• Gene id: 10133

Gene Summary

• Gene Symbol: OPTN   Gene   UCSC   Ensembl
• Aliases: ALS12, FIP2, GLC1E, HIP7, HYPL, NRP, TFIIIA-INTP
• Gene name: optineurin
• Alternate names: optineurin, E3-14.7K-interacting protein, FIP-2, HIP-7, Huntingtin interacting protein L, huntingtin yeast partner L, huntingtin-interacting protein 7, huntingtin-interacting protein L, nemo-related protein, optic neuropathy-inducing protein, transcription factor I,
• Gene location: 10p13 (13100081: 13138307)     Exons: 16     NC_000010.11
• Gene summary(Entrez): This gene encodes the coiled-coil containing protein optineurin. Optineurin may play a role in normal-tension glaucoma and adult-onset primary open angle glaucoma. Optineurin interacts with adenovirus E3-14.7K protein and may utilize tumor necrosis factor
• OMIM: 602432

Protein Summary

• Protein general information: Q96CV9  
  • Name: Optineurin (E3 14.7K interacting protein) (FIP 2) (Huntingtin yeast partner L) (Huntingtin interacting protein 7) (HIP 7) (Huntingtin interacting protein L) (NEMO related protein) (Optic neuropathy inducing protein) (Transcription factor IIIA interacting
  • Length: 577  
  • Mass: 65922
  • Tissue specificity: Present in aqueous humor of the eye (at protein level). Highly expressed in trabecular meshwork. Expressed nonpigmented ciliary epithelium, retina, brain, adrenal cortex, fetus, lymphocyte, fibroblast, skeletal muscle, heart, liver, br
• Sequence:

  MSHQPLSCLTEKEDSPSESTGNGPPHLAHPNLDTFTPEELLQQMKELLTENHQLKEAMKLNNQAMKGRFEELSAW
  TEKQKEERQFFEIQSKEAKERLMALSHENEKLKEELGKLKGKSERSSEDPTDDSRLPRAEAEQEKDQLRTQVVRL
  QAEKADLLGIVSELQLKLNSSGSSEDSFVEIRMAEGEAEGSVKEIKHSPGPTRTVSTGTALSKYRSRSADGAKNY
  FEHEELTVSQLLLCLREGNQKVERLEVALKEAKERVSDFEKKTSNRSEIETQTEGSTEKENDEEKGPETVGSEVE
  ALNLQVTSLFKELQEAHTKLSEAELMKKRLQEKCQALERKNSAIPSELNEKQELVYTNKKLELQVESMLSEIKME
  QAKTEDEKSKLTVLQMTHNKLLQEHNNALKTIEELTRKESEKVDRAVLKELSEKLELAEKALASKQLQMDEMKQT
  IAKQEEDLETMTILRAQMEVYCSDFHAERAAREKIHEEKEQLALQLAVLLKENDAFEDGGRQSLMEMQSRHGART
  SDSDQQAYLVQRGAEDRDWRQQRNIPIHSCPKCGEVLPDIDTLQIHVMDCII

• Structural information:
  • Interpro: IPR032419  IPR021063  IPR034735  IPR032939  
  • Prosite: PS51801
  • PDB: 2LO4 2LUE 3VTV 3VTW 5AAZ 5B83 5EOA 5EOF
  • PDBsum: 2LO4 2LUE 3VTV 3VTW 5AAZ 5B83 5EOA 5EOF
  • DIP: 42001
  • STRING: ENSP00000368022
• Other Databases: GeneCards:  OPTN  Malacards:  OPTN

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0030674	protein-macromolecule adaptor activity	IPI	molecular function
GO:1904417	positive regulation of xenophagy	IMP	biological process
GO:0061734	parkin-mediated stimulation of mitophagy in response to mitochondrial depolarization	IMP	biological process
GO:0005794	Golgi apparatus	IBA	cellular component
GO:0034067	protein localization to Golgi apparatus	IBA	biological process
GO:0043122	regulation of I-kappaB kinase/NF-kappaB signaling	IBA	biological process
GO:0090161	Golgi ribbon formation	IBA	biological process
GO:0005634	nucleus	IBA	cellular component
GO:0005737	cytoplasm	IBA	cellular component
GO:0070530	K63-linked polyubiquitin modification-dependent protein binding	IBA	molecular function
GO:0031593	polyubiquitin modification-dependent protein binding	IDA	molecular function
GO:0005794	Golgi apparatus	IDA	cellular component
GO:0090161	Golgi ribbon formation	IDA	biological process
GO:0005802	trans-Golgi network	IDA	cellular component
GO:0090161	Golgi ribbon formation	IMP	biological process
GO:0001920	negative regulation of receptor recycling	IMP	biological process
GO:0050829	defense response to Gram-negative bacterium	IMP	biological process
GO:0034620	cellular response to unfolded protein	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0016192	vesicle-mediated transport	IEA	biological process
GO:0031410	cytoplasmic vesicle	IEA	cellular component
GO:0006914	autophagy	IEA	biological process
GO:0070530	K63-linked polyubiquitin modification-dependent protein binding	IEA	molecular function
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0031410	cytoplasmic vesicle	IEA	cellular component
GO:0005768	endosome	IEA	cellular component
GO:0045087	innate immune response	IEA	biological process
GO:0002376	immune system process	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0006914	autophagy	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0016032	viral process	IEA	biological process
GO:0005737	cytoplasm	TAS	cellular component
GO:0008219	cell death	TAS	biological process
GO:0007165	signal transduction	TAS	biological process
GO:0000086	G2/M transition of mitotic cell cycle	TAS	biological process
GO:0000139	Golgi membrane	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0055038	recycling endosome membrane	TAS	cellular component
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0048471	perinuclear region of cytoplasm	IEA	cellular component
GO:0043124	negative regulation of I-kappaB kinase/NF-kappaB signaling	IEA	biological process
GO:0070530	K63-linked polyubiquitin modification-dependent protein binding	IEA	molecular function
GO:0034613	cellular protein localization	IEA	biological process
GO:0048471	perinuclear region of cytoplasm	IEA	cellular component
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0055037	recycling endosome	IEA	cellular component
GO:0005776	autophagosome	IEA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0010508	positive regulation of autophagy	IDA	biological process
GO:0005794	Golgi apparatus	IDA	cellular component
GO:0043001	Golgi to plasma membrane protein transport	IMP	biological process
GO:0007030	Golgi organization	IMP	biological process
GO:0008022	protein C-terminus binding	IPI	molecular function
GO:0017137	Rab GTPase binding	IPI	molecular function
GO:0017137	Rab GTPase binding	IPI	molecular function
GO:0034067	protein localization to Golgi apparatus	IMP	biological process

KEGG pathways

Pathway id	Pathway name
hsa04137	Mitophagy - animal

Diseases

Associated diseases	References
Amyotrophic lateral sclerosis	KEGG:H00058
Primary open angle glaucoma	KEGG:H00612
Amyotrophic lateral sclerosis	KEGG:H00058
Primary open angle glaucoma	KEGG:H00612
open-angle glaucoma	PMID:11834836
open-angle glaucoma	PMID:14627677
primary open angle glaucoma	PMID:15226658
primary open angle glaucoma	PMID:15557444
Huntington's disease	PMID:22318854
low tension glaucoma	PMID:16148883
low tension glaucoma	PMID:15226658
low tension glaucoma	PMID:15557444
Glaucoma	PMID:16148883
Amyotrophic lateral sclerosis	PMID:21825243
Amyotrophic lateral sclerosis	PMID:21613650
Paget's disease of bone	PMID:20436471
Progressive myoclonus epilepsy	PMID:22318854
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq