Human Gene OCLN (ENST00000396442.7_5) from GENCODE V47lift37
  Description: occludin, transcript variant 2 (from RefSeq NM_001205254.2)
Gencode Transcript: ENST00000396442.7_5
Gencode Gene: ENSG00000197822.12_9
Transcript (Including UTRs)
   Position: hg19 chr5:68,788,617-68,853,931 Size: 65,315 Total Exon Count: 9 Strand: +
Coding Region
   Position: hg19 chr5:68,800,072-68,849,498 Size: 49,427 Coding Exon Count: 8 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr5:68,788,617-68,853,931)mRNA (may differ from genome)Protein (522 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedReactome
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: OCLN_HUMAN
DESCRIPTION: RecName: Full=Occludin;
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.
SUBUNIT: Interacts with TJP1/ZO1 and with VAPA.
SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein. Cell junction, tight junction.
TISSUE SPECIFICITY: Localized at tight junctions of both epithelial and endothelial cells. Highly expressed in kidney. Not detected in testis.
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.
PTM: Phosphorylated upon DNA damage, probably by ATM or ATR. 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.
DISEASE: 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.
SIMILARITY: Belongs to the ELL/occludin family.
SIMILARITY: Contains 1 MARVEL domain.
WEB RESOURCE: Name=Wikipedia; Note=Occludin entry; URL="http://en.wikipedia.org/wiki/Occludin";

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: OCLN
Diseases sorted by gene-association score: pseudo-torch syndrome 1* (1686), congenital intrauterine infection-like syndrome* (400), torch syndrome (39), acute vascular insufficiency of intestine (8), night blindness, congenital stationary , 1a, x-linked (6), acute hemorrhagic leukoencephalitis (6), deafness, autosomal recessive 49 (6), retinal vascular disease (4)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 13.63 RPKM in Thyroid
Total median expression: 141.89 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -71.90179-0.402 Picture PostScript Text
3' UTR -1118.604433-0.252 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR008253 - Marvel
IPR021128 - MARVEL-like_dom
IPR002958 - Occludin
IPR010844 - Occludin_RNApol2_elong_fac_ELL

Pfam Domains:
PF01284 - Membrane-associating domain
PF07303 - Occludin homology domain

SCOP Domains:
56399 - ADP-ribosylation
103473 - MFS general substrate transporter
144292 - occludin/ELL-like

Protein Data Bank (PDB) 3-D Structure
MuPIT help
1WPA - X-ray MuPIT 1XAW - X-ray MuPIT 3G7C - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on Q16625
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGD    
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005515 protein binding
GO:0019904 protein domain specific binding

Biological Process:
GO:0045216 cell-cell junction organization
GO:0065003 macromolecular complex assembly
GO:0070673 response to interleukin-18
GO:0070830 bicellular tight junction assembly
GO:0071356 cellular response to tumor necrosis factor
GO:2000810 regulation of bicellular tight junction assembly

Cellular Component:
GO:0005886 plasma membrane
GO:0005911 cell-cell junction
GO:0005923 bicellular tight junction
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0016324 apical plasma membrane
GO:0016327 apicolateral plasma membrane
GO:0016328 lateral plasma membrane
GO:0030054 cell junction
GO:0030139 endocytic vesicle
GO:0031410 cytoplasmic vesicle


