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Aliases for OCLN Gene

Aliases for OCLN Gene

  • Occludin 2 3 5
  • 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
  • BLCPMG 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 Sertoli-Sertoli Cell Junction Dynamics and Blood-Brain Barrier and Immune Cell Transmigration: Pathways Overview. GO annotations related to this gene include structural molecule activity and S-adenosylmethionine-dependent methyltransferase 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

Promoters for OCLN Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around OCLN on UCSC Golden Path with GeneCards custom track

Genomic Location for OCLN Gene

Chromosome:
5
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

Genes around OCLN on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
OCLN Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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 Lys 276, Lys 283, and Lys 299
  • Modification sites at PhosphoSitePlus

Other Protein References for OCLN Gene

Antibody Products

No data available for DME Specific Peptides for OCLN Gene

Domains & Families for OCLN Gene

Gene Families 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 :
  • 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.
  • Belongs to the ELL/occludin family.
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

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.
genes like me logo Genes that share phenotypes with OCLN: view

Human Phenotype Ontology for OCLN Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for OCLN Gene

MGI Knock Outs for OCLN:

Inhibitory RNA Products

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Transcription Factor Targets and HOMER Transcription for OCLN Gene

Localization for OCLN Gene

Subcellular locations from UniProtKB/Swiss-Prot for OCLN Gene

Cell 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 5
cytoskeleton 3
cytosol 3
extracellular 2
nucleus 2
peroxisome 2
endosome 1
mitochondrion 1
vacuole 1

Gene Ontology (GO) - Cellular Components for OCLN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005829 cytosol IEA --
GO:0005911 cell-cell junction IDA 19332538
GO:0016324 apical plasma membrane IEA --
GO:0030054 cell junction IDA 24567356
genes like me logo Genes that share ontologies with OCLN: view

Pathways & Interactions for OCLN Gene

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

SIGNOR curated interactions for OCLN Gene

Is activated by:

Gene Ontology (GO) - Biological Process for OCLN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006915 apoptotic process TAS --
GO:0032259 methylation IEA --
GO:0045216 cell-cell junction organization IMP 20164257
GO:0046498 S-adenosylhomocysteine metabolic process IEA --
GO:0070830 bicellular tight junction assembly IMP 20164257
genes like me logo Genes that share ontologies with OCLN: view

Drugs & Compounds for OCLN Gene

No Compound Related Data Available

Transcripts for OCLN Gene

mRNA/cDNA for OCLN Gene

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

Unigene Clusters for OCLN Gene

Occludin:
Representative Sequences:

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

Protein differential expression in normal tissues from HIPED for OCLN Gene

This gene is overexpressed in Liver, secretome (21.9), Cervix (10.4), Pancreas (8.3), and Islet of Langerhans (7.2).

Integrated Proteomics: protein expression in normal tissues and cell lines 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 expression patterns with OCLN: view

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues and Protein tissue co-expression partners 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
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
chimpanzee
(Pan troglodytes)
Mammalia OCLN 35
  • 99.55 (n)
  • 99.81 (a)
OCLN 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ocln 35
  • 83.91 (n)
  • 87.74 (a)
oppossum
(Monodelphis domestica)
Mammalia OCLN 36
  • 80 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia OCLN 36
  • 84 (a)
OneToOne
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
VAR_064910 Band-like calcification with simplified gyration and polymicrogyria (BLCPMG)
rs2561167 -- 69,545,526(-) agcct(C/T)ccgag intron-variant
rs2666597 -- 69,555,593(-) ATAAT(C/T)CAAAA utr-variant-3-prime
rs2666598 -- 69,555,470(-) ccaac(A/G)tggag utr-variant-3-prime
rs3066092 -- 69,512,036(+) aaaaa(-/AG/GA)aaaaa 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

Variation tolerance for OCLN Gene

Residual Variation Intolerance Score: 70.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.88; 35.09% of all genes are more intolerant (likely to be disease-causing)

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

MalaCards: The human disease database

(7) MalaCards diseases for OCLN Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
band-like calcification with simplified gyration and polymicrogyria
  • pseudo-torch syndrome
congenital intrauterine infection-like syndrome
  • band-like calcification with simplified gyration and polymicrogyria
polymicrogyria
  • pmg
torch syndrome
acute vascular insufficiency of intestine
  • acute gastrointestinal tract vascular insuffic.
- elite association - COSMIC cancer census association via MalaCards
Search OCLN in MalaCards View complete list of genes associated with diseases

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.

Relevant External Links for OCLN

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
OCLN
genes like me logo Genes that share disorders with OCLN: view

No data available for Genatlas for OCLN Gene

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 67
  2. miR-34c regulates the permeability of blood-tumor barrier via MAZ-mediated expression changes of ZO-1, occludin, and claudin-5. (PMID: 25201524) Zhao L. … Xue Y. (J. Cell. Physiol. 2015) 3
  3. Zonula occludens-1, occludin and E-cadherin expression and organization in salivary glands with SjAPgren's syndrome. (PMID: 25248927) Mellas R.E. … Baker O.J. (J. Histochem. Cytochem. 2015) 3
  4. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  5. MiR-18a increased the permeability of BTB via RUNX1 mediated down-regulation of ZO-1, occludin and claudin-5. (PMID: 25452107) Miao Y.S. … Xue Y.X. (Cell. Signal. 2015) 3

Products for OCLN Gene

Sources for OCLN Gene

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