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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 cellula... See more...
Aliases for OPTN Gene
Aliases for OPTN Gene
- TFIIIA-INTP 2 3
- GLC1E 3 4
- HIP-7 3 4
- Tumor Necrosis Factor Alpha-Inducible Cellular Protein Containing Leucine Zipper Domains 3
- Transcrption Factor IIIA-Interacting Protein 3
- Glaucoma 1, Open Angle, E (Adult-Onset) 2
- Huntingtin Interacting Protein L 3
- Nemo-Related Protein 3
- NEMO-Related Protein 4
- TFIIIA-IntP 4
- ALS12 3
- OPTN 5
External Ids for OPTN Gene
- HGNC: 17142
- Entrez Gene: 10133
- Ensembl: ENSG00000123240
- OMIM: 602432
- UniProtKB: Q96CV9
Previous HGNC Symbols for OPTN Gene
- GLC1E
Previous GeneCards Identifiers for OPTN Gene
- GC10P013123
- GC10P013291
- GC10P013145
- GC10P013146
- GC10P013181
- GC10P013055
- GC10P013141
Summaries for OPTN Gene
-
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]
GeneCards Summary for OPTN Gene
OPTN (Optineurin) is a Protein Coding gene. Diseases associated with OPTN include Amyotrophic Lateral Sclerosis 12 and Glaucoma, Primary Open Angle. Among its related pathways are Neuroscience and TBC/RABGAPs. Gene Ontology (GO) annotations related to this gene include identical protein binding and Rab GTPase binding. An important paralog of this gene is IKBKG.
UniProtKB/Swiss-Prot Summary for OPTN Gene
-
Plays an important role in the maintenance of the Golgi complex, in membrane trafficking, in exocytosis, through its interaction with myosin VI and Rab8 (PubMed:27534431). Links myosin VI to the Golgi complex and plays an important role in Golgi ribbon formation (PubMed:27534431). Plays a role in the activation of innate immune response during viral infection. Mechanistically, recruits TBK1 at the Golgi apparatus, promoting its trans-phosphorylation after RLR or TLR3 stimulation (PubMed:27538435). In turn, activated TBK1 phosphorylates its downstream partner IRF3 to produce IFN-beta. Plays a neuroprotective role in the eye and optic nerve. May act by regulating membrane trafficking and cellular morphogenesis via a complex that contains Rab8 and hungtingtin (HD). Mediates the interaction of Rab8 with the probable GTPase-activating protein TBC1D17 during Rab8-mediated endocytic trafficking, such as of transferrin receptor (TFRC/TfR); regulates Rab8 recruitment to tubules emanating from the endocytic recycling compartment. Autophagy receptor that interacts directly with both the cargo to become degraded and an autophagy modifier of the MAP1 LC3 family; targets ubiquitin-coated bacteria (xenophagy), such as cytoplasmic Salmonella enterica, and appears to function in the same pathway as SQSTM1 and CALCOCO2/NDP52.
-
(Microbial infection) May constitute a cellular target for adenovirus E3 14.7 and Bluetongue virus protein NS3 to inhibit innate immune response.
Additional gene information for OPTN Gene
- HGNC(17142)
- Entrez Gene(10133)
- Ensembl(ENSG00000123240)
- OMIM(602432)
- UniProtKB(Q96CV9)
- Open Targets Platform(ENSG00000123240)
- Monarch Initiative
- Search for OPTN at DataMed
- Search for OPTN at HumanCyc
No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for OPTN Gene
Genomics for OPTN Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for OPTN Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around OPTN on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for OPTN
- Top Transcription factor binding sites by QIAGEN in the OPTN gene promoter:
-
- Sp1
Genomic Locations for OPTN Gene
Genomic Locations for OPTN Gene
- chr10:13,099,449-13,138,308
- (GRCh38/hg38)
- Size:
- 38,860 bases
- Orientation:
- Plus strand
- chr10:13,141,449-13,180,291
- (GRCh37/hg19)
- Size:
- 38,843 bases
- Orientation:
- Plus strand
Genomic View for OPTN Gene
Genes around OPTN on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 10p13 by HGNC
- 10p13 by Entrez Gene
- 10p13 by Ensembl
OPTN Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for OPTN Gene
Proteins for OPTN Gene
-
Protein details for OPTN Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q96CV9-OPTN_HUMAN
- Recommended name:
- Optineurin
- Protein Accession:
- Q96CV9
- B3KP00
- D3DRS4
- D3DRS8
- Q5T672
- Q5T673
- Q5T674
- Q5T675
- Q7LDL9
- Q8N562
- Q9UET9
- Q9UEV4
- Q9Y218
Protein attributes for OPTN Gene
- Size:
- 577 amino acids
- Molecular mass:
- 65922 Da
- Quaternary structure:
-
- Self-associates (PubMed:23669351). Interacts with HD, Rab8 (RAB8A and/or RAB8B) (active GTP-bound form), GTF3A, TRAF3, TBK1, MYO6 and TFRC. Binds to linear ubiquitin chains. Interacts with LC3 family members MAP1LC3A, MAP1LC3B, GABARAP, GABARAPL1 and GABARAPL2; OPTN phosphorylation increases the association (at least with MAP1LC3B). Interacts with RAB12; the interaction may be indirect. Interacts with TBK1; this interaction leads to the Golgi localization of TBK1 and its subsequent activation. Interacts with palmitoyltransferase ZDHHC17/HIP14; the interaction does not lead to palmitoylation of OPTN (PubMed:24705354).
