Selected-GenAtlas references	SOURCE	GeneCards	NCBI Gene	Swiss-Prot	Orphanet	Ensembl
	HGNC	UniGene	Nucleotide	OMIM		UCSC

Home Page

FLASH GENE

Symbol

OPTN

contributors: mct/npt/pgu - updated : 24-10-2015

HGNC name	optineurin
HGNC id	17142

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

GLC1E , ALS12

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional     --other   in Huntington disease optineurin is present in intranuclear, neuropil and perikaryal inclusions

Susceptibility

to glaucoma with normal tension to Paget disease

Variant & Polymorphism other	variant M98K modifying initial intraocular pression in patients with primary open angle glaucoma
	rs1561570 strongly associated with Paget disease

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS