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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

OPTN Gene

protein-coding GIFtS: 59
GCID: GC10P013055

optineurin

(Previous names: glaucoma 1, open angle, E (adult-onset) )
(Previous symbol: GLC1E)

Explore 25 diseases affiliated with
OPTN via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Optineurin¹		Optic Neuropathy-Inducing Protein² ³
FIP2¹ ² ³ ⁵		Transcription Factor IIIA-Interacting Protein² ³
GLC1E¹ ² ³ ⁵		FIP-2² ³
HYPL¹ ² ³ ⁵		HIP-7² ³
NRP¹ ² ³ ⁵		E3-14.7K-Interacting Protein² ³
HIP7¹ ² ³		ALS12² ⁵
TFIIIA-INTP¹ ²		Glaucoma 1, Open Angle, E (Adult-Onset)¹
Huntingtin Yeast Partner L² ³		Huntingtin Interacting Protein L²
Huntingtin-Interacting Protein 7² ³		Transcrption Factor IIIA-Interacting Protein²
Huntingtin-Interacting Protein L² ³		Tumor Necrosis Factor Alpha-Inducible Cellular Protein Containing Leucine Zipper Domains²
NEMO-Related Protein² ³		TFIIIA-IntP³

External Ids:	HGNC: 17142¹	Entrez Gene: 10133²	Ensembl: ENSG00000123240⁷	OMIM: 602432⁵	UniProtKB: Q96CV9³

Export aliases for OPTN gene to outside databases

Previous GC identifers: GC10P013123 GC10P013291 GC10P013145 GC10P013146 GC10P013181

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for OPTN:

This gene encodes the coiled-coil containing protein optineurin. Optineurin may play a role in normal-tension glaucoma

and adult-onset primary open angle glaucoma. Optineurin interacts with adenovirus E3-14.7K protein and may utilize

tumor necrosis factor-alpha or Fas-ligand pathways to mediate apoptosis, inflammation or vasoconstriction. Optineurin

may also function in cellular morphogenesis and membrane trafficking, vesicle trafficking, and transcription

activation through its interactions with the RAB8, huntingtin, and transcription factor IIIA proteins. Alternative

splicing results in multiple transcript variants encoding the same protein. (provided by RefSeq, Jul 2008)

UniProtKB/Swiss-Prot: OPTN_HUMAN, Q96CV9

Function: Plays an important role in the maintenance of the Golgi complex, in membrane trafficking, in exocytosis,

through its interaction with myosin VI and Rab8. Links myosin VI to the Golgi complex and plays an important role in

Golgi ribbon formation. Negatively regulates the induction of IFNB in response to RNA virus infection. Plays a

neuroprotective role in the eye and optic nerve. Probably part of the TNF-alpha signaling pathway that can shift the

equilibrium toward induction of cell death. May act by regulating membrane trafficking and cellular morphogenesis via

a complex that contains Rab8 and hungtingtin (HD). May constitute a cellular target for adenovirus E3 14.7, an

inhibitor of TNF-alpha functions, thereby affecting cell death

Gene Wiki entry for OPTN (Optineurin)

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000010.10 NC_018921.1 NT_008705.16

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the OPTN gene promoter:
Sp1
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: OPTN promoter sequence

Search SABiosciences Chromatin IP Primers for OPTN

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat OPTN

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 10p13 Ensembl cytogenetic band: 10p13 HGNC cytogenetic band: 10p14

OPTN Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
OPTN gene location

GeneLoc information about chromosome 10 GeneLoc Exon Structure

GeneLoc location for GC10P013055: view genomic region (about GC identifiers)

Start:	13,141,449 bp from pter	End:	13,180,291 bp from pter
Size:	38,843 bases	Orientation:	plus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: OPTN_HUMAN, Q96CV9 (See protein sequence)

Recommended Name: Optineurin

Size: 577 amino acids; 65921 Da

Subunit: Interacts with E3 14.7 kDa protein of group C human adenovirus. Interacts with HD. Interacts with Rab8 (RAB8A

and/or RAB8B). Interacts with transcription factor IIIA (GTF3A). Interacts with TRAF3, TBK1 and MYO6. Binds to

ubiquitin

Subcellular location: Cytoplasm, perinuclear region. Golgi apparatus. Golgi apparatus, trans-Golgi network. Note=Found

in the perinuclear region and associates with the Golgi apparatus. Colocalizes with MYO6 and RAB8 at the Golgi complex

and in vesicular structures close to the plasma membrane

Caution: According to some authors (PubMed:12379221) its expression is regulated by intraocular pressure, suggesting a

protective role in case of high pressure, while according to other authors (PubMed:12646749), it is not up-regulated

in response to pressure elevation

Sequence caution: Sequence=CAI16552.1; Type=Erroneous gene model prediction;

1 PDB 3D structure from and Proteopedia for OPTN:

2LO4 (3D)

Secondary accessions: B3KP00 D3DRS4 D3DRS8 Q5T672 Q5T673 Q5T674 Q5T675 Q7LDL9 Q8N562 Q9UET9 Q9UEV4

Q9Y218

Alternative splicing: 3 isoforms: Q96CV9-1 Q96CV9-2 Q96CV9-3 (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for OPTN: NX_Q96CV9

Post-translational modifications:

Phosphorylated by TBK1, leading to restrict bacterial proliferation in case of infection. Phosphorylation is induced by

phorbol esters and decreases its half-time¹

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q96CV9

OPTN Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (4 alternative transcripts):

NP_001008212.1 NP_001008213.1 NP_001008214.1 NP_068815.2

ENSEMBL proteins:

ENSP00000263036 ENSP00000368040 ENSP00000368032 ENSP00000414747 ENSP00000368027

ENSP00000368022 ENSP00000368021 ENSP00000400356

Reactome Protein details: Q96CV9
Human Recombinant Protein Products for OPTN:

	Browse Purified and Recombinant Proteins at EMD Millipore
	Browse R&D Systems for human recombinant proteins
	Browse recombinant and purified proteins available from Enzo Life Sciences
	OriGene Purified Protein: OPTN OriGene Protein Over-expression Lysate (see all 7): OPTN OriGene Custom Protein Services for OPTN
	GenScript Custom Purified and Recombinant Proteins Services for OPTN
	Novus Biologicals OPTN Proteins Novus Biologicals OPTN Lysates
	Browse Sino Biological Recombinant Proteins
	Browse ProSpec Recombinant Proteins
	Uscn Proteins for OPTN

Gene Ontology (GO): 5 cellular component terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005737	cytoplasm	IDA	--
GO:0005794	Golgi apparatus	IDA	15837803
GO:0005802	trans-Golgi network	IDA	--
GO:0016023	cytoplasmic membrane-bounded vesicle	--	--
GO:0048471	perinuclear region of cytoplasm	IEA	--

OPTN for ontologies About GeneDecksing

OPTN Antibody Products:

	EMD Millipore Mono- and Polyclonal Antibodies for the study of OPTN
	Browse R&D Systems for Antibodies
	Browse OriGene Antibodies OriGene Custom Antibody Services for OPTN
	GenScript Custom Superior Antibodies Services for OPTN
	Novus Biologicals OPTN Antibodies
	Abcam antibodies for OPTN
	Uscn Antibodies for OPTN
	Search ThermoFisher Antibodies for OPTN

Assay Products for OPTN:

	Browse Kits and Assays available from EMD Millipore
	OriGene Custom Immunoassay Development Browse OriGene Fluorogenic Cell Assay Kits
	Browse R&D Systems for biochemical assays
	GenScript Custom Assay Services for OPTN
	Browse Enzo Life Sciences for kits & assays
	Uscn ELISAs and CLIAs for OPTN

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

OPTN for domains About GeneDecksing

1 InterPro domain/family:

IPR021063 NEMO_N

Graphical View of Domain Structure for InterPro Entry Q96CV9

ProtoNet protein and cluster: Q96CV9

UniProtKB/Swiss-Prot: OPTN_HUMAN, Q96CV9

Domain: Ubiquitin-binding motif (UBAN) is essential for its inhibitory function, subcellular localization and

interaction with TBK1

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Molecular Function:

