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OPTN (optineurin)

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
miRNAmiRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT019128 hsa-miR-335-5p Microarray 18185580
MIRT021455 hsa-miR-9-5p Microarray 17612493
MIRT050845 hsa-miR-17-5p CLASH 23622248
MIRT050771 hsa-miR-17-3p CLASH 23622248
MIRT049818 hsa-miR-92a-3p CLASH 23622248
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
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM
HGNC
e!Ensembl
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
MSHQPLSCLTEKEDSPSESTGNGPPHLAHPNLDTFTPEELLQQMKELLTENHQLKEAMKL
NNQAMKGRFEELSAWTEKQKEERQFFEIQSKEAKERLMALSHEN
EKLKEELGKLKGKSER
SSEDPTDDSRLPRAEAEQEKDQLRTQVVRLQAEKADLLGIVSELQLKLNSSGSSEDSFVE
IRMAEGEAEGSVKEIKHSPGPTRTVSTGTALSKYRSRSADGAKNYFEHEELTVSQLLLCL
REGNQKVERLEVALKEAKERVSDFEKKTSNRSEIETQTEGSTEKENDEEKGPETVGSEVE
ALNLQVTSLFKELQEAHTKLSEAELMKKRLQEKCQALERKNSAIPSELNEKQELVYTNKK
LELQVESMLSEIKMEQAKTEDEKSKLTVLQMTHNKLLQEHNNALKTIEELTRKESEKVDR
AVLKELSEKLELAEKALASKQLQMDEMKQTIAKQEEDLETMTILRAQMEVYCSDFHAERA
AREKIHEEKEQLALQLAVLLKENDAFE
DGGRQSLMEMQSRHGARTSDSDQQAYLVQRGAE
DRDWRQQRNIPIHSCPKCGEVLPDIDTLQIHVMDCII
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.
 
KEGG
 
Reactome
  Mitophagy - animal
Autophagy - animal
Amyotrophic lateral sclerosis
Pathways of neurodegeneration - multiple diseases
  Regulation of PLK1 Activity at G2/M Transition
TBC/RABGAPs
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
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

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