- (Microbial infection) Interacts with E3 14.7 kDa protein of group C human adenovirus (PubMed:9488477). Interacts with Bluetongue virus protein NS3 (PubMed:27538435).
Three dimensional structures from OCA and Proteopedia for OPTN Gene
Protein Expression for OPTN Gene
Post-translational modifications for OPTN Gene
- Phosphorylated by TBK1, leading to restrict bacterial proliferation in case of infection. Phosphorylation is induced by phorbol esters and decreases its half-time.
-
Ubiquitination at Lys448
- NX_Q96CV9 (NX_Q96CV9-1)
- Modification sites at PhosphoSitePlus
Other Protein References for OPTN Gene
Antibody Products
- LifeSpan BioSciences OPTN / Optineurin Antibody (LS-B2096) and OPTN / Optineurin Antibody (LS-B3065)
- G Biosciences Immunotag™ OPTN Antibody
- NSJ Bioreagents Optineurin Antibody
-
Custom Antibody ServicesOriGene Antibodies for OPTN
- Novus Biologicals Antibodies for OPTN
-
Abcam antibodies for OPTN
- Invitrogen Antibodies for OPTN (AFLGC-OPTN)
- antibodies-online: Show 26 available OPTN Antibodies ranked by validation data
- Compare Top OPTN Antibodies
-
Recommended
- 76 WB Antibodies (anti-human)
- 12 IF (p) Antibodies (anti-human)
- 3 IHC (p) Antibodies (anti-human)
- 2 IHC Antibodies (anti-human)
- 2 IP Antibodies (anti-human)
- 19 WB Antibodies (anti-rat)
- 2 IHC Antibodies (anti-rat)
- 1 IF (p) Antibody (anti-rat)
- 28 WB Antibodies (anti-mouse)
- 12 IF (p) Antibodies (anti-mouse)
- 3 IHC (p) Antibodies (anti-mouse)
- 2 IHC Antibodies (anti-mouse)
-
Santa Cruz Biotechnology (SCBT) Antibodies for OPTN
- Sino Biological Antibodies for OPTN
Protein Products
- Search Origene for MassSpec and Protein Over-expression Lysates for OPTN
- Origene Custom Protein Services for OPTN
- Sino Biological Cell Lysates for OPTN
- Sino Biological Recombinant Proteins for OPTN
-
Abcam proteins for OPTN
Assay Products
-
Signalway ELISA kits for OPTN
No data available for DME Specific Peptides for OPTN Gene
Domains & Families for OPTN Gene
Gene Families for OPTN Gene
- Human Protein Atlas (HPA):
-
- Disease related genes
- Predicted intracellular proteins
Protein Domains for OPTN Gene
- InterPro:
- ProtoNet:
Suggested Antigen Peptide Sequences for OPTN Gene
- GenScript: Design optimal peptide antigens:
-
- Transcription factor IIIA-interacting protein (OPTN_HUMAN)
Graphical View of Domain Structure for InterPro Entry
Q96CV9UniProtKB/Swiss-Prot:
OPTN_HUMAN :- Ubiquitin-binding motif (UBAN) is essential for its inhibitory function, subcellular localization and interaction with TBK1.
- Domain:
-
- Ubiquitin-binding motif (UBAN) is essential for its inhibitory function, subcellular localization and interaction with TBK1.
- The LIR (LC3-interacting region) motif mediates the interaction with ATG8 family proteins.
