ADHDgene Database

Gene Report

Basic Info

Approved Symbol	SEPT5
Previous Symbol	PNUTL1
Symbol Alias	HCDCREL-1, H5
Approved Name	septin 5
Previous Name	"peanut-like 1 (Drosophila)"
Location	22q11.2
Position	chr22:19701987-19712295, 1
External Links	HGNC: 9164 Entrez Gene: 5413 Ensembl: ENSG00000184702
No. of Studies	0 (significant: 0; non-significant: 0; trend: 0)
Source	Mapped by CNV

Gene related studies (count: 0)

Gene related SNPs (count: 0)

Gene related CNVs (count: 2)

ID	Location	Size	Band	Type	Inheritance
CNV_Jarick[2012]_41	chr22:17616020-19792353 (NCBI36 / hg18)	2176334	22q11.21	dup
CNV_Jarick[2012]_40	chr22:17257787-19792353 (NCBI36 / hg18)	2534567	22q11.21	dup

Gene related other variant (count: 0)

Gene related regions (count: 0)

Gene related GO terms (count: 13)

ID	Name	Type	Evidence[PMID]	No. of Genes in ADHDgene
GO:0005198	structural molecule activity	molecular function	TAS[9611266]	34
GO:0031105	septin complex	cellular component	IEA	3
GO:0017157	regulation of exocytosis	biological process	IMP[10321247]	4
GO:0008021	synaptic vesicle	cellular component	IDA[10321247]	14
GO:0005886	plasma membrane	cellular component	IDA[10321247]	839
GO:0016080	synaptic vesicle targeting	biological process	TAS[10321247]	2
GO:0005515	protein binding	molecular function	IPI[16767699]	1015
GO:0007049	cell cycle	biological process	IEA	36
GO:0005525	GTP binding	molecular function	IEA	64
GO:0043195	terminal bouton	cellular component	IEA	11
GO:0006184	GTP catabolic process	biological process	TAS[9385360]	24
GO:0000910	cytokinesis	biological process	TAS[9611266]	17
GO:0003924	GTPase activity	molecular function	TAS[9385360]	46

Gene related KEGG pathways (count: 0)

Genes shared at least 5 GO terms with SEPT5 (count: 3)

Gene Symbol	Pathway Count	Pathway List
RAB14	5	plasma membrane; protein binding; GTP binding; GTP catabolic process; GTPase activity;
ARF6	5	plasma membrane; protein binding; GTP binding; GTP catabolic process; GTPase activity;
ARL2	5	protein binding; cell cycle; GTP binding; GTP catabolic process; GTPase activity;

Genes shared at least 2 KEGG pathways with SEPT5 (count: 0)

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Region: chr22:19701987..19712295 View in gBrowse