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Aliases for OCLN Gene

Aliases for OCLN Gene

  • Occludin 2 3
  • BLCPMG 3 6
  • Tight Junction Protein Occludin TM4 Minus 2
  • Phosphatase 1, Regulatory Subunit 115 3
  • Tight Junction Protein Occludin 3
  • Regulatory Subunit 115 2
  • Phosphatase 1 2
  • PPP1R115 3

External Ids for OCLN Gene

Previous GeneCards Identifiers for OCLN Gene

  • GC05P068940
  • GC05P070353
  • GC05P068803
  • GC05P068823
  • GC05P068788
  • GC05P065744

Summaries for OCLN Gene

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 band-like calcification with simplified gyration and polymicrogyria and congenital intrauterine infection-like syndrome. Among its related pathways are Integrin Pathway and Development Slit-Robo signaling. GO annotations related to this gene include structural molecule activity.

UniProtKB/Swiss-Prot for OCLN Gene

  • 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 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for OCLN Gene

Genomics for OCLN Gene

Regulatory Elements for OCLN Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for OCLN Gene

Start:
69,492,292 bp from pter
End:
69,558,104 bp from pter
Size:
65,813 bases
Orientation:
Plus strand

Genomic View for OCLN Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for OCLN Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for OCLN Gene

Proteins for OCLN Gene

  • Protein details for OCLN Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q16625-OCLN_HUMAN
    Recommended name:
    Occludin
    Protein Accession:
    Q16625
    Secondary Accessions:
    • B5BU70
    • D2DU64
    • D2DU65
    • D2IGC0
    • D2IGC1
    • E2CYV9
    • Q5U1V4
    • Q8N6K1

    Protein attributes for OCLN Gene

    Size:
    522 amino acids
    Molecular mass:
    59144 Da
    Quaternary structure:
    • Interacts with TJP1/ZO1 and with VAPA.

    Three dimensional structures from OCA and Proteopedia for OCLN Gene

    Alternative splice isoforms for OCLN Gene

neXtProt entry for OCLN Gene

Proteomics data for OCLN Gene at MOPED

Post-translational modifications for OCLN Gene

  • 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 TJP1.
  • Ubiquitination at Lys276, Lys283, and Lys299
  • Modification sites at PhosphoSitePlus

Other Protein References for OCLN Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

Antibody Products

No data available for DME Specific Peptides for OCLN Gene

Domains for OCLN Gene

Suggested Antigen Peptide Sequences for OCLN Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q16625

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.
  • Contains 1 MARVEL domain.
Family:
  • Belongs to the ELL/occludin family.
genes like me logo Genes that share domains with OCLN: view

No data available for Gene Families for OCLN Gene

Function for OCLN Gene

Molecular function for OCLN Gene

GENATLAS Biochemistry: 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
UniProtKB/Swiss-Prot 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 Ontology (GO) - Molecular Function for OCLN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005198 structural molecule activity --
GO:0005515 protein binding IPI 16616143
GO:0008119 thiopurine S-methyltransferase activity IEA --
GO:0008757 S-adenosylmethionine-dependent methyltransferase activity --
GO:0019904 protein domain specific binding IPI 20164257
genes like me logo Genes that share ontologies with OCLN: view
genes like me logo Genes that share phenotypes with OCLN: view

Animal Models for OCLN Gene

MGI Knock Outs for OCLN:

miRNA for OCLN Gene

miRTarBase miRNAs that target OCLN

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for OCLN

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting and HOMER Transcription for OCLN Gene

Localization for OCLN Gene

Subcellular locations from UniProtKB/Swiss-Prot for OCLN Gene

Membrane; Multi-pass membrane protein. Cell junction, tight junction.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for OCLN Gene COMPARTMENTS Subcellular localization image for OCLN gene
Compartment Confidence
plasma membrane 4
cytoskeleton 3
extracellular 2
peroxisome 2
endosome 1
nucleus 1

Gene Ontology (GO) - Cellular Components for OCLN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005829 cytosol IEA --
GO:0005886 plasma membrane TAS --
GO:0005911 cell-cell junction IDA 19332538
GO:0005923 bicellular tight junction IDA 20028514
GO:0016020 membrane --
genes like me logo Genes that share ontologies with OCLN: view

Pathways for OCLN Gene

genes like me logo Genes that share pathways with OCLN: view

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays
    • Cancer PathwayFinder in human,mouse,rat
    • Cell Junction PathwayFinder in human,mouse,rat
    • Endothelial Cell Biology in human,mouse,rat
    • Epithelial to Mesenchymal Transition (EMT) in human,mouse,rat
    • Tight Junctions in human,mouse,rat

Gene Ontology (GO) - Biological Process for OCLN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006461 protein complex assembly TAS 10749869
GO:0006915 apoptotic process TAS --
GO:0006921 cellular component disassembly involved in execution phase of apoptosis TAS --
GO:0012501 programmed cell death TAS --
GO:0032259 methylation IEA --
genes like me logo Genes that share ontologies with OCLN: view

Transcripts for OCLN Gene

mRNA/cDNA for OCLN Gene

(15) Additional mRNA sequences :
(3) REFSEQ mRNAs :
(5) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for OCLN Gene

Occludin:
Representative Sequences:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for OCLN

