Atlas of Genetics and Cytogenetics in Oncology and Haematology


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OPTN (optineurin)

Identity

Other namesALS12
FIP2
GLC1E
HIP7
HYPL
NRP
TFIIIA-INTP
HGNC (Hugo) OPTN
LocusID (NCBI) 10133
Location 10p13
Location_base_pair Starts at 13142082 and ends at 13180276 bp from pter ( according to hg19-Feb_2009)
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
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
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)AC_000142 NC_000010 NC_018921 NG_012876 NT_008705 NW_001837931 NW_004929370
Consensus coding sequences : CCDS (NCBI)OPTN
Cluster EST : UnigeneHs.332706 [ NCBI ]
CGAP (NCI)Hs.332706
Alternative Splicing : Fast-db (Paris)GSHG0003210
Alternative Splicing GalleryENSG00000123240
Gene ExpressionOPTN [ NCBI-GEO ]     OPTN [ SEEK ]   OPTN [ MEM ]
SOURCE (Princeton)Expression in : [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ96CV9 (Uniprot)
NextProtQ96CV9  [Medical]
With graphics : InterProQ96CV9
Splice isoforms : SwissVarQ96CV9 (Swissvar)
Domains : Interpro (EBI)NEMO_N   
Related proteins : CluSTrQ96CV9
Domain families : Pfam (Sanger)NEMO (PF11577)   
Domain families : Pfam (NCBI)pfam11577   
DMDM Disease mutations10133
Blocks (Seattle)Q96CV9
PDB (SRS)2LO4    2LUE    3VTV    3VTW   
PDB (PDBSum)2LO4    2LUE    3VTV    3VTW   
PDB (IMB)2LO4    2LUE    3VTV    3VTW   
PDB (RSDB)2LO4    2LUE    3VTV    3VTW   
Human Protein AtlasENSG00000123240
Peptide AtlasQ96CV9
HPRD03891
IPIIPI00304189   IPI00554537   IPI00514792   IPI00645442   
Protein Interaction databases
DIP (DOE-UCLA)Q96CV9
IntAct (EBI)Q96CV9
FunCoupENSG00000123240
BioGRIDOPTN
IntegromeDBOPTN
STRING (EMBL)OPTN
Ontologies - Pathways
QuickGOQ96CV9
Ontology : AmiGOprotein targeting to Golgi  G2/M transition of mitotic cell cycle  Golgi membrane  mitotic cell cycle  negative regulation of receptor recycling  protein binding  nucleoplasm  cytoplasm  Golgi apparatus  trans-Golgi network  cytosol  Golgi organization  signal transduction  protein C-terminus binding  cell death  macroautophagy  polyubiquitin binding  Golgi to plasma membrane protein transport  perinuclear region of cytoplasm  defense response to Gram-negative bacterium  Golgi ribbon formation  
Ontology : EGO-EBIprotein targeting to Golgi  G2/M transition of mitotic cell cycle  Golgi membrane  mitotic cell cycle  negative regulation of receptor recycling  protein binding  nucleoplasm  cytoplasm  Golgi apparatus  trans-Golgi network  cytosol  Golgi organization  signal transduction  protein C-terminus binding  cell death  macroautophagy  polyubiquitin binding  Golgi to plasma membrane protein transport  perinuclear region of cytoplasm  defense response to Gram-negative bacterium  Golgi ribbon formation  
Protein Interaction DatabaseOPTN
DoCM (Curated mutations)OPTN
Wikipedia pathwaysOPTN
Gene fusion - rearrangements
Polymorphisms : SNP, variants
NCBI Variation ViewerOPTN [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)OPTN
dbVarOPTN
ClinVarOPTN
1000_GenomesOPTN 
Exome Variant ServerOPTN
SNP (GeneSNP Utah)OPTN
SNP : HGBaseOPTN
Genetic variants : HAPMAPOPTN
Genomic VariantsOPTN  OPTN [DGVbeta]
Mutations
ICGC Data PortalENSG00000123240 
Somatic Mutations in Cancer : COSMICOPTN 
CONAN: Copy Number AnalysisOPTN 
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
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)10:13142082-13180276
Mutations and Diseases : HGMDOPTN
OMIM137760    602432    606657    613435   
MedgenOPTN
NextProtQ96CV9 [Medical]
GENETestsOPTN
Disease Genetic AssociationOPTN
Huge Navigator OPTN [HugePedia]  OPTN [HugeCancerGEM]
snp3D : Map Gene to Disease10133
DGIdb (Drug Gene Interaction db)OPTN
General knowledge
Homologs : HomoloGeneOPTN
Homology/Alignments : Family Browser (UCSC)OPTN
Phylogenetic Trees/Animal Genes : TreeFamOPTN
Chemical/Protein Interactions : CTD10133
Chemical/Pharm GKB GenePA31948
Clinical trialOPTN
Cancer Resource (Charite)ENSG00000123240
Other databases
Probes
Litterature
PubMed146 Pubmed reference(s) in Entrez
CoreMineOPTN
GoPubMedOPTN
iHOPOPTN
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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Contributor(s)

Written09-2002Dessen P, Le Minor S
Updated12-2014Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Sun Dec 21 00:35:02 CET 2014

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