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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

OPTN Gene

protein-coding   GIFtS: 64
GCID: GC10P013055

Optineurin

(Previous names: glaucoma 1, open angle, E (adult-onset))
(Previous symbol: GLC1E)
Microbiology & Infectious Diseases Congress
  See 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)
About This Section

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


(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 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 glaucoma, and primary open angle glaucoma, and among its related super-pathways are Clathrin-dependent protein traffic and Cell Cycle, Mitotic. GO annotations related to this gene include protein binding and 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000010.10  NT_008705.16  NC_018921.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the OPTN gene promoter:
         Sp1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidOPTN 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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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 Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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

Explore proteomics data for OPTN at MOPED 

Post-translational modifications:

  • UniProtKB: Phosphorylated by TBK1, leading to restrict bacterial proliferation in case of infection. Phosphorylation is
    induced by phorbol esters and decreases its half-time
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q96CV9

  • OPTN Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    OPTN Protein Expression
    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
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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 
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    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 

    Gene Ontology (GO): 5/7 cellular component terms (GO ID links to tree view) (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--

    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
    Cloud-Clone Corp. Antibodies for OPTN 
    ThermoFisher Antibody for OPTN
    LSBio Antibodies in human, mouse, rat for OPTN 

    Assay Products for OPTN: 
    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


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


    OPTN for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, 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, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 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 IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI15837803
    GO:0008022protein C-terminus binding IPI15837803
         
    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 - Custom generated mouse model solutions for OPTN 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for OPTN

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for OPTN 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for OPTN 

    miRNA
    Products:
        
    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 plasmidOPTN 3' UTR sequence
    Inhib. RNA
    Products:
        
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for OPTN
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat OPTN

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

    Clone
    Products:
         
    Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene clones in human, mouse for OPTN (see all 23)
    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
    Sirion Biotech Customized lentivirus for stable overexpression of OPTN 
                         Customized lentivirus expression plasmids for stable overexpression of OPTN 

    Cell Line
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    Search LifeMap BioReagents cell lines for OPTN
    In Situ Assay
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    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, Sino Biological, 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 Oct 2013 via Entrez Gene).
    About This Section

    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
    2Cell Cycle
    Cell Cycle, Mitotic0.84
    Cell Cycle0.84
    3Recruitment of mitotic centrosome proteins and complexes
    G2/M Transition0.83
    Mitotic G2-G2/M phases0.81
    4Regulation of PLK1 Activity at G2/M Transition
    Regulation of PLK1 Activity at G2/M Transition

    Pathways by source                                                                                                                                                                 See SuperPaths
    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 CentralTM Interacting Genes and Proteins Network for OPTN

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

    5/77 Interacting proteins for OPTN (Q96CV91, 2, 3 ENSP000002630364) via UniProtKB, MINT, STRING, and/or I2D (see all 77)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    TBK1Q9UHD21, 2, 3, ENSP000003299674EBI-748974,EBI-356402 MINT-6492491 MINT-6492320 MINT-6492337 MINT-6492467 MINT-6492519 MINT-6492303 MINT-6492427 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
    CALM1P621583I2D: score=1 
    About this table

    Gene Ontology (GO): 5/9 biological process terms (GO ID links to tree view) (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

    OPTN for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, 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 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)

    Search CenterWatch for drugs/clinical trials and news about OPTN

    (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,
    Conferences by KenesGroup, 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, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, 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
    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

    miRNA
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    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 plasmidOPTN 3' UTR sequence
    Inhib. RNA
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    Clone
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    DNA2.0 Custom Codon Optimized Gene Synthesis Service for OPTN
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat OPTN
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat OPTN
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    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 

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

    CR597026 BC013876 W79624 CB151774 AI816089 BI828447 CD675512 F24304 
    BE327708 BU733648 AA576702 AI125565 BF724117 BU623376 CB529907 CB108035 
    AI273157 CB129346 BQ923212 W79480 BQ773529 AW241165 AI168158 BQ573959 

    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)      OPTN embryonic expression: see
    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 
     5/36 selected tissues (see all 36) fully expand
     
     Brain (Nervous System)    fully expand to see all 7 entries
             Cerebral Cortex
             brain/forebrain/telencephalon   
     
     Epithelium (Reproductive System)    fully expand to see all 5 entries
             vagina ; squamous epithelial cells   
     
     Colon (Gastrointestinal Tract)    fully expand to see all 4 entries
             colon ; peripheral nerve/ganglion   
     
     Kidney (Urinary System)    fully expand to see all 3 entries
             Podocytes Podocyte Layer
             Metanephros
             kidney ; cells in tubules   
     
     Lower Urinary Tract (Urinary System)    fully expand to see all 3 entries
             urinary bladder ; urothelial cells   
             visceral organ   

    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

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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)
    About This Section

    This gene was present in the common ancestor of chordates.

    Orthologs for OPTN gene from 5/13 species (see all 13)    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 65.76(n)
    60.11(a)
      374079  NM_204236.1  NP_989567.1 
    lizard
    (Anolis carolinensis)
    Reptilia OPTN6
    optineurin
    57(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)
    About This Section
    Paralogs for OPTN gene
    IKBKG2  

    OPTN for paralogs           About GeneDecksing



    (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) 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

    10/1065 SNPs in OPTN are shown (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
    ----------
    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--------
    rs289396881,2,4
    CGlaucoma 1, open angle, E (GLC1E)4 pathogenic113060680(+) TGACCA/GAGAAC 8 K E mis10--------
    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
    VAR_0215434
    ----see VAR_0215432 S R mis40--------
    VAR_0215474
    ----see VAR_0215472 R Q mis40--------
    VAR_0215414
    ----see VAR_0215412 P S mis40--------

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

  • 20/25 diseases for OPTN (see all 25):    About MalaCards
    glaucoma    primary open angle glaucoma    optic nerve disease    glaucoma 1, open angle, e
    optn-related amyotrophic lateral sclerosis    open-angle glaucoma    low tension glaucoma    ocular hypertension
    glaucoma, congenital    paget's disease of bone    primary angle-closure glaucoma    neuropathy
    amyotrophic lateral sclerosis    eaf    eye disease    lateral sclerosis
    retinal disease    polycystic kidney disease    blindness    kidney disease

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

    OPTN for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    10/12 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)
    About This Section

    PubMed articles for OPTN gene, integrated from 9 sources (see all 194):
    (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. (2004)
    2. Different optineurin mutation pattern in primary open-angle glaucoma. (PubMed id 12939304)1, 2, 4, 9 Leung Y.F.... Pang C.P. (2003)
    3. Adult-onset primary open-angle glaucoma caused by mutations in optineurin. (PubMed id 11834836)1, 2, 3, 9 Rezaie T....Sarfarazi M. (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. (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. (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. (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. (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. (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. (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. (2007)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    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
    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/sites/GeneTests/lab/gene/OPTN

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    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



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    About This Section

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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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