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Aliases for OPTN Gene

Aliases for OPTN Gene

  • Optineurin 2 3
  • GLC1E 3 4 6
  • FIP2 3 4 6
  • HYPL 3 4 6
  • NRP 3 4 6
  • Transcription Factor IIIA-Interacting Protein 3 4
  • Optic Neuropathy-Inducing Protein 3 4
  • Huntingtin-Interacting Protein 7 3 4
  • Huntingtin-Interacting Protein L 3 4
  • E3-14.7K-Interacting Protein 3 4
  • Huntingtin Yeast Partner L 3 4
  • TFIIIA-INTP 3 4
  • ALS12 3 6
  • FIP-2 3 4
  • HIP-7 3 4
  • HIP7 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

External Ids for OPTN Gene

Previous HGNC Symbols for OPTN Gene

  • GLC1E

Previous GeneCards Identifiers for OPTN Gene

  • GC10P013123
  • GC10P013291
  • GC10P013145
  • GC10P013146
  • GC10P013181
  • GC10P013055

Summaries for OPTN Gene

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 amyotrophic lateral sclerosis 12 and glaucoma 1, open angle, e. Among its related pathways are Cell Cycle, Mitotic and Cell Cycle, Mitotic. GO annotations related to this gene include protein C-terminus binding.

UniProtKB/Swiss-Prot 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. 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). 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 recruitnment 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. 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 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for OPTN Gene

Genomics for OPTN Gene

Regulatory Elements for OPTN Gene

Transcription factor binding sites by QIAGEN in the OPTN gene promoter:

Genomic Location for OPTN Gene

Start:
13,099,449 bp from pter
End:
13,138,308 bp from pter
Size:
38,860 bases
Orientation:
Plus strand

Genomic View for OPTN Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for OPTN Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene 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
    Secondary Accessions:
    • B3KP00
    • D3DRS4
    • D3DRS8
    • Q5T672
    • Q5T673
    • Q5T674
    • Q5T675
    • Q7LDL9
    • Q8N562
    • Q9UET9
    • Q9UEV4
    • Q9Y218

    Protein attributes for OPTN Gene

    Size:
    577 amino acids
    Molecular mass:
    65921 Da
    Quaternary structure:
    • 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 asscociation (at least with MAP1LC3B). Self-associates. Interacts with RAB12; the interaction may be indirect. Interacts with E3 14.7 kDa protein of group C human adenovirus.
    SequenceCaution:
    • Sequence=CAI16552.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for OPTN Gene

    Alternative splice isoforms for OPTN Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for OPTN Gene

Proteomics data for OPTN Gene at MOPED

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
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for OPTN Gene

Domains for OPTN Gene

Protein Domains for OPTN Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for OPTN Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q96CV9

UniProtKB/Swiss-Prot:

OPTN_HUMAN :
  • Q96CV9
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.
genes like me logo Genes that share domains with OPTN: view

No data available for Gene Families for OPTN Gene

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. 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). 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 recruitnment 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. May constitute a cellular target for adenovirus E3 14.7, an inhibitor of TNF-alpha functions, thereby affecting cell death.
UniProtKB/Swiss-Prot Induction: Upon TNF and interferon treatments. Up-regulated in direct response to viral infection.

Gene Ontology (GO) - Molecular Function 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:0031593 polyubiquitin binding IDA 21617041
GO:0042802 identical protein binding IPI 23414517
genes like me logo Genes that share ontologies with OPTN: view
genes like me logo Genes that share phenotypes with OPTN: view

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting 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. 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.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for OPTN Gene COMPARTMENTS Subcellular localization image for OPTN gene
Compartment Confidence
golgi apparatus 5
cytosol 4
nucleus 4
endosome 1
lysosome 1
plasma membrane 1
vacuole 1

Gene Ontology (GO) - Cellular Components for OPTN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane TAS --
GO:0005634 nucleus IBA --
GO:0005654 nucleoplasm TAS --
GO:0005737 cytoplasm IDA --
GO:0005768 endosome --
genes like me logo Genes that share ontologies with OPTN: view

Pathways for OPTN Gene

genes like me logo Genes that share pathways with OPTN: view

Pathways by source for OPTN Gene

Gene Ontology (GO) - Biological Process for OPTN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000042 protein targeting to Golgi IMP 15837803
GO:0000086 G2/M transition of mitotic cell cycle TAS --
GO:0000278 mitotic cell cycle TAS --
GO:0001920 negative regulation of receptor recycling IMP 22854040
GO:0007030 Golgi organization IMP 15837803
genes like me logo Genes that share ontologies with OPTN: view

Compounds for OPTN Gene

(1) Novoseek inferred chemical compound relationships for OPTN Gene

Compound -log(P) Hits PubMed IDs
dexamethasone 2.04 5
genes like me logo Genes that share compounds with OPTN: view

Transcripts for OPTN Gene

Unigene Clusters for OPTN Gene

Optineurin:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for OPTN Gene

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
ECgene alternative splicing isoforms for
OPTN

Expression for OPTN Gene

mRNA expression in normal human tissues for OPTN Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for OPTN Gene

This gene is overexpressed in Muscle - Skeletal (11.5).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for OPTN Gene

SOURCE GeneReport for Unigene cluster for OPTN Gene Hs.332706

mRNA 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.
genes like me logo Genes that share expressions with OPTN: view

Orthologs for OPTN Gene

This gene was present in the common ancestor of chordates.

Orthologs for OPTN Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia OPTN 35
  • 99.36 (n)
  • 99.13 (a)
OPTN 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia OPTN 35
  • 85.76 (n)
  • 84.41 (a)
OPTN 36
  • 83 (a)
OneToOne
dog
(Canis familiaris)
Mammalia OPTN 35
  • 85.29 (n)
  • 85.46 (a)
OPTN 36
  • 83 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Optn 35
  • 81.52 (n)
  • 79.82 (a)
Optn 16
Optn 36
  • 78 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia OPTN 36
  • 68 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia OPTN 36
  • 73 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Optn 35
  • 77.89 (n)
  • 75.79 (a)
chicken
(Gallus gallus)
Aves OPTN 35
  • 66.29 (n)
  • 61.73 (a)
OPTN 36
  • 59 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia OPTN 36
  • 58 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.33858 35
tropical clawed frog
(Silurana tropicalis)
Amphibia optn 35
  • 59 (n)
  • 50.29 (a)
zebrafish
(Danio rerio)
Actinopterygii optn 35
  • 54.64 (n)
  • 45.36 (a)
optn 36
  • 42 (a)
OneToOne
zgc66386 35
Species with no ortholog for OPTN:
  • A. gosspyii yeast (Ashbya 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 squirt (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)

Paralogs for OPTN Gene

No data available for Paralogs for OPTN Gene

Variants for OPTN Gene

Sequence variations from dbSNP and Humsavar for OPTN Gene

SNP ID Clin Chr 10 pos Sequence Context AA Info Type MAF
rs478911 -- 13,102,281(-) ACCCA(A/C)CAGAG intron-variant
rs489040 -- 13,122,596(+) AAATC(A/G)TGTTG intron-variant
rs523747 - 13,124,076(+) TCAGC(A/C/G)AAGCT missense, reference
rs530107 -- 13,106,061(-) TAGAA(A/G)TGTGT intron-variant
rs532144 -- 13,105,808(-) CCTCA(A/G)CCTCC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for OPTN Gene

Variant ID Type Subtype PubMed ID
nsv894885 CNV Gain 21882294

Relevant External Links for OPTN Gene

HapMap Linkage Disequilibrium report
OPTN
Human Gene Mutation Database (HGMD)
OPTN

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for OPTN Gene

Disorders for OPTN Gene

(3) OMIM Diseases for OPTN Gene (602432)

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}. 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}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(3) University of Copenhagen DISEASES for OPTN Gene

(12) Novoseek inferred disease relationships for OPTN Gene

Disease -log(P) Hits PubMed IDs
primary open angle glaucoma 89.6 15
glaucoma open-angle 89.6 35
glaucoma 84.9 71
glc1a 80.9 1
optic neuropathy 69.2 4

Relevant External Links for OPTN

Genetic Association Database (GAD)
OPTN
Human Genome Epidemiology (HuGE) Navigator
OPTN
genes like me logo Genes that share disorders with OPTN: view

Publications for OPTN Gene

  1. Adult-onset primary open-angle glaucoma caused by mutations in optineurin. (PMID: 11834836) Rezaie T. … Sarfarazi M. (Science 2002) 2 3 4 23
  2. Different optineurin mutation pattern in primary open-angle glaucoma. (PMID: 12939304) Leung Y.F. … Pang C.P. (Invest. Ophthalmol. Vis. Sci. 2003) 3 4 23 48
  3. Evaluation of optineurin sequence variations in 1,048 patients with open-angle glaucoma. (PMID: 14597044) Alward W.L.M. … Stone E.M. (Am. J. Ophthalmol. 2003) 3 4 23 48
  4. Molecular genetic analysis of optineurin gene for primary open-angle and normal tension glaucoma in the Japanese population. (PMID: 15226658) Fuse N. … Tamai M. (J. Glaucoma 2004) 3 4 23 48
  5. Analysis of optineurin (OPTN) gene mutations in subjects with and without glaucoma: the blue mountains eye study. (PMID: 15498064) Baird P.N. … Mitchell P. (Clin. Exp. Ophthalmol. 2004) 3 4 23 48

Products for OPTN Gene

  • Addgene plasmids for OPTN

Sources for OPTN Gene

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