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OCLN Gene

protein-coding   GIFtS: 60
GCID: GC05P068788

Occludin

  See OCLN-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
occludin1 2
BLCPMG2 5
Tight Junction Protein Occludin TM4 Minus1
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


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for OCLN Gene:
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)

GeneCards Summary for OCLN Gene:
OCLN (occludin) is a protein-coding gene. Diseases associated with OCLN include torch syndrome, and pseudo-torch syndrome. GO annotations related to this gene include structural molecule activity.

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) 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000005.9  NT_034772.7  NC_018916.2  
Regulatory elements:
   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 Chromatin IP Primers for OCLN

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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

1 alternative location:
Chr5+,NW_003315917.2 275,189-341,052     

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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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
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

Explore proteomics data for OCLN at MOPED

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
  • Ubiquitination2 at Lys276, Lys283, Lys299
  • Modification sites at PhosphoSitePlus

  • See OCLN Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    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

    OCLN Human Recombinant Protein Products:

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    Cloud-Clone Corp. Proteins for OCLN

     
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    OCLN Antibody Products:

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    4 InterPro protein domains:
     IPR008253 Marvel
     IPR002958 Occludin
     IPR010844 Occludin_RNApol2_elong_fac_ELL
     IPR016196 MFS_dom_general_subst_transpt

    Graphical View of Domain Structure for InterPro Entry Q16625

    ProtoNet protein and cluster: Q16625

    3 Blocks protein domains:
    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


    Find genes that share domains with OCLN           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: 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

         Gene Ontology (GO): 5 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005198structural molecule activity IEA--
    GO:0005515protein binding IPI16616143
    GO:0008119thiopurine S-methyltransferase activity IEA--
    GO:0008757S-adenosylmethionine-dependent methyltransferase activity ----
    GO:0019904protein domain specific binding IPI--
         
    Find genes that share ontologies with OCLN           About GenesLikeMe


    Phenotypes:
         11 MGI mutant phenotypes (inferred from 4 alleles(MGI details for Ocln):
     behavior/neurological  digestive/alimentary  endocrine/exocrine gland  growth/size/body  homeostasis/metabolism 
     immune system  limbs/digits/tail  muscle  nervous system  reproductive system 
     skeleton 

    Find genes that share phenotypes with OCLN           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Oclntm2Sts for OCLN

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for OCLN
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for OCLN
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for OCLN

    miRNA
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    miRTarBase miRNAs that target OCLN:
    hsa-mir-335-5p (MIRT018585), hsa-let-7b-5p (MIRT052167), hsa-let-7e-5p (MIRT051654)

    Block miRNA regulation of human, mouse, rat OCLN using miScript Target Protectors
    Selected qRT-PCR 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 plasmidOCLN 3' UTR sequence
    Inhib. RNA
    Products:
        
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    Predesigned siRNA for gene silencing in human, mouse, rat OCLN

    Gene Editing
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    Addgene plasmids for OCLN 

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    eBioscience FlowRNA Probe Sets ( VA1-12256) for OCLN 


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    OCLN_HUMAN, Q16625: Membrane; Multi-pass membrane protein. Cell junction, tight junction
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane4
    cytoskeleton3
    extracellular2
    peroxisome2
    endosome1
    nucleus1

    Gene Ontology (GO): Selected cellular component terms (see all 11):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005829cytosol IEA--
    GO:0005886plasma membrane TAS--
    GO:0005911cell-cell junction IDA19332538
    GO:0005923tight junction IDA--
    GO:0016020membrane ----

    Find genes that share ontologies with OCLN           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, 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 Apr 2014 via Entrez Gene).
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    SuperPaths for OCLN About   (see all 8)  
    See pathways by source

    SuperPathContained pathways About
    1Development Slit Robo signaling
    Pathogenic Escherichia coli infection0.43
    Pathogenic Escherichia coli infection0.41
    2Sertoli-Sertoli Cell Junction Dynamics
    Sertoli-Sertoli Cell Junction Dynamics0.38
    Epithelial Tight Junctions0.36
    3Integrin Pathway
    Transendothelial Migration of Leukocytes0.38
    4Tight junction
    Tight junction
    5TGF-beta receptor signaling
    TGF-beta receptor signaling


    Find genes that share SuperPaths with OCLN           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

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

    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


    1 Reactome Pathway for OCLN
        Apoptotic cleavage of cell adhesion proteins


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

        Pathway & Disease-focused RT2 Profiler 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

    Interactions:

        GeneGlobe Interaction Network for OCLN

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

    Selected Interacting proteins for OCLN (Q166251, 2, 3 ENSP000003473794) via UniProtKB, MINT, STRING, and/or I2D (see all 60)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CSNK1EP496741, 2, 3, ENSP000003529294EBI-2903088,EBI-749343 MINT-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
    CSNK2BP678703, ENSP000003650254I2D: score=1 STRING: ENSP00000365025
    ENSG00000224774P678703, ENSP000004156154I2D: score=1 STRING: ENSP00000415615
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    Gene Ontology (GO): Selected biological process terms (see all 7):    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:0045216cell-cell junction organization IMP--
    GO:0046498S-adenosylhomocysteine metabolic process IEA--

    Find genes that share ontologies with OCLN           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for OCLN



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    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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    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 plasmidOCLN 3' UTR sequence
    Inhib. RNA
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    Addgene plasmids for OCLN 
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    Additional mRNA 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

