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; periocular mesenchyme; pleuroperitoneal region; and yolk syncytial layer. 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

Expression

All Expression Data

12 figures from 6 publications

Cross-Species Comparison

High Throughput Data

GEO (1)

Expression Atlas

UO scRNA-seq (UCSC browser)

Single Cell Expression Atlas

Daniocell

Thisse Expression Data

MGC:66386 (11 images)

Wild Type Expression Summary

Phenotype

All Phenotype Data: 6 figures from 2 publications
Cross-Species Comparison: Alliance

Phenotype Summary

Mutations

Mutants

Sequence Targeting Reagents

Human Disease

Associated With optn Human Ortholog

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

Associated With optn Via Experimental Models

No data available

Gene Ontology

Protein Domains

Domain, Family, and Site Summary

Type	InterPro ID	Name
Domain	IPR021063	NF-kappa-B essential modulator NEMO, N-terminal
Domain	IPR032419	NF-kappa-B essential modulator NEMO, CC2-LZ domain
Domain	IPR034735	NEMO, Zinc finger
Family	IPR051301	Optineurin/NF-kappa-B Essential Modulator