Atlas of Genetics and Cytogenetics in Oncology and Haematology

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OPTN (optineurin)

Identity

Alias_namesGLC1E
glaucoma 1
Alias_symbol (synonym)FIP2
HYPL
FIP-2
TFIIIA-INTP
NRP
HIP7
Other aliasALS12
HGNC (Hugo) OPTN
LocusID (NCBI) 10133
Atlas_Id 41609
Location 10p13  [Link to chromosome band 10p13]
Location_base_pair Starts at 13100082 and ends at 13138276 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)		Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
OPTN (10p13) / GNS (12q14.3)OPTN (10p13) / HMGN5 (Xq21.1)OPTN (10p13) / OPTN (10p13)

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 

External links

Nomenclature
HGNC (Hugo)OPTN   17142
Cards
Entrez_Gene (NCBI)OPTN  10133  optineurin
AliasesALS12; FIP2; GLC1E; HIP7; 
HYPL; NRP; TFIIIA-INTP
GeneCards (Weizmann)OPTN
Ensembl hg19 (Hinxton)ENSG00000123240 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000123240 [Gene_View]  ENSG00000123240 [Sequence]  chr10:13100082-13138276 [Contig_View]  OPTN [Vega]
ICGC DataPortalENSG00000123240
TCGA cBioPortalOPTN
AceView (NCBI)OPTN
Genatlas (Paris)OPTN
WikiGenes10133
SOURCE (Princeton)OPTN
Genetics Home Reference (NIH)OPTN
Genomic and cartography
GoldenPath hg38 (UCSC)OPTN  -     chr10:13100082-13138276 +  10p13   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)OPTN  -     10p13   [Description]    (hg19-Feb_2009)
EnsemblOPTN - 10p13 [CytoView hg19]  OPTN - 10p13 [CytoView hg38]
Mapping of homologs : NCBIOPTN [Mapview hg19]  OPTN [Mapview hg38]
OMIM137760   602432   606657   613435   
Gene and transcription
Genbank (Entrez)AF049614 AF061034 AF061034 AF070533 AF420371
RefSeq transcript (Entrez)NM_001008211 NM_001008212 NM_001008213 NM_021980
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)OPTN
Cluster EST : UnigeneHs.332706 [ NCBI ]
CGAP (NCI)Hs.332706
Alternative Splicing GalleryENSG00000123240
Gene ExpressionOPTN [ NCBI-GEO ]   OPTN [ EBI - ARRAY_EXPRESS ]   OPTN [ SEEK ]   OPTN [ MEM ]
Gene Expression Viewer (FireBrowse)OPTN [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)10133
GTEX Portal (Tissue expression)OPTN
Human Protein AtlasENSG00000123240-OPTN [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ96CV9   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ96CV9  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ96CV9
Splice isoforms : SwissVarQ96CV9
PhosPhoSitePlusQ96CV9
Domaine pattern : Prosite (Expaxy)ZF_CCHC_NOA (PS51801)   
Domains : Interpro (EBI)CC2-LZ_dom    NEMO_N    Optineurin   
Domain families : Pfam (Sanger)CC2-LZ (PF16516)    NEMO (PF11577)   
Domain families : Pfam (NCBI)pfam16516    pfam11577   
Conserved Domain (NCBI)OPTN
DMDM Disease mutations10133
Blocks (Seattle)OPTN
PDB (SRS)2LO4    2LUE    3VTV    3VTW    5AAZ    5B83    5EOA    5EOF   
PDB (PDBSum)2LO4    2LUE    3VTV    3VTW    5AAZ    5B83    5EOA    5EOF   
PDB (IMB)2LO4    2LUE    3VTV    3VTW    5AAZ    5B83    5EOA    5EOF   
PDB (RSDB)2LO4    2LUE    3VTV    3VTW    5AAZ    5B83    5EOA    5EOF   
Structural Biology KnowledgeBase2LO4    2LUE    3VTV    3VTW    5AAZ    5B83    5EOA    5EOF   
SCOP (Structural Classification of Proteins)2LO4    2LUE    3VTV    3VTW    5AAZ    5B83    5EOA    5EOF   
CATH (Classification of proteins structures)2LO4    2LUE    3VTV    3VTW    5AAZ    5B83    5EOA    5EOF   
SuperfamilyQ96CV9
Human Protein Atlas [tissue]ENSG00000123240-OPTN [tissue]
Peptide AtlasQ96CV9
HPRD03891
IPIIPI00304189   IPI00554537   IPI00514792   IPI00645442   
Protein Interaction databases
DIP (DOE-UCLA)Q96CV9
IntAct (EBI)Q96CV9
FunCoupENSG00000123240
BioGRIDOPTN
STRING (EMBL)OPTN
ZODIACOPTN
Ontologies - Pathways
QuickGOQ96CV9
Ontology : AmiGOprotein targeting to Golgi  G2/M transition of mitotic cell cycle  Golgi membrane  negative regulation of receptor recycling  protein binding  nucleus  nucleoplasm  cytoplasm  autophagosome  Golgi apparatus  trans-Golgi network  cytosol  cytosol  autophagy  Golgi organization  signal transduction  protein C-terminus binding  cell death  positive regulation of autophagy  Rab GTPase binding  protein binding, bridging  cytoplasmic vesicle  polyubiquitin modification-dependent protein binding  cellular response to unfolded protein  identical protein binding  Golgi to plasma membrane protein transport  regulation of I-kappaB kinase/NF-kappaB signaling  negative regulation of I-kappaB kinase/NF-kappaB signaling  innate immune response  metal ion binding  perinuclear region of cytoplasm  defense response to Gram-negative bacterium  recycling endosome membrane  parkin-mediated stimulation of mitophagy in response to mitochondrial depolarization  K63-linked polyubiquitin modification-dependent protein binding  Golgi ribbon formation  Golgi ribbon formation  positive regulation of xenophagy  
Ontology : EGO-EBIprotein targeting to Golgi  G2/M transition of mitotic cell cycle  Golgi membrane  negative regulation of receptor recycling  protein binding  nucleus  nucleoplasm  cytoplasm  autophagosome  Golgi apparatus  trans-Golgi network  cytosol  cytosol  autophagy  Golgi organization  signal transduction  protein C-terminus binding  cell death  positive regulation of autophagy  Rab GTPase binding  protein binding, bridging  cytoplasmic vesicle  polyubiquitin modification-dependent protein binding  cellular response to unfolded protein  identical protein binding  Golgi to plasma membrane protein transport  regulation of I-kappaB kinase/NF-kappaB signaling  negative regulation of I-kappaB kinase/NF-kappaB signaling  innate immune response  metal ion binding  perinuclear region of cytoplasm  defense response to Gram-negative bacterium  recycling endosome membrane  parkin-mediated stimulation of mitophagy in response to mitochondrial depolarization  K63-linked polyubiquitin modification-dependent protein binding  Golgi ribbon formation  Golgi ribbon formation  positive regulation of xenophagy  
NDEx NetworkOPTN
Atlas of Cancer Signalling NetworkOPTN
Wikipedia pathwaysOPTN
Orthology - Evolution
OrthoDB10133
GeneTree (enSembl)ENSG00000123240
Phylogenetic Trees/Animal Genes : TreeFamOPTN
HOVERGENQ96CV9
HOGENOMQ96CV9
Homologs : HomoloGeneOPTN
Homology/Alignments : Family Browser (UCSC)OPTN
Gene fusions - Rearrangements
Fusion : QuiverOPTN
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerOPTN [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)OPTN
dbVarOPTN
ClinVarOPTN
1000_GenomesOPTN 
Exome Variant ServerOPTN
ExAC (Exome Aggregation Consortium)ENSG00000123240
GNOMAD BrowserENSG00000123240
Genetic variants : HAPMAP10133
Genomic Variants (DGV)OPTN [DGVbeta]
DECIPHEROPTN [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisOPTN 
Mutations
ICGC Data PortalOPTN 
TCGA Data PortalOPTN 
Broad Tumor PortalOPTN
OASIS PortalOPTN [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICOPTN  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDOPTN
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)Mendelian genes
BioMutasearch OPTN
DgiDB (Drug Gene Interaction Database)OPTN
DoCM (Curated mutations)OPTN (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)OPTN (select a term)
intoGenOPTN
Cancer3DOPTN(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM137760    602432    606657    613435   
Orphanet106   
DisGeNETOPTN
MedgenOPTN
Genetic Testing Registry OPTN
NextProtQ96CV9 [Medical]
TSGene10133
GENETestsOPTN
Target ValidationOPTN
Huge Navigator OPTN [HugePedia]
snp3D : Map Gene to Disease10133
BioCentury BCIQOPTN
ClinGenOPTN
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD10133
Chemical/Pharm GKB GenePA31948
Clinical trialOPTN
Miscellaneous
canSAR (ICR)OPTN (select the gene name)
Probes
Litterature
PubMed197 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineOPTN
EVEXOPTN
GoPubMedOPTN
iHOPOPTN
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Fri Jun 22 16:41:20 CEST 2018
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