Function for OPTN Gene
Molecular function for OPTN Gene
- UniProtKB/Swiss-Prot 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 (PubMed:27534431). Links myosin VI to the Golgi complex and plays an important role in Golgi ribbon formation (PubMed:27534431). Plays a role in the activation of innate immune response during viral infection. Mechanistically, recruits TBK1 at the Golgi apparatus, promoting its trans-phosphorylation after RLR or TLR3 stimulation (PubMed:27538435). In turn, activated TBK1 phosphorylates its downstream partner IRF3 to produce IFN-beta. Plays a neuroprotective role in the eye and optic nerve. May act by regulating membrane trafficking and cellular morphogenesis via a complex that contains Rab8 and hungtingtin (HD). Mediates the interaction of Rab8 with the probable GTPase-activating protein TBC1D17 during Rab8-mediated endocytic trafficking, such as of transferrin receptor (TFRC/TfR); regulates Rab8 recruitment to tubules emanating from the endocytic recycling compartment. Autophagy receptor that interacts directly with both the cargo to become degraded and an autophagy modifier of the MAP1 LC3 family; targets ubiquitin-coated bacteria (xenophagy), such as cytoplasmic Salmonella enterica, and appears to function in the same pathway as SQSTM1 and CALCOCO2/NDP52.
- UniProtKB/Swiss-Prot Function:
- (Microbial infection) May constitute a cellular target for adenovirus E3 14.7 and Bluetongue virus protein NS3 to inhibit innate immune response.
- UniProtKB/Swiss-Prot Induction:
- Upon TNF and interferon treatments. Up-regulated in direct response to viral infection.
Phenotypes From GWAS Catalog for OPTN Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005515 | protein binding | IPI | 15837803 |
| GO:0008022 | protein C-terminus binding | IPI | 15837803 |
| GO:0017137 | Rab GTPase binding | IPI | 17646400 |
| GO:0030674 | protein binding, bridging | IPI | 25803835 |
| GO:0031593 | polyubiquitin modification-dependent protein binding | IDA | 21617041 |
Phenotypes for OPTN Gene
- MGI mutant phenotypes for OPTN:
- inferred from 3 alleles
- GenomeRNAi human phenotypes for OPTN:
-
- Increased vaccinia virus (VACV) infection
- Mildly decreased CFP-tsO45G cell surface transport
- no effect
- Decreased viability
- Increased gamma-H2AX phosphorylation
- Decreased Salmonella enterica Typhimurium invasion
- Inconclusive
- Decreased viability after Maraba virus infection
- Synthetic lethal with vaccinia virus (VACV) infection
- Synthetic lethal with c-Myc after tamoxifen stimulation
Animal Models for OPTN Gene
- MGI Knock Outs for OPTN:
-
- Optn Optn<tm1a(EUCOMM)Wtsi>
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for OPTN - Select products 50% OFF >
- * OPTN CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for OPTN
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for OPTN
-
Santa Cruz Biotechnology (SCBT) CRISPR for OPTN
miRNA for OPTN Gene
- miRTarBase miRNAs that target OPTN
-
- hsa-miR-335-5p (MIRT019128)
- hsa-miR-9-5p (MIRT021455)
- hsa-miR-92a-3p (MIRT049818)
- hsa-miR-17-3p (MIRT050771)
- hsa-miR-17-5p (MIRT050845)
- hsa-miR-5698 (MIRT625689)
- hsa-miR-143-5p (MIRT625690)
- hsa-miR-6879-3p (MIRT625691)
- hsa-miR-4430 (MIRT625692)
- hsa-miR-3652 (MIRT625693)
- hsa-miR-122-5p (MIRT625694)
- hsa-miR-504-3p (MIRT625695)
- hsa-miR-3135b (MIRT625696)
- hsa-miR-6499-3p (MIRT625697)
- hsa-miR-215-3p (MIRT625698)
- hsa-miR-6773-3p (MIRT625699)
- hsa-miR-4638-5p (MIRT625700)
- hsa-miR-1307-3p (MIRT625701)
- hsa-miR-6741-3p (MIRT625702)
- hsa-miR-2276-5p (MIRT625703)
- hsa-miR-500b-3p (MIRT625704)
- hsa-miR-4279 (MIRT639296)
- hsa-miR-6868-3p (MIRT639297)
- hsa-miR-1248 (MIRT639298)
- hsa-miR-1237-3p (MIRT639299)
- hsa-miR-3667-3p (MIRT639300)
- hsa-miR-6734-3p (MIRT639301)
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for OPTN
- Browse OriGene Inhibitory RNA Products For OPTN
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for OPTN
Clone Products
- Applied Biological Materials (abm): Clones for OPTN - Select products 50% OFF >
- * OPTN as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
- MG209132
- MR209132
- MR209132L3
- MR209132L4
- RC202470
- RC202470L1
- RC202470L2
- RC202470L3
- RC202470L4
- RC213804
- RC213804L3
- RC213804L4
- RC221792
- RC221792L3
- RC221792L4
- RC221836
- RC221836L3
- RC221836L4
- RG202470
- RG213804
- RG221792
- RG221836
- RR213190
- RR213190L3
- RR213190L4
- MR209132L3V
- MR209132L4V
- RC202470L1V
- RC202470L2V
- RC202470L3V
- RC202470L4V
- RC213804L3V
- RC213804L4V
- RC221792L3V
- RC221792L4V
- RC221836L3V
- RC221836L4V
- RR213190L3V
- RR213190L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for OPTN
- Addgene plasmids for OPTN
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for OPTN
Cell Line Products
-
Horizon Cell Lines for OPTN
No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for OPTN Gene
Localization for OPTN Gene
Subcellular locations from UniProtKB/Swiss-Prot for OPTN Gene
- Cytoplasm, perinuclear region. Golgi apparatus. Golgi apparatus, trans-Golgi network. Cytoplasmic vesicle, autophagosome. Cytoplasmic vesicle. Recycling endosome. Note=Found in the perinuclear region and associates with the Golgi apparatus (PubMed:27534431). Colocalizes with MYO6 and RAB8 at the Golgi complex and in vesicular structures close to the plasma membrane. Localizes to LC3-positive cytoplasmic vesicles upon induction of autophagy. {ECO:0000269 PubMed:27534431}.
