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 have K63-linked polyubiquitin modification-dependent protein binding activity. Involved in axonogenesis; defense response to bacterium; and vesicle localization. Predicted to localize to Golgi apparatus and nucleus. Is expressed in several structures, including eye; otic vesicle; 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 12 with or without frontotemporal dementia	613435
		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

Domain Details Per Protein

Protein	Length	NEMO, Zinc finger	NF-kappa-B essential modulator NEMO, CC2-LZ domain	NF-kappa-B essential modulator NEMO, N-terminal
UniProtKB:A0A8M9Q5S4 InterPro	519
UniProtKB:Q5RI56 InterPro	517
UniProtKB:A0A8M9QAZ9 InterPro	522

Transcripts

Genome Browsers

Type	Name	Annotation Method	Length (nt)	Analysis
mRNA	optn-201 (1) Ensembl	Havana	2455 nt	Select Tool ZFIN BLAST NCBI BLAST Ensembl UCSC BLAT
mRNA	optn-202 (1) Ensembl	Havana	1614 nt	Select Tool ZFIN BLAST NCBI BLAST Ensembl UCSC BLAT

Interactions and Pathways

No data available

Antibodies

Name	Type	Antigen Genes	Isotype	Host Organism	Assay	Source	Citations
Ab2-optn	polyclonal	optn		Rabbit	WB	Cayman Chemical Company	4

Plasmids

No data available

Constructs

Marker Relationships

Sequences

Orthology

Comparative Orthology: Alliance
Gene Tree: Ensembl

Citations