Gene Report

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Basic Info

Approved Symbol	EXOC4
Previous Symbol	SEC8L1
Symbol Alias	KIAA1699, MGC27170, SEC8, Sec8p
Approved Name	exocyst complex component 4
Previous Name	SEC8-like 1 (S. cerevisiae)
Location	7q31
Position	chr7:133253073-134066589, 1
External Links	HGNC: 30389 Entrez Gene: 60412 Ensembl: ENSG00000131558 UCSC: uc003vrk.3
No. of Studies	1 (Positive: 0; Negative: 0; trend: 1)
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
McQuillin, A.,2011		Gene related CNV occurred in two or more cases but not in controls.	Trend	Comment on Study

Gene functional annotation

Gene related GO terms (count: 16)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0016020	membrane	cellular component	IDA[19946888]	137
GO:0030165	PDZ domain binding	molecular function	IEA	16
GO:0005886	plasma membrane	cellular component	TAS	360

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0035748	myelin sheath abaxonal region	cellular component	IEA	3
GO:0061024	membrane organization	biological process	TAS	14
GO:0015031	protein transport	biological process	IEA	21
GO:0047485	protein N-terminus binding	molecular function	IPI[18480549]	12
GO:0006904	vesicle docking involved in exocytosis	biological process	IEA	2
GO:0017160	Ral GTPase binding	molecular function	IPI[24056301]	1
GO:0006996	organelle organization	biological process	TAS	23
GO:0005829	cytosol	cellular component	TAS	223
GO:0005737	cytoplasm	cellular component	IDA	322
GO:0032584	growth cone membrane	cellular component	IEA	2
GO:0044267	cellular protein metabolic process	biological process	TAS	28
GO:0000145	exocyst	cellular component	IEA	2
GO:0005515	protein binding	molecular function	IPI[18329369]	563

Gene related KEGG pathways (count: 1)

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

Gene related BioCarta pathways (count: 0)

Gene related interactors from protein-protein interactions data in HPRD (count: 6)

Gene	Interactor	Interactor in BDgene?	Experiment Type	PMID
EXOC4	DLG3	YES	in vitro;yeast 2-hybrid	12738960
EXOC4	GRIN2B	YES	in vivo	12738960
EXOC4	RALA	NO	in vitro	11406615
EXOC4	DLGAP4	NO	in vitro;in vivo	12675619
EXOC4	EXOC7	NO	in vitro	12687004
EXOC4	BIRC6	NO	in vivo	18329369

Related other genetic factors

Gene related SNPs (count: 0)

Gene related CNVs (count: 1)

ID	Location	Size	Band	Type	Inheritance
CNV_McQuillin[2011]_15	chr7:132588362-133401053 (NCBI Build 36 (hg18))	812692

Gene related other variants (count: 0)

Gene related regions (count: 2)

Region Name	Position	No. of Studies (Positive/Negative/Trend)
Chr 7	chr7:0-159345973	3 (0/3/0)
7q31-33	chr7:107800000-138500000	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: chr7:133253073..134066589 View in gBrowse