Size	Band	Type	Inheritance
CNV_Abdul Noor[2014]_33	chr11:69878242-70154458 (NCBI Build 36/hg18)	276000	11q13.3	duplication

Gene related other variants (count: 0)

Gene related regions (count: 3)

Region Name	Position	No. of Studies (Positive/Negative/Trend)
Chr 11	chr11:0-135086622	2 (0/2/0)
11q14.3-11q21	chr11:22000000-97400000	1 (0/0/1)
11p13-q13.3	chr11:31000000-70500000	1 (0/1/0)

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

Gene relationship with SZ

Gene relationship with MDD

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Region: chr11:70398404..70436584 View in gBrowse