What is the official name of the OPTN gene?
The official name of this gene is “optineurin.”
OPTN is the gene's official symbol. The OPTN gene is also known by other names, listed below.
Read more about gene names and symbols on the About page.
What is the normal function of the OPTN gene?
- From NCBI 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]
- From UniProt (OPTN_HUMAN):
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.
NOTE: UniProt (OPTN_HUMAN) suggests using caution when interpreting this information.
How are changes in the OPTN gene related to health conditions?
- Genetics Home Reference provides information about amyotrophic lateral sclerosis, which is associated with changes in the OPTN gene.
- UniProt (OPTN_HUMAN) provides the following information about the OPTN gene's known or predicted involvement in human disease.
Glaucoma 1, open angle, E (GLC1E): 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. The disease is caused by mutations affecting the gene represented in this entry.
Glaucoma, normal pressure (NPG): A primary glaucoma characterized by intraocular pression consistently within the statistically normal population range. Disease susceptibility is associated with variations affecting the gene represented in this entry.
Amyotrophic lateral sclerosis 12 (ALS12): 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. The disease is caused by mutations affecting the gene represented in this entry.
- NCBI Gene lists the following diseases or traits (phenotypes) known or believed to be associated with changes in the OPTN gene.
- Amyotrophic lateral sclerosis type 12
- Glaucoma, normal tension, susceptibility to
- Primary open angle glaucoma
- OMIM.org, a catalog designed for genetics professionals and researchers, provides the following information about the OPTN gene and its association with health conditions.
Where is the OPTN gene located?
Cytogenetic Location: 10p13
Molecular Location on chromosome 10: base pairs 13,100,075 to 13,138,291
(Homo sapiens Annotation Release 107, GRCh38.p2) (NCBI
The OPTN gene is located on the short (p) arm of chromosome 10 at position 13.
More precisely, the OPTN gene is located from base pair 13,100,075 to base pair 13,138,291 on chromosome 10.
See How do geneticists indicate the location of a gene? in the Handbook.
Where can I find additional information about OPTN?
You and your healthcare professional may find the following resources about OPTN helpful.
- Genetic Testing Registry - Repository of genetic test information
You may also be interested in these resources, which are designed for genetics professionals and researchers.
- OMIM - Genetic disorder catalog
- Research Resources - Tools for researchers
What other names do people use for the OPTN gene or gene products?
Where can I find general information about genes?
The Handbook provides basic information about genetics in clear language.
These links provide additional genetics resources that may be useful.
What glossary definitions help with understanding OPTN?
The resources on this site should not be used as a substitute for
professional medical care or advice. Users seeking information about
a personal genetic disease, syndrome, or condition should consult with a qualified
See How can I find a genetics professional in my area? in the Handbook.