ADHDgene Database

Gene Report

Basic Info

Approved Symbol	OPA1
Symbol Alias	NTG, KIAA0567, FLJ12460, NPG, MGM1
Approved Name	optic atrophy 1 (autosomal dominant)
Name Alias	mitochondrial dynamin-like GTPase
Location	3q28-q29
Position	chr3:193310933-193415612, +
External Links	HGNC: 8140 Entrez Gene: 4976 Ensembl: ENSG00000198836 UCSC: uc003ftg.2
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: 1)

ID	Location	Size	Band	Type	Inheritance
CNV_Williams[2010]_50	chr3:194759366-195501036 (NCBI Build 36.1 (hg18))	741671	3q29	Gain

Gene related other variant (count: 0)

Gene related regions (count: 0)

Gene related GO terms (count: 22)

ID	Name	Type	Evidence[PMID]	No. of Genes in ADHDgene
GO:0090398	cellular senescence	Biological Process	IDA[17545159]	3
GO:0090201	negative regulation of release of cytochrome c from mitochondria	Biological Process		2
GO:0030425	dendrite	Cellular Component	ISS[11847212]	46
GO:0030061	mitochondrial crista	Cellular Component	IDA[12504110]	1
GO:0019896	axon transport of mitochondrion	Biological Process	TAS[11017080]	1
GO:0016021	integral to membrane	Cellular Component		845
GO:0008053	mitochondrial fusion	Biological Process	IDA[17545159]; TAS[12509422]	3
GO:0007601	visual perception	Biological Process	IMP[11017080]	30
GO:0007007	inner mitochondrial membrane organization	Biological Process	IDA[12509422]	2
GO:0005758	mitochondrial intermembrane space	Cellular Component	ISS[11847212]	9
GO:0006184	GTP catabolic process	Biological Process	TAS[11017080]	22
GO:0006915	apoptotic process	Biological Process		111
GO:0007005	mitochondrion organization	Biological Process	NAS[11017080]	5
GO:0005525	GTP binding	Molecular Function		53
GO:0005739	mitochondrion	Cellular Component	IDA[17545159]	183
GO:0005741	mitochondrial outer membrane	Cellular Component	IDA[12504110]	21
GO:0005743	mitochondrial inner membrane	Cellular Component		44
GO:0000287	magnesium ion binding	Molecular Function	NAS[11017080]	28
GO:0001843	neural tube closure	Biological Process		10
GO:0003924	GTPase activity	Molecular Function	TAS[11017080]	41
GO:0005515	protein binding	Molecular Function		910
GO:0000266	mitochondrial fission	Biological Process	TAS[12509422]	2

Gene related KEGG pathways (count: 0)

Genes shared at least 5 GO terms with OPA1 (count: 4)

Gene Symbol	Pathway Count	Pathway List
BNIP3	5	dendrite; apoptotic process; mitochondrion; mitochondrial outer membrane; protein binding;
CHCHD3	5	mitochondrial fusion; inner mitochondrial membrane organization; mitochondrion; mitochondrial inner membrane; protein binding;
ARL2	5	mitochondrial intermembrane space; GTP catabolic process; GTP binding; GTPase activity; protein binding;
ARF6	5	GTP catabolic process; apoptotic process; GTP binding; GTPase activity; protein binding;

Genes shared at least 2 KEGG pathways with OPA1 (count: 0)

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Region: chr3:193310933..193415612 View in gBrowse