OPTN (optineurin) - Rat Genome Database

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Gene: OPTN (optineurin) Homo sapiens
Analyze
Symbol: OPTN
Name: optineurin
RGD ID: 736202
HGNC Page HGNC:17142
Description: Enables identical protein binding activity; polyubiquitin modification-dependent protein binding activity; and protein-macromolecule adaptor activity. Involved in several processes, including Golgi to plasma membrane protein transport; negative regulation of receptor recycling; and positive regulation of xenophagy. Located in cytosol and trans-Golgi network. Implicated in Paget's disease of bone; amyotrophic lateral sclerosis (multiple); and glaucoma (multiple). Biomarker of Huntington's disease; amyotrophic lateral sclerosis; neuronal intranuclear inclusion disease; and progressive myoclonus epilepsy.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: ALS12; E3-14.7K-interacting protein; FIP-2; FIP2; GLC1E; HIP-7; HIP7; Huntingtin interacting protein L; huntingtin yeast partner L; huntingtin-interacting protein 7; huntingtin-interacting protein L; HYPL; nemo-related protein; NRP; optic neuropathy-inducing protein; TFIIIA-INTP; transcription factor IIIA-interacting protein; transcrption factor IIIA-interacting protein; tumor necrosis factor alpha-inducible cellular protein containing leucine zipper domains
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381013,100,082 - 13,138,308 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1013,099,449 - 13,138,308 (+)EnsemblGRCh38hg38GRCh38
GRCh371013,142,082 - 13,180,308 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361013,182,088 - 13,220,282 (+)NCBINCBI36Build 36hg18NCBI36
Build 341013,182,087 - 13,220,282NCBI
Celera1013,068,965 - 13,107,102 (+)NCBICelera
Cytogenetic Map10p13NCBI
HuRef1013,055,075 - 13,092,916 (+)NCBIHuRef
CHM1_11013,142,092 - 13,180,464 (+)NCBICHM1_1
T2T-CHM13v2.01013,114,413 - 13,152,929 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


1 to 20 of 29 rows

  
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
OPTNHumanamyotrophic lateral sclerosis  IAGP 6480506DNA:deletion more ...RGD 
OPTNHumanamyotrophic lateral sclerosis  IEP 6480502protein:increased expression:spinal cord and neuronRGD 
OPTNHumanamyotrophic lateral sclerosis  IAGP 6480504DNA:missense mutations more ...RGD 
OPTNHumanbladder neck obstruction  ISOOptn (Rattus norvegicus)7775024protein:increased expression:urinary bladder:RGD 
OPTNHumanCOVID-19  HEP 30296672mRNA:increased expression:bronchoalveolar lavage (human)RGD 
OPTNHumanDental Pulp Exposure  ISOOptn (Rattus norvegicus)7775038mRNA:increased expression:dental pulp (rat)RGD 
OPTNHumanexfoliation syndrome no_associationIAGP 6480509DNA:polymorphism: :p.M98K (human)RGD 
OPTNHumanFrontotemporal Lobar Degeneration  IEP 6480505 RGD 
OPTNHumanglaucoma susceptibilityIAGP 7771548DNA:SNP:intron:RGD 
OPTNHumanHuntington's disease  IEP 6480499protein:increased expression:neuron and nucleusRGD 
OPTNHumanlow tension glaucoma susceptibilityIAGP 7771548DNA:SNPs:exon and introns:RGD 
OPTNHumanlow tension glaucoma susceptibilityIAGP 7775041DNA:polymorphisms more ...RGD 
OPTNHumanlow tension glaucoma susceptibilityIAGP 7775043DNA:polymorphism:exon:p.M98K(human)RGD 
OPTNHumanneuronal intranuclear inclusion disease  IEP 6480499protein:increased expression:neuron and nucleusRGD 
OPTNHumanopen-angle glaucoma no_associationIAGP 6480509DNA:polymorphism: :p.M98K (human)RGD 
OPTNHumanopen-angle glaucoma  IAGP 6480510DNA:polymorphism: :p.M98K (human)RGD 
OPTNHumanopen-angle glaucoma no_associationIAGP 6480513DNA:missense mutations and SNP: :multipleRGD 
OPTNHumanopen-angle glaucoma  IAGP 1600995 RGD 
OPTNHumanPaget's disease of bone  IAGP 6480512DNA:SNP: :rs1561570 (human)RGD 
OPTNHumanParkinson's disease  ISOOptn (Rattus norvegicus)13432580protein:increased expression:substantia nigra (rat)RGD 
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Object Symbol
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Original Reference(s)
OPTNHumanamyotrophic lateral sclerosis  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Amyotrophic lateral sclerosisClinVarPMID:17576681 more ...
OPTNHumanamyotrophic lateral sclerosis  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Amyotrophic lateral sclerosisClinVarPMID:25741868
OPTNHumanamyotrophic lateral sclerosis  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Amyotrophic lateral sclerosisClinVarPMID:25741868 and PMID:28492532
OPTNHumanamyotrophic lateral sclerosis type 10  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 10ClinVarPMID:20428114 more ...
OPTNHumanamyotrophic lateral sclerosis type 12  IAGP (Homo sapiens) more ...8554872ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 12ClinVarPMID:25741868
OPTNHumanamyotrophic lateral sclerosis type 12  IAGP (Homo sapiens) and (Homo sapiens)8554872ClinVar more ...ClinVarPMID:20428114 more ...
OPTNHumanamyotrophic lateral sclerosis type 12  IAGP (Homo sapiens) more ...8554872ClinVar more ...ClinVarPMID:28492532
OPTNHumanamyotrophic lateral sclerosis type 12  IAGP (Homo sapiens) more ...8554872ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 12ClinVar 
OPTNHumanamyotrophic lateral sclerosis type 12  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 12ClinVarPMID:22708870 more ...
OPTNHumanamyotrophic lateral sclerosis type 12  IAGP (Homo sapiens) more ...8554872ClinVar more ...ClinVarPMID:25741868 and PMID:28492532
OPTNHumanamyotrophic lateral sclerosis type 12  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 12ClinVarPMID:16199547 more ...
OPTNHumanamyotrophic lateral sclerosis type 12  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 12ClinVarPMID:25741868 more ...
OPTNHumanamyotrophic lateral sclerosis type 12  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 12ClinVarPMID:28492532 and PMID:36133075
OPTNHumanamyotrophic lateral sclerosis type 12  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 12ClinVarPMID:11834836 more ...
OPTNHumanamyotrophic lateral sclerosis type 12  IAGP (Homo sapiens) and (Homo sapiens)8554872ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 12ClinVarPMID:25741868 more ...
OPTNHumanamyotrophic lateral sclerosis type 12  IAGP (Homo sapiens) and (Homo sapiens)8554872ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 12ClinVarPMID:20428114
OPTNHumanamyotrophic lateral sclerosis type 12  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 12ClinVarPMID:20428114 more ...
OPTNHumanamyotrophic lateral sclerosis type 12  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 12ClinVarPMID:14597044 and PMID:28492532
OPTNHumanamyotrophic lateral sclerosis type 12  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 12ClinVarPMID:20428114 and PMID:25741868
OPTNHumanamyotrophic lateral sclerosis type 12  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 12ClinVarPMID:11834836 more ...
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Object Symbol
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Source
Original Reference(s)
OPTNHumanamyotrophic lateral sclerosis  EXP 11554173CTD Direct Evidence: marker/mechanismCTDPMID:21059646 and PMID:25096716
OPTNHumanopen-angle glaucoma  EXP 11554173CTD Direct Evidence: marker/mechanismCTDPMID:21059646 and PMID:25096716
OPTNHumanPaget's disease of bone  EXP 11554173CTD Direct Evidence: marker/mechanismCTDPMID:20436471 and PMID:21059646
Object Symbol
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Term
Qualifier
Evidence
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Reference
Notes
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Original Reference(s)
OPTNHumanlow tension glaucoma  ISSOptn (Mus musculus)13592920 MouseDO 
Object Symbol
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Original Reference(s)
OPTNHumanamyotrophic lateral sclerosis type 12  IAGP 7240710 OMIM 
OPTNHumanNormal Tension Glaucoma  IAGP 7240710 OMIM 
OPTNHumanprimary open angle glaucoma  IAGP 7240710 OMIM 

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Original Reference(s)
OPTNHuman(1->4)-beta-D-glucan multiple interactionsISOOptn (Mus musculus)6480464[perfluorooctane sulfonic acid co-treated with Cellulose] results in decreased expression of OPTN mRNACTDPMID:36331819
OPTNHuman1,1-dichloroethene increases expressionISOOptn (Mus musculus)6480464vinylidene chloride results in increased expression of OPTN mRNACTDPMID:26682919
OPTNHuman17beta-estradiol decreases expressionEXP 6480464Estradiol results in decreased expression of OPTN mRNACTDPMID:23019147
OPTNHuman2,2',4,4',5,5'-hexachlorobiphenyl multiple interactionsISOOptn (Mus musculus)64804642 more ...CTDPMID:32352317
OPTNHuman2,2',4,4'-Tetrabromodiphenyl ether affects expressionISOOptn (Mus musculus)64804642 more ...CTDPMID:30294300
OPTNHuman2,3,7,8-tetrachlorodibenzodioxine affects expressionISOOptn (Rattus norvegicus)6480464Tetrachlorodibenzodioxin affects the expression of OPTN mRNACTDPMID:22298810 and PMID:34747641
OPTNHuman2,3,7,8-tetrachlorodibenzodioxine increases expressionISOOptn (Rattus norvegicus)6480464Tetrachlorodibenzodioxin results in increased expression of OPTN mRNACTDPMID:33387578
OPTNHuman2,3,7,8-tetrachlorodibenzodioxine increases expressionEXP 6480464Tetrachlorodibenzodioxin results in increased expression of OPTN mRNACTDPMID:20106945 more ...
OPTNHuman2,3,7,8-tetrachlorodibenzodioxine affects expressionISOOptn (Mus musculus)6480464Tetrachlorodibenzodioxin affects the expression of OPTN mRNACTDPMID:21570461
OPTNHuman2,3,7,8-tetrachlorodibenzodioxine multiple interactionsISOOptn (Rattus norvegicus)6480464AHR protein alternative form affects the reaction [Tetrachlorodibenzodioxin results in decreased expression of OPTN mRNA]CTDPMID:21215274
OPTNHuman2,3,7,8-tetrachlorodibenzodioxine decreases expressionISOOptn (Rattus norvegicus)6480464Tetrachlorodibenzodioxin results in decreased expression of OPTN mRNACTDPMID:21215274
OPTNHuman2,6-dimethoxyphenol multiple interactionsEXP 6480464[Furaldehyde co-treated with pyrogallol 1 more ...CTDPMID:38598786
OPTNHuman2,6-dinitrotoluene affects expressionISOOptn (Rattus norvegicus)64804642 and 6-dinitrotoluene affects the expression of OPTN mRNACTDPMID:21346803
OPTNHuman2-butoxyethanol increases expressionISOOptn (Mus musculus)6480464n-butoxyethanol results in increased expression of OPTN mRNACTDPMID:19812364
OPTNHuman3'-amino-3'-deoxy-N(6),N(6)-dimethyladenosine increases expressionISOOptn (Rattus norvegicus)6480464Puromycin Aminonucleoside results in increased expression of OPTN proteinCTDPMID:25096716
OPTNHuman3'-amino-3'-deoxy-N(6),N(6)-dimethyladenosine increases expressionEXP 6480464Puromycin Aminonucleoside results in increased expression of OPTN proteinCTDPMID:25096716
OPTNHuman3,3',4,4',5-pentachlorobiphenyl decreases expressionISOOptn (Rattus norvegicus)64804643 more ...CTDPMID:23196670
OPTNHuman3,3',4,4',5-pentachlorobiphenyl increases expressionISOOptn (Rattus norvegicus)64804643 more ...CTDPMID:32119087
OPTNHuman5-aza-2'-deoxycytidine affects expressionEXP 6480464Decitabine affects the expression of OPTN mRNACTDPMID:23300844
OPTNHuman5-fluorouracil affects response to substanceEXP 6480464OPTN protein affects the susceptibility to FluorouracilCTDPMID:16217747

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Biological Process
1 to 20 of 34 rows

  
Object Symbol
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Term
Qualifier
Evidence
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Original Reference(s)
OPTNHumanautophagy involved_inIEAUniProtKB-KW:KW-0072150520179 UniProtGO_REF:0000043
OPTNHumancellular response to hydrogen peroxide  ISOOptn (Rattus norvegicus)9068941 RGDPMID:28776281 and REF_RGD_ID:13432574
OPTNHumancellular response to L-glutamate  ISOOptn (Rattus norvegicus)9068941 RGDPMID:28761318 and REF_RGD_ID:13432138
OPTNHumancellular response to nerve growth factor stimulus  ISOOptn (Rattus norvegicus)9068941 RGDPMID:17663725 and REF_RGD_ID:7401258
OPTNHumancellular response to tumor necrosis factor  ISOOptn (Rattus norvegicus)9068941 RGDPMID:28776281 and REF_RGD_ID:13432574
OPTNHumancellular response to unfolded protein involved_inIMP 150520179 PMID:27534431UniProtPMID:27534431
OPTNHumancytokine production  ISOOptn (Rattus norvegicus)9068941 RGDPMID:21896272 and REF_RGD_ID:7775054
OPTNHumandefense response to Gram-negative bacterium involved_inIMP 150520179 PMID:21617041UniProtPMID:21617041
OPTNHumanGolgi organization  ISOOptn (Rattus norvegicus)9068941 RGDPMID:21896272 and REF_RGD_ID:7775054
OPTNHumanGolgi organization involved_inIMP 150520179 PMID:15837803UniProtPMID:15837803
OPTNHumanGolgi ribbon formation involved_inIMP 150520179 PMID:27534431UniProtPMID:27534431
OPTNHumanGolgi ribbon formation involved_inIBAPANTHER:PTN002835054 and UniProtKB:Q96CV9150520179 GO_CentralGO_REF:0000033
OPTNHumanGolgi ribbon formation involved_inIDA 150520179 PMID:15837803UniProtPMID:15837803
OPTNHumanGolgi to plasma membrane protein transport involved_inIMP 150520179 PMID:15837803UniProtPMID:15837803
OPTNHumanimmune system process involved_inIEAUniProtKB-KW:KW-0391150520179 UniProtGO_REF:0000043
OPTNHumaninnate immune response involved_inIEAUniProtKB-KW:KW-0399150520179 UniProtGO_REF:0000043
OPTNHumannegative regulation of canonical NF-kappaB signal transduction acts_upstream_of_or_withinIEAUniProtKB:Q8K3K8 and ensembl:ENSMUSP00000110648150520179 EnsemblGO_REF:0000107
OPTNHumannegative regulation of cell population proliferation  ISOOptn (Rattus norvegicus)9068941kidney cellsRGDPMID:28776281 and REF_RGD_ID:13432574
OPTNHumannegative regulation of neuron apoptotic process  ISOOptn (Rattus norvegicus)9068941 RGDPMID:22194658 and REF_RGD_ID:7775021
OPTNHumannegative regulation of receptor recycling involved_inIMP 150520179 PMID:22854040UniProtPMID:22854040
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Cellular Component
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Object Symbol
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Original Reference(s)
OPTNHumanautophagosome located_inIEAUniProtKB-SubCell:SL-0023150520179 UniProtGO_REF:0000044
OPTNHumanautophagosome located_inIEAUniRule:UR001429776150520179 UniProtGO_REF:0000104
OPTNHumanaxon  ISOOptn (Rattus norvegicus)9068941 RGDPMID:28761318 and REF_RGD_ID:13432138
OPTNHumancytoplasm located_inIEAUniProtKB-KW:KW-0963150520179 UniProtGO_REF:0000043
OPTNHumancytoplasm is_active_inIBAFB:FBgn0041205 more ...150520179 GO_CentralGO_REF:0000033
OPTNHumancytoplasm located_inTAS 150520179 PMID:9488477PINCPMID:9488477
OPTNHumancytoplasmic vesicle located_inIEAUniProtKB-KW:KW-0968150520179 UniProtGO_REF:0000043
OPTNHumancytosol located_inIDA 150520179 HPAGO_REF:0000052
OPTNHumancytosol located_inTAS 150520179 ReactomeReactome:R-HSA-2562526 more ...
OPTNHumanendosome located_inIEAUniProtKB-KW:KW-0967150520179 UniProtGO_REF:0000043
OPTNHumanGolgi apparatus located_inIEAUniProtKB-SubCell:SL-0132150520179 UniProtGO_REF:0000044
OPTNHumanGolgi apparatus is_active_inIBAPANTHER:PTN002835054 more ...150520179 GO_CentralGO_REF:0000033
OPTNHumanGolgi apparatus located_inIEAUniRule:UR001429776150520179 UniProtGO_REF:0000104
OPTNHumanGolgi apparatus located_inIEAUniProtKB-KW:KW-0333150520179 UniProtGO_REF:0000043
OPTNHumanGolgi apparatus located_inIDA 150520179 PMID:15837803 and PMID:27534431UniProtPMID:15837803 and PMID:27534431
OPTNHumanGolgi membrane located_inTAS 150520179 ReactomeReactome:R-HSA-2562526
OPTNHumanneuronal cell body  ISOOptn (Rattus norvegicus)9068941 RGDPMID:28761318 and REF_RGD_ID:13432138
OPTNHumannucleoplasm located_inTAS 150520179 ReactomeReactome:R-HSA-2562594
OPTNHumannucleus is_active_inIBAFB:FBgn0041205 more ...150520179 GO_CentralGO_REF:0000033
OPTNHumanperinuclear region of cytoplasm  ISOOptn (Rattus norvegicus)9068941 RGDPMID:28776281 and REF_RGD_ID:13432574
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Molecular Function
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Object Symbol
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Original Reference(s)
OPTNHumanidentical protein binding  ISOOptn (Rattus norvegicus)9068941homooligomerizationRGDPMID:20161783 and REF_RGD_ID:6480515
OPTNHumanidentical protein binding enablesIPIUniProtKB:Q96CV9150520179 PMID:23414517 more ...IntActPMID:23414517 more ...
OPTNHumanK63-linked polyubiquitin modification-dependent protein binding enablesIEAUniProtKB:Q8K3K8 and ensembl:ENSMUSP00000110648150520179 EnsemblGO_REF:0000107
OPTNHumanK63-linked polyubiquitin modification-dependent protein binding enablesIBAMGI:1338074 more ...150520179 GO_CentralGO_REF:0000033
OPTNHumanK63-linked polyubiquitin modification-dependent protein binding enablesIEAInterPro:IPR034735150520179 InterProGO_REF:0000002
OPTNHumanmetal ion binding enablesIEAUniRule:UR001429776150520179 UniProtGO_REF:0000104
OPTNHumanmetal ion binding enablesIEAUniProtKB-KW:KW-0479150520179 UniProtGO_REF:0000043
OPTNHumanpolyubiquitin modification-dependent protein binding enablesIDA 150520179 PMID:21617041UniProtPMID:21617041
OPTNHumanprotein binding enablesIPIUniProtKB:Q8WXF7 more ...150520179 PMID:32814053IntActPMID:32814053
OPTNHumanprotein binding enablesIPIUniProtKB:P61006 and UniProtKB:Q92930150520179 PMID:17646400UniProtPMID:17646400
OPTNHumanprotein binding enablesIPIUniProtKB:P61006 more ...150520179 PMID:15837803UniProtPMID:15837803
OPTNHumanprotein binding enablesIPIUniProtKB:Q15025 and UniProtKB:Q9Y3C0150520179 PMID:26871637IntActPMID:26871637
OPTNHumanprotein binding enablesIPIUniProtKB:Q15025 more ...150520179 PMID:21516116IntActPMID:21516116
OPTNHumanprotein binding enablesIPIUniProtKB:Q9HA65 and UniProtKB:Q9Y3C0150520179 PMID:16189514IntActPMID:16189514
OPTNHumanprotein binding enablesIPIUniProtKB:Q13501 and UniProtKB:Q8IYU2150520179 PMID:25026213IntActPMID:25026213
OPTNHumanprotein binding enablesIPIUniProtKB:Q8IUH5150520179 PMID:24705354IntActPMID:24705354
OPTNHumanprotein binding enablesIPIUniProtKB:Q15025150520179 PMID:21988832 and PMID:30561431IntActPMID:21988832 and PMID:30561431
OPTNHumanprotein binding enablesIPIUniProtKB:P42858150520179 PMID:17500595 and PMID:23275563IntActPMID:17500595 and PMID:23275563
OPTNHumanprotein binding enablesIPIUniProtKB:P54845-1150520179 PMID:23956131IntActPMID:23956131
OPTNHumanprotein binding enablesIPIUniProtKB:Q15025 more ...150520179 PMID:31515488IntActPMID:31515488
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RGD Manual Annotations


  
Object Symbol
Species
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Original Reference(s)
OPTNHumanmitochondrial autophagy pathway   TAS 10401790 RGD 
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Original Reference(s)
OPTNHumanAbnormality on pulmonary function testing  IAGP 8699517 HPOORPHA:803
OPTNHumanAmyotrophic lateral sclerosis  IAGP 8699517 HPOORPHA:803
OPTNHumanAmyotrophic lateral sclerosis  IAGP 8699517 HPOMIM:613435
OPTNHumanAnxiety  IAGP 8699517 HPOORPHA:803
OPTNHumanAtypical behavior  IAGP 8699517 HPOORPHA:803
OPTNHumanAutosomal dominant inheritance  IAGP 8699517 HPOMIM:613435
OPTNHumanAutosomal dominant inheritance  IAGP 8699517 HPOMIM:137760
OPTNHumanAutosomal recessive inheritance  IAGP 8699517 HPOMIM:613435
OPTNHumanBabinski sign  IAGP 8699517 HPOORPHA:803
OPTNHumanCachexia  IAGP 8699517 HPOORPHA:803
OPTNHumanCognitive impairment  IAGP 8699517 HPOORPHA:803
OPTNHumanDepression  IAGP 8699517 HPOORPHA:803
OPTNHumanDistal amyotrophy  IAGP 8699517 HPOORPHA:803
OPTNHumanDrooling  IAGP 8699517 HPOORPHA:803
OPTNHumanDysarthria  IAGP 8699517 HPOORPHA:803
OPTNHumanDysarthria  IAGP 8699517 HPOMIM:613435
OPTNHumanDysphagia  IAGP 8699517 HPOORPHA:803
OPTNHumanDysphagia  IAGP 8699517 HPOMIM:613435
OPTNHumanDysphonia  IAGP 8699517 HPOORPHA:803
OPTNHumanDyspnea  IAGP 8699517 HPOORPHA:803
1 to 20 of 66 rows
1 to 20 of 382 rows
Object Symbol
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Qualifier
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Original Reference(s)
OPTNHumanAmyotrophic lateral sclerosis  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Amyotrophic lateral sclerosisClinVarPMID:25741868 and PMID:28492532
OPTNHumanAmyotrophic lateral sclerosis  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Amyotrophic lateral sclerosisClinVarPMID:17576681 more ...
OPTNHumanAmyotrophic lateral sclerosis  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Amyotrophic lateral sclerosisClinVarPMID:25741868
OPTNHumanFrontotemporal dementia  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Frontotemporal dementiaClinVarPMID:28492532 and PMID:35873773
OPTNHumanOpen angle glaucoma  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Primary open angle glaucomaClinVarPMID:25741868 more ...
OPTNHumanOpen angle glaucoma  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Primary open angle glaucomaClinVarPMID:17576681 more ...
OPTNHumanOpen angle glaucoma  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Primary open angle glaucomaClinVarPMID:26467025 more ...
OPTNHumanOpen angle glaucoma  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Primary open angle glaucomaClinVarPMID:28492532
OPTNHumanOpen angle glaucoma  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Primary open angle glaucomaClinVarPMID:28492532
OPTNHumanOpen angle glaucoma  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Primary open angle glaucomaClinVarPMID:25741868
OPTNHumanOpen angle glaucoma  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Primary open angle glaucomaClinVarPMID:25741868 and PMID:28492532
OPTNHumanOpen angle glaucoma  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Primary open angle glaucomaClinVarPMID:25741868 and PMID:28492532
OPTNHumanOpen angle glaucoma  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Primary open angle glaucomaClinVarPMID:28492532 and PMID:37133535
OPTNHumanOpen angle glaucoma  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Primary open angle glaucomaClinVarPMID:25741868 and PMID:28492532
OPTNHumanOpen angle glaucoma  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Primary open angle glaucomaClinVarPMID:11834836 more ...
OPTNHumanOpen angle glaucoma  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Primary open angle glaucomaClinVarPMID:25741868
OPTNHumanOpen angle glaucoma  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Primary open angle glaucomaClinVarPMID:28492532
OPTNHumanOpen angle glaucoma  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Primary open angle glaucomaClinVarPMID:25741868 and PMID:28492532
OPTNHumanOpen angle glaucoma  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Primary open angle glaucomaClinVarPMID:28492532
OPTNHumanOpen angle glaucoma  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Primary open angle glaucomaClinVarPMID:28492532
1 to 20 of 382 rows

