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OPTN Gene

protein-coding   GIFtS: 65
GCID: GC10P013141

Optineurin

(Previous names: glaucoma 1, open angle, E (adult-onset))
(Previous symbol: GLC1E)
  See OPTN-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
optineurin1 2     FIP-22 3
GLC1E1 2 3 5     HIP-72 3
FIP22 3 5     HIP72 3
HYPL2 3 5     E3-14.7K-Interacting Protein2 3
NRP2 3 5     ALS122 5
Huntingtin Yeast Partner L2 3     Glaucoma 1, Open Angle, E (Adult-Onset)1
Huntingtin-Interacting Protein 72 3     TFIIIA-INTP2
Huntingtin-Interacting Protein L2 3     Huntingtin Interacting Protein L2
NEMO-Related Protein2 3     Transcrption Factor IIIA-Interacting Protein2
Optic Neuropathy-Inducing Protein2 3     Tumor Necrosis Factor Alpha-Inducible Cellular Protein Containing Leucine
Zipper Domains2
Transcription Factor IIIA-Interacting 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 GC10P013055


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary 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 optn-related amyotrophic lateral sclerosis, and glaucoma. GO annotations related to this gene include protein C-terminus binding. An important paralog of this gene is IKBKG.

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) Gene


(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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000010.10  NT_008705.17  NC_018921.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the OPTN gene promoter:
         Sp1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidOPTN promoter sequence
   Search Chromatin IP Primers for OPTN

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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 GC10P013141:  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, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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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
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;
4 PDB 3D structures from and Proteopedia for OPTN:
2LO4 (3D)        2LUE (3D)        3VTV (3D)        3VTW (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

Explore proteomics data for OPTN at MOPED

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
  • Ubiquitination2 at Lys448
  • Modification sites at PhosphoSitePlus

  • See OPTN Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    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

    OPTN Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
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    Browse recombinant and purified proteins available from Enzo Life Sciences
    OriGene Purified Protein for OPTN
    OriGene Protein Over-expression Lysate for OPTN
    OriGene MassSpec for OPTN
    OriGene Custom Protein Services for OPTN
    GenScript Custom Purified and Recombinant Proteins Services for OPTN
    Novus Biologicals OPTN Proteins
    Novus Biologicals OPTN Lysates
    Sino Biological Recombinant Protein for OPTN
    Sino Biological Cell Lysate for OPTN
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for OPTN

     
    Search eBioscience for Proteins for OPTN 

     
    antibodies-online proteins for OPTN (2 products) 

     
    antibodies-online peptides for OPTN

    OPTN Antibody Products:

    EMD Millipore Mono- and Polyclonal Antibodies for the study of OPTN
    Browse R&D Systems for Antibodies
    OriGene Antibodies for OPTN
    OriGene Custom Antibody Services for OPTN
    Novus Biologicals OPTN Antibodies
    Abcam antibodies for OPTN
    Cloud-Clone Corp. Antibodies for OPTN
    ThermoFisher Antibody for OPTN
    antibodies-online antibodies for OPTN (41 products) 

    OPTN Assay Products:

    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for OPTN
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for OPTN
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for OPTN
    Cloud-Clone Corp. CLIAs for OPTN
    Search eBioscience for ELISAs for OPTN 
    antibodies-online kits for OPTN (13 products) 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    1 InterPro protein domain:
     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


    Find genes that share domains with OPTN           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    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:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI15837803
    GO:0008022protein C-terminus binding IPI15837803
         
    Find genes that share ontologies with OPTN           About GenesLikeMe


    Phenotypes:
         3 GenomeRNAi human phenotypes for OPTN:
     Decreased Salmonella enterica   Increased gamma-H2AX phosphory  Synthetic lethal with c-Myc af 

    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for OPTN

    miRNA
    Products:
        
    miRTarBase miRNAs that target OPTN:
    hsa-mir-335-5p (MIRT019128), hsa-mir-92a-3p (MIRT049818), hsa-mir-9-5p (MIRT021455), hsa-mir-17-5p (MIRT050845), hsa-mir-17-3p (MIRT050771)

    Block miRNA regulation of human, mouse, rat OPTN using miScript Target Protectors
    Selected qRT-PCR 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 plasmidOPTN 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for OPTN
    Predesigned siRNA for gene silencing in human, mouse, rat OPTN

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for OPTN

    Clone
    Products:
         
    OriGene clones in human, mouse for OPTN (see all 24)
    OriGene ORF clones in mouse, rat for OPTN
    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)
    Sino Biological Human cDNA Clone for OPTN
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for OPTN
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat OPTN
    Addgene plasmids for OPTN 

    Cell Line
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    GenScript Custom overexpressing Cell Line Services for OPTN
    Browse ESI BIO Cell Lines and PureStem Progenitors for OPTN 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for OPTN


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    OPTN_HUMAN, Q96CV9: 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
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    golgi apparatus5
    cytosol4
    nucleus4
    endosome1
    lysosome1
    plasma membrane1
    vacuole1

    Gene Ontology (GO): Selected cellular component terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000139Golgi membrane TAS--
    GO:0005654nucleoplasm TAS--
    GO:0005737cytoplasm IDA--
    GO:0005794Golgi apparatus IDA15837803
    GO:0005802trans-Golgi network IDA--

    Find genes that share ontologies with OPTN           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, 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 Apr 2014 via Entrez Gene).
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    SuperPaths for OPTN About    
    See pathways by source

    SuperPathContained pathways About
    1Clathrin dependent protein traffic
    Clathrin dependent protein traffic0.66
    Transport Clathrin coated vesicle cycle0.66
    2Regulation of PLK1 Activity at G2/M Transition
    Regulation of PLK1 Activity at G2/M Transition0.77
    Mitotic G2-G2/M phases0.69
    G2/M Transition0.70
    3Cell Cycle, Mitotic
    Cell Cycle, Mitotic0.90
    Cell Cycle0.90


    Find genes that share SuperPaths with OPTN           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 GeneGo (Thomson Reuters) Pathway for OPTN
        Transport Clathrin-coated vesicle cycle


    1 Reactome Pathway for OPTN
        Regulation of PLK1 Activity at G2/M Transition


        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for OPTN
    Interactions:

        GeneGlobe Interaction Network for OPTN

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

    Selected Interacting proteins for OPTN (Q96CV91, 2, 3 ENSP000002630364) via UniProtKB, MINT, STRING, and/or I2D (see all 87)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    TBK1Q9UHD21, 2, 3, ENSP000003299674EBI-748974,EBI-356402 MINT-6492491 MINT-6492320 MINT-6492337 MINT-6492467 MINT-6492519 MINT-6492427 MINT-6492303 MINT-6492355 I2D: score=4 STRING: ENSP00000329967
    HTTP428582, 3, ENSP000003471844MINT-15358 MINT-15357 I2D: score=4 STRING: ENSP00000347184
    CCDC53Q9Y3C02, 3, ENSP000002400794MINT-67405 I2D: score=6 STRING: ENSP00000240079
    RNF11Q9Y3C52, 3, ENSP000002427194MINT-60860 I2D: score=3 STRING: ENSP00000242719
    TNIP1Q150251, 3, ENSP000003178914EBI-748974,EBI-357849 I2D: score=1 STRING: ENSP00000317891
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000042protein targeting to Golgi IMP15837803
    GO:0000086G2/M transition of mitotic cell cycle TAS--
    GO:0000278mitotic cell cycle TAS--
    GO:0007030Golgi organization IMP15837803
    GO:0007165signal transduction TAS9488477

    Find genes that share ontologies with OPTN           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for OPTN

    1 Novoseek inferred 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)



    Find genes that share compounds with OPTN           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    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
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    Block miRNA regulation of human, mouse, rat OPTN using miScript Target Protectors
    Selected qRT-PCR 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 plasmidOPTN 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat OPTN
    Clone
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    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
    Addgene plasmids for OPTN 
    Primer
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    OriGene qPCR primer pairs and template standards for OPTN
    OriGene qSTAR qPCR primer pairs in human, mouse for OPTN
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat OPTN
      QuantiTect SYBR Green Assays in human, mouse, rat OPTN
      QuantiFast Probe-based Assays in human, mouse, rat OPTN

    Additional mRNA 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 

    21 DOTS entries:

    DT.453277  DT.92438460  DT.95278486  DT.99957198  DT.95278470  DT.95315669  DT.100021196  DT.92009436 
    DT.100879050  DT.100879065  DT.100030808  DT.99939142  DT.121250130  DT.100879052  DT.121250154  DT.86840784 
    DT.87013110  DT.95278467  DT.95278469  DT.95278473  DT.97844795 

    Selected AceView cDNA sequences (see all 305):

    BU623376 CB129346 AA180971 AI273157 AA576702 BQ573959 AW612870 BP345428 
    AF420373 CD675512 AA808902 BQ650013 AA400333 CB108035 BM709706 BQ773529 
    BQ923212 AW263847 BQ883124 AA582624 AI168158 CD243803 BQ879423 BU733648 

    GeneLoc Exon Structure

    Selected 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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

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    OPTN expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GGGCGAGAAC
    OPTN Expression
    About this image


    OPTN expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 17) fully expand
     
     Brain (Nervous System)    fully expand to see all 5 entries
             Cerebral Cortex
     
     Kidney (Urinary System)    fully expand to see all 2 entries
             Podocytes Podocyte Layer
             Metanephros
     
     Neural Tube (Nervous System)    fully expand to see all 2 entries
             Metencephalon
     
     Ovary (Reproductive System)
             Oviduct
     
     Epithelial Cells
             Podocytes Podocyte Layer
    OPTN Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    OPTN Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.332706

    UniProtKB/Swiss-Prot: OPTN_HUMAN, Q96CV9
    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

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    (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)
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    This gene was present in the common ancestor of chordates.

    Orthologs for OPTN gene from Selected species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Optn1 , 5 optineurin1, 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 66.29(n)
    61.73(a)
      374079  NM_204236.1  NP_989567.1 
    lizard
    (Anolis carolinensis)
    Reptilia OPTN6
    optineurin
    58(a)
    1 ↔ 1
    5(89882946-89910422)
    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 


    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)
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    Paralogs for OPTN gene
    IKBKG2  

    Find genes that share paralogs with OPTN           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, 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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for OPTN (see all 1065)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 10 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs289396881,2,,4
    CGlaucoma 1, open angle, E (GLC1E)4 pathogenic113060680(+) TGACCA/GAGAAC 8 K E mis10--------
    VAR_0215404
    Glaucoma 1, open angle, E (GLC1E)4--see VAR_0215402 E D mis40--------
    VAR_0215464
    Glaucoma 1, open angle, E (GLC1E)4--see VAR_0215462 H R mis40--------
    VAR_0215374
    Glaucoma 1, open angle, E (GLC1E)4--see VAR_0215372 H D mis40--------
    VAR_0635974
    Amyotrophic lateral sclerosis 12 (ALS12)4--see VAR_0635972 E G mis40--------
    rs112581941,2,,4
    C,F,A,Hpathogenic113061813(+) TCTAAT/AGGCCT 8 /K /M mis1 ese37Minor allele frequency- A:0.06NA CSA WA EA EU 6233
    rs756547671,2
    C,Fpathogenic113088183(+) CTGGCG/AGCAAC 8 /Q /R mis13Minor allele frequency- A:0.00EA NA EU 5991
    rs792794691,2
    C,F--13049952(+) CTTACA/CGGCCC 4 -- us2k11Minor allele frequency- C:0.07EA 120
    rs1457462751,2
    C--13049959(+) GCCCCA/GGGGGG 4 -- us2k10--------
    rs1466384431,2
    C--13049978(+) CTGCCA/GATCCC 4 -- us2k10--------

    HapMap Linkage Disequilibrium report for OPTN (13141449 - 13180291 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for OPTN:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv894885CNV Gain21882294

    Human Gene Mutation Database (HGMD): OPTN
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers 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.)
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    OMIM gene information: 602432   
    OMIM disorders: 137760  606657  613435  
    UniProtKB/Swiss-Prot: OPTN_HUMAN, Q96CV9
  • 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. 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. 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.
    Note=The disease is caused by mutations affecting the gene represented in this entry

  • 14 diseases for OPTN:    
    About MalaCards
    optn-related amyotrophic lateral sclerosis    glaucoma    amyotrophic lateral sclerosis 12    glaucoma 1, open angle, e
    primary open angle glaucoma    ocular hypertension    open-angle glaucoma    optic nerve disease
    low tension glaucoma    glaucoma, congenital    primary angle-closure glaucoma    neuropathy
    paget's disease of bone    amyotrophic lateral sclerosis

    3 diseases from the University of Copenhagen DISEASES database for OPTN:
    Glaucoma     Amyotrophic lateral sclerosis     Blindness

    Find genes that share disorders with OPTN           About GenesLikeMe

    Selected Novoseek inferred 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)
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    PubMed articles for OPTN gene, integrated from 10 sources (see all 201):
    (articles sorted by number of sources associating them with OPTN)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. 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. (Clin. Exp. Ophthalmol. 2004)
    2. Different optineurin mutation pattern in primary open-angle glaucoma. (PubMed id 12939304)1, 2, 4, 9 Leung Y.F.... Pang C.P. (Invest. Ophthalmol. Vis. Sci. 2003)
    3. Adult-onset primary open-angle glaucoma caused by mutations in optineurin. (PubMed id 11834836)1, 2, 3, 9 Rezaie T....Sarfarazi M. (Science 2002)
    4. 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. (Invest. Ophthalmol. Vis. Sci. 2004)
    5. 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. (Am. J. Ophthalmol. 2003)
    6. 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. (J. Glaucoma 2004)
    7. 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. (Mol. Cell. Biol. 1998)
    8. Absence of optineurin (OPTN) gene mutations in Taiwanese patients with juvenile-onset open-angle glaucoma. (PubMed id 18385781)1, 4, 9 Yen Y.C....Li S.Y. (Mol. Vis. 2008)
    9. 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. (Mol. Vis. 2005)
    10. Variation in optineurin (OPTN) allele frequencies between and within populations. (PubMed id 17293779)1, 4, 9 Ayala-Lugo R.M....Richards J.E. (Mol. Vis. 2007)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    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)
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    Entrez Gene: 10133 HGNC: 17142 AceView: OPTN Ensembl:ENSG00000123240 euGenes: HUgn10133
    ECgene: OPTN H-InvDB: OPTN

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for OPTN Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for OPTN Genetics and Cytogenetics in Oncology and Haematology
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=OPTN[genesymbol]

    (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, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, eBioscience, antibodies-online, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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