UniProtKB/Swiss-Prot Summary: OPTN_HUMAN, Q96CV9

Function: Plays an important role in the maintenance of the Golgi complex, in membrane trafficking, in exocytosis,

through its interaction with myosin VI and Rab8. Links myosin VI to the Golgi complex and plays an important role in

Golgi ribbon formation. Negatively regulates the induction of IFNB in response to RNA virus infection. Plays a

neuroprotective role in the eye and optic nerve. Probably part of the TNF-alpha signaling pathway that can shift the

equilibrium toward induction of cell death. May act by regulating membrane trafficking and cellular morphogenesis via

a complex that contains Rab8 and hungtingtin (HD). May constitute a cellular target for adenovirus E3 14.7, an

inhibitor of TNF-alpha functions, thereby affecting cell death

Induction: Upon TNF and interferon treatments. Up-regulated in direct response to viral infection

Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005515	protein binding	IPI	--
GO:0008022	protein C-terminus binding	IPI	15837803

OPTN for ontologies About GeneDecksing

Phenotypes:
3 GenomeRNAi human phenotypes for OPTN:

Decreased Salmonella enterica

Increased gamma-H2AX phosphory

Synthetic lethal with c-Myc af

Animal Models:

inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for OPTN

miRNA Products:		OriGene 3'-UTR Clone (see all 4): OPTN Browse MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat OPTN
		8/14 QIAGEN miScript miRNA Assays for microRNAs that regulate OPTN (see all 14):
		hsa-miR-548p hsa-miR-7-2* hsa-miR-26b* hsa-miR-4282 hsa-miR-432 hsa-miR-570 hsa-miR-374c hsa-miR-9

		SwitchGear 3'UTR luciferase reporter plasmid: OPTN 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for OPTN (see all 7) OriGene shRNA RFP: OPTN OriGene siRNA: OPTN
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat OPTN
		Sirion Biotech Custom design and validation of potent shRNA sequences against OPTN

Gene Editing Products:			DNA2.0 Custom Protein Engineering Service for OPTN
			Sirion Biotech Customized adenovirus for overexpression of OPTN Sirion Biotech Customized adenovirus for potent knockdown of OPTN

Clone Products:		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for OPTN (see all 6) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for OPTN (see all 4) OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector (see all 4): OPTN (NM_001008211)
		Browse Sino Biological Human cDNA Clones
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for OPTN
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat OPTN

Cell Line Products:		GenScript Custom overexpressing Cell Line Services for OPTN
		Search LifeMap BioReagents cell lines for OPTN
		Sirion Biotech Customized stable knockdown cell line services for OPTN Sirion Biotech Customized inducible knockdown cell line services for OPTN Sirion Biotech Customized stable overexpressing cell line services for OPTN Sirion Biotech Customized inducible overexpressing cell line services for OPTN

In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for OPTN

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Cell Cycle

Cell Cycle

1.00

Cell Cycle, Mitotic

0.84

Clathrin-dependent protein traffic

Clathrin-dependent protein traffic

1.00

Transport_Clathrin-coated vesicle cycle

0.66

Recruitment of mitotic centrosome proteins and complexes

G2/M Transition

0.83

Mitotic G2-G2/M phases

0.81

Regulation of PLK1 Activity at G2/M Transition

Regulation of PLK1 Activity at G2/M Transition

1.00

Pathway sources
See GeneCards unified pathways
Show all pathways

1 EMD Millipore Pathway for OPTN

Clathrin-dependent protein traffic

1 GeneGo (Thomson Reuters) Pathway for OPTN

Transport Clathrin-coated vesicle cycle

5 Reactome Pathways for OPTN

	G2/M Transition
	Cell Cycle
	Mitotic G2-G2/M phases
	Regulation of PLK1 Activity at G2/M Transition
	Cell Cycle, Mitotic

OPTN for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for OPTN

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

5/76 Interacting proteins for OPTN (Q96CV9^{1, 2, 3} ENSP00000263036⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 76)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
TBK1	Q9UHD2¹^,²^,³, ENSP00000329967⁴	EBI-748974,EBI-1383470 MINT-6492491 MINT-6492320 MINT-6492337 MINT-6492467 MINT-6492519 MINT-6492303 MINT-6492427 MINT-6492355 I2D: score=4 STRING: ENSP00000329967
HTT	P42858²^,³, ENSP00000347184⁴	MINT-15358 MINT-15357 I2D: score=4 STRING: ENSP00000347184
CCDC53	Q9Y3C0²^,³, ENSP00000240079⁴	MINT-67405 I2D: score=6 STRING: ENSP00000240079
RNF11	Q9Y3C5²^,³, ENSP00000242719⁴	MINT-60860 I2D: score=3 STRING: ENSP00000242719
CALM1	P62158³	I2D: score=1

About this table

Gene Ontology (GO): 5/7 biological process terms (GO ID links to tree view) (see all 7): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0000042	protein targeting to Golgi	IMP	15837803
GO:0007030	Golgi organization	IMP	15837803
GO:0007165	signal transduction	TAS	9488477
GO:0008219	cell death	IEA	--
GO:0034613	cellular protein localization	--	--

OPTN for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

OPTN for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for OPTN
1 Novoseek chemical compound relationship for OPTN gene About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
dexamethasone	2.04	8	12379221 (2), 18195223 (2), 15277488 (1)

Search CenterWatch for drugs/clinical trials and news about OPTN

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, Sirion Biotech, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for OPTN gene (4 alternative transcripts):

NM_001008211.1 NM_001008212.1 NM_001008213.1 NM_021980.4

Unigene Cluster for OPTN:

Optineurin

Hs.332706 [show with all ESTs]

Unigene Representative Sequence: NM_001008211

12 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000263036 ENST00000378764 ENST00000487935 ENST00000482140 ENST00000378757(uc001ilx.1 uc010qbr.1)

ENST00000430081 ENST00000378752(uc001ily.1) ENST00000378748(uc001ilu.1 uc001ilv.1 uc001ilw.1)

ENST00000378747 ENST00000486862 ENST00000424614 ENST00000469025

miRNA Products:		OriGene 3'-UTR Clone (see all 4): OPTN Browse OriGene MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat OPTN
		8/14 QIAGEN miScript miRNA Assays for microRNAs that regulate OPTN (see all 14):
		hsa-miR-548p hsa-miR-7-2* hsa-miR-26b* hsa-miR-4282 hsa-miR-432 hsa-miR-570 hsa-miR-374c hsa-miR-9

		SwitchGear 3'UTR luciferase reporter plasmid: OPTN 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for OPTN (see all 7) OriGene shRNA RFP: OPTN OriGene siRNA: OPTN
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat OPTN
		Sirion Biotech Custom design and validation of potent shRNA sequences against OPTN

Clone Products:		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for OPTN (see all 6) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for OPTN (see all 4) OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector (see all 4): OPTN (NM_001008211)
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for OPTN
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat OPTN

Primer Products:		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for OPTN Browse OriGene validated miRNA SYBR primer pairs
		SABiosciences RT² qPCR Primer Assay in human, mouse, rat OPTN
		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat OPTN
		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat OPTN

Additional cDNA sequence:

AF049614.1 AF061034.1 AF070533.1 AF420371.1 AF420372.1 AF420373.1 AK055403.1 AK122746.1

AK303715.1 AK316171.1 BC013876.2 BC032762.1

20 DOTS entries:

DT.453277 DT.95278486 DT.99957198 DT.92438460 DT.95278470 DT.95315669 DT.92009436 DT.100879050

DT.100879065 DT.100030808 DT.99939142 DT.100021196 DT.121250130 DT.100879052 DT.121250154 DT.86840784

DT.87013110 DT.95278469 DT.95278473 DT.97844795

24/305 AceView cDNA sequences (see all 305):