| Compartment | Confidence |
|---|---|
| nucleus | 5 |
| endosome | 5 |
| cytosol | 5 |
| golgi apparatus | 5 |
| mitochondrion | 3 |
| lysosome | 3 |
| plasma membrane | 2 |
| extracellular | 2 |
| cytoskeleton | 2 |
| peroxisome | 2 |
| endoplasmic reticulum | 2 |
- Cytosol (4)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000139 | Golgi membrane | TAS | -- |
| GO:0005634 | nucleus | IBA | 21873635 |
| GO:0005654 | nucleoplasm | TAS | -- |
| GO:0005737 | cytoplasm | TAS,IBA | 21873635 |
| GO:0005768 | endosome | IEA | -- |
Pathways & Interactions for OPTN Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Regulation of PLK1 Activity at G2/M Transition |
.50
|
|
| 2 | Cell Cycle, Mitotic |
.83
|
|
| 3 | Vesicle-mediated transport | ||
| 4 | Neuroscience | ||
| 5 | Mitophagy - animal | ||
Pathways by source for OPTN Gene
8 Reactome pathways for OPTN Gene
1 KEGG pathway for OPTN Gene
1 GeneGo (Thomson Reuters) pathway for OPTN Gene
- Transport Clathrin-coated vesicle cycle
1 Cell Signaling Technology pathway for OPTN Gene
Interacting Proteins for OPTN Gene
Selected Interacting proteins:
Q96CV9-OPTN_HUMAN
ENSP00000368022
for OPTN Gene via
UniProtKB
MINT
STRING
IID
GPS-Prot Interaction Network for OPTN
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000086 | G2/M transition of mitotic cell cycle | TAS | -- |
| GO:0001920 | negative regulation of receptor recycling | IMP | 22854040 |
| GO:0002376 | immune system process | IEA | -- |
| GO:0006914 | autophagy | IEA | -- |
| GO:0007030 | Golgi organization | IMP | 15837803 |
Transcripts for OPTN Gene
mRNA/cDNA for OPTN Gene
- 4 REFSEQ mRNAs :
- 16 NCBI additional mRNA sequence :
- 12 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000263036 2464 nts (view in UCSC)
- ENST00000378747 3479 nts (view in UCSC)
- ENST00000378748 3521 nts (view in UCSC)
- ENST00000378752 3488 nts (view in UCSC)
- ENST00000378757 3321 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for OPTN - Select products 50% OFF >
- * OPTN CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for OPTN
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for OPTN
-
Santa Cruz Biotechnology (SCBT) CRISPR for OPTN
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for OPTN
- Browse OriGene Inhibitory RNA Products For OPTN
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for OPTN
Clone Products
- Applied Biological Materials (abm): Clones for OPTN - Select products 50% OFF >
- * OPTN as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
- MG209132
- MR209132
- MR209132L3
- MR209132L4
- RC202470
- RC202470L1
- RC202470L2
- RC202470L3
- RC202470L4
- RC213804
- RC213804L3
- RC213804L4
- RC221792
- RC221792L3
- RC221792L4
- RC221836
- RC221836L3
- RC221836L4
- RG202470
- RG213804
- RG221792
- RG221836
- RR213190
- RR213190L3
- RR213190L4
- MR209132L3V
- MR209132L4V
- RC202470L1V
- RC202470L2V
- RC202470L3V
- RC202470L4V
- RC213804L3V
- RC213804L4V
- RC221792L3V
- RC221792L4V
- RC221836L3V
- RC221836L4V
- RR213190L3V
- RR213190L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for OPTN
- Addgene plasmids for OPTN
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for OPTN
| 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: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
| SP6: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP7: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP8: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP9: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP10: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP11: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
| SP12: |
| ExUns: | 15 | ^ | 16 | ^ | 17a | · | 17b | · | 17c | ^ | 18a | · | 18b | ^ | 19a | · | 19b | · | 19c |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | - | |||||||||||||||||
| SP2: | - | - | |||||||||||||||||
| SP3: | - | - | |||||||||||||||||
| SP4: | - | - | |||||||||||||||||
| SP5: | - | - | |||||||||||||||||
| SP6: | - | - | |||||||||||||||||
| SP7: | - | ||||||||||||||||||
| SP8: | |||||||||||||||||||
| SP9: | |||||||||||||||||||
| SP10: | |||||||||||||||||||
| SP11: | |||||||||||||||||||
| SP12: |
Relevant External Links for OPTN Gene
- GeneLoc Exon Structure for
- OPTN
Expression for OPTN Gene
mRNA differential expression in normal tissues according to GTEx for OPTN Gene
This gene is overexpressed in Muscle - Skeletal (x11.5).
This gene is overexpressed in Synovial fluid (15.9), Lymph node (14.4), and Peripheral blood mononuclear cells (6.7).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for OPTN Gene
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for OPTN
SOURCE GeneReport for Unigene cluster for OPTN Gene:
Hs.332706mRNA Expression by UniProt/SwissProt for OPTN Gene:
Q96CV9-OPTN_HUMAN
Tissue specificity:
Present in aqueous 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.
Evidence on tissue expression from TISSUES for OPTN Gene
- Nervous system(4.9)
- Liver(4.7)
- Skin(4.6)
- Eye(4.6)
- Muscle(3.7)
- Kidney(3.6)
- Heart(3.5)
- Lung(3.2)
- Blood(2.8)
- Spleen(2.8)
- Intestine(2.7)
- Pancreas(2.6)
- Adrenal gland(2.6)
- Lymph node(2.5)
- Bone marrow(2.3)
- Stomach(2.3)
Phenotype-based relationships between genes and organs from Gene ORGANizer for OPTN Gene
Germ Layers:
- ectoderm
- endoderm
- mesoderm
Systems:
- cardiovascular
- digestive
- nervous
- respiratory
- skeletal muscle
- skeleton
Regions:
Head and neck:
- brain
- cerebellum
- cranial nerve
- ear
- epiglottis
- eye
- face
- head
- jaw
- larynx
- mandible
- maxilla
- mouth
- neck
- nose
- pharynx
- skull
- tongue
- vocal cord
Thorax:
- bronchus
- clavicle
- esophagus
- heart
- lung
- scapula
- trachea
Abdomen:
- biliary tract
- liver
- stomach
Limb:
- arm
- digit
- finger
- foot
- forearm
- hand
- humerus
- lower limb
- shin
- shoulder
- thigh
- toe
- upper limb
General:
- blood vessel
- peripheral nerve
- peripheral nervous system
- spinal cord
Primer Products
-
OriGene qPCR primer pairs for OPTN
-
OriGene qPCR primer pairs and template standards for OPTN
Gene Expression Assay Products
No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery for OPTN Gene
Orthologs for OPTN Gene
This gene was present in the common ancestor of chordates.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | OPTN 30 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | OPTN 30 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | OPTN 30 31 |
|
OneToOne | |
| Mouse (Mus musculus) |
Mammalia | Optn 30 17 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Optn 30 |
|
||
| Platypus (Ornithorhynchus anatinus) |
Mammalia | OPTN 31 |
|
OneToOne | |
| Oppossum (Monodelphis domestica) |
Mammalia | OPTN 31 |
|
OneToOne | |
| Chicken (Gallus gallus) |
Aves | OPTN 30 31 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | OPTN 31 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | optn 30 |
|
||
| African clawed frog (Xenopus laevis) |
Amphibia | Xl.33858 30 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | optn 30 31 |
|
OneToOne | |
| zgc66386 30 |
|
- Species where no ortholog for OPTN was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African malaria mosquito (Anopheles gambiae)
- Alicante grape (Vitis vinifera)
- Alpha proteobacteria (Wolbachia pipientis)
- Amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- Baker's yeast (Saccharomyces cerevisiae)
- Barley (Hordeum vulgare)
- Beta proteobacteria (Neisseria meningitidis)
- Bread mold (Neurospora crassa)
- Chromalveolata (Phytophthora infestans)
- Common water flea (Daphnia pulex)
- Corn (Zea mays)
- E. coli (Escherichia coli)
- Filamentous fungi (Aspergillus nidulans)
- Firmicute Bacteria (Streptococcus pneumoniae)
- Fission Yeast (Schizosaccharomyces pombe)
- Fruit Fly (Drosophila melanogaster)
- Green Algae (Chlamydomonas reinhardtii)
- Honey Bee (Apis mellifera)
- K. Lactis Yeast (Kluyveromyces lactis)
- Loblloly Pine (Pinus taeda)
- Malaria Parasite (Plasmodium falciparum)
- Medicago Trunc (Medicago Truncatula)
- Moss (Physcomitrella patens)
- Orangutan (Pongo pygmaeus)
- Pig (Sus scrofa)
- Rainbow Trout (Oncorhynchus mykiss)
- Rice (Oryza sativa)
