Hs05184335_cn

• Gene Symbol: OPTN
• Assay Reference Genome Location: Chr.10:13104063 on build GRCh38
• Cytoband: 10p13

Target Gene Details

• Entrez Gene ID: 10133
• Gene Name: optineurin
• Gene Aliases: ALS12, FIP2, GLC1E, HIP7, HYPL, NRP, TFIIIA-INTP
• Location: Chr.10:13100082-13138276 on Build GRCh38
• Assay Gene Location: Within Intron 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
OPTN	NM_001008211.1			NP_001008212.1
	NM_001008212.1			NP_001008213.1
	NM_001008213.1			NP_001008214.1
	NM_021980.4			NP_068815.2
	AF061034.1			AAC16046.1
	AF420371.1			AAL76327.1
	AF420372.1			AAL76328.1
	AF420373.1			AAL76329.1
	AK055403.1
	AK303715.1
	AK316171.1
	BC013876.2			AAH13876.1
	BC032762.1			AAH32762.1

Target Copy Number Variation Details

• DGV Version: Release date: 2016-05-15, GRCh GRCh38

Target Variation	Location	CNV Subtype	Genes
nsv947740	Chr.10:13104039 - 13105540 on Build GRCh38	Duplication	OPTN
esv2762845	Chr.10:13087065 - 13142762 on Build GRCh38	Loss	OPTN CCDC3

More Information

• Set Membership: Intragenic, Intronic, Non-exonic, DGV Variation

Gene Ontology Categories:

Process(es)

protein targeting to Golgi
G2/M transition of mitotic cell cycle
negative regulation of receptor recycling
Golgi organization
signal transduction
cell death
macroautophagy
Golgi to plasma membrane protein transport
regulation of I-kappaB kinase/NF-kappaB signaling
negative regulation of I-kappaB kinase/NF-kappaB signaling
defense response to Gram-negative bacterium
parkin-mediated mitophagy in response to mitochondrial depolarization
Golgi ribbon formation
xenophagy

Function(s)

protein binding
protein C-terminus binding
Rab GTPase binding
protein binding, bridging
polyubiquitin binding
identical protein binding
K63-linked polyubiquitin binding