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	OPTN
Previous Symbol	GLC1E
Symbol Alias	FIP2, HYPL, FIP-2, TFIIIA-INTP, NRP, HIP7
Approved Name	optineurin
Previous Name	glaucoma 1, open angle, E (adult-onset)
Location	10p14
Position	chr10:13099449-13138308, 1
External Links	HGNC: 17142 Entrez Gene: 10133 Ensembl: ENSG00000123240 UCSC: uc001ilx.1
No. of Studies	1 (Positive: 0; Negative: 0; trend: 1)
Overlap with SZ?	YES
Overlap with MDD?	YES

Gene related studies (count: 1)

Reference	Tested Markers	Statistical Values/Author Comments	Result Category	Comment on Study
Huang, J.,2010	SNP: rs10508451	Suggestive association was found in BD-II.	Trend	Comment on Study

Gene functional annotation

Gene related GO terms (count: 30)

GO terms by PBA (count: 2)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0005634	nucleus	cellular component	IBA	283
GO:0016236	macroautophagy	biological process	IDA[21617041]	2

GO terms by database search (count: 28)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0031593	polyubiquitin binding	molecular function	IDA[21617041]	3
GO:0001920	negative regulation of receptor recycling	biological process	IMP[22854040]	1
GO:0070530	K63-linked polyubiquitin binding	molecular function	IBA	3
GO:0000139	Golgi membrane	cellular component	TAS	36
GO:0043124	negative regulation of I-kappaB kinase/NF-kappaB signaling	biological process	IEA	5
GO:0005737	cytoplasm	cellular component	IDA	322
GO:0005829	cytosol	cellular component	TAS	223
GO:0005776	autophagic vacuole	cellular component	IEA	2
GO:0042802	identical protein binding	molecular function	IPI[23414517]	44
GO:0050829	defense response to Gram-negative bacterium	biological process	IMP[21617041]	3
GO:0005794	Golgi apparatus	cellular component	IDA[15837803]	60
GO:0008022	protein C-terminus binding	molecular function	IPI[15837803]	21
GO:0017137	Rab GTPase binding	molecular function	IPI[17646400]	6
GO:0007030	Golgi organization	biological process	IMP[15837803]	4
GO:0000042	protein targeting to Golgi	biological process	IMP[15837803]	1
GO:0000086	G2/M transition of mitotic cell cycle	biological process	TAS	15
GO:0005654	nucleoplasm	cellular component	TAS	163
GO:0043122	regulation of I-kappaB kinase/NF-kappaB signaling	biological process	IBA	3
GO:0005515	protein binding	molecular function	IPI[15837803]	563
GO:0008219	cell death	biological process	TAS[9488477]	5
GO:0048471	perinuclear region of cytoplasm	cellular component	IEA	50
GO:0005802	trans-Golgi network	cellular component	IDA[20174559]	10
GO:0016023	cytoplasmic membrane-bounded vesicle	cellular component	IBA	16
GO:0043001	Golgi to plasma membrane protein transport	biological process	IMP[15837803]	6
GO:0055037	recycling endosome	cellular component	IEA	14
GO:0090161	Golgi ribbon formation	biological process	IDA[15837803]	1
GO:0000278	mitotic cell cycle	biological process	TAS	33
GO:0007165	signal transduction	biological process	TAS[9488477]	136

Gene related KEGG pathways (count: 0)

Gene related BioCarta pathways (count: 0)

Gene related interactors from protein-protein interactions data in HPRD (count: 9)

Gene	Interactor	Interactor in BDgene?	Experiment Type	PMID
OPTN	HTT	YES	yeast 2-hybrid	11137014
OPTN	TBC1D17	NO	yeast 2-hybrid	16189514
OPTN	CCDC53	NO	yeast 2-hybrid	16189514
OPTN	FLII	NO	yeast 2-hybrid	10366446
OPTN	GTF3A	NO	in vitro	10756201
OPTN	FOS	NO	in vivo;in vitro	15867431
OPTN	RAB11B	NO	in vitro;in vivo	11495908
OPTN	RNF11	NO	yeast 2-hybrid	15231748
OPTN	RAB8A	NO	yeast 2-hybrid	11137014

Related other genetic factors

Gene related SNPs (count: 1)

Literature-origin SNPs (count: 1)

rs_ID	Location	Functional Annotation	No. of Studies (Positive/Negative/Trend)
rs10508451	chr10:12962213 - 12962213(1)	intron_variant	1(0/0/1)

LD-proxies (count: 0)

Gene related CNVs (count: 0)

Gene related other variants (count: 0)

Gene related regions (count: 4)

Region Name	Position	No. of Studies (Positive/Negative/Trend)
10p11-p14	chr10:6600000-39800000	1 (0/1/0)
Chr 10	chr10:0-133797422	3 (0/2/1)
10p13	chr10:12200000-17300000	2 (0/1/1)
10p13-p15	chr10:0-17300000	1 (0/1/0)

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

Gene relationship with SZ

Overlap with SZ from cross-disorder studies (count: 1)

Reference	Description	Result Category
20713499	No significant association of this gene was observed in SZ.	Negative

Overlap with SZ from candidate gene intersection analysis (count: 0)

Gene relationship with MDD

Overlap with MDD from cross-disorder studies (count: 1)

Reference	Description	Category in MDD
20713499	No significant association was observed in MDD.	Negative

Overlap with MDD from candidate gene intersection analysis (count: 0)

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Region: chr10:13099449..13138308 View in gBrowse