- Rice Blast Fungus (Magnaporthe grisea)
- Schistosome Parasite (Schistosoma mansoni)
- Sea Anemone (Nematostella vectensis)
- Sea Vase (Ciona intestinalis)
- Sea Squirt (Ciona savignyi)
- Sea Urchin (Strongylocentrotus purpuratus)
- Sorghum (Sorghum bicolor)
- Soybean (Glycine max)
- Stem Rust Fungus (Puccinia graminis)
- Sugarcane (Saccharum officinarum)
- Thale Cress (Arabidopsis thaliana)
- Tomato (Lycopersicon esculentum)
- Toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- Wheat (Triticum aestivum)
- Worm (Caenorhabditis elegans)
Evolution for OPTN Gene
- ENSEMBL:
- Gene Tree for OPTN (if available)
- TreeFam:
- Gene Tree for OPTN (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for OPTN: view image
Paralogs for OPTN Gene
Variants for OPTN Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for OPTN Gene
| SNP ID | Clinical significance and condition | Chr 10 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| 647662 | Pathogenic: Primary open angle glaucoma; Amyotrophic lateral sclerosis type 12; Glaucoma 1, open angle, e | 13,112,464(+) | T/TAG | FRAMESHIFT_VARIANT | |
| 650247 | Uncertain Significance: Primary open angle glaucoma; Amyotrophic lateral sclerosis type 12; Glaucoma 1, open angle, e | 13,132,064(+) | C/G | INTRON_VARIANT | |
| 651429 | Uncertain Significance: Primary open angle glaucoma; Amyotrophic lateral sclerosis type 12; Glaucoma 1, open angle, e | 13,112,486(+) | G/A | MISSENSE_VARIANT | |
| 703420 | Benign: Primary open angle glaucoma; Amyotrophic lateral sclerosis type 12; Glaucoma 1, open angle, e; not provided | 13,124,076(+) | G/A | MISSENSE_VARIANT | |
| 703912 | Benign/Likely Benign: Primary open angle glaucoma; Amyotrophic lateral sclerosis type 12; Glaucoma 1, open angle, e | 13,109,269(+) | C/T | SYNONYMOUS_VARIANT |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| dgv368n106 | CNV | deletion | 24896259 |
| esv2762845 | CNV | loss | 21179565 |
| esv3545920 | CNV | deletion | 23714750 |
| nsv1068279 | CNV | deletion | 25765185 |
| nsv947740 | CNV | duplication | 23825009 |
| nsv957029 | CNV | deletion | 24416366 |
Residual Variation Intolerance Score:
8.56% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
3.91;
59.36% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for OPTN Gene
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for OPTN Gene
Disorders for OPTN Gene
(40) MalaCards diseases for OPTN Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| amyotrophic lateral sclerosis 12 |
|
|
| glaucoma, primary open angle |
|
|
| glaucoma, normal tension |
|
|
| amyotrophic lateral sclerosis 1 |
|
|
| open-angle glaucoma |
|
Search OPTN in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
OPTN_HUMAN- Glaucoma 1, open angle, E (GLC1E) [MIM:137760]: A form of primary open angle glaucoma (POAG). 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. However, glaucoma can occur at any intraocular pressure. The disease is generally asymptomatic until the late stages, by which time significant and irreversible optic nerve damage has already taken place. {ECO:0000269 PubMed:11834836, ECO:0000269 PubMed:12939304, ECO:0000269 PubMed:14597044, ECO:0000269 PubMed:15226658, ECO:0000269 PubMed:15326130, ECO:0000269 PubMed:15557444, ECO:0000269 PubMed:17389490, ECO:0000269 PubMed:20085643, ECO:0000269 PubMed:22854040, ECO:0000269 PubMed:23669351, ECO:0000269 PubMed:24752605}. Note=The disease is caused by mutations affecting the gene represented in this entry.
- Glaucoma, normal pressure (NPG) [MIM:606657]: A primary glaucoma characterized by intraocular pression consistently within the statistically normal population range. {ECO:0000269 PubMed:15370540}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.
