Atlas of Genetics and Cytogenetics in Oncology and Haematology


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OCLN (occludin)

Identity

Alias_symbol (synonym)PPP1R115
Other aliasBLCPMG
PTORCH1
HGNC (Hugo) OCLN
LocusID (NCBI) 100506658
Atlas_Id 46084
Location 5q13.2  [Link to chromosome band 5q13]
Location_base_pair Starts at 69492763 and ends at 69558104 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
NAIP (5q13.2) / OCLN (5q13.2)OCLN (5q13.2) / CDK14 (7q21.13)OCLN 5q13.2 / CDK14 7q21.13

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

 


Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 1 ]
  Lung: Translocations in Small Cell Carcinoma


External links

Nomenclature
HGNC (Hugo)OCLN   8104
Cards
Entrez_Gene (NCBI)OCLN  100506658  occludin
AliasesBLCPMG; PPP1R115; PTORCH1
GeneCards (Weizmann)OCLN
Ensembl hg19 (Hinxton)ENSG00000197822 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000197822 [Gene_View]  chr5:69492763-69558104 [Contig_View]  OCLN [Vega]
ICGC DataPortalENSG00000197822
TCGA cBioPortalOCLN
AceView (NCBI)OCLN
Genatlas (Paris)OCLN
WikiGenes100506658
SOURCE (Princeton)OCLN
Genetics Home Reference (NIH)OCLN
Genomic and cartography
GoldenPath hg38 (UCSC)OCLN  -     chr5:69492763-69558104 +  5q13.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)OCLN  -     5q13.2   [Description]    (hg19-Feb_2009)
EnsemblOCLN - 5q13.2 [CytoView hg19]  OCLN - 5q13.2 [CytoView hg38]
Mapping of homologs : NCBIOCLN [Mapview hg19]  OCLN [Mapview hg38]
OMIM251290   602876   
Gene and transcription
Genbank (Entrez)AB451306 AB451437 AI093221 AK290697 AK311037
RefSeq transcript (Entrez)NM_001205254 NM_001205255 NM_002538
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)OCLN
Cluster EST : UnigeneHs.592605 [ NCBI ]
CGAP (NCI)Hs.592605
Alternative Splicing GalleryENSG00000197822
Gene ExpressionOCLN [ NCBI-GEO ]   OCLN [ EBI - ARRAY_EXPRESS ]   OCLN [ SEEK ]   OCLN [ MEM ]
Gene Expression Viewer (FireBrowse)OCLN [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)100506658
GTEX Portal (Tissue expression)OCLN
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ16625   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ16625  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ16625
Splice isoforms : SwissVarQ16625
PhosPhoSitePlusQ16625
Domaine pattern : Prosite (Expaxy)MARVEL (PS51225)   
Domains : Interpro (EBI)ELL/occludin    Marvel    MFS_dom    Occludin    Occludin_ELL   
Domain families : Pfam (Sanger)MARVEL (PF01284)    Occludin_ELL (PF07303)   
Domain families : Pfam (NCBI)pfam01284    pfam07303   
Conserved Domain (NCBI)OCLN
DMDM Disease mutations100506658
Blocks (Seattle)OCLN
PDB (SRS)1WPA    1XAW    3G7C   
PDB (PDBSum)1WPA    1XAW    3G7C   
PDB (IMB)1WPA    1XAW    3G7C   
PDB (RSDB)1WPA    1XAW    3G7C   
Structural Biology KnowledgeBase1WPA    1XAW    3G7C   
SCOP (Structural Classification of Proteins)1WPA    1XAW    3G7C   
CATH (Classification of proteins structures)1WPA    1XAW    3G7C   
SuperfamilyQ16625
Human Protein AtlasENSG00000197822
Peptide AtlasQ16625
IPIIPI00003373   IPI00965141   IPI00479078   IPI00978567   
Protein Interaction databases
DIP (DOE-UCLA)Q16625
IntAct (EBI)Q16625
FunCoupENSG00000197822
BioGRIDOCLN
STRING (EMBL)OCLN
ZODIACOCLN
Ontologies - Pathways
QuickGOQ16625
Ontology : AmiGOprotein binding  plasma membrane  plasma membrane  cell-cell junction  bicellular tight junction  protein complex assembly  integral component of membrane  apical plasma membrane  apicolateral plasma membrane  lateral plasma membrane  protein domain specific binding  cell junction  endocytic vesicle  cytoplasmic vesicle  cell-cell junction organization  response to interleukin-18  bicellular tight junction assembly  cellular response to tumor necrosis factor  
Ontology : EGO-EBIprotein binding  plasma membrane  plasma membrane  cell-cell junction  bicellular tight junction  protein complex assembly  integral component of membrane  apical plasma membrane  apicolateral plasma membrane  lateral plasma membrane  protein domain specific binding  cell junction  endocytic vesicle  cytoplasmic vesicle  cell-cell junction organization  response to interleukin-18  bicellular tight junction assembly  cellular response to tumor necrosis factor  
Pathways : KEGGCell adhesion molecules (CAMs)    Tight junction    Leukocyte transendothelial migration    Pathogenic Escherichia coli infection    Hepatitis C   
NDEx NetworkOCLN
Atlas of Cancer Signalling NetworkOCLN
Wikipedia pathwaysOCLN
Orthology - Evolution
OrthoDB100506658
GeneTree (enSembl)ENSG00000197822
Phylogenetic Trees/Animal Genes : TreeFamOCLN
HOVERGENQ16625
HOGENOMQ16625
Homologs : HomoloGeneOCLN
Homology/Alignments : Family Browser (UCSC)OCLN
Gene fusions - Rearrangements
Fusion : MitelmanNAIP/OCLN [5q13.2/5q13.2]  [t(5;5)(q13;q13)]  
Fusion : MitelmanOCLN/CDK14 [5q13.2/7q21.13]  [t(5;7)(q13;q21)]  
Fusion: TCGAOCLN 5q13.2 CDK14 7q21.13 PRAD
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerOCLN [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)OCLN
dbVarOCLN
ClinVarOCLN
1000_GenomesOCLN 
Exome Variant ServerOCLN
ExAC (Exome Aggregation Consortium)OCLN (select the gene name)
Genetic variants : HAPMAP100506658
Genomic Variants (DGV)OCLN [DGVbeta]
DECIPHEROCLN [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisOCLN 
Mutations
ICGC Data PortalOCLN 
TCGA Data PortalOCLN 
Broad Tumor PortalOCLN
OASIS PortalOCLN [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICOCLN  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDOCLN
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch OCLN
DgiDB (Drug Gene Interaction Database)OCLN
DoCM (Curated mutations)OCLN (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)OCLN (select a term)
intoGenOCLN
Cancer3DOCLN(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM251290    602876   
Orphanet1474   
MedgenOCLN
Genetic Testing Registry OCLN
NextProtQ16625 [Medical]
TSGene100506658
GENETestsOCLN
Target ValidationOCLN
Huge Navigator OCLN [HugePedia]
snp3D : Map Gene to Disease100506658
BioCentury BCIQOCLN
ClinGenOCLN
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD100506658
Chemical/Pharm GKB GenePA31893
Clinical trialOCLN
Miscellaneous
canSAR (ICR)OCLN (select the gene name)
Probes
Litterature
PubMed171 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineOCLN
EVEXOCLN
GoPubMedOCLN
iHOPOCLN
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 25 19:23:04 CEST 2017

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