1 to 20 of 26 rows
#
Reference Title
Reference Citation
1. Genome-wide association study identifies variants at CSF1, OPTN and TNFRSF11A as genetic risk factors for Paget's disease of bone. Albagha OM, etal., Nat Genet. 2010 Jun;42(6):520-4. Epub 2010 May 2.
2. Lack of association between optineurin gene variants T34T, E50K, M98K, 691_692insAG and R545Q and primary open angle glaucoma in Brazilian patients. Caixeta-Umbelino C, etal., Ophthalmic Genet. 2009 Mar;30(1):13-8. doi: 10.1080/13816810802502970.
3. Overexpression of optineurin E50K disrupts Rab8 interaction and leads to a progressive retinal degeneration in mice. Chi ZL, etal., Hum Mol Genet. 2010 Jul 1;19(13):2606-15. Epub 2010 Apr 13.
4. Novel optineurin mutations in patients with familial and sporadic amyotrophic lateral sclerosis. Del Bo R, etal., J Neurol Neurosurg Psychiatry. 2011 Nov;82(11):1239-43. Epub 2011 May 25.
5. Differential involvement of optineurin in amyotrophic lateral sclerosis with or without SOD1 mutations. Deng HX, etal., Arch Neurol. 2011 Aug;68(8):1057-61.
6. The three 'P's of mitophagy: PARKIN, PINK1, and post-translational modifications. Durcan TM and Fon EA, Genes Dev. 2015 May 15;29(10):989-99. doi: 10.1101/gad.262758.115.
7. SNPs and interaction analyses of myocilin, optineurin, and apolipoprotein E in primary open angle glaucoma patients. Fan BJ, etal., Mol Vis. 2005 Aug 29;11:625-31.
8. Variants in optineurin gene and their association with tumor necrosis factor-alpha polymorphisms in Japanese patients with glaucoma. Funayama T, etal., Invest Ophthalmol Vis Sci. 2004 Dec;45(12):4359-67.
9. Molecular genetic analysis of optineurin gene for primary open-angle and normal tension glaucoma in the Japanese population. Fuse N, etal., J Glaucoma. 2004 Aug;13(4):299-303.
10. Optineurin inclusions occur in a minority of TDP-43 positive ALS and FTLD-TDP cases and are rarely observed in other neurodegenerative disorders. Hortobagyi T, etal., Acta Neuropathol. 2011 Apr;121(4):519-27. Epub 2011 Mar 1.
11. Analysis of rare variants and common haplotypes in the optineurin gene in Swedish glaucoma cases. Jansson M, etal., Ophthalmic Genet. 2005 Jun;26(2):85-9.
12. Gel-based protease proteomics for identifying the novel calpain substrates in dopaminergic neuronal cell. Kim C, etal., J Biol Chem. 2013 Dec 20;288(51):36717-32. doi: 10.1074/jbc.M113.492876. Epub 2013 Nov 14.
13. Investigation of early protein changes in the urinary bladder following partial bladder outlet obstruction by proteomic approach. Kim HJ, etal., J Korean Med Sci. 2005 Dec;20(6):1000-5.
14. Optineurin coding variants in Ghanaian patients with primary open-angle glaucoma. Liu Y, etal., Mol Vis. 2008;14:2367-72. Epub 2008 Dec 18.
15. Mutations of optineurin in amyotrophic lateral sclerosis. Maruyama H, etal., Nature. 2010 May 13;465(7295):223-6. Epub 2010 Apr 28.
16. The M98K variant of the OPTINEURIN (OPTN) gene modifies initial intraocular pressure in patients with primary open angle glaucoma. Melki R, etal., J Med Genet. 2003 Nov;40(11):842-4.
17. Optineurin immunoreactivity in neuronal nuclear inclusions of polyglutamine diseases (Huntington's, DRPLA, SCA2, SCA3) and intranuclear inclusion body disease. Mori F, etal., Acta Neuropathol. 2012 Feb 9.
18. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
19. Isolation and expression of FIP-2 in wounded pulp of the rat. Oyama M, etal., J Dent Res. 2005 Sep;84(9):842-7.
20. Adult-onset primary open-angle glaucoma caused by mutations in optineurin. Rezaie T, etal., Science. 2002 Feb 8;295(5557):1077-9.
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1 to 10 of 24 rows
PMID:8619474   PMID:9110174   PMID:9488477   PMID:9497264   PMID:9700202   PMID:10366446   PMID:10756201   PMID:10807909   PMID:11137014   PMID:11495908   PMID:12379221   PMID:12477932  
PMID:12646749   PMID:12811537   PMID:12912697   PMID:12920093   PMID:12939304   PMID:14597044   PMID:14702039   PMID:14740994   PMID:14755458   PMID:15164054   PMID:15231748   PMID:15326130  
PMID:15370540   PMID:15489334   PMID:15498064   PMID:15837803   PMID:15840729   PMID:15851979   PMID:15867431   PMID:16043855   PMID:16091361   PMID:16189514   PMID:16205626   PMID:16358725  
PMID:16374045   PMID:16385451   PMID:16440206   PMID:16681888   PMID:16688110   PMID:16885188   PMID:16885925   PMID:16905101   PMID:16972651   PMID:16988596   PMID:17081983   PMID:17122126  
PMID:17148662   PMID:17293779   PMID:17500595   PMID:17563717   PMID:17615537   PMID:17626244   PMID:17646400   PMID:17663725   PMID:17702576   PMID:17854769   PMID:18029348   PMID:18195223  
PMID:18212736   PMID:18307994   PMID:18385781   PMID:18552856   PMID:18683701   PMID:19145250   PMID:19285159   PMID:19340308   PMID:19609363   PMID:19615732   PMID:19702578   PMID:19710941  
PMID:19754948   PMID:19805065   PMID:20085643   PMID:20161783   PMID:20174559   PMID:20195357   PMID:20301623   PMID:20379614   PMID:20604900   PMID:20634958   PMID:20668460   PMID:20671613  
PMID:20801516   PMID:20839008   PMID:21074290   PMID:21074902   PMID:21148290   PMID:21217154   PMID:21220178   PMID:21284751   PMID:21408173   PMID:21516116   PMID:21550138   PMID:21617041  
PMID:21623375   PMID:21644038   PMID:21764520   PMID:21802176   PMID:21852022   PMID:21862579   PMID:21873635   PMID:21903422   PMID:21988832   PMID:22040667   PMID:22101367   PMID:22364875  
PMID:22365832   PMID:22402017   PMID:22422156   PMID:22675546   PMID:22690120   PMID:22708870   PMID:22796589   PMID:22854040   PMID:22860700   PMID:22863883   PMID:22892313   PMID:23062601  
1 to 10 of 24 rows



OPTN
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381013,100,082 - 13,138,308 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1013,099,449 - 13,138,308 (+)EnsemblGRCh38hg38GRCh38
GRCh371013,142,082 - 13,180,308 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361013,182,088 - 13,220,282 (+)NCBINCBI36Build 36hg18NCBI36
Build 341013,182,087 - 13,220,282NCBI
Celera1013,068,965 - 13,107,102 (+)NCBICelera
Cytogenetic Map10p13NCBI
HuRef1013,055,075 - 13,092,916 (+)NCBIHuRef
CHM1_11013,142,092 - 13,180,464 (+)NCBICHM1_1
T2T-CHM13v2.01013,114,413 - 13,152,929 (+)NCBIT2T-CHM13v2.0
Optn
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm3925,023,902 - 5,069,210 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl25,025,453 - 5,068,862 (-)EnsemblGRCm39 Ensembl
GRCm3825,020,521 - 5,064,399 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl25,020,642 - 5,064,051 (-)EnsemblGRCm38mm10GRCm38
MGSCv3724,941,688 - 4,984,984 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv3624,937,914 - 4,981,210 (-)NCBIMGSCv36mm8
Celera24,975,403 - 5,009,506 (-)NCBICelera
Cytogenetic Map2A1NCBI
cM Map23.15NCBI
Optn
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81778,118,847 - 78,169,543 (+)NCBIGRCr8
mRatBN7.21773,209,572 - 73,260,251 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1773,209,575 - 73,260,251 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1776,713,602 - 76,763,945 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01780,537,897 - 80,588,798 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01774,588,565 - 74,639,381 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01777,167,700 - 77,218,374 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1777,167,740 - 77,218,389 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01778,833,443 - 78,884,464 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41784,298,122 - 84,348,330 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11784,317,800 - 84,359,163 (+)NCBI
Celera1772,649,264 - 72,699,727 (+)NCBICelera
Cytogenetic Map17q12.3NCBI
Optn
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554621,107,510 - 1,151,269 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554621,098,118 - 1,150,291 (+)NCBIChiLan1.0ChiLan1.0
OPTN
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2825,624,996 - 25,661,783 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11025,630,396 - 25,667,111 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01013,104,335 - 13,142,725 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11013,077,345 - 13,115,773 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1013,077,345 - 13,115,773 (+)Ensemblpanpan1.1panPan2
OPTN
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1223,356,471 - 23,390,569 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl223,357,237 - 23,392,511 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha220,366,503 - 20,408,197 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0223,726,267 - 23,767,964 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl223,724,291 - 23,767,912 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1220,852,635 - 20,894,292 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0221,695,361 - 21,737,080 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0222,411,832 - 22,453,523 (-)NCBIUU_Cfam_GSD_1.0
Optn
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_0244093445,225,815 - 5,265,662 (+)NCBIHiC_Itri_2
SpeTri2.0NW_00493710473,340 - 113,179 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
OPTN
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1048,530,843 - 48,582,860 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11048,532,029 - 48,582,952 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21077,689,153 - 77,740,521 (-)NCBISscrofa10.2Sscrofa10.2susScr3
OPTN
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1913,142,036 - 13,176,996 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl913,150,426 - 13,177,021 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366605118,674,614 - 18,710,695 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Optn
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248055,683,021 - 5,721,336 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248055,683,095 - 5,717,558 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

.

