Gene
optn
- ID
- ZDB-GENE-030131-8103
- Name
- optineurin
- Symbol
- optn Nomenclature History
- Previous Names
-
- si:ch211-240l19.3
- wu:fj52f04
- zgc:66386
- zgc:77868
- Type
- protein_coding_gene
- Location
- Chr: 4 Mapping Details/Browsers
- Description
- Predicted to enable K63-linked polyubiquitin modification-dependent protein binding activity. Acts upstream of or within axonogenesis; defense response to bacterium; and vesicle localization. Predicted to be located in autophagosome; perinuclear region of cytoplasm; and recycling endosome. Predicted to be active in Golgi apparatus and nucleus. Is expressed in several structures, including brain; eye; muscle; periocular mesenchyme; and pleuroperitoneal region. Human ortholog(s) of this gene implicated in Paget's disease of bone; amyotrophic lateral sclerosis (multiple); and glaucoma (multiple). Orthologous to human OPTN (optineurin).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 12 figures from 6 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- MGC:66386 (11 images)
Wild Type Expression Summary
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| amyotrophic lateral sclerosis type 12 | Alliance | Amyotrophic lateral sclerosis 12 with or without frontotemporal dementia | 613435 |
| primary open angle glaucoma | Alliance | Glaucoma 1, open angle, E | 137760 |
| {Glaucoma, normal tension, susceptibility to} | 606657 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Additional Resources | Length | NEMO, Zinc finger | NF-kappa-B essential modulator NEMO, CC2-LZ domain | NF-kappa-B essential modulator NEMO, N-terminal | Optineurin/NF-kappa-B Essential Modulator |
|---|---|---|---|---|---|---|
| UniProtKB:A0A8M9Q5S4 | InterPro | 519 | ||||
| UniProtKB:Q5RI56 | InterPro | 517 | ||||
| UniProtKB:A0A8M9QAZ9 | InterPro | 522 |
Interactions and Pathways
No data available
| Name | Type | Antigen Genes | Isotype | Host Organism | Assay | Source | Citations |
|---|---|---|---|---|---|---|---|
| Ab2-optn | polyclonal | Rabbit |
|
Cayman Chemical Company
|
4 |
Plasmids
No data available