- Amyotrophic lateral sclerosis 12 (ALS12) [MIM:613435]: 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. The pathologic hallmarks of the disease include pallor of the corticospinal tract due to loss of motor neurons, presence of ubiquitin-positive inclusions within surviving motor neurons, and deposition of pathologic aggregates. 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. {ECO:0000269 PubMed:20428114, ECO:0000269 PubMed:27534431}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Additional Disease Information for OPTN
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
No data available for Genatlas for OPTN Gene
Publications for OPTN Gene
- Molecular genetic analysis of optineurin gene for primary open-angle and normal tension glaucoma in the Japanese population. (PMID: 15226658) Fuse N … Tamai M (Journal of glaucoma 2004) 3 4 23 41
- Variants in optineurin gene and their association with tumor necrosis factor-alpha polymorphisms in Japanese patients with glaucoma. (PMID: 15557444) Funayama T … Mashima Y (Investigative ophthalmology & visual science 2004) 3 4 23 41
- Analysis of optineurin (OPTN) gene mutations in subjects with and without glaucoma: the Blue Mountains Eye Study. (PMID: 15498064) Baird PN … Mitchell P (Clinical & experimental ophthalmology 2004) 3 4 23 41
- Different optineurin mutation pattern in primary open-angle glaucoma. (PMID: 12939304) Leung YF … Pang CP (Investigative ophthalmology & visual science 2003) 3 4 23 41
- Evaluation of optineurin sequence variations in 1,048 patients with open-angle glaucoma. (PMID: 14597044) Alward WL … Stone EM (American journal of ophthalmology 2003) 3 4 23 41
ExternalLinks
Products for OPTN Gene
- Custom Antibody ServicesOriGene Antibodies for OPTN
- Browse OriGene ELISA Kits
- Custom Assay Services
- Search Origene for MassSpec and Protein Over-expression Lysates for OPTN
- Origene Custom Protein Services for OPTN
- Origene shrna, sirna, and RNAi products in human, mouse, rat for OPTN
- Browse OriGene Inhibitory RNA Products For OPTN
- OriGene qPCR primer pairs for OPTN
- OriGene qPCR primer pairs and template standards for OPTN
- OriGene CRISPR knockouts for OPTN
- MG209132
- MR209132
- MR209132L3
- MR209132L4
- RC202470
- RC202470L1
- RC202470L2
- RC202470L3
- RC202470L4
- RC213804
- RC213804L3
- RC213804L4
- RC221792
- RC221792L3
- RC221792L4
- RC221836
- RC221836L3
- RC221836L4
- RG202470
- RG213804
- RG221792
- RG221836
- RR213190
- RR213190L3
- RR213190L4
- MR209132L3V
- MR209132L4V
- RC202470L1V
- RC202470L2V
- RC202470L3V
- RC202470L4V
- RC213804L3V
- RC213804L4V
- RC221792L3V
- RC221792L4V
- RC221836L3V
- RC221836L4V
- RR213190L3V
- RR213190L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Browse OriGene miRNA Products For OPTN
- Sino Biological Human cDNA Clone for OPTN
- Sino Biological Cell Lysates for OPTN
- Sino Biological Recombinant Proteins for OPTN
- Sino Biological Antibodies for OPTN
- Browse Sino Biological Assays
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- Novus Biologicals proteins and lysates for OPTN
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- Invitrogen Antibodies for OPTN (AFLGC-OPTN)
- VectorBuilder Custom and pre-made DNA vectors for OPTN (ie. gene expression, shRNA knockdown, CRISPR)
- VectorBuilder Viral vectors for OPTN (ie. lentivirus, AAV, adenovirus)
- VectorBuilder CRISPR vectors for OPTN (ie. knockout, knockin, CRISPRa, CRISPRi)
- VectorBuilder Virus packaging for OPTN CRISPR vectors (ie. lentivirus, AAV, adenovirus)
- VectorBuilder Stable cell line generation for OPTN
- Addgene plasmids for OPTN
- antibodies-online: Show 26 available OPTN Antibodies ranked by validation data
- Compare Top OPTN Antibodies
- Recommended
- 76 WB Antibodies (anti-human)
- 12 IF (p) Antibodies (anti-human)
- 3 IHC (p) Antibodies (anti-human)
- 2 IHC Antibodies (anti-human)