.
Variants in OPTN
461 total Variants

1 to 10 of 573 rows
Name
Type
Condition(s)
Position(s)
Clinical significance
NM_001008212.2(OPTN):c.1442C>T (p.Ala481Val) single nucleotide variant Amyotrophic lateral sclerosis type 12 [RCV001106773]|Inborn genetic diseases [RCV002525058]|OPTN-related disorder [RCV004735588]|Primary open angle glaucoma [RCV001106774]|Primary open angle glaucoma [RCV001359911]|not specified [RCV000516745] Chr10:13132107 [GRCh38]
Chr10:13174107 [GRCh37]
Chr10:10p13		 uncertain significance
NM_001008212.2(OPTN):c.148G>A (p.Glu50Lys) single nucleotide variant Glaucoma 1, open angle, E [RCV000007513] Chr10:13109270 [GRCh38]
Chr10:13151270 [GRCh37]
Chr10:10p13		 pathogenic
OPTN, 2-BP INS, 691AG insertion Glaucoma 1, open angle, E [RCV000007514] Chr10:10p15-p14 pathogenic
NM_001008212.2(OPTN):c.1634G>A (p.Arg545Gln) single nucleotide variant Amyotrophic lateral sclerosis type 12 [RCV000301689]|Glaucoma 1, open angle, E [RCV000007515]|OPTN-related disorder [RCV004532306]|Primary open angle glaucoma [RCV000356568]|Primary open angle glaucoma [RCV000559186]|not provided [RCV001610287]|not specified [RCV001289042] Chr10:13136766 [GRCh38]
Chr10:13178766 [GRCh37]
Chr10:10p13		 pathogenic|benign|likely benign|conflicting interpretations of pathogenicity
NM_001008212.2(OPTN):c.293T>A (p.Met98Lys) single nucleotide variant Amyotrophic lateral sclerosis type 12 [RCV000324769]|Glaucoma 1, open angle, E [RCV000007517]|Glaucoma, normal tension, susceptibility to [RCV000007516]|Primary open angle glaucoma [RCV000269750]|Primary open angle glaucoma [RCV001512340]|Primary open angle glaucoma [RCV002490331]|not provided [RCV001705584]|not specified [RCV000177328] Chr10:13110400 [GRCh38]
Chr10:13152400 [GRCh37]
Chr10:10p13		 pathogenic|risk factor|benign|likely benign
NM_001008212.2(OPTN):c.166+349_370-945del deletion Amyotrophic lateral sclerosis type 12 [RCV000007518] Chr10:13109625..13111496 [GRCh38]
Chr10:13151625..13153496 [GRCh37]
Chr10:10p13		 pathogenic
NM_001008212.2(OPTN):c.1192C>T (p.Gln398Ter) single nucleotide variant Amyotrophic lateral sclerosis type 12 [RCV000007519] Chr10:13125989 [GRCh38]
Chr10:13167989 [GRCh37]
Chr10:10p13		 pathogenic
NM_001008212.2(OPTN):c.1433A>G (p.Glu478Gly) single nucleotide variant Amyotrophic lateral sclerosis type 12 [RCV000007520] Chr10:13132098 [GRCh38]
Chr10:13174098 [GRCh37]
Chr10:10p13		 pathogenic
NM_001008212.2(OPTN):c.1401+21C>G single nucleotide variant Primary open angle glaucoma [RCV000544360] Chr10:13127924 [GRCh38]
Chr10:13169924 [GRCh37]
Chr10:10p13		 likely benign
GRCh38/hg38 10p15.3-13(chr10:90421-15569528)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052496]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052496]|See cases [RCV000052496] Chr10:90421..15569528 [GRCh38]
Chr10:224406..15611527 [GRCh37]
Chr10:126361..15651533 [NCBI36]
Chr10:10p15.3-13		 pathogenic
1 to 10 of 573 rows

Predicted Target Of
Summary Value
Count of predictions:3167
Count of miRNA genes:894
Interacting mature miRNAs:1054
Transcripts:ENST00000263036, ENST00000378747, ENST00000378748, ENST00000378752, ENST00000378757, ENST00000378764, ENST00000424614, ENST00000430081, ENST00000469025, ENST00000482140, ENST00000486862, ENST00000487935
Prediction methods:Microtar, Miranda, Rnahybrid
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD ID
Symbol
Name
LOD
P Value
Trait
Sub Trait
Chr
Start
Stop
Species
597616015GWAS1672875_Hosteitis deformans QTL GWAS1672875 (human)1e-13osteitis deformans101312642913126430Human
407051163GWAS700139_Hosteitis deformans QTL GWAS700139 (human)6e-13osteitis deformans101311372613113727Human
407060683GWAS709659_Hosteitis deformans QTL GWAS709659 (human)4e-38osteitis deformans101311372613113727Human
597277827GWAS1373901_Haging QTL GWAS1373901 (human)0.000004aging101311211013112111Human
597104539GWAS1200613_Hfactor VII measurement QTL GWAS1200613 (human)0.000002factor VII measurement101310045713100458Human

A006T03  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371013,179,387 - 13,179,512UniSTSGRCh37
Build 361013,219,393 - 13,219,518RGDNCBI36
Celera1013,106,213 - 13,106,338RGD
Cytogenetic Map10p13UniSTS
HuRef1013,092,027 - 13,092,152UniSTS
GeneMap99-GB4 RH Map1095.24UniSTS
SHGC-63482  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371013,179,251 - 13,179,450UniSTSGRCh37
GRCh371271,999,168 - 71,999,784UniSTSGRCh37
Build 361013,219,257 - 13,219,456RGDNCBI36
Celera1271,661,502 - 71,662,118UniSTS
Celera1013,106,077 - 13,106,276RGD
Cytogenetic Map10p13UniSTS
HuRef1013,091,891 - 13,092,090UniSTS
HuRef1269,048,295 - 69,048,911UniSTS
D10S1295E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371013,151,170 - 13,151,280UniSTSGRCh37
Build 361013,191,176 - 13,191,286RGDNCBI36
Celera1013,078,053 - 13,078,163RGD
Cytogenetic Map10p13UniSTS
HuRef1013,063,827 - 13,063,937UniSTS
RH70007  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371013,179,475 - 13,179,688UniSTSGRCh37
Build 361013,219,481 - 13,219,694RGDNCBI36
Celera1013,106,301 - 13,106,514RGD
Cytogenetic Map10p13UniSTS
HuRef1013,092,115 - 13,092,328UniSTS
GeneMap99-GB4 RH Map1095.14UniSTS
NCBI RH Map10199.2UniSTS
SHGC-133063  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371013,179,296 - 13,179,447UniSTSGRCh37
Build 361013,219,302 - 13,219,453RGDNCBI36
Celera1013,106,122 - 13,106,273RGD
Cytogenetic Map10p13UniSTS
HuRef1013,091,936 - 13,092,087UniSTS
TNG Radiation Hybrid Map1035579.0UniSTS
RH11306  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371013,180,092 - 13,180,271UniSTSGRCh37
Build 361013,220,098 - 13,220,277RGDNCBI36
Celera1013,106,918 - 13,107,097RGD
Cytogenetic Map10p13UniSTS
HuRef1013,092,732 - 13,092,911UniSTS
GeneMap99-GB4 RH Map1095.14UniSTS
D10S1275E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371013,180,090 - 13,180,181UniSTSGRCh37
Build 361013,220,096 - 13,220,187RGDNCBI36
Celera1013,106,916 - 13,107,007RGD
Cytogenetic Map10p13UniSTS
HuRef1013,092,730 - 13,092,821UniSTS
GeneMap99-GB4 RH Map1095.14UniSTS
172  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371013,167,749 - 13,167,818UniSTSGRCh37
Build 361013,207,755 - 13,207,824RGDNCBI36
Celera1013,094,574 - 13,094,643RGD
Cytogenetic Map10p13UniSTS
HuRef1013,080,385 - 13,080,454UniSTS
GeneMap99-GB4 RH Map1094.94UniSTS
NCBI RH Map10194.6UniSTS




adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2439 2788 2252 4974 1726 2351 6 624 1949 465 2270 7305 6471 53 3734 1 852 1744 1617 175 1


1 to 27 of 27 rows
RefSeq Transcripts NG_012876 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001008211 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001008212 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001008213 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_021980 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AF049614 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF061034 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF070533 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF420371 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF420372 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF420373 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH009711 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK055403 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK122746 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK303715 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK316171 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL355355 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC013876 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC032762 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BI552635 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471072 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068268 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF459532 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KT584799 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU178502 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU178503 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU178504 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
1 to 27 of 27 rows

Ensembl Acc Id: ENST00000263036   ⟹   ENSP00000263036
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1013,099,449 - 13,136,923 (+)Ensembl
Ensembl Acc Id: ENST00000378747   ⟹   ENSP00000368021
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1013,100,163 - 13,138,308 (+)Ensembl
Ensembl Acc Id: ENST00000378748   ⟹   ENSP00000368022
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1013,100,173 - 13,138,291 (+)Ensembl
Ensembl Acc Id: ENST00000378752   ⟹   ENSP00000368027
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1013,100,173 - 13,138,291 (+)Ensembl
Ensembl Acc Id: ENST00000378757   ⟹   ENSP00000368032
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1013,100,169 - 13,138,308 (+)Ensembl
Ensembl Acc Id: ENST00000378764   ⟹   ENSP00000368040
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1013,099,603 - 13,137,129 (+)Ensembl
Ensembl Acc Id: ENST00000424614   ⟹   ENSP00000400356
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1013,116,268 - 13,123,198 (+)Ensembl
Ensembl Acc Id: ENST00000430081   ⟹   ENSP00000414747
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1013,100,173 - 13,116,327 (+)Ensembl
Ensembl Acc Id: ENST00000469025
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1013,131,319 - 13,136,918 (+)Ensembl
Ensembl Acc Id: ENST00000482140   ⟹   ENSP00000484961
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1013,100,163 - 13,118,980 (+)Ensembl
Ensembl Acc Id: ENST00000486862   ⟹   ENSP00000481473
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1013,112,487 - 13,116,540 (+)Ensembl
Ensembl Acc Id: ENST00000487935
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1013,100,159 - 13,109,662 (+)Ensembl
RefSeq Acc Id: NM_001008211   ⟹   NP_001008212
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381013,100,082 - 13,138,276 (+)NCBI
GRCh371013,141,425 - 13,180,291 (+)NCBI
Build 361013,182,088 - 13,220,282 (+)NCBI Archive
HuRef1013,055,075 - 13,092,916 (+)ENTREZGENE
CHM1_11013,142,092 - 13,180,464 (+)NCBI
T2T-CHM13v2.01013,114,413 - 13,152,897 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001008212   ⟹   NP_001008213
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381013,100,163 - 13,138,308 (+)NCBI
GRCh371013,141,425 - 13,180,291 (+)NCBI
Build 361013,182,088 - 13,220,282 (+)NCBI Archive
HuRef1013,055,075 - 13,092,916 (+)ENTREZGENE
CHM1_11013,142,092 - 13,180,464 (+)NCBI
T2T-CHM13v2.01013,114,494 - 13,152,929 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001008213   ⟹   NP_001008214
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381013,100,082 - 13,138,276 (+)NCBI
GRCh371013,141,425 - 13,180,291 (+)NCBI
Build 361013,182,088 - 13,220,282 (+)NCBI Archive
HuRef1013,055,075 - 13,092,916 (+)ENTREZGENE
CHM1_11013,142,092 - 13,180,464 (+)NCBI
T2T-CHM13v2.01013,114,413 - 13,152,897 (+)NCBI
Sequence:
RefSeq Acc Id: NM_021980   ⟹   NP_068815
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381013,100,082 - 13,138,276 (+)NCBI
GRCh371013,141,425 - 13,180,291 (+)NCBI
Build 361013,182,088 - 13,220,282 (+)NCBI Archive
HuRef1013,055,075 - 13,092,916 (+)ENTREZGENE
CHM1_11013,142,092 - 13,180,464 (+)NCBI
T2T-CHM13v2.01013,114,413 - 13,152,897 (+)NCBI
Sequence:
1 to 30 of 38 rows
Protein RefSeqs NP_001008212 (Get FASTA)   NCBI Sequence Viewer  
  NP_001008213 (Get FASTA)   NCBI Sequence Viewer  
  NP_001008214 (Get FASTA)   NCBI Sequence Viewer  
  NP_068815 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAC16046 (Get FASTA)   NCBI Sequence Viewer  
  AAC16047 (Get FASTA)   NCBI Sequence Viewer  
  AAC26850 (Get FASTA)   NCBI Sequence Viewer  
  AAH13876 (Get FASTA)   NCBI Sequence Viewer  
  AAH32762 (Get FASTA)   NCBI Sequence Viewer  
  AAL76327 (Get FASTA)   NCBI Sequence Viewer  
  AAL76328 (Get FASTA)   NCBI Sequence Viewer  
  AAL76329 (Get FASTA)   NCBI Sequence Viewer  
  ALQ33960 (Get FASTA)   NCBI Sequence Viewer  
  ALQ33961 (Get FASTA)   NCBI Sequence Viewer  
  ALQ33962 (Get FASTA)   NCBI Sequence Viewer  
  BAG51512 (Get FASTA)   NCBI Sequence Viewer  
  BAG64696 (Get FASTA)   NCBI Sequence Viewer  
  BAH14542 (Get FASTA)   NCBI Sequence Viewer  
  EAW86301 (Get FASTA)   NCBI Sequence Viewer  
  EAW86302 (Get FASTA)   NCBI Sequence Viewer  
  EAW86303 (Get FASTA)   NCBI Sequence Viewer  
  EAW86304 (Get FASTA)   NCBI Sequence Viewer  
  EAW86305 (Get FASTA)   NCBI Sequence Viewer  
  EAW86306 (Get FASTA)   NCBI Sequence Viewer  
  EAW86307 (Get FASTA)   NCBI Sequence Viewer  
  EAW86308 (Get FASTA)   NCBI Sequence Viewer  
  EAW86309 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000263036.3
  ENSP00000368021
  ENSP00000368021.3
1 to 30 of 38 rows
1 to 5 of 14 rows
1 to 5 of 14 rows
RefSeq Acc Id: NP_001008212   ⟸   NM_001008211
- UniProtKB: Q9UEV4 (UniProtKB/Swiss-Prot),   Q9UET9 (UniProtKB/Swiss-Prot),   Q8N562 (UniProtKB/Swiss-Prot),   Q7LDL9 (UniProtKB/Swiss-Prot),   Q5T675 (UniProtKB/Swiss-Prot),   Q5T674 (UniProtKB/Swiss-Prot),   Q5T673 (UniProtKB/Swiss-Prot),   Q5T672 (UniProtKB/Swiss-Prot),   D3DRS8 (UniProtKB/Swiss-Prot),   D3DRS4 (UniProtKB/Swiss-Prot),   B3KP00 (UniProtKB/Swiss-Prot),   Q9Y218 (UniProtKB/Swiss-Prot),   Q96CV9 (UniProtKB/Swiss-Prot),   A0A0S2Z500 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001008214   ⟸   NM_001008213
- UniProtKB: Q9UEV4 (UniProtKB/Swiss-Prot),   Q9UET9 (UniProtKB/Swiss-Prot),   Q8N562 (UniProtKB/Swiss-Prot),   Q7LDL9 (UniProtKB/Swiss-Prot),   Q5T675 (UniProtKB/Swiss-Prot),   Q5T674 (UniProtKB/Swiss-Prot),   Q5T673 (UniProtKB/Swiss-Prot),   Q5T672 (UniProtKB/Swiss-Prot),   D3DRS8 (UniProtKB/Swiss-Prot),   D3DRS4 (UniProtKB/Swiss-Prot),   B3KP00 (UniProtKB/Swiss-Prot),   Q9Y218 (UniProtKB/Swiss-Prot),   Q96CV9 (UniProtKB/Swiss-Prot),   A0A0S2Z500 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001008213   ⟸   NM_001008212
- UniProtKB: Q9UEV4 (UniProtKB/Swiss-Prot),   Q9UET9 (UniProtKB/Swiss-Prot),   Q8N562 (UniProtKB/Swiss-Prot),   Q7LDL9 (UniProtKB/Swiss-Prot),   Q5T675 (UniProtKB/Swiss-Prot),   Q5T674 (UniProtKB/Swiss-Prot),   Q5T673 (UniProtKB/Swiss-Prot),   Q5T672 (UniProtKB/Swiss-Prot),   D3DRS8 (UniProtKB/Swiss-Prot),   D3DRS4 (UniProtKB/Swiss-Prot),   B3KP00 (UniProtKB/Swiss-Prot),   Q9Y218 (UniProtKB/Swiss-Prot),   Q96CV9 (UniProtKB/Swiss-Prot),   A0A0S2Z500 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_068815   ⟸   NM_021980
- UniProtKB: Q9UEV4 (UniProtKB/Swiss-Prot),   Q9UET9 (UniProtKB/Swiss-Prot),   Q8N562 (UniProtKB/Swiss-Prot),   Q7LDL9 (UniProtKB/Swiss-Prot),   Q5T675 (UniProtKB/Swiss-Prot),   Q5T674 (UniProtKB/Swiss-Prot),   Q5T673 (UniProtKB/Swiss-Prot),   Q5T672 (UniProtKB/Swiss-Prot),   D3DRS8 (UniProtKB/Swiss-Prot),   D3DRS4 (UniProtKB/Swiss-Prot),   B3KP00 (UniProtKB/Swiss-Prot),   Q9Y218 (UniProtKB/Swiss-Prot),   Q96CV9 (UniProtKB/Swiss-Prot),   A0A0S2Z500 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000400356   ⟸   ENST00000424614
CCHC NOA-type   NF-kappa-B essential modulator NEMO N-terminal

Name Modeler Protein Id AA Range Protein Structure
AF-Q96CV9-F1-model_v2 AlphaFold Q96CV9 1-577 view protein structure

RGD ID:7217007
Promoter ID:EPDNEW_H14247
Type:initiation region
Name:OPTN_1
Description:optineurin
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381013,100,163 - 13,100,223EPDNEW
RGD ID:6787951
Promoter ID:HG_KWN:8616
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   K562,   Lymphoblastoid
Transcripts:ENST00000263036,   ENST00000378764,   NM_001008213,   OTTHUMT00000046831,   OTTHUMT00000046834,   OTTHUMT00000046836,   OTTHUMT00000046837,   OTTHUMT00000046839,   OTTHUMT00000046840,   UC001ILY.1,   UC001ILZ.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361013,181,841 - 13,182,341 (+)MPROMDB
RGD ID:6787948
Promoter ID:HG_KWN:8620
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:OTTHUMT00000046830
Position:
Human AssemblyChrPosition (strand)Source
Build 361013,198,276 - 13,198,776 (+)MPROMDB


1 to 40 of 63 rows
Database
Acc Id
Source(s)
COSMIC OPTN COSMIC
Ensembl Genes ENSG00000123240 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000263036.9 UniProtKB/Swiss-Prot
  ENST00000378747 ENTREZGENE
  ENST00000378747.8 UniProtKB/Swiss-Prot
  ENST00000378748 ENTREZGENE
  ENST00000378748.7 UniProtKB/Swiss-Prot
  ENST00000378752 ENTREZGENE
  ENST00000378752.7 UniProtKB/Swiss-Prot
  ENST00000378757 ENTREZGENE
  ENST00000378757.6 UniProtKB/Swiss-Prot
  ENST00000378764.6 UniProtKB/Swiss-Prot
Gene3D-CATH L1 transposable element, trimerization domain UniProtKB/Swiss-Prot
  Nemo cc2-lz domain - 1d5 darpin complex UniProtKB/Swiss-Prot
GTEx ENSG00000123240 GTEx
HGNC ID HGNC:17142 ENTREZGENE
Human Proteome Map OPTN Human Proteome Map
InterPro CC2-LZ_dom UniProtKB/Swiss-Prot
  NEMO_N UniProtKB/Swiss-Prot
  NEMO_ZF UniProtKB/Swiss-Prot
  Optineurin/NFkB_EssMod UniProtKB/Swiss-Prot
KEGG Report hsa:10133 UniProtKB/Swiss-Prot
NCBI Gene 10133 ENTREZGENE
OMIM 602432 OMIM
PANTHER NF-KAPPA-B ESSENTIAL MODULATOR UniProtKB/Swiss-Prot
  PTHR31553:SF2 UniProtKB/Swiss-Prot
Pfam CC2-LZ UniProtKB/Swiss-Prot
  NEMO UniProtKB/Swiss-Prot
  zf_C2H2_10 UniProtKB/Swiss-Prot
PharmGKB PA31948 PharmGKB
PROSITE ZF_CCHC_NOA UniProtKB/Swiss-Prot
UniProt A0A087WY28_HUMAN UniProtKB/TrEMBL
  A0A087X2G2_HUMAN UniProtKB/TrEMBL
  A0A0S2Z500 ENTREZGENE, UniProtKB/TrEMBL
  A0A0S2Z5I6_HUMAN UniProtKB/TrEMBL
  B3KP00 ENTREZGENE
  D3DRS4 ENTREZGENE
  D3DRS8 ENTREZGENE
  H7C1H4_HUMAN UniProtKB/TrEMBL
  OPTN_HUMAN UniProtKB/Swiss-Prot
1 to 40 of 63 rows