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	OPA1
Symbol Alias	NTG, KIAA0567, FLJ12460, NPG, MGM1
Approved Name	optic atrophy 1 (autosomal dominant)
Name Alias	mitochondrial dynamin-like GTPase, "dynamin-like guanosine triphosphatase", "Dynamin-like 120 kDa protein, mitochondrial"
Location	3q29
Position	chr3:193593144-193697823, 1
External Links	HGNC: 8140 Entrez Gene: 4976 Ensembl: ENSG00000198836 UCSC: uc003ftg.3
No. of Studies	1 (Positive: 0; Negative: 1; 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
Schosser, A.,2011		No significant association was observed.	Negative	Comment on Study

Gene functional annotation

Gene related GO terms (count: 27)

GO terms by PBA (count: 2)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0016020	membrane	cellular component	IDA[19946888]	137
GO:0016021	integral component of membrane	cellular component	IEA	219

GO terms by database search (count: 25)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0090398	cellular senescence	biological process	IDA[17545159]	2
GO:0030061	mitochondrial crista	cellular component	IDA[12504110]	2
GO:0000266	mitochondrial fission	biological process	TAS[12509422]	4
GO:0000002	mitochondrial genome maintenance	biological process	IMP[18158317]	1
GO:0005739	mitochondrion	cellular component	IDA	75
GO:0019896	axon transport of mitochondrion	biological process	TAS[11017080]	2
GO:0001843	neural tube closure	biological process	IEA	8
GO:0005758	mitochondrial intermembrane space	cellular component	ISS[11847212]	2
GO:0008152	metabolic process	biological process	IEA; TAS[11017080]	50
GO:0030425	dendrite	cellular component	ISS[11847212]	65
GO:0007007	inner mitochondrial membrane organization	biological process	IDA[12509422]	2
GO:0007005	mitochondrion organization	biological process	IMP[21149567]; NAS[11017080]	8
GO:0000287	magnesium ion binding	molecular function	NAS[11017080]	11
GO:0090201	negative regulation of release of cytochrome c from mitochondria	biological process	IMP[21149567]	5
GO:0005654	nucleoplasm	cellular component	IDA	163
GO:0006915	apoptotic process	biological process	IEA	39
GO:0007601	visual perception	biological process	IMP[11017080]	15
GO:0005525	GTP binding	molecular function	IEA	20
GO:0008053	mitochondrial fusion	biological process	IDA[17545159]; IMP[20436456]; TAS[12509422]	2
GO:1902236	negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway	biological process	IGI[23453807]	5
GO:0005737	cytoplasm	cellular component	IDA	322
GO:0005741	mitochondrial outer membrane	cellular component	IDA[12504110]	10
GO:0005743	mitochondrial inner membrane	cellular component	ISS; NAS[20436456]	12
GO:0003924	GTPase activity	molecular function	TAS[11017080]	14
GO:0005515	protein binding	molecular function	IPI[20436456]	563

Gene related KEGG pathways (count: 0)

Gene related BioCarta pathways (count: 0)

Gene related interactors from protein-protein interactions data in HPRD (count: 0)

Related other genetic factors

Gene related SNPs (count: 50)

Literature-origin SNPs (count: 1)

rs_ID	Location	Functional Annotation	No. of Studies (Positive/Negative/Trend)
rs7624750	chr3:193617202 - 193617202(1)	downstream_gene_variant; intron_variant; missense_variant; non_coding_transcript_exon_variant; non_coding_transcript_variant; upstream_gene_variant	1(0/1/0)

LD-proxies (count: 49)