-  Descriptions from all associated GenBank mRNAs
  U53823 - Human tight junction protein occludin mRNA, complete cds.
U49184 - Human occludin mRNA, complete cds.
AK313501 - Homo sapiens cDNA, FLJ94056.
BC029886 - Homo sapiens occludin, mRNA (cDNA clone MGC:34277 IMAGE:5179203), complete cds.
AK290697 - Homo sapiens cDNA FLJ77961 complete cds, highly similar to Homo sapiens occludin (OCLN), mRNA.
FJ786083 - Homo sapiens clone OCLN_ex3_del OCLN mRNA, complete cds, alternatively spliced.
FJ786084 - Homo sapiens clone OCLN_ex3-4_del OCLN mRNA, complete cds, alternatively spliced.
GQ225096 - Homo sapiens occludin splice variant mRNA, complete cds, alternatively spliced.
GQ225097 - Homo sapiens occludin splice variant mRNA, complete cds, alternatively spliced.
GQ225098 - Homo sapiens occludin splice variant mRNA, complete cds, alternatively spliced.
GQ402517 - Homo sapiens occludin variant (OCLN) mRNA, complete cds, alternatively spliced.
AB587564 - Synthetic construct DNA, clone: pF1KE1394, Homo sapiens OCLN gene for occludin, without stop codon, in Flexi system.
DQ895637 - Synthetic construct Homo sapiens clone IMAGE:100010097; FLH186202.01L; RZPDo839C0161D occludin (OCLN) gene, encodes complete protein.
DQ892423 - Synthetic construct clone IMAGE:100005053; FLH186206.01X; RZPDo839C0171D occludin (OCLN) gene, encodes complete protein.
KJ897273 - Synthetic construct Homo sapiens clone ccsbBroadEn_06667 OCLN gene, encodes complete protein.
AB451437 - Homo sapiens OCLN mRNA for occludin, partial cds, clone: FLJ08163AAAF.
AB451306 - Homo sapiens OCLN mRNA for occludin, complete cds, clone: FLJ08163AAAN.
LF213331 - JP 2014500723-A/20834: Polycomb-Associated Non-Coding RNAs.
LF212549 - JP 2014500723-A/20052: Polycomb-Associated Non-Coding RNAs.
JD084639 - Sequence 65663 from Patent EP1572962.
JD113717 - Sequence 94741 from Patent EP1572962.
LF332439 - JP 2014500723-A/139942: Polycomb-Associated Non-Coding RNAs.
CS123439 - Sequence 10 from Patent WO2005058362.
MA568016 - JP 2018138019-A/139942: Polycomb-Associated Non-Coding RNAs.
MA448908 - JP 2018138019-A/20834: Polycomb-Associated Non-Coding RNAs.
MA448126 - JP 2018138019-A/20052: Polycomb-Associated Non-Coding RNAs.
AK311037 - Homo sapiens cDNA, FLJ18079.
LF332436 - JP 2014500723-A/139939: Polycomb-Associated Non-Coding RNAs.
LF332435 - JP 2014500723-A/139938: Polycomb-Associated Non-Coding RNAs.
LF332434 - JP 2014500723-A/139937: Polycomb-Associated Non-Coding RNAs.
LF332433 - JP 2014500723-A/139936: Polycomb-Associated Non-Coding RNAs.
JD503482 - Sequence 484506 from Patent EP1572962.
LF332432 - JP 2014500723-A/139935: Polycomb-Associated Non-Coding RNAs.
JD502553 - Sequence 483577 from Patent EP1572962.
JD089980 - Sequence 71004 from Patent EP1572962.
JD268857 - Sequence 249881 from Patent EP1572962.
JD148597 - Sequence 129621 from Patent EP1572962.
JD555102 - Sequence 536126 from Patent EP1572962.
JD220885 - Sequence 201909 from Patent EP1572962.
JD488991 - Sequence 470015 from Patent EP1572962.
JD499587 - Sequence 480611 from Patent EP1572962.
JD499588 - Sequence 480612 from Patent EP1572962.
JD553898 - Sequence 534922 from Patent EP1572962.
JD264588 - Sequence 245612 from Patent EP1572962.
JD321631 - Sequence 302655 from Patent EP1572962.
JD560723 - Sequence 541747 from Patent EP1572962.
JD476795 - Sequence 457819 from Patent EP1572962.
JD414977 - Sequence 396001 from Patent EP1572962.
JD379743 - Sequence 360767 from Patent EP1572962.
JD312197 - Sequence 293221 from Patent EP1572962.
JD346690 - Sequence 327714 from Patent EP1572962.
DQ786238 - Homo sapiens clone HLS_IMAGE_1881469 mRNA sequence.
DQ786240 - Homo sapiens clone HLS_IMAGE_1930209 mRNA sequence.
MA568013 - JP 2018138019-A/139939: Polycomb-Associated Non-Coding RNAs.
MA568012 - JP 2018138019-A/139938: Polycomb-Associated Non-Coding RNAs.
MA568011 - JP 2018138019-A/139937: Polycomb-Associated Non-Coding RNAs.
MA568010 - JP 2018138019-A/139936: Polycomb-Associated Non-Coding RNAs.
MA568009 - JP 2018138019-A/139935: Polycomb-Associated Non-Coding RNAs.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q16625 (Reactome details) participates in the following event(s):

R-HSA-351876 Caspase-mediated cleavage of occludin
R-HSA-351906 Apoptotic cleavage of cell adhesion proteins
R-HSA-8935964 RUNX1 regulates expression of components of tight junctions
R-HSA-111465 Apoptotic cleavage of cellular proteins
R-HSA-8878171 Transcriptional regulation by RUNX1
R-HSA-75153 Apoptotic execution phase
R-HSA-212436 Generic Transcription Pathway
R-HSA-109581 Apoptosis
R-HSA-73857 RNA Polymerase II Transcription
R-HSA-5357801 Programmed Cell Death
R-HSA-74160 Gene expression (Transcription)

-  Other Names for This Gene
  Alternate Gene Symbols: B5BU70, D2DU64, D2DU65, D2IGC0, D2IGC1, E2CYV9, ENST00000396442.1, ENST00000396442.2, ENST00000396442.3, ENST00000396442