    (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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    OCLN expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    OCLN Expression
    About this image


    OCLN expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 11) fully expand
     
     Tooth (Integumentary System)    fully expand to see all 6 entries
             Early Ameloblasts Dental Enamel
     
     Kidney (Urinary System)    fully expand to see all 5 entries
             Ureteric Bud Cells Ureteric Bud
             Metanephros
     
     Epithelial Cells
             Early Ameloblasts Dental Enamel
     
     Brain (Nervous System)    fully expand to see all 3 entries
             Mature Choroid Plexus Cells Choroid Plexus
             Endothelial cells
     
     Inner Cell Mass (Early Embryonic Tissues)    fully expand to see all 2 entries
             Human embryonic stem cells (family)
    OCLN Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    OCLN Protein Expression

    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

        Pathway & Disease-focused RT2 Profiler 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
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for OCLN

    (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)
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    This gene was present in the common ancestor of chordates.

    Orthologs for OCLN gene from Selected species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ocln1 , 5 occludin1, 5 85.55(n)1
    89.4(a)1
      13 (53.23 cM)5
    182601  NM_008756.21  NP_032782.11 
     1004965075 
    chicken
    (Gallus gallus)
    Aves OCLN6
    Gallus gallus occludin (OCLN), mRNA.
    42(a)
    1 ↔ 1
    AADN03020404.1(184-3512)
    lizard
    (Anolis carolinensis)
    Reptilia OCLN6
    occludin
    64(a)
    1 ↔ 1
    2(16949470-16984218)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia ocln1 occludin 62.95(n)
    58.57(a)
      548702  NM_001015948.1  NP_001015948.1 
    zebrafish
    (Danio rerio)
    Actinopterygii oclna1 occludin a 54.03(n)
    48.12(a)
      405757  NM_212832.2  NP_997997.2 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for OCLN gene

    Find genes that share paralogs with OCLN           About GenesLikeMe


    1 Pseudogenes.org Pseudogene for OCLN
    PGOHUM00000260005


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, 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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for OCLN (see all 732)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 5 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0649104
    Band-like calcification with simplified gyration and polymicrogyria (BLCPMG)4--see VAR_0649102 F S mis40--------
    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,F--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
    C--68786511(+) TTAAAC/TGAAAT 1 -- us2k10--------
    rs1151908101,2
    C--68786512(+) TAAACA/GAAATG 1 -- us2k10--------
    rs1144710201,2
    C,F--68786734(+) GGAGAA/GGGGAA 2 -- us2k10--------

    HapMap Linkage Disequilibrium report for OCLN (68788119 - 68853931 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for OCLN (see all 14):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2669461CNV Deletion23128226
    nsv471498CNV Duplication19718026
    nsv329061CNV Insertion16902084
    esv32846CNV Loss17666407
    nsv821643CNV Loss15273396
    nsv881771CNV Loss21882294
    nsv881768CNV Loss21882294
    esv1009388CNV Gain20482838
    dgv6086n71CNV Gain21882294
    nsv881770CNV Gain21882294

    Human Gene Mutation Database (HGMD): OCLN
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing OCLN
    DNA2.0 Custom Variant and Variant Library Synthesis for OCLN

    (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.)
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    OMIM gene information: 602876   
    OMIM disorders: 251290  
    UniProtKB/Swiss-Prot: OCLN_HUMAN, Q16625
  • Band-like calcification with simplified gyration and polymicrogyria (BLCPMG) [MIM:251290]: 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. Note=The disease is caused by mutations affecting the gene represented in this
    entry

  • 4 diseases for OCLN:    
    About MalaCards
    torch syndrome    pseudo-torch syndrome    polymicrogyria    brain glioma

    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

    Find genes that share disorders with OCLN           About GenesLikeMe


    Export disorders for OCLN gene to outside databases

    (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)
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    PubMed articles for OCLN gene, integrated from 10 sources (see all 143):
    (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. (J. Cell Biol. 1996)
    2. Recessive mutations in the gene encoding the tight junction protein occludin cause band-like calcification with simplified gyration and polymicrogyria. (PubMed id 20727516)1, 2 O'Driscoll M.C.... Crow Y.J. (Am. J. Hum. Genet. 2010)
    3. Splicing diversity of the human OCLN gene and its biological significance for hepatitis C virus entry. (PubMed id 20463075)1, 2 Kohaar I.... Prokunina-Olsson L. (J. Virol. 2010)
    4. PKC eta regulates occludin phosphorylation and epithelial tight junction integrity. (PubMed id 19114660)1, 2 Suzuki T.... Rao R. (Proc. Natl. Acad. Sci. U.S.A. 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. (J. Biol. Chem. 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. (J. Biol. Chem. 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. (J. Proteome Res. 2009)
    8. Large-scale phosphoproteome analysis of human liver tissue by enrichment and fractionation of phosphopeptides with strong anion exchange chromatography. (PubMed id 18318008)1, 2 Han G.... Gu J. (Proteomics 2008)
    9. Human protein factory for converting the transcriptome into an in vitro-expressed proteome. (PubMed id 19054851)1, 2 Goshima N.... Nomura N. (Nat. Methods 2008)
    10. ATM and ATR substrate analysis reveals extensive protein networks responsive to DNA damage. (PubMed id 17525332)1, 2 Matsuoka S.... Elledge S.J. (Science 2007)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

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

    (According to HUGE)
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      --

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

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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