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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

OCLN Gene

protein-coding   GIFtS: 56
GCID: GC05P068788

occludin
 Explore 28 diseases affiliated with
OCLN via
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Biological research products
for OCLN    

Aliases
for OCLN gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Occludin1
BLCPMG2 5
Tight Junction Protein Occludin2

External Ids:    HGNC: 81041   Entrez Gene: 1005066582   Ensembl: ENSG000001978227   OMIM: 6028765   UniProtKB: Q166253   

Export aliases for OCLN gene to outside databases

Previous GC identifers: GC05P068940 GC05P070353 GC05P068803 GC05P068823 GC05P065744


Summaries
for OCLN gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
Entrez Gene summary for OCLN:
This gene encodes an integral membrane protein that is required for cytokine-induced regulation of the tight junction
paracellular permeability barrier. Mutations in this gene are thought to be a cause of band-like calcification with
simplified gyration and polymicrogyria (BLC-PMG), an autosomal recessive neurologic disorder that is also known as
pseudo-TORCH syndrome. Alternative splicing results in multiple transcript variants. A related pseudogene is present
1.5 Mb downstream on the q arm of chromosome 5. (provided by RefSeq, Apr 2011)

UniProtKB/Swiss-Prot: OCLN_HUMAN, Q16625
Function: May play a role in the formation and regulation of the tight junction (TJ) paracellular permeability barrier.
It is able to induce adhesion when expressed in cells lacking tight junctions

Gene Wiki entry for OCLN (Occludin)


Genomic Views
for OCLN gene

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000005.9  NC_018916.1  NT_006713.15  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the OCLN gene promoter:
         GR   Sox5   GR-beta   AP-2gamma   C/EBPalpha   c-Myb   GR-alpha   AP-2alpha   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): OCLN promoter sequence
   Search SABiosciences Chromatin IP Primers for OCLN

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat OCLN


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 5q13.1   Ensembl cytogenetic band:  5q13.2   HGNC cytogenetic band: 5q13.1

OCLN Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
OCLN gene location

GeneLoc information about chromosome 5         GeneLoc Exon Structure

GeneLoc location for GC05P068788:  view genomic region     (about GC identifiers)

Start:
 68,788,119 bp from pter      End:
 68,853,931 bp from pter
Size:
 65,813 bases      Orientation:
 plus strand

Proteins
for OCLN gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
UniProtKB/Swiss-Prot: OCLN_HUMAN, Q16625 (See protein sequence)
Recommended Name: Occludin  
Size: 522 amino acids; 59144 Da
Subunit: Interacts with TJP1/ZO1 and with VAPA
Subcellular location: Membrane; Multi-pass membrane protein. Cell junction, tight junction
3 PDB 3D structures from and Proteopedia for OCLN:
1WPA (3D)        1XAW (3D)        3G7C (3D)    
Secondary accessions: B5BU70 D2DU64 D2DU65 D2IGC0 D2IGC1 E2CYV9 Q5U1V4 Q8N6K1
Alternative splicing: 7 isoforms:  Q16625-1   Q16625-2   Q16625-3   Q16625-4   Q16625-5   Q16625-6   Q16625-7   

Explore the universe of human proteins at neXtProt for OCLN: NX_Q16625

Post-translational modifications:

  • Dephosphorylated by PTPRJ. The tyrosine phosphorylation on Tyr-398 and Tyr-402 reduces its ability to interact with
    • TJP1. Phosphorylation at Ser-490 also attenuates the interaction with TJP11
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q16625

    • OCLN Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins (3 alternative transcripts): 
    NP_001192183.1  NP_001192184.1  NP_002529.1  

    ENSEMBL proteins: 
     ENSP00000347379   ENSP00000379719   ENSP00000370143   ENSP00000445940   ENSP00000440000  
    Reactome Protein details: Q16625
    Human Recombinant Protein Products: 
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    OriGene Purified Protein: OCLN
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    Novus Biologicals OCLN Proteins
    Novus Biologicals OCLN Lysates
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn Proteins for OCLN

    Gene Ontology (GO): 5/9 cellular component terms (GO ID links to tree view) (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005625soluble fraction ----
    GO:0005829cytosol ----
    GO:0005886plasma membrane TAS--
    GO:0005911cell-cell junction IDA19332538
    GO:0005923tight junction IDA--