rs_ID	Location	Functional Annotation
rs9831353	chr3:193664349 - 193664349(1)	downstream_gene_variant; intron_variant; upstream_gene_variant
rs720927	chr3:193661219 - 193661219(1)	downstream_gene_variant; intron_variant; upstream_gene_variant
rs10804957	chr3:193666184 - 193666184(1)	intron_variant; upstream_gene_variant
rs10937594	chr3:193666154 - 193666154(1)	intron_variant; upstream_gene_variant
rs9851685	chr3:193657175 - 193657175(1)	non_coding_transcript_exon_variant; non_coding_transcript_variant; synonymous_variant
rs6444735	chr3:193656595 - 193656595(1)	intron_variant; non_coding_transcript_variant
rs9291060	chr3:193660337 - 193660337(1)	downstream_gene_variant; intron_variant; upstream_gene_variant
rs9837255	chr3:193658438 - 193658438(1)	intron_variant; non_coding_transcript_variant; upstream_gene_variant
rs9845217	chr3:193647755 - 193647755(1)	downstream_gene_variant; intron_variant; non_coding_transcript_variant; upstream_gene_variant
rs1016226	chr3:193643828 - 193643828(1)	downstream_gene_variant; intron_variant; non_coding_transcript_variant; upstream_gene_variant
rs1466783	chr3:193653904 - 193653904(1)	intron_variant; non_coding_transcript_variant
rs11717605	chr3:193651674 - 193651674(1)	downstream_gene_variant; intron_variant; non_coding_transcript_variant
rs2101341	chr3:193632505 - 193632505(1)	downstream_gene_variant; intron_variant; non_coding_transcript_variant; upstream_gene_variant
rs12696671	chr3:193631130 - 193631130(1)	downstream_gene_variant; intron_variant; non_coding_transcript_variant; upstream_gene_variant
rs753815	chr3:193641416 - 193641416(1)	downstream_gene_variant; intron_variant; non_coding_transcript_variant; upstream_gene_variant
rs6807435	chr3:193636166 - 193636166(1)	intron_variant; non_coding_transcript_variant; upstream_gene_variant
rs9817704	chr3:193619232 - 193619232(1)	downstream_gene_variant; intron_variant; non_coding_transcript_variant; upstream_gene_variant
rs6770913	chr3:193620546 - 193620546(1)	downstream_gene_variant; intron_variant; non_coding_transcript_variant; upstream_gene_variant
rs6791301	chr3:193625972 - 193625972(1)	downstream_gene_variant; intron_variant; non_coding_transcript_variant; upstream_gene_variant
rs6444733	chr3:193628859 - 193628859(1)	downstream_gene_variant; intron_variant; non_coding_transcript_variant; upstream_gene_variant
rs7646250	chr3:193616804 - 193616804(1)	downstream_gene_variant; intron_variant; non_coding_transcript_variant; upstream_gene_variant
rs7646539	chr3:193617057 - 193617057(1)	downstream_gene_variant; intron_variant; non_coding_transcript_variant; upstream_gene_variant
rs10937593	chr3:193617463 - 193617463(1)	downstream_gene_variant; intron_variant; non_coding_transcript_variant; upstream_gene_variant
rs3772393	chr3:193618850 - 193618850(1)	intron_variant; non_coding_transcript_exon_variant; non_coding_transcript_variant
rs11925699	chr3:193603326 - 193603326(1)	intron_variant
rs6797738	chr3:193603384 - 193603384(1)	intron_variant
rs9819038	chr3:193605081 - 193605081(1)	intron_variant
rs9828315	chr3:193612233 - 193612233(1)	intron_variant; upstream_gene_variant
rs9856156	chr3:193596806 - 193596806(1)	intron_variant; upstream_gene_variant
rs12696670	chr3:193598259 - 193598259(1)	intron_variant
rs6790120	chr3:193600787 - 193600787(1)	intron_variant
rs12152411	chr3:193697890 - 193697890(1)	downstream_gene_variant
rs7638928	chr3:193690630 - 193690630(1)	intron_variant; upstream_gene_variant
rs13067959	chr3:193689914 - 193689914(1)	intron_variant; upstream_gene_variant
rs6793945	chr3:193690100 - 193690100(1)	intron_variant; upstream_gene_variant
rs12696674	chr3:193689658 - 193689658(1)	intron_variant; upstream_gene_variant
rs13068219	chr3:193689861 - 193689861(1)	intron_variant; upstream_gene_variant
rs6770511	chr3:193684901 - 193684901(1)	intron_variant
rs10937598	chr3:193686230 - 193686230(1)	intron_variant
rs1806741	chr3:193684085 - 193684085(1)	intron_variant
rs2367721	chr3:193684214 - 193684214(1)	intron_variant
rs2088335	chr3:193682987 - 193682987(1)	intron_variant
rs4443116	chr3:193683232 - 193683232(1)	intron_variant
rs3851984	chr3:193675823 - 193675823(1)	intron_variant
rs872663	chr3:193681499 - 193681499(1)	intron_variant
rs11915238	chr3:193670042 - 193670042(1)	downstream_gene_variant; intron_variant
rs6444737	chr3:193673891 - 193673891(1)	downstream_gene_variant; intron_variant
rs12494482	chr3:193668450 - 193668450(1)	3_prime_UTR_variant; intron_variant; missense_variant
rs7616448	chr3:193669556 - 193669556(1)	downstream_gene_variant; intron_variant

Gene related CNVs (count: 0)

Gene related other variants (count: 0)

Gene related regions (count: 2)

Region Name	Position	No. of Studies (Positive/Negative/Trend)
Chr 3	chr3:0-198295559	2 (0/2/0)
3q29	chr3:192600000-198295559	2 (1/0/1)

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

Gene relationship with SZ

Gene relationship with MDD

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Region: chr3:193593144..193697823 View in gBrowse