OPTN Gene - Optineurin
A comprehensive guide to the OPTN gene, its function, associated diseases, and expression data.
Gene Information Card
| Symbol | OPTN |
|---|---|
| Full Name | Optineurin |
| Gene Type | Protein coding |
| Chromosomal Location | 10p13 |
| NCBI Gene ID | 10133 ncbi.nlm.nih.gov/gene/10133 |
| Ensembl ID | ENSG00000123240 |
| UniProt ID | Q96CV9 |
| OMIM ID | 602432 |
| HGNC ID | 8142 |
| Aliases | FIP2, GLC1E, HIP7, HYPL, NRP, TFIIIA-INTP |
Description
OPTN (optineurin) encodes a protein involved in maintaining the Golgi complex, membrane trafficking, vesicle transport, and exocytosis. It plays a role in the NF-kB signaling pathway, autophagy, and innate immunity. Mutations in OPTN are associated with primary open-angle glaucoma (POAG) and amyotrophic lateral sclerosis (ALS).
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Primary Open-Angle Glaucoma (POAG) | Loss of function or dominant-negative mutations impair optineurin's role in vesicle trafficking and NF-kB regulation, leading to retinal ganglion cell death. | ClinVar, OMIM |
| Amyotrophic Lateral Sclerosis (ALS) | Mutations (e.g., E478G) disrupt autophagy and protein clearance, causing motor neuron degeneration. | ClinVar, OMIM |
| Paget's Disease of Bone | Rare variants may affect optineurin's interaction with sequestosome-1 (SQSTM1), altering osteoclast regulation. | OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Adipose tissue | 5.1 | Low |
| Brain | 8.2 | Medium |
| Eye | 12.5 | Medium |
| Heart | 6.0 | Low |
| Kidney | 9.8 | Medium |
| Liver | 7.4 | Medium |
| Lung | 10.1 | Medium |
| Muscle | 4.3 | Low |
| Spleen | 11.6 | Medium |
| Testis | 15.3 | High |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 14.2 | Cervical cancer cell line |
| HEK 293 | 12.8 | Embryonic kidney cells |
| SH-SY5Y | 9.5 | Neuroblastoma cell line |
| U-2 OS | 11.1 | Osteosarcoma cell line |
| HepG2 | 8.7 | Hepatocellular carcinoma |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| E50K | Missense | Rare | Associated with POAG; alters Golgi dynamics and NF-kB signaling. |
| M98K | Missense | Common polymorphism | Moderate risk factor for POAG. |
| E478G | Missense | Rare | Associated with ALS; impairs autophagy and optineurin-ubiquitin binding. |
| Q165X | Nonsense | Rare | Loss-of-function; linked to ALS. |
Mutation functional classification
Loss of Function (LOF)
Nonsense mutations (e.g., Q165X) lead to truncated protein and loss of normal function, contributing to ALS.
Gain of Function (GOF)
Not clearly established for OPTN; some missense mutations may alter protein interactions but not typically classified as gain-of-function.
Dominant Negative (DN)
E50K mutation in POAG is thought to act via dominant-negative effects, disrupting normal optineurin function in vesicle trafficking.
View complete mutation data：
Gene Ontology (GO)
| • Golgi organization | • Autophagy |
| • Negative regulation of NF-kB transcription factor activity | • Protein ubiquitination |
| • Vesicle-mediated transport | • Response to stress |
Pathways
• Autophagy
• NF-kB signaling
• Vesicle trafficking
Protein Summary
Optineurin is a 577-amino acid protein with a molecular weight of ~66 kDa. It contains a ubiquitin-binding domain, a coiled-coil region, and a zinc finger domain. It interacts with Rab8, huntingtin, and myosin VI, and is involved in vesicle transport, autophagy, and signal transduction. The protein is widely expressed, with highest levels in the testis and eye.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| OPTN Knockout HEK293T Cell Line | EDJ-KQ197 | Human | 10133 | Details Get a Quote |
| OPTN Knockout HEK293 Cell Line | EDJ-KQ2061 | Human | 10133 | Details Get a Quote |
| OPTN Knockout A-549 Cell Line | EDJ-KQ23501 | Human | 10133 | Details Get a Quote |
| OPTN Knockout HCT 116 Cell Line | EDJ-KQ23503 | Human | 10133 | Details Get a Quote |
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