AI168158 AW241165 AA400333 BC013876 AA577195 AF420373 CR597026 BE327708

AW439663 CD676203 C01892 F24304 BU623376 BM709706 BQ650013 AI816089

BI828447 CD742649 AW271678 CB155956 BE875862 AI540327 BQ883124 AI125565

GeneLoc Exon Structure

5/12 Alternative Splicing Database (ASD) splice patterns (SP) for OPTN (see all 12) About this scheme

ExUns:	1a	·	1b	^	2a	·	2b	·	2c	·	2d	·	2e	^	3	^	4	^	5	^	6a	·	6b	^	7a	·	7b	^	8	^	9	^	10a	·	10b	·	10c	^	11a	·	11b	^	12a	·	12b	^	13a	·	13b	^	14	^
SP1:															-						-				-								-								-		-				-
SP2:															-										-																-		-				-
SP3:															-				-		-				-																-		-				-
SP4:					-		-		-		-		-		-				-		-				-																-		-				-
SP5:																																															-

ExUns:	15	^	16	^	17a	·	17b	·	17c	^	18a	·	18b	^	19a	·	19b	·	19c
SP1:			-		-
SP2:			-		-
SP3:			-		-
SP4:			-		-
SP5:			-		-

ECgene alternative splicing isoforms for OPTN

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

OPTN expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: GGGCGAGAAC

About this image

OPTN expression in embryonic tissues and stem cells
Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

Stem Cell Differentiation: 1 LifeMap Cell

Name

Category

Cardiomyocyte-like cells (Spontaneous differen...)

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See OPTN Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for OPTN

SOURCE GeneReport for Unigene cluster: Hs.332706

UniProtKB/Swiss-Prot: OPTN_HUMAN, Q96CV9

Tissue specificity: Present in acqueous humor of the eye (at protein level). Highly expressed in trabecular meshwork.

Expressed nonpigmented ciliary epithelium, retina, brain, adrenal cortex, fetus, lymphocyte, fibroblast, skeletal

muscle, heart, liver, brain and placenta

SABiosciences Custom PCR Arrays for OPTN

Primer Products:		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for OPTN Browse OriGene validated miRNA SYBR primer pairs
		SABiosciences RT² qPCR Primer Assay in human, mouse, rat OPTN
		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat OPTN
		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat OPTN

In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for OPTN

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of animals.

Orthologs for OPTN gene from 6/17 species (see all 17) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Optn^{1 , 5}	optineurin^{1, 5}	81.52(n)¹ 79.82(a)¹		2 (3.15 cM)⁵ 71648¹ NM_181848.4¹ NP_862896.1¹ 5020642⁵
chicken (Gallus gallus)	Aves	OPTN¹	optineurin	65.76(n) 60.11(a)		374079 NM_204236.1 NP_989567.1
lizard (Anolis carolinensis)	Reptilia	OPTN⁶	--	57(a)	1 ↔ 1	5(89892771-89907345)
African clawed frog (Xenopus laevis)	Amphibia	Xl.33858²	Xenopus laevis transcribed sequence with weak similarity more	76.31(n)		BJ061130.1
zebrafish (Danio rerio)	Actinopterygii	zgc66386²	hypothetical protein MGC66386	72.47(n)		393496 BC055628.1
fruit fly (Drosophila melanogaster)	Insecta	key⁶	kenny	16(a)	1 → many	2R(20673037-20674932)

ENSEMBL Gene Tree for OPTN (if available)
TreeFam Gene Tree for OPTN (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for OPTN gene

IKBKG²

OPTN for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 10 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs28939688^1,2	C	pathogenic	13151270(+)	`TGACCG/AAGAAC`	8	/K /E	mis¹		2		NA	4
rs11258194^1,2	C,F,A,H	pathogenic	13152400(+)	`TCTAAT/AGGCCT`	8	/K /M	mis¹ ese³		7		NA CSA WA EA EU	6233
rs75654767^1,2	C,F	pathogenic	13178766(+)	`CTGGCG/AGCAAC`	8	/Q /R	mis¹		3		EA NA EU	5991
rs79279469^1,2	F	--	13140541(+)	`CTTACA/CGGCCC`	4	--	us2k¹		1		EA	120
rs145746275^1,2		--	13140548(+)	`GCCCCA/GGGGGG`	4	--	us2k¹		0	--	--	--	--
rs146638443^1,2		--	13140567(+)	`CTGCCA/GATCCC`	4	--	us2k¹		0	--	--	--	--
rs71386152^1,2	C	--	13140711(-)	`AAAAAAAAAAA/- AAAAA`	4	--	us2k¹		1		NA	2
rs61851420^1,2	C,F	--	13140781(+)	`GCATGG/ATCTCG`	4	--	us2k¹		2		NA WA	4
rs181965252^1,2		--	13140785(+)	`GATCTC/TGGCTC`	4	--	us2k¹		0	--	--	--	--
rs186120828^1,2		--	13140841(+)	`CCTCCC/TGAGTA`	4	--	us2k¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for OPTN (13141449 - 13180291 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for OPTN: --
Human Gene Mutation Database (HGMD): OPTN

SABiosciences Cancer Mutation PCR Assays

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing OPTN

DNA2.0 Custom Variant and Variant Library Synthesis for OPTN

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

OPTN for disorders           About GeneDecksing

OMIM gene information: 602432
OMIM disorders: 137760  606657  613435
UniProtKB/Swiss-Prot: OPTN_HUMAN, Q96CV9

Defects in OPTN are the cause of primary open angle glaucoma type 1E (GLC1E) [MIM:137760]. Primary open angle

glaucoma (POAG) is characterized by a specific pattern of optic nerve and visual field defects. The angle of the

anterior chamber of the eye is open, and usually the intraocular pressure is increased. The disease is asymptomatic

until the late stages, by which time significant and irreversible optic nerve damage has already taken place

Defects in OPTN are a cause of susceptibility to normal pressure glaucoma (NPG) [MIM:606657]

Defects in OPTN are the cause of amyotrophic lateral sclerosis type 12 (ALS12) [MIM:613435]. It is a

neurodegenerative disorder affecting upper motor neurons in the brain and lower motor neurons in the brain stem and

spinal cord, resulting in fatal paralysis. Sensory abnormalities are absent. Death usually occurs within 2 to 5 years.

The etiology of amyotrophic lateral sclerosis is likely to be multifactorial, involving both genetic and environmental

factors. The disease is inherited in 5-10% of the cases

20/25 diseases for OPTN (see all 25): About MalaCards

open-angle glaucoma primary open angle glaucoma glaucoma 1, open angle, e glaucoma

angle-closure glaucoma primary angle-closure glaucoma low tension glaucoma neuropathy

optic nerve disease lateral sclerosis ocular hypertension amyotrophic lateral sclerosis

microcoria glaucoma, congenital paget's disease of bone eye disease

polycystic kidney disease eaf kidney disease blindness

4 diseases from the University of Copenhagen DISEASES database for OPTN:

Glaucoma Amyotrophic lateral sclerosis Paget's disease of bone Blindness

10/12 Novoseek disease relationships for OPTN gene (see all 12) About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
primary open angle glaucoma	89.6	19	16205626 (2), 15547491 (2), 16148883 (2), 12920093 (1) (see all 12)
glaucoma open-angle	89.6	53	14597044 (3), 12939304 (2), 18385781 (2), 19096531 (2) (see all 26)
glaucoma	84.9	104	16569640 (4), 17148662 (3), 12789137 (3), 20161783 (3) (see all 44)
glc1a	80.9	2	15646497 (1)
optic neuropathy	69.2	6	12379221 (1), 16569640 (1), 14740994 (1), 15312511 (1)
glaucoma, congenital	64.2	2	12876831 (1), 17361544 (1)
blindness	58.7	4	18485006 (1), 20085643 (1), 17148662 (1)
ocular hypertension	48.9	6	17615537 (1), 16401791 (1)
eye diseases	47.5	2	20085643 (1), 14740994 (1)
aqueous humor	24.1	1	12646749 (1)

Genetic Association Database (GAD): OPTN
Human Genome Epidemiology (HuGE) Navigator: OPTN (35 documents)

Export disorders for OPTN gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
About This Section

PubMed articles for OPTN gene, integrated from 9 sources (see all 182):
(articles sorted by number of sources associating them with OPTN)

Utopia: connect your pdf to the dynamic
world of online information

Analysis of optineurin (OPTN) gene mutations in subjects with and without glaucoma: the blue mountains eye study. (PubMed id 15498064)^{1, 2, 4, 9} Baird P.N....Mitchell P. (2004)
Different optineurin mutation pattern in primary open-angle glaucoma. (PubMed id 12939304)^{1, 2, 4, 9} Leung Y.F.... Pang C.P. (2003)
Adult-onset primary open-angle glaucoma caused by mutations in optineurin. (PubMed id 11834836)^{1, 2, 3, 9} Rezaie T....Sarfarazi M. (2002)
Variants in optineurin gene and their association with tumor necrosis factor-alpha polymorphisms in Japanese patients with glaucoma. (PubMed id 15557444)^{1, 2, 4, 9} Funayama T.... Mashima Y. (2004)
Evaluation of optineurin sequence variations in 1,048 patients with open-angle glaucoma. (PubMed id 14597044)^{1, 2, 4, 9} Alward W.L.M.... Stone E.M. (2003)
Molecular genetic analysis of optineurin gene for primary open-angle and normal tension glaucoma in the Japanese population. (PubMed id 15226658)^{1, 2, 4, 9} Fuse N.... Tamai M. (2004)
Interaction of an adenovirus E3 14.7-kilodalton protein with a novel tumor necrosis factor alpha-inducible cellular protein containing leucine zipper domains. (PubMed id 9488477)^{1, 2, 3} Li Y....Horwitz M.S. (1998)
SNPs and interaction analyses of myocilin, optineurin, and apolipoprotein E in primary open angle glaucoma patients. (PubMed id 16148883)^{1, 4, 9} Fan B.J....Pang C.P. (2005)
Expression of optineurin, a glaucoma-linked gene, is influenced by elevated intraocular pressure. (PubMed id 12379221)^{1, 2, 9} Vittitow J. and Borras T. (2002)
Mutations of optineurin in amyotrophic lateral sclero sis. (PubMed id 20428114)^{1, 2, 9} Maruyama H....Kawakami H. (2010)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section

Entrez Gene: 10133	HGNC: 17142	AceView: OPTN	Ensembl:ENSG00000123240	euGenes: HUgn10133
ECgene: OPTN	H-InvDB: OPTN

(According to HUGE)
About This Section

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for OPTN	Pharmacogenomics, SNPs, Pathways
ATLAS Chromosomes in Cancer entry for OPTN	Genetics and Cytogenetics in Oncology and Haematology
GeneReviews	http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/OPTN

Intellectual Property for OPTN gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

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Patent Information for OPTN gene:
Search GeneIP for patents involving OPTN

GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search

(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, LifeMap BioReagents, and Sirion Biotech, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
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OPTN (Gene Symbol)
Optineurin
FIP2
GLC1E
HYPL
NRP
HIP7
TFIIIA-INTP
Huntingtin Yeast Partner L
Huntingtin-Interacting Protein 7
Huntingtin-Interacting Protein L
NEMO-Related Protein
Optic Neuropathy-Inducing Protein
Transcription Factor IIIA-Interacting Protein
FIP-2
HIP-7
E3-14.7K-Interacting Protein
ALS12
Glaucoma 1, Open Angle, E (Adult-Onset)
Huntingtin Interacting Protein L
Transcrption Factor IIIA-Interacting Protein
Tumor Necrosis Factor Alpha-Inducible Cellular Protein Containing Leucine Zipper Domains
TFIIIA-IntP

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OPTN Gene

optineurin

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