- 2 IP Antibodies (anti-human)
- 19 WB Antibodies (anti-rat)
- 2 IHC Antibodies (anti-rat)
- 1 IF (p) Antibody (anti-rat)
- 28 WB Antibodies (anti-mouse)
- 12 IF (p) Antibodies (anti-mouse)
- 3 IHC (p) Antibodies (anti-mouse)
- 2 IHC Antibodies (anti-mouse)
- antibodies-online: Show 17 available OPTN Elisa Kits ranked by validation data
- Compare Top OPTN Elisa Kits
- antibodies-online: Show 9 available OPTN Proteins ranked by validation data
- Compare Top OPTN Proteins
- Santa Cruz Biotechnology (SCBT) Antibodies for OPTN
- Search Santa Cruz Biotechnology (SCBT) for OPTN siRNA/shRNA
- Santa Cruz Biotechnology (SCBT) CRISPR for OPTN
- Horizon Cell Lines for OPTN
- Browse GeneCopoeia Cell Lines
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for OPTN
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for OPTN
- Search GeneCopoeia for miRNA 3'UTR Target clone products for OPTN
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for OPTN
Sources for OPTN Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) Cell Signaling Technology
- (12) GO
- (13) UniProtKB/TrEMBL
- (14) InterPro
- (15) ProtoNet
- (16) Blocks
- (17) MGI
- (18) IUBMB
- (19) KEGG
- (20) MINT
- (21) STRING
- (22) IntAct
- (23) Novoseek
- (24) PharmGKB
- (25) DrugBank
- (26) HMDB
- (27) ASD
- (28) SAGE
- (29) SOURCE
- (30) HomoloGene
- (31) PanEnsembl
- (32) euGenes
- (33) SGD
- (34) FlyBase
- (35) WormBase
- (36) Pseudogene
- (37) DGV
- (38) dbSNP
- (39) GenAtlas
- (40) HGMD
- (41) GAD
- (42) BGMUT
- (43) HuGE
- (44) Atlas
- (45) GenBank
- (46) HORDE
- (47) HUGE
- (48) IMGT
- (49) Leiden
- (50) miRBase
- (51) DME
- (52) OriGene
- (53) PubMed
- (54) R&D Systems
- (55) TGDB
- (56) Tocris
- (57) Abcam
- (58) Novus Biologicals
- (59) ProSpec
- (60) Sino Biological
- (61) GenScript
- (62) Qiagen
- (63) OCA
- (64) Proteopedia
- (65) MOPED
- (66) neXtProt
- (67) Reactome
- (68) GeneGo (Thomson Reuters)
- (69) DISEASES
- (70) SIMAP
- (71) GenomeRNAi
- (72) LifeMap
- (73) miRTarBase
- (74) MalaCards
- (75) Invitrogen
- (76) BitterDB
- (77) ESI-BIO
- (78) RefSeq
- (79) BioSystems
- (80) MaxQB
- (81) IUPHAR
- (82) BioGPS
- (83) Illumina
- (84) COMPARTMENTS
- (85) HOMER
- (86) PaxDb
- (87) ApexBio
- (88) Addgene
- (89) antibodies-online
- (90) CYP
- (91) NONCODE
- (92) TreeFam
- (93) PathCards
- (94) GeneReviews
- (95) GeneTex
- (96) Taconic Biosciences
- (97) GTEx
- (98) ProteomicsDB
- (99) SCBT
- (100) DGIdb
- (101) ClinicalTrials
- (102) RVIS
- (103) SIGNOR
- (104) diseasecard
- (105) NIH Rare Diseases
- (106) Orphanet
- (107) UMLS
- (108) GTR
- (109) Disease Ontology
- (110) Genetics Home Reference
- (111) MeSH
- (112) MedlinePlus
- (113) CDC
- (114) NINDS
- (115) NCBI Bookshelf
- (116) ClinVar
- (117) Gene Damage Index
- (118) HPO
- (119) UDN
- (120) VISTA
- (121) FANTOM5
- (122) ENCODE
- (123) ProSci
- (124) Horizon
- (125) The Signaling Pathways Project (SPP)
- (126) IID
- (127) VectorBuilder
- (128) SNPedia
- (129) BRCA Exchange
- (130) CIViC
- (131) ProteoGenix
- (132) dbSUPER
- (133) TISSUES
- (134) Gene ORGANizer
- (135) abm
- (136) Human Protein Atlas
- (137) GWAS Catalog
- (138) Monarch Initiative
- (139) DataMed
- (140) HumanCyc
- (141) UCNEbase
- (142) EPDnew
- (143) Applied Biosystems
- (144) GlyConnect
- (145) Aminode
- (146) GeneCopoeia
- (147) GPS-Prot
- (148) RNACentral
- (149) LncRNADisease
- (150) LOVD
- (151) miR2Disease
- (152) DiseaseEnhancer
- (153) Boster Bio
- (154) Biorbyt
- (155) Biocompare
- (156) Mastermind
- (157) CTD^2 Dashboard
- (158) CraniofacialAtlas
- (159) GeneImprint
- (160) Synthego
- (161) ENA
- (162) GtRNAdb
- (163) LncBase
- (164) LncBook
- (165) LNCipedia
- (166) Modomics
- (167) PDBe
- (168) Rfam
- (169) SILVA
- (170) snOPY
- (171) SRPDB
- (172) GENCODE
- (173) TarBase
- (174) Signalway Antibody
- (175) Open Targets Platform
- (176) 5SRRNADB
- (177) snoDB
- (178) MirGeneDB