    OCLN for ontologies           About GeneDecksing



    OCLN Antibody Products: 
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    ThermoFisher Antibodies for OCLN

    Assay Products for OCLN: 
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    Uscn ELISAs and CLIAs for OCLN

    Protein Domains /
    Families
    for OCLN gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    OCLN for domains           About GeneDecksing

    4 InterPro domains/families:
     IPR021128 MARVEL-like_dom
     IPR008253 Marvel
     IPR002958 Occludin
     IPR010844 Occludin_RNApol2_elong_fac_ELL

    Graphical View of Domain Structure for InterPro Entry Q16625

    ProtoNet protein and cluster: Q16625

    3 Blocks protein families:
    IPB002958 Occludin signature
    IPB008253 Marvel
    IPB010844 Occludin and RNA polymerase II elongation factor ELL


    UniProtKB/Swiss-Prot: OCLN_HUMAN, Q16625
    Domain: The C-terminal is cytoplasmic and is important for interaction with ZO-1. Sufficient for the tight junction
    localization. Involved in the regulation of the permeability barrier function of the tight junction (By similarity).
    The first extracellular loop participates in an adhesive interaction
    Similarity: Belongs to the ELL/occludin family
    Similarity: Contains 1 MARVEL domain


    Function
    for OCLN gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         UniProtKB/Swiss-Prot: OCLN_HUMAN, Q16625
    Function: May play a role in the formation and regulation of the tight junction (TJ) paracellular permeability barrier.
    It is able to induce adhesion when expressed in cells lacking tight junctions

         Genatlas biochemistry entry for OCLN:
    occludin,60kDa,integral membrane at tight junctions of epithelial cells,highly expressed in
    testis,kidney,liver,lung,brain,involved in the barrier and fence function of TJ,accessory protein in TJ strands
    formation

    miRNA
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    8/59 QIAGEN miScript miRNA Assays for microRNAs that regulate OCLN (see all 59):
    hsa-miR-124* hsa-miR-21* hsa-miR-607 hsa-miR-429 hsa-miR-500a hsa-miR-371-5p hsa-miR-570 hsa-miR-548l
    SwitchGear 3'UTR luciferase reporter plasmid: OCLN 3' UTR sequence
    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for OCLN (see all 7)
    OriGene shRNA RFP: OCLN
    OriGene siRNA: OCLN
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat OCLN

    Gene Editing
    Products:    		DNA2.0 Custom Protein Engineering Service for OCLN

    Clone
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    In Situ Assay
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    Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005198structural molecule activity IEA--
    GO:0005515protein binding IPI19332538
    GO:0008119thiopurine S-methyltransferase activity ----
    GO:0008757S-adenosylmethionine-dependent methyltransferase activity ----


    OCLN for ontologies           About GeneDecksing


    Animal Models:
         Mouse knock-out Oclntm2Sts for OCLN
         11 MGI mutant phenotypes (inferred from 4 alleles) (MGI details for Ocln):
     behavior/neurological  digestive/alimentary  endocrine/exocrine gland  growth/size  homeostasis/metabolism 
     immune system  limbs/digits/tail  muscle  nervous system  reproductive system 
     skeleton 

    OCLN for phenotypes           About GeneDecksing


    Pathways & Interactions
    for OCLN gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways - 5/16 super-pathways (see all 16) About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Apoptotic cleavage of cellular proteins
    		Apoptotic cleavage of cellular proteins1.00
    		Apoptotic execution phase0.73
    2Pathogenic Escherichia coli infection
    		Pathogenic Escherichia coli infection1.00
    		Pathogenic Escherichia coli infection0.98
    3Sertoli-Sertoli Cell Junction Dynamics
    		Sertoli-Sertoli Cell Junction Dynamics1.00
    		Epithelial Tight Junctions0.36
    4Cytoskeletal Signaling
    		Cytoskeletal Signaling1.00
    5Adhesion
    		Adhesion1.00

    Pathway sources
    See GeneCards unified pathways
    Show all pathways

    3 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for OCLN
        Sertoli-Sertoli Cell Junction Dynamics
    Epithelial Tight Junctions
    Transendothelial Migration of Leukocytes

    2 Cell Signaling Technology (CST) Pathways for OCLN
        Cytoskeletal Signaling
    Adhesion

    3 GeneGo (Thomson Reuters) Pathways for OCLN
        Cell adhesion Endothelial cell contacts by junctional mechanisms
    Cell adhesion Tight junctions
    Cell adhesion Gap junctions