Primer Products

  • QuantiTect SYBR Green Assays in human,mouse,rat
  • Pre-validated RT² qPCR Primer Assay in human,mouse,rat
  • QuantiFast Probe-based Assays in human,mouse,rat

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for OCLN Gene

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

Relevant External Links for OCLN Gene

GeneLoc Exon Structure for
OCLN
ECgene alternative splicing isoforms for
OCLN

Expression for OCLN Gene

mRNA expression in normal human tissues for OCLN Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for OCLN Gene

SOURCE GeneReport for Unigene cluster for OCLN Gene Hs.592605

mRNA Expression by UniProt/SwissProt for OCLN Gene

Q16625-OCLN_HUMAN
Tissue specificity: Localized at tight junctions of both epithelial and endothelial cells. Highly expressed in kidney. Not detected in testis
genes like me logo Genes that share expressions with OCLN: view

In Situ Assay Products

No data available for mRNA differential expression in normal tissues for OCLN Gene

Orthologs for OCLN Gene

This gene was present in the common ancestor of chordates.

Orthologs for OCLN Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia OCLN 35
  • 99.55 (n)
  • 99.81 (a)
OCLN 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia OCLN 35
  • 87.78 (n)
  • 90.4 (a)
OCLN 36
  • 91 (a)
OneToOne
dog
(Canis familiaris)
Mammalia OCLN 35
  • 87.97 (n)
  • 91.36 (a)
OCLN 36
  • 82 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ocln 35
  • 85.55 (n)
  • 89.4 (a)
Ocln 16
Ocln 36
  • 90 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia OCLN 36
  • 80 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia OCLN 36
  • 84 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ocln 35
  • 83.91 (n)
  • 87.74 (a)
chicken
(Gallus gallus)
Aves OCLN 36
  • 42 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia OCLN 36
  • 64 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ocln 35
  • 62.95 (n)
  • 58.57 (a)
zebrafish
(Danio rerio)
Actinopterygii oclna 35
  • 54.03 (n)
  • 48.12 (a)
oclna 36
  • 45 (a)
OneToMany
oclnb 36
  • 44 (a)
OneToMany
Species with no ortholog for OCLN:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for OCLN Gene

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

Paralogs for OCLN Gene

Pseudogenes.org Pseudogenes for OCLN Gene

genes like me logo Genes that share paralogs with OCLN: view

No data available for Paralogs for OCLN Gene

Variants for OCLN Gene

Sequence variations from dbSNP and Humsavar for OCLN Gene

SNP ID Clin Chr 05 pos Sequence Context AA Info Type MAF
rs256914 -- 69,534,210(+) AATGG(A/T)TTAAG intron-variant
rs256919 -- 69,549,263(+) gtgaa(C/T)ccagg intron-variant
rs256925 -- 69,555,714(+) TTTTG(A/G)ATTTA utr-variant-3-prime
rs699901 -- 69,557,203(+) TTCCA(A/G)TTGCT utr-variant-3-prime
rs2434511 -- 69,548,538(-) TCGAG(A/G)CCATC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for OCLN Gene

Variant ID Type Subtype PubMed ID
nsv821643 CNV Loss 15273396
nsv881768 CNV Loss 21882294
nsv428117 CNV Gain+Loss 18775914
dgv6086n71 CNV Gain 21882294
nsv329061 CNV Insertion 16902084
nsv514309 CNV Complex 21397061
nsv10707 CNV Gain+Loss 18304495
nsv881770 CNV Gain 21882294
nsv881771 CNV Loss 21882294
esv2669461 CNV Deletion 23128226
esv32846 CNV Loss 17666407
esv22113 CNV Gain+Loss 19812545
esv1009388 CNV Gain 20482838
nsv471498 CNV Duplication 19718026

Relevant External Links for OCLN Gene

HapMap Linkage Disequilibrium report
OCLN
Human Gene Mutation Database (HGMD)
OCLN

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for OCLN Gene

Disorders for OCLN Gene

(1) OMIM Diseases for OCLN Gene (602876)

UniProtKB/Swiss-Prot

OCLN_HUMAN
  • 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. {ECO:0000269 PubMed:20727516}. Note=The disease is caused by mutations affecting the gene represented in this entry.
genes like me logo Genes that share disorders with OCLN: view

Publications for OCLN Gene

  1. Interspecies diversity of the occludin sequence: cDNA cloning of human, mouse, dog, and rat-kangaroo homologues. (PMID: 8601611) Ando-Akatsuka Y. … Tsukita S. (J. Cell Biol. 1996) 2 3 4
  2. Occludin confers adhesiveness when expressed in fibroblasts. (PMID: 9175707) Van Itallie C.M. … Anderson J.M. (J. Cell Sci. 1997) 3 4
  3. Occludin TM4(-): an isoform of the tight junction protein present in primates lacking the fourth transmembrane domain. (PMID: 12118072) Ghassemifar M.R. … Fleming T.P. (J. Cell Sci. 2002) 3 4
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4
  5. ATM and ATR substrate analysis reveals extensive protein networks responsive to DNA damage. (PMID: 17525332) Matsuoka S. … Elledge S.J. (Science 2007) 3 4

Products for OCLN Gene

Sources for OCLN Gene

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