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OPTN (optineurin)

Identity

Other namesALS12
FIP2
GLC1E
HIP7
HYPL
NRP
TFIIIA-INTP
HGNC (Hugo) OPTN
LocusID (NCBI) 10133
Atlas_Id 41609
Location 10p13  [Link to chromosome band 10p13]
Location_base_pair Starts at 13142082 and ends at 13180276 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)		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]  chr10:13142082-13180276 [Contig_View]  OPTN [Vega]
Ensembl hg38 (Hinxton)ENSG00000123240 [Gene_View]  chr10:13142082-13180276 [Contig_View]  OPTN [Vega]
ICGC DataPortalENSG00000123240
TCGA cBioPortalOPTN
AceView (NCBI)OPTN
Genatlas (Paris)OPTN
WikiGenes10133
SOURCE (Princeton)OPTN
Genomic and cartography
GoldenPath hg19 (UCSC)OPTN  -     chr10:13142082-13180276 +  10p13   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)OPTN  -     10p13   [Description]    (hg38-Dec_2013)
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)NC_000010 NC_018921 NG_012876 NT_008705 NW_004929370
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]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)10133
GTEX Portal (Tissue expression)OPTN
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ96CV9 (Uniprot)
NextProtQ96CV9  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ96CV9
Splice isoforms : SwissVarQ96CV9 (Swissvar)
PhosPhoSitePlusQ96CV9
Domains : Interpro (EBI)CC2-LZ_dom    NEMO_N    Optineurin   
Domain families : Pfam (Sanger)CC2-LZ (PF16516)    NEMO (PF11577)   
Domain families : Pfam (NCBI)pfam16516    pfam11577   
DMDM Disease mutations10133
Blocks (Seattle)OPTN
PDB (SRS)2LO4    2LUE    3VTV    3VTW   
PDB (PDBSum)2LO4    2LUE    3VTV    3VTW   
PDB (IMB)2LO4    2LUE    3VTV    3VTW   
PDB (RSDB)2LO4    2LUE    3VTV    3VTW   
Structural Biology KnowledgeBase2LO4    2LUE    3VTV    3VTW   
SCOP (Structural Classification of Proteins)2LO4    2LUE    3VTV    3VTW   
CATH (Classification of proteins structures)2LO4    2LUE    3VTV    3VTW   
SuperfamilyQ96CV9
Human Protein AtlasENSG00000123240
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  Golgi organization  signal transduction  protein C-terminus binding  cell death  cytoplasmic, membrane-bounded vesicle  macroautophagy  Rab GTPase binding  protein binding, bridging  polyubiquitin binding  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  perinuclear region of cytoplasm  defense response to Gram-negative bacterium  recycling endosome  K63-linked polyubiquitin binding  Golgi ribbon formation  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  Golgi organization  signal transduction  protein C-terminus binding  cell death  cytoplasmic, membrane-bounded vesicle  macroautophagy  Rab GTPase binding  protein binding, bridging  polyubiquitin binding  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  perinuclear region of cytoplasm  defense response to Gram-negative bacterium  recycling endosome  K63-linked polyubiquitin binding  Golgi ribbon formation  xenophagy  
NDEx NetworkOPTN
Atlas of Cancer Signalling NetworkOPTN
Wikipedia pathwaysOPTN
Orthology - Evolution
OrthoDB10133
GeneTree (enSembl)ENSG00000123240
Phylogenetic Trees/Animal Genes : TreeFamOPTN
Homologs : HomoloGeneOPTN
Homology/Alignments : Family Browser (UCSC)OPTN
Gene fusions - Rearrangements
Polymorphisms : SNP, variants
NCBI Variation ViewerOPTN [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)OPTN
dbVarOPTN
ClinVarOPTN
1000_GenomesOPTN 
Exome Variant ServerOPTN
ExAC (Exome Aggregation Consortium)OPTN (select the gene name)
Genetic variants : HAPMAP10133
Genomic Variants (DGV)OPTN [DGVbeta]
Mutations
ICGC Data PortalOPTN 
TCGA Data PortalOPTN 
Broad Tumor PortalOPTN
OASIS PortalOPTN [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICOPTN 
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
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)10:13142082-13180276  ENSG00000123240
CONAN: Copy Number AnalysisOPTN 
Mutations and Diseases : HGMDOPTN
OMIM137760    602432    606657    613435   
MedgenOPTN
Genetic Testing Registry OPTN
NextProtQ96CV9 [Medical]
TSGene10133
GENETestsOPTN
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
PubMed166 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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indexed on : Mon Sep 19 19:05:42 CEST 2016
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