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	chr22:19701987-19712297, +
External Links	HGNC: 9164 Entrez Gene: 5413 Ensembl: ENSG00000184702 UCSC: uc002zpv.1
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:0005515	protein binding	Molecular Function	IPI[16767699]	910
GO:0005198	structural molecule activity	Molecular Function	TAS[9611266]	29
GO:0003924	GTPase activity	Molecular Function	TAS[9385360]	41
GO:0000910	cytokinesis	Biological Process	TAS[9611266]	15
GO:0007049	cell cycle	Biological Process		31
GO:0006184	GTP catabolic process	Biological Process	TAS[9385360]	22
GO:0005886	plasma membrane	Cellular Component	IDA[10321247]	772
GO:0005525	GTP binding	Molecular Function		53
GO:0031105	septin complex	Cellular Component		2
GO:0017157	regulation of exocytosis	Biological Process	IMP[10321247]	3
GO:0016080	synaptic vesicle targeting	Biological Process	TAS[10321247]	2
GO:0008021	synaptic vesicle	Cellular Component	IDA[10321247]	13
GO:0043195	terminal bouton	Cellular Component		11

Gene related KEGG pathways (count: 1)

ID	Name	No. of Genes in ADHDgene	Brief Description
hsa05012	Parkinson's disease	22	Parkinson's disease (PD) is a progressive neurodegenerative ...... Parkinson's disease (PD) is a progressive neurodegenerative movement disorder that results primarily from the death of dopaminergic neurons in the substantia nigra. Mutations in alpha-synuclein, UCHL1 (a ubiquitin carboxy-terminal hydrolase L1), parkin, DJ1 (a parkin-associated protein involved with oxidative stress), and PINK1 (a putative serine threonine kinase) are known to cause early-onset PD. These pathogenic mutations are associated with disease through pathogenic pathways that may commonly lead proteasome dysfunction, mitochondrial impairment, and oxidative stress. Point mutations in alpha-synuclein lead to excessive intracellular accumulation and protofibril formation. Decrease in the amount of soluble alpha-synuclein tends to increase free cytoplasmic dopamine and the formation of reactive oxygen species (ROS). Modification of parkin and UCHL1 are associated with the ubiquitin-proteasome system pathway and may increase proteotoxic stress. Mutations in parkin, DJ1, and PINK1 may alter mitochondiral activity, potentially impairing proteasomal function. Environmental toxins such as N-methyl-4-phenyl-1,2,3,6-tetrahydropyridine (MPTP) and rotenone can cause mitochondrial dysfunction and oxidative stress. More...

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

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

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

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Region: chr22:19701987..19712297 View in gBrowse