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Aliases for OPTN Gene

Aliases for OPTN Gene

  • Optineurin 2 3 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
  • 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
  • TFIIIA-INTP 3
  • TFIIIA-IntP 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 Glaucoma, Primary Open Angle and Amyotrophic Lateral Sclerosis 12. Among its related pathways are Cell Cycle, Mitotic and Regulation of PLK1 Activity at G2/M Transition. Gene Ontology (GO) annotations related to this gene include identical protein binding and Rab GTPase binding. An important paralog of this gene is IKBKG.

UniProtKB/Swiss-Prot for OPTN Gene

  • Plays an important role in the maintenance of the Golgi complex, in membrane trafficking, in exocytosis, through its interaction with myosin VI and Rab8 (PubMed:27534431). Links myosin VI to the Golgi complex and plays an important role in Golgi ribbon formation (PubMed:27534431). Plays a role in the activation of innate immune response during viral infection. Mechanistically, recruits TBK1 at the Golgi apparatus, promoting its trans-phosphorylation after RLR or TLR3 stimulation (PubMed:27538435). In turn, activated TBK1 phosphorylates its downstream partner IRF3 to produce IFN-beta. Plays a neuroprotective role in the eye and optic nerve. May act by regulating membrane trafficking and cellular morphogenesis via a complex that contains Rab8 and hungtingtin (HD). Mediates the interaction of Rab8 with the probable GTPase-activating protein TBC1D17 during Rab8-mediated endocytic trafficking, such as of transferrin receptor (TFRC/TfR); regulates Rab8 recruitment to tubules emanating from the endocytic recycling compartment. Autophagy receptor that interacts directly with both the cargo to become degraded and an autophagy modifier of the MAP1 LC3 family; targets ubiquitin-coated bacteria (xenophagy), such as cytoplasmic Salmonella enterica, and appears to function in the same pathway as SQSTM1 and CALCOCO2/NDP52.

  • (Microbial infection) May constitute a cellular target for adenovirus E3 14.7 and Bluetongue virus protein NS3 to inhibit innate immune response.

Gene Wiki entry for OPTN Gene

Additional gene information for OPTN Gene

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

Genomics for OPTN Gene

GeneHancer (GH) Regulatory Elements for OPTN Gene

Promoters and enhancers for OPTN Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH10J013098 Promoter/Enhancer 2.2 EPDnew FANTOM5 Ensembl ENCODE 650.7 +1.6 1643 4.4 FOXA2 PKNOX1 ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF143 KLF13 SP3 CCDC3 OPTN BTBD7P1 ENSG00000239665 PRPF18 SNRPGP5
GH10J013160 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 9.9 +62.2 62187 2.1 PKNOX1 MLX ARNT ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 E2F8 RPL36AP36 MCM10 GC10M013159 BTBD7P1 ENSG00000228302 OPTN CCDC3 PRPF18 GC10P013202
GH10J012705 Enhancer 1.4 FANTOM5 Ensembl ENCODE 10.7 -390.8 -390771 6.3 PKNOX1 SIN3A FEZF1 IRF4 YY1 ZNF213 ZNF143 FOS ATF7 RUNX3 CAMK1D CCDC3 OPTN ENSG00000239665 GC10P012703 MIR548Q
GH10J013001 Promoter 1.4 EPDnew Ensembl 10.1 -97.6 -97649 0.8 ZBTB8A BMI1 ZIC2 ZNF2 ZNF335 GLIS2 POLR2A ZBTB48 GLIS1 CTBP2 CCDC3 OPTN RPL5P25 RNA5SP300
GH10J012717 Enhancer 1.2 Ensembl ENCODE 9.9 -379.8 -379800 3.6 PKNOX1 CLOCK FOXA2 ARNT NEUROD1 SIN3A FEZF1 ZNF2 YY1 ZNF213 CAMK1D OPTN CCDC3 MIR548Q GC10P012703
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around OPTN on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the OPTN gene promoter:
  • Sp1

Genomic Locations for OPTN Gene

Genomic Locations for OPTN Gene
chr10:13,099,449-13,138,308
(GRCh38/hg38)
Size:
38,860 bases
Orientation:
Plus strand
chr10:13,141,449-13,180,291
(GRCh37/hg19)
Size:
38,843 bases
Orientation:
Plus strand

Genomic View for OPTN Gene

Genes around OPTN on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
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:
    65922 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 association (at least with MAP1LC3B). Self-associates. Interacts with RAB12; the interaction may be indirect. Interacts with TBK1; this interaction leads to the Golgi localization of TBK1 and its subsequent activation.
    • (Microbial infection) Interacts with E3 14.7 kDa protein of group C human adenovirus (PubMed:9488477). Interacts with Bluetongue virus protein NS3 (PubMed:27538435).
    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

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 & Families for OPTN Gene

Gene Families for OPTN Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

Protein Domains for OPTN Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for OPTN Gene

GenScript: Design optimal peptide antigens:

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

Function for OPTN Gene

Molecular function for OPTN Gene

UniProtKB/Swiss-Prot Function:
Plays an important role in the maintenance of the Golgi complex, in membrane trafficking, in exocytosis, through its interaction with myosin VI and Rab8 (PubMed:27534431). Links myosin VI to the Golgi complex and plays an important role in Golgi ribbon formation (PubMed:27534431). Plays a role in the activation of innate immune response during viral infection. Mechanistically, recruits TBK1 at the Golgi apparatus, promoting its trans-phosphorylation after RLR or TLR3 stimulation (PubMed:27538435). In turn, activated TBK1 phosphorylates its downstream partner IRF3 to produce IFN-beta. Plays a neuroprotective role in the eye and optic nerve. May act by regulating membrane trafficking and cellular morphogenesis via a complex that contains Rab8 and hungtingtin (HD). Mediates the interaction of Rab8 with the probable GTPase-activating protein TBC1D17 during Rab8-mediated endocytic trafficking, such as of transferrin receptor (TFRC/TfR); regulates Rab8 recruitment to tubules emanating from the endocytic recycling compartment. Autophagy receptor that interacts directly with both the cargo to become degraded and an autophagy modifier of the MAP1 LC3 family; targets ubiquitin-coated bacteria (xenophagy), such as cytoplasmic Salmonella enterica, and appears to function in the same pathway as SQSTM1 and CALCOCO2/NDP52.
UniProtKB/Swiss-Prot Function:
(Microbial infection) May constitute a cellular target for adenovirus E3 14.7 and Bluetongue virus protein NS3 to inhibit innate immune response.
UniProtKB/Swiss-Prot Induction:
Upon TNF and interferon treatments. Up-regulated in direct response to viral infection.

Phenotypes From GWAS Catalog for OPTN Gene

Gene Ontology (GO) - Molecular Function for OPTN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 11137014
GO:0008022 protein C-terminus binding IPI 15837803
GO:0017137 Rab GTPase binding IPI 17646400
GO:0030674 protein binding, bridging IPI 25803835
GO:0031593 polyubiquitin modification-dependent protein binding IDA 21617041
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 Models for OPTN Gene

MGI Knock Outs for OPTN:
  • Optn Optn<tm1a(EUCOMM)Wtsi>

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for OPTN

Clone Products

  • Addgene plasmids for OPTN

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

Localization for OPTN Gene

Subcellular locations from UniProtKB/Swiss-Prot for OPTN Gene

Cytoplasm, perinuclear region. Golgi apparatus. Golgi apparatus, trans-Golgi network. Cytoplasmic vesicle, autophagosome. Cytoplasmic vesicle. Recycling endosome. Note=Found in the perinuclear region and associates with the Golgi apparatus (PubMed:27534431). Colocalizes with MYO6 and RAB8 at the Golgi complex and in vesicular structures close to the plasma membrane. Localizes to LC3-positive cytoplasmic vesicles upon induction of autophagy. {ECO:0000269 PubMed:27534431}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for OPTN gene
Compartment Confidence
nucleus 5
cytosol 5
golgi apparatus 5
endosome 5
cytoskeleton 2
mitochondrion 2
lysosome 2
plasma membrane 1
extracellular 1
endoplasmic reticulum 1

Subcellular locations from the

Human Protein Atlas (HPA)

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 TAS 9488477
GO:0005768 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

1 KEGG pathway for OPTN Gene
1 GeneGo (Thomson Reuters) pathway for OPTN Gene
1 Cell Signaling Technology pathway 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:0000086 G2/M transition of mitotic cell cycle TAS --
GO:0001920 negative regulation of receptor recycling IMP 22854040
GO:0002376 immune system process IEA --
GO:0006914 autophagy IEA --
GO:0007030 Golgi organization IMP 15837803
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

mRNA/cDNA for OPTN Gene

Unigene Clusters for OPTN Gene

Optineurin:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for OPTN

Clone Products

  • Addgene plasmids for OPTN

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for OPTN Gene



Protein tissue co-expression partners for OPTN Gene

NURSA nuclear receptor signaling pathways regulating expression of OPTN Gene:

OPTN

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.

Evidence on tissue expression from TISSUES for OPTN Gene

  • Nervous system(4.9)
  • Eye(4.7)
  • Liver(4.6)
  • Skin(4.5)
  • Kidney(3.3)
  • Muscle(3.2)
  • Heart(3.1)
  • Lung(3.1)
  • Intestine(2.1)
  • Pancreas(2.1)
  • Blood(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for OPTN Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • ear
  • epiglottis
  • eye
  • face
  • head
  • jaw
  • larynx
  • mandible
  • maxilla
  • mouth
  • neck
  • nose
  • pharynx
  • skull
  • tongue
  • vocal cord
Thorax:
  • bronchus
  • clavicle
  • esophagus
  • heart
  • lung
  • scapula
  • trachea
Abdomen:
  • biliary tract
  • liver
  • stomach
Limb:
  • arm
  • digit
  • finger
  • foot
  • forearm
  • hand
  • humerus
  • lower limb
  • shin
  • shoulder
  • thigh
  • toe
  • upper limb
General:
  • blood vessel
  • peripheral nerve
  • peripheral nervous system
  • spinal cord
genes like me logo Genes that share expression patterns with OPTN: view

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
chimpanzee
(Pan troglodytes)
Mammalia OPTN 34 33
  • 99.36 (n)
OneToOne
cow
(Bos Taurus)
Mammalia OPTN 34 33
  • 85.76 (n)
OneToOne
dog
(Canis familiaris)
Mammalia OPTN 34 33
  • 85.29 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Optn 16 34 33
  • 81.52 (n)
rat
(Rattus norvegicus)
Mammalia Optn 33
  • 77.89 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia OPTN 34
  • 73 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia OPTN 34
  • 68 (a)
OneToOne
chicken
(Gallus gallus)
Aves OPTN 34 33
  • 66.29 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia OPTN 34
  • 58 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia optn 33
  • 59 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.33858 33
zebrafish
(Danio rerio)
Actinopterygii optn 34 33
  • 54.64 (n)
OneToOne
zgc66386 33
Species where no ortholog for OPTN was found in the sources mined by GeneCards:
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for OPTN: view image

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 Variation AA Info Type
rs1000549349 uncertain-significance, Amyotrophic Lateral Sclerosis, Recessive, Primary open angle glaucoma 13,100,194(+) G/T 5_prime_UTR_variant
rs1019100813 uncertain-significance, Amyotrophic Lateral Sclerosis, Recessive, Primary open angle glaucoma 13,137,084(+) G/C 3_prime_UTR_variant
rs1050054289 uncertain-significance, Primary open angle glaucoma, Amyotrophic Lateral Sclerosis, Recessive 13,137,279(+) G/A/C 3_prime_UTR_variant
rs111484304 likely-benign, Primary open angle glaucoma, Amyotrophic Lateral Sclerosis, Recessive 13,137,135(+) C/T 3_prime_UTR_variant
rs11258194 risk-factor, pathogenic, benign, Glaucoma, normal tension, susceptibility to, Glaucoma 1, open angle, e, not specified, Primary open angle glaucoma, Amyotrophic Lateral Sclerosis, Recessive 13,110,400(+) T/A coding_sequence_variant, missense_variant

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

Variant ID Type Subtype PubMed ID
nsv957029 CNV deletion 24416366
nsv947740 CNV duplication 23825009
nsv1068279 CNV deletion 25765185
esv3545920 CNV deletion 23714750
esv2762845 CNV loss 21179565
dgv368n106 CNV deletion 24896259

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)

Additional Variant Information for OPTN Gene

Human Gene Mutation Database (HGMD)
OPTN
SNPedia medical, phenotypic, and genealogical associations of SNPs for
OPTN

SNP Genotyping and Copy Number Assay Products

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

Disorders for OPTN Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
glaucoma, primary open angle
  • poag
amyotrophic lateral sclerosis 12
  • als12
glaucoma, normal tension
  • glaucoma, normal tension, susceptibility to
amyotrophic lateral sclerosis 1
  • als1
open-angle glaucoma
  • glaucoma simplex
- 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
  • Glaucoma 1, open angle, E (GLC1E) [MIM:137760]: A form of primary open angle glaucoma (POAG). POAG is characterized by a specific pattern of optic nerve and visual field defects. The angle of the anterior chamber of the eye is open, and usually the intraocular pressure is increased. However, glaucoma can occur at any intraocular pressure. The disease is generally asymptomatic until the late stages, by which time significant and irreversible optic nerve damage has already taken place. {ECO:0000269 PubMed:11834836, ECO:0000269 PubMed:12939304, ECO:0000269 PubMed:14597044, ECO:0000269 PubMed:15226658, ECO:0000269 PubMed:15326130, ECO:0000269 PubMed:15557444, ECO:0000269 PubMed:17389490, ECO:0000269 PubMed:20085643, ECO:0000269 PubMed:22854040, ECO:0000269 PubMed:23669351, ECO:0000269 PubMed:24752605}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Glaucoma, normal pressure (NPG) [MIM:606657]: A primary glaucoma characterized by intraocular pression consistently within the statistically normal population range. {ECO:0000269 PubMed:15370540}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.
  • Amyotrophic lateral sclerosis 12 (ALS12) [MIM:613435]: A neurodegenerative disorder affecting upper motor neurons in the brain and lower motor neurons in the brain stem and spinal cord, resulting in fatal paralysis. Sensory abnormalities are absent. The pathologic hallmarks of the disease include pallor of the corticospinal tract due to loss of motor neurons, presence of ubiquitin-positive inclusions within surviving motor neurons, and deposition of pathologic aggregates. The etiology of amyotrophic lateral sclerosis is likely to be multifactorial, involving both genetic and environmental factors. The disease is inherited in 5-10% of the cases. {ECO:0000269 PubMed:20428114, ECO:0000269 PubMed:27534431}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for OPTN

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

No data available for Genatlas for OPTN Gene

Publications for OPTN Gene

  1. Molecular genetic analysis of optineurin gene for primary open-angle and normal tension glaucoma in the Japanese population. (PMID: 15226658) Fuse N … Tamai M (Journal of glaucoma 2004) 3 4 22 44 58
  2. Analysis of optineurin (OPTN) gene mutations in subjects with and without glaucoma: the Blue Mountains Eye Study. (PMID: 15498064) Baird PN … Mitchell P (Clinical & experimental ophthalmology 2004) 3 4 22 44 58
  3. Variants in optineurin gene and their association with tumor necrosis factor-alpha polymorphisms in Japanese patients with glaucoma. (PMID: 15557444) Funayama T … Mashima Y (Investigative ophthalmology & visual science 2004) 3 4 22 44 58
  4. Different optineurin mutation pattern in primary open-angle glaucoma. (PMID: 12939304) Leung YF … Pang CP (Investigative ophthalmology & visual science 2003) 3 4 22 44 58
  5. Evaluation of optineurin sequence variations in 1,048 patients with open-angle glaucoma. (PMID: 14597044) Alward WL … Stone EM (American journal of ophthalmology 2003) 3 4 22 44 58

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