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Aliases for OPTN Gene

Aliases for OPTN Gene

  • Optineurin 2 3 5
  • 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
  • GLC1E 3 4
  • FIP-2 3 4
  • HIP-7 3 4
  • FIP2 3 4
  • HIP7 3 4
  • HYPL 3 4
  • NRP 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
  • ALS12 3

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 Normal wtCFTR traffic / ER-to-Golgi. GO annotations related to this gene include identical protein binding and Rab GTPase binding. An important paralog of this gene is IKBKG.

UniProtKB/Swiss-Prot 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

Promoters for OPTN Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around OPTN on UCSC Golden Path with GeneCards custom track

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

Genomic Location for OPTN Gene

Chromosome:
10
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

Genes around OPTN on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
OPTN Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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 Lys 448
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for OPTN Gene

Domains & Families 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 :
  • Ubiquitin-binding motif (UBAN) is essential for its inhibitory function, subcellular localization and interaction with TBK1.
Domain:
  • Ubiquitin-binding motif (UBAN) is essential for its inhibitory function, subcellular localization and interaction with TBK1.
  • The LIR (LC3-interacting region) motif mediates the interaction with ATG8 family proteins.
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:0008022 protein C-terminus binding IPI 15837803
genes like me logo Genes that share ontologies with OPTN: view
genes like me logo Genes that share phenotypes with OPTN: view

Human Phenotype Ontology for OPTN Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for OPTN Gene

Localization for OPTN Gene

Subcellular locations from UniProtKB/Swiss-Prot for OPTN Gene

Cytoplasm, perinuclear region. Golgi apparatus. Golgi apparatus, trans-Golgi network. Cytoplasmic vesicle, autophagosome. Cytoplasmic vesicle. Recycling endosome. Note=Found in the perinuclear region and associates with the Golgi apparatus. 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
cytosol 5
endosome 5
golgi apparatus 5
nucleus 5
vacuole 5
lysosome 2
cytoskeleton 1
endoplasmic reticulum 1
extracellular 1
mitochondrion 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for OPTN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA --
GO:0005829 cytosol TAS --
GO:0016023 cytoplasmic, membrane-bounded vesicle IBA --
GO:0055037 recycling endosome IEA --
genes like me logo Genes that share ontologies with OPTN: view

Pathways & Interactions for OPTN Gene

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

Pathways by source for OPTN Gene

SIGNOR curated interactions for OPTN Gene

Is activated by:

Gene Ontology (GO) - Biological Process for OPTN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007030 Golgi organization IMP 15837803
GO:0007165 signal transduction TAS 9488477
GO:0016236 macroautophagy IDA 21617041
GO:0043122 regulation of I-kappaB kinase/NF-kappaB signaling IBA --
GO:0050829 defense response to Gram-negative bacterium IMP 21617041
genes like me logo Genes that share ontologies with OPTN: view

Drugs & Compounds for OPTN Gene

(1) Drugs for OPTN Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
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 differential expression in normal tissues according to GTEx for OPTN Gene

This gene is overexpressed in Muscle - Skeletal (x11.5).

Protein differential expression in normal tissues from HIPED for OPTN Gene

This gene is overexpressed in Synovial fluid (15.9), Lymph node (14.4), and Peripheral blood mononuclear cells (6.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, 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 expression patterns with OPTN: view

Protein tissue co-expression partners for OPTN Gene

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery for OPTN Gene

Orthologs for OPTN Gene

This gene was present in the common ancestor of chordates.

Orthologs for OPTN Gene

Organism Taxonomy Gene Similarity Type Details
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
chimpanzee
(Pan troglodytes)
Mammalia OPTN 35
  • 99.36 (n)
  • 99.13 (a)
OPTN 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Optn 35
  • 77.89 (n)
  • 75.79 (a)
oppossum
(Monodelphis domestica)
Mammalia OPTN 36
  • 68 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia OPTN 36
  • 73 (a)
OneToOne
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
tropical clawed frog
(Silurana tropicalis)
Amphibia optn 35
  • 59 (n)
  • 50.29 (a)
African clawed frog
(Xenopus laevis)
Amphibia Xl.33858 35
zebrafish
(Danio rerio)
Actinopterygii optn 35
  • 54.64 (n)
  • 45.36 (a)
zgc66386 35
optn 36
  • 42 (a)
OneToOne
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

Paralogs for OPTN Gene

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

Variants for OPTN Gene

Sequence variations from dbSNP and Humsavar for OPTN Gene

SNP ID Clin Chr 10 pos Sequence Context AA Info Type
VAR_021537 Glaucoma 1, open angle, E (GLC1E)
rs28939688 Glaucoma 1, open angle, E (GLC1E) 13,109,270(+) TGACC(A/G)AGAAC reference, missense, utr-variant-5-prime
rs11258194 - 13,110,400(+) TCTAA(A/T)GGCCT reference, missense
VAR_021540 Glaucoma 1, open angle, E (GLC1E)
VAR_021541 -

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

Variant ID Type Subtype PubMed ID
nsv894885 CNV Gain 21882294

Variation tolerance for OPTN Gene

Residual Variation Intolerance Score: 8.56% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.91; 59.36% of all genes are more intolerant (likely to be disease-causing)

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

MalaCards: The human disease database

(69) MalaCards diseases for OPTN Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
amyotrophic lateral sclerosis 12
  • amyotrophic lateral sclerosis type 12
glaucoma 1, open angle, e
  • primary open angle glaucoma
glaucoma, normal tension
  • low tension glaucoma
amyotrophic lateral sclerosis 1
  • amyotrophic lateral sclerosis
optn-related amyotrophic lateral sclerosis
  • amyotrophic lateral sclerosis 12
- elite association - COSMIC cancer census association via MalaCards
Search OPTN in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

OPTN_HUMAN
  • 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.
  • 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.

Relevant External Links for OPTN

Genetic Association Database (GAD)
OPTN
Human Genome Epidemiology (HuGE) Navigator
OPTN
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
OPTN
genes like me logo Genes that share disorders with OPTN: view

No data available for Genatlas for OPTN Gene

Publications for OPTN Gene

  1. 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 67
  2. Adult-onset primary open-angle glaucoma caused by mutations in optineurin. (PMID: 11834836) Rezaie T. … Sarfarazi M. (Science 2002) 2 3 23
  3. Regulation of endocytic trafficking of transferrin receptor by optineurin and its impairment by a glaucoma-associated mutant. (PMID: 20085643) Nagabhushana A. … Swarup G. (BMC Cell Biol. 2010) 3 23
  4. Posttranslational modifications, localization, and protein interactions of optineurin, the product of a glaucoma gene. (PMID: 20161783) Ying H. … Yue B.Y. (PLoS ONE 2010) 3 23
  5. Mutations of optineurin in amyotrophic lateral sclerosis. (PMID: 20428114) Maruyama H. … Kawakami H. (Nature 2010) 3 23

Products for OPTN Gene

Sources for OPTN Gene

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