    2 BioSystems Pathways for OCLN 
        Pathogenic Escherichia coli infection
    TGF-beta receptor signaling

    4        Reactome Pathways for OCLN
        Apoptotic cleavage of cell adhesion proteins
    Apoptotic execution phase
    Apoptotic cleavage of cellular proteins
    Apoptosis


    5         Kegg Pathways  (Kegg details for OCLN):
        Cell adhesion molecules (CAMs)
    Tight junction
    Leukocyte transendothelial migration
    Pathogenic Escherichia coli infection
    Hepatitis C


    OCLN for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for OCLN

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/52 Interacting proteins for OCLN (Q166252, 3 ENSP000003473794) via UniProtKB, MINT, STRING, and/or I2D (see all 52)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CSNK1EP496742, 3, ENSP000003529294MINT-1892115 MINT-1892205 MINT-1892281 MINT-1892254 MINT-1892301 MINT-1892321 I2D: score=2 STRING: ENSP00000352929
    SNW1Q135732, 3, ENSP000002615314MINT-1892144 I2D: score=1 STRING: ENSP00000261531
    ULK1O753852, 3, ENSP000003245604MINT-1892167 I2D: score=1 STRING: ENSP00000324560
    PLSCR1O151622, 3, ENSP000003454944MINT-8198599 MINT-8198615 I2D: score=1 STRING: ENSP00000345494
    CSNK1A1P487292, 3, ENSP000002617984MINT-1892232 I2D: score=2 STRING: ENSP00000261798
    About this table

    Gene Ontology (GO): 5/8 biological process terms (GO ID links to tree view) (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006461protein complex assembly TAS10749869
    GO:0006915apoptotic process TAS--
    GO:0006921cellular component disassembly involved in execution phase of apoptosis TAS--
    GO:0014070response to organic cyclic compound ----
    GO:0033574response to testosterone stimulus ----


    OCLN for ontologies           About GeneDecksing



    Drugs & Compounds
    for OCLN gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for OCLN
    Search CenterWatch for drugs/clinical trials and news about OCLN 

    Transcripts
    for OCLN gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    REFSEQ mRNAs for OCLN gene (3 alternative transcripts): 
    NM_001205254.1  NM_001205255.1  NM_002538.3  

    Unigene Cluster for OCLN:

    Occludin
    Hs.592605  [show with all ESTs]
    Unigene Representative Sequence: NM_002538
    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000355237(uc003jwu.3 uc003jwv.4 uc021xzq.1 uc021xzr.1 uc021xzs.1 uc021xzt.1)
    ENST00000396442 ENST00000514370 ENST00000510666 ENST00000380766 ENST00000538151
    ENST00000542132

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat OCLN
    8/59 QIAGEN miScript miRNA Assays for microRNAs that regulate OCLN (see all 59):
    hsa-miR-124* hsa-miR-21* hsa-miR-607 hsa-miR-429 hsa-miR-500a hsa-miR-371-5p hsa-miR-570 hsa-miR-548l
    SwitchGear 3'UTR luciferase reporter plasmid: OCLN 3' UTR sequence
    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for OCLN (see all 7)
    OriGene shRNA RFP: OCLN
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    Clone
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    Additional cDNA sequence: 

    AB451306.1 AB451437.1 AK290697.1 AK311037.1 AK313501.1 BC029886.1 DQ786238.1 FJ786083.1 
    FJ786084.1 GQ225096.1 GQ225097.1 GQ225098.1 U49184.1 U53823.1 Z70716.1 

    12 DOTS entries:

    DT.456071  DT.100741549  DT.453238  DT.120845321  DT.438797  DT.100749715  DT.40118471  DT.120845253 
    DT.120845091  DT.120845165  DT.120845331  DT.100018590 

    GeneLoc Exon Structure

    5 Alternative Splicing Database (ASD) splice patterns (SP) for OCLN    About this scheme

    ExUns: 1 ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6a · 6b · 6c ^ 7 ^ 8 ^ 9 ^ 10
    SP1:                                                                              
    SP2:                          -                                                   
    SP3:                                                                              
    SP4:        -     -     -     -                                                   
    SP5:                    -     -                                                   


    ECgene alternative splicing isoforms for OCLN

    Expression
    for OCLN gene

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    OCLN expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: --

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    OCLN expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    4 LifeMap In Vivo Development Anatomical Compartments/Cells 
    Tissue Anatomical Compartment CellCategory (developmental path)
    BrainChoroid PlexusMature Choroid Plexus CellsChoroid Plexus
    KidneyUreteric BudUreteric Bud CellsKidney
    KidneyUreteric BudUreteric Bud Tip CellsKidney
    KidneyRenal Collecting Duct SystemKidney
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization
    Stem Cell Differentiation: 5 LifeMap Cells 
    NameCategory
    Line H7 (WA07) (Embryonic Stem Cell)Early Embryo, Inner Cell Mass
    Brain microvascular endothelial cells (Derivation of blood-...)
    Endothelial cells (Derivation of blood-...)
    Endothelial cells and neural cells (Derivation of blood-...)
    Posterior foregut-like cells (A scalable, suspensi...)

    See OCLN Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for OCLN

    SOURCE GeneReport for Unigene cluster: Hs.592605

    UniProtKB/Swiss-Prot: OCLN_HUMAN, Q16625
    Tissue specificity: Localized at tight junctions of both epithelial and endothelial cells. Highly expressed in kidney.
    Not detected in testis

        SABiosciences Expression via Pathway-Focused PCR Arrays including OCLN: 
              Endothelial Cell Biology in human mouse rat
              Tight Junctions in human mouse rat
              Cancer PathwayFinder in human mouse rat
              Cell Junction PathwayFinder in human mouse rat
              Epithelial to Mesenchymal Transition (EMT) in human mouse rat

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    In Situ
    Assay Products:     
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    Orthologs
    for OCLN gene

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section
    This gene was present in the common ancestor of animals.

    Orthologs for OCLN gene from 4/18 species (see all 18)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    chicken
    (Gallus gallus)    		 Aves OCLN1 occludin 52.9(n)
    48.82(a)    		   396026  NM_205128.1  NP_990459.1 
    lizard
    (Anolis carolinensis)    		 Reptilia OCEL16
    OCLN6
    		 --
    		 68(a)
    56(a)
    		 1 ↔ many
    1 ↔ many
    		 2(16976362-16980696)
    2(16954420-16965240)
    zebrafish
    (Danio rerio)    		 Actinopterygii LOC1000011361 occludin-like 50.79(n)
    43.7(a)    		   100001136  XM_001341168.3  XP_001341204.3 
    fruit fly
    (Drosophila melanogaster)    		 Insecta Su(Tpl)6
    		 Su(Tpl)
    		 5(a)
    		 1 → many
    		 3L(19882220-19902510)


    ENSEMBL Gene Tree for OCLN (if available)
    TreeFam Gene Tree for OCLN (if available) 

    Paralogs
    for OCLN gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for OCLN gene
    MARVELD22  ELL32  OCEL12  ELL22  ELL2  

    OCLN for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for OCLN
    PGOHUM00000260005


    Genomic Variants
    for OCLN gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/594 NCBI SNPs in OCLN are shown (see all 594)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 5 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs749724481,2
    		F,--68786200(+) CACTCG/ATGTGT 1 -- us2k11Minor allele frequency- A:0.02EA 120
    rs789176961,2
    		C--68786213(+) ACAGAG/TTAGGC 2 -- us2k10--------
    rs774600481,2
    		C--68786214(+) CAGATA/TAGGCA 2 -- us2k10--------
    rs731168921,2
    		C,--68786288(+) CACAAC/TATGTC 1 -- us2k12Minor allele frequency- T:0.40WA 120
    rs1411982631,2
    		--68786406(+) AAAACA/GTATGT 1 -- us2k10--------
    rs1871604791,2
    		--68786439(+) ATGTTC/GATAGT 1 -- us2k10--------
    rs1912034471,2
    		--68786511(+) TTAAAC/TGAAAT 1 -- us2k10--------
    rs1151908101,2
    		C,--68786512(+) TAAACA/GAAATG 1 -- us2k10--------
    rs1144710201,2
    		C,--68786734(+) GGAGAA/GGGGAA 2 -- us2k10--------
    rs286660361,2
    		C,F,H,--68786780(+) TTGGGG/TGCGAT 4 -- us2k1 tfbs313Minor allele frequency- T:0.19EA NS WA 1816

    HapMap Linkage Disequilibrium report for OCLN (68788119 - 68853931 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 9 variations for OCLN
         9 CNVs: 80945 93086 69118 69111 7500 0283 31238 80944 69143
    Human Gene Mutation Database (HGMD): OCLN

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    DNA2.0 Custom Variant and Variant Library Synthesis for OCLN

    Disorders / Diseases
    for OCLN gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OCLN for disorders           About GeneDecksing

    OMIM gene information: 602876   
    OMIM disorders: 251290  
    UniProtKB/Swiss-Prot: OCLN_HUMAN, Q16625
  • Defects in OCLN are the cause of band-like calcification with simplified gyration and polymicrogyria (BLCPMG)
    • [MIM:251290]; also known as pseudo-TORCH syndrome. BLCPMG is a neurologic disorder with characteristic clinical and
    neuroradiologic features that mimic intrauterine TORCH infection in the absence of evidence of infection. Affected
    individuals have congenital microcephaly, intracranial calcifications, and severe developmental delay

    20/28 diseases for OCLN (see all 28):    About MalaCards
    torch syndrome    polymicrogyria    cerebral artery occlusion    arteriovenous malformation
    biliary tract cancer    cerebrovascular accident    goldenhar syndrome    brain edema
    vascular dementia    diabetic retinopathy    cholecystitis    hepatitis c
    dementia    microcephaly    endometrial carcinoma    diarrhea
    vaginitis    colon carcinoma    alzheimer's disease    gastric cancer

    6 diseases from the University of Copenhagen DISEASES database for OCLN:
    Brain edema     Diabetic retinopathy     pseudo-TORCH syndrome     Inflammatory bowel disease
    Cerebrovascular accident     Brain glioma

    Export disorders for OCLN gene to outside databases

    Publications
    for OCLN gene

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for OCLN gene, integrated from 9 sources (see all 130):
    (articles sorted by number of sources associating them with OCLN)    		    Utopia: connect your pdf to the dynamic
    world of online information

    1. Interspecies diversity of the occludin sequence: cDNA cloning of human, mouse, dog, and rat-kangaroo homologues. (PubMed id 8601611)1, 2, 3 Ando-Akatsuka Y.... Tsukita S. (1996)
    2. Recessive mutations in the gene encoding the tight ju nction protein occludin cause band-like calcification with simplified gyration and polymicrogyria. (PubMed id 20727516)1, 2 O'Driscoll M.C....Crow Y.J. (2010)
    3. Splicing diversity of the human OCLN gene and its bio logical significance for hepatitis C virus entry. (PubMed id 20463075)1, 2 Kohaar I....Prokunina-Olsson L. (2010)
    4. PKC eta regulates occludin phosphorylation and epithelial tight junction integrity. (PubMed id 19114660)1, 2 Suzuki T....Rao R. (2009)
    5. Density-enhanced Phosphatase 1 Regulates Phosphorylation of Tight Junction Proteins and Enhances Barrier Function of Epithelial Cells. (PubMed id 19332538)1, 2 Sallee J.L. and Burridge K. (2009)
    6. Phosphorylation of Tyr-398 and Tyr-402 in occludin prevents its interaction with ZO-1 and destabilizes its assembly at the tight junctions. (PubMed id 19017651)1, 2 Elias B.C....Rao R. (2009)
    7. Identification and analysis of occludin phosphosites: a combined mass spectrometry and bioinformatics approach. (PubMed id 19125584)1, 2 Sundstrom J.M....Antonetti D.A. (2009)
    8. Human protein factory for converting the transcriptome into an in vitro-expressed proteome. (PubMed id 19054851)1, 2 Goshima N.... Nomura N. (2008)
    9. The DNA sequence and comparative analysis of human chromosome 5. (PubMed id 15372022)1, 2 Schmutz J.... Rubin E.M. (2004)
    10. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)

    External Searches for OCLN gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Free Text  
      Query String
    		PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    Genome Databases showing OCLN gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 100506658 HGNC: 8104 Ensembl:ENSG00000197822 euGenes: HUgn100506658 ECgene: OCLN Kegg: 100506658
    H-InvDB: OCLN

    Other Databases showing OCLN gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing OCLN gene

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for OCLN Pharmacogenomics, SNPs, Pathways
    Wikipedia http://en.wikipedia.org/wiki/Occludin

    Intellectual Property
    for OCLN gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		Patent Information for OCLN gene:
    Search GeneIP for patents involving OCLN

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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    About This Section

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