Gene
|
Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
|
10133 |
Gene nameGene Name - the full gene name approved by the HGNC.
|
Optineurin |
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
|
OPTN |
SynonymsGene synonyms aliases
|
ALS12, FIP2, GLC1E, HIP7, HYPL, NRP, TFIIIA-INTP |
ChromosomeChromosome number
|
10 |
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
|
10p13 |
SummarySummary of gene provided in NCBI Entrez Gene.
|
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 |
SNPsSNP information provided by dbSNP.
|
SNP ID |
Visualize variation |
Clinical significance |
Consequence |
rs11258194 |
T>A |
Pathogenic, benign-likely-benign, risk-factor, benign |
Missense variant, coding sequence variant |
rs28939688 |
G>A |
Pathogenic |
Missense variant, coding sequence variant |
rs75654767 |
G>A |
Pathogenic, benign, likely-benign, conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant |
rs140599944 |
G>A,T |
Uncertain-significance, likely-pathogenic |
Stop gained, missense variant, coding sequence variant |
rs142812715 |
A>T |
Pathogenic, uncertain-significance |
Missense variant, coding sequence variant |
rs267606928 |
C>G,T |
Pathogenic |
Coding sequence variant, stop gained, missense variant |
rs267606929 |
A>G |
Pathogenic |
Coding sequence variant, missense variant |
rs747481280 |
T>G |
Likely-pathogenic |
Coding sequence variant, missense variant |
rs774258585 |
->AG |
Pathogenic |
Coding sequence variant, frameshift variant |
rs786205611 |
GACAT>- |
Likely-pathogenic |
Coding sequence variant, frameshift variant |
rs867368757 |
A>G |
Likely-pathogenic |
Splice acceptor variant |
rs895824243 |
A>C |
Likely-pathogenic |
Missense variant, coding sequence variant |
rs934287314 |
C>T |
Likely-pathogenic, uncertain-significance |
Coding sequence variant, stop gained |
rs1564354968 |
->AGCT |
Pathogenic |
Frameshift variant, coding sequence variant |
rs1588449569 |
->A |
Likely-pathogenic |
Frameshift variant, coding sequence variant |
|
miRNAmiRNA information provided by mirtarbase database.
|
|
Transcription factors
|
Transcription factor |
Regulation |
Reference |
NFKB1 |
Activation |
19340308 |
RELA |
Activation |
19340308 |
|
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
|
GO ID |
Ontology |
Definition |
Evidence |
Reference |
GO:0000086 |
Process |
G2/M transition of mitotic cell cycle |
TAS |
|
GO:0000139 |
Component |
Golgi membrane |
TAS |
|
GO:0001920 |
Process |
Negative regulation of receptor recycling |
IMP |
22854040 |
GO:0005515 |
Function |
Protein binding |
IPI |
15837803, 16189514, 17500595, 18307994, 19805065, 20174559, 20195357, 20388642, 21516116, 21617041, 21903422, 21988832, 22854040, 23275563, 23414517, 23956131, 24136289, 25026213, 25416956, 25803835, 25910212, 26871637, 27086836, 29892012, 30561431, 31515488, 32296183, 32814053 |
GO:0005634 |
Component |
Nucleus |
IBA |
21873635 |
GO:0005654 |
Component |
Nucleoplasm |
TAS |
|
GO:0005737 |
Component |
Cytoplasm |
IBA |
21873635 |
GO:0005776 |
Component |
Autophagosome |
IEA |
|
GO:0005794 |
Component |
Golgi apparatus |
IBA |
21873635 |
GO:0005794 |
Component |
Golgi apparatus |
IDA |
15837803, 27534431 |
GO:0005802 |
Component |
Trans-Golgi network |
IDA |
20174559 |
GO:0005829 |
Component |
Cytosol |
IDA |
|
GO:0005829 |
Component |
Cytosol |
TAS |
|
GO:0006914 |
Process |
Autophagy |
IEA |
|
GO:0007030 |
Process |
Golgi organization |
IMP |
15837803 |
GO:0007165 |
Process |
Signal transduction |
TAS |
9488477 |
GO:0008022 |
Function |
Protein C-terminus binding |
IPI |
15837803 |
GO:0008219 |
Process |
Cell death |
TAS |
9488477 |
GO:0010508 |
Process |
Positive regulation of autophagy |
IDA |
21617041 |
GO:0016032 |
Process |
Viral process |
IEA |
|
GO:0030674 |
Function |
Protein-macromolecule adaptor activity |
IPI |
25803835 |
GO:0031267 |
Function |
Small GTPase binding |
IPI |
17646400 |
GO:0031593 |
Function |
Polyubiquitin modification-dependent protein binding |
IDA |
21617041 |
GO:0034067 |
Process |
Protein localization to Golgi apparatus |
IBA |
21873635 |
GO:0034067 |
Process |
Protein localization to Golgi apparatus |
IMP |
15837803 |
GO:0034620 |
Process |
Cellular response to unfolded protein |
IMP |
27534431 |
GO:0042802 |
Function |
Identical protein binding |
IPI |
23414517, 24983867, 25416956, 25910212, 26871637, 32296183 |
GO:0043001 |
Process |
Golgi to plasma membrane protein transport |
IMP |
15837803 |
GO:0043122 |
Process |
Regulation of I-kappaB kinase/NF-kappaB signaling |
IBA |
21873635 |
GO:0043124 |
Process |
Negative regulation of I-kappaB kinase/NF-kappaB signaling |
IEA |
|
GO:0045087 |
Process |
Innate immune response |
IEA |
|
GO:0046872 |
Function |
Metal ion binding |
IEA |
|
GO:0048471 |
Component |
Perinuclear region of cytoplasm |
IEA |
|
GO:0050829 |
Process |
Defense response to Gram-negative bacterium |
IMP |
21617041 |
GO:0055038 |
Component |
Recycling endosome membrane |
TAS |
|
GO:0061734 |
Process |
Parkin-mediated stimulation of mitophagy in response to mitochondrial depolarization |
IMP |
25294927 |
GO:0070530 |
Function |
K63-linked polyubiquitin modification-dependent protein binding |
IBA |
21873635 |
GO:0090161 |
Process |
Golgi ribbon formation |
IBA |
21873635 |
GO:0090161 |
Process |
Golgi ribbon formation |
IDA |
15837803 |
GO:0090161 |
Process |
Golgi ribbon formation |
IMP |
27534431 |
GO:1904417 |
Process |
Positive regulation of xenophagy |
IMP |
21617041 |
|
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
|
|
Protein
|
UniProt ID |
Q96CV9 |
Protein 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 |
Protein function |
Plays an important role in the maintenance of the Golgi complex, in membrane trafficking, in exocytosis, through its interaction with myosin VI and Rab8 (PubMed:27534431). Links myosin VI to the Golgi complex and plays an important role in Golgi |
PDB |
2LO4
,
2LUE
,
3VTV
,
3VTW
,
5AAZ
,
5B83
,
5EOA
,
5EOF
,
7CZM
,
9B0B
,
9B0Z
,
9B12
,
9IKQ
|
Family and domains |
Pfam
Accession |
ID |
Position in sequence |
Description |
Type |
PF11577 |
NEMO |
37 → 104 |
NF-kappa-B essential modulator NEMO |
Family |
PF16516 |
CC2-LZ |
408 → 507 |
Leucine zipper of domain CC2 of NEMO, NF-kappa-B essential modulator |
Coiled-coil |
PF18414 |
zf_C2H2_10 |
551 → 576 |
|
Domain |
|
Sequence |
|
Sequence length |
577 |
Interactions |
View interactions |
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
|
|
Associated diseases
|
Causal |
Disease name |
Disease term |
dbSNP ID |
References |
Amyotrophic lateral sclerosis |
Amyotrophic Lateral Sclerosis, Amyotrophic Lateral Sclerosis, Guam Form, AMYOTROPHIC LATERAL SCLEROSIS 12 |
rs267607084, rs312262720, rs312262752, rs121908287, rs121908288, rs29001584, rs28941475, rs121434378, rs386134173, rs386134174, rs80356730, rs80356727, rs4884357, rs80356717, rs80356733, rs80356731, rs80356726, rs267606928, rs267606929, rs1885090126, rs121434591, rs121912431, rs121912432, rs121912433, rs121912434, rs121912435, rs121912440, rs121912436, rs121912437, rs121912438, rs121912439, rs74315452, rs121912442, rs121912443, rs121912444, rs121912446, rs121912447, rs1197141604, rs121912448, rs121912449, rs121912450, rs121912451, rs121912452, rs121912453, rs121912454, rs369600566, rs121912455, rs121912456, rs121912457, rs121912458, rs1555836889, rs121909667, rs121909668, rs121909669, rs121909671, rs121909535, rs121909537, rs121909538, rs121909539, rs121909540, rs121909542, rs121909544, rs80356734, rs367543041, rs80356740, rs80356719, rs80356721, rs80356723, rs80356725, rs387906627, rs387906628, rs387906709, rs387906710, rs387906711, rs387906829, rs387907264, rs387907265, rs387907266, rs312262739, rs312262709, rs312262749, rs200793464, rs147713329, rs312262788, rs397514262, rs63751180, rs587777132, rs730880025, rs730880026, rs730880027, rs368743618, rs730880029, rs730882255, rs730882256, rs786205611, rs121912441, rs199947197, rs780136067, rs772731615, rs879253926, rs879254294, rs764717219, rs886041390, rs750159428, rs753207473, rs267607087, rs767350733, rs778305085, rs1554707680, rs1554707622, rs1393363759, rs750959420, rs1555509569, rs1554716504, rs11556620, rs1247392012, rs142083484, rs140385286, rs749428135, rs371575563, rs1402429085, rs1218712729, rs1555179091, rs1555179087, rs746971952, rs1555836950, rs368276916, rs140376902, rs747220413, rs76731700, rs770684782, rs1200906022, rs1804449, rs1482760341, rs769898852, rs140599944, rs757972700, rs1555451521, rs1592362719, rs1555836803, rs763455928, rs1378590183, rs1583695322, rs1362178149, rs1197928094, rs368751524, rs1555509609, rs1574787779, rs1601157750, rs1301635320, rs1341055534, rs1402092579, rs1568809172, rs1555836170, rs1315541036, rs1339283341, rs1643659556, rs1644506661, rs1435710212, rs1553122918, rs1689580631, rs374047961, rs775935265, rs2076486420, rs1820836522, rs757260058, rs1844420892, rs1833371664, rs1833438306, rs1833451208, rs2083790483, rs1303294230, rs1226110412, rs2053207945, rs2053208751, rs2053501632, rs2053539304, rs1567479067, rs544088874, rs1228194239, rs1568807400, rs1169198442, rs2049594204, rs2049594311, rs1568810641, rs1568811372, rs2049618449, rs1476760624, rs2079347087 |
21059646, 24085347, 25096716, 25096716, 21059646, 27534431, 20428114 |
Glaucoma |
Glaucoma, Open-Angle, Glaucoma, Primary Open Angle |
rs121918355, rs1566660365, rs1566635134, rs121918356, rs1566634475, rs28936700, rs55771538, rs28936701, rs104893622, rs55989760, rs72549387, rs104893628, rs2125316417, rs104893629, rs74315328, rs121909193, rs74315330, rs74315329, rs74315332, rs74315334, rs74315336, rs74315338, rs74315341, rs121909194, rs74315331, rs1558603396, rs387907175, rs587778873, rs587778875, rs104894979, rs137854895, rs766425037, rs72549380, rs148542782, rs541217363, rs753021890, rs771076928, rs56010818, rs777678299, rs1446110883, rs1573274915, rs1587545234, rs751768343, rs944452644 |
25096716, 21059646, 17389490, 11834836, 15557444, 21059646, 15226658, 25096716, 14597044, 20085643, 23669351, 25681989, 15326130, 12939304, 22854040, 24752605 |
Motor neuron disease |
Motor Neuron Disease |
rs121912431, rs121912439, rs121912437, rs80356719, rs121912441, rs1131690782, rs1131690775, rs895824243, rs1131690781 |
28089114 |
Myopia |
Myopia |
rs387907109, rs146936371, rs587776903, rs786205127, rs398122836, rs199624584, rs587777625, rs786205216, rs758872875, rs764211125, rs1135402746, rs765658563, rs1555941129, rs1555941116, rs199923805, rs782555528, rs1554862601, rs1586620121, rs1387950081, rs2051026773, rs1422332023 |
|
Open angle glaucoma |
GLAUCOMA 1, OPEN ANGLE, E, NON RARE IN EUROPE: Primary adult open-angle glaucoma, Secondary Open Angle Glaucoma |
rs28939688, rs74315328, rs121909193, rs74315330, rs74315329, rs74315332, rs74315334, rs74315336, rs74315338, rs74315341, rs121909194, rs74315331, rs137854858, rs201794655, rs750643216, rs200148764, rs139006752, rs1057519378, rs1553534421, rs774258585 |
25096716, 21059646 |
Paget disease |
Osteitis Deformans, Paget Disease |
rs796051862, rs796051869, rs796051870, rs796052213, rs1555767678, rs869025582 |
21623375, 20436471, 21059646, 21623375, 20436471 |
|
Unknown |
Disease name |
Disease term |
dbSNP ID |
References |
Amyotrophic lateral sclerosis with dementia |
Amyotrophic Lateral Sclerosis With Dementia |
|
25096716, 21059646 |
Anxiety disorder |
Anxiety |
|
|
Dysarthria |
Dysarthria |
|
|
Dysphagia |
Deglutition Disorders |
|
|
Laryngospasm |
Laryngospasm |
|
|
Mental depression |
Depressive disorder |
rs587778876, rs587778877 |
|
Mood swings |
Mood swings |
|
|
Respiratory failure |
Respiratory Failure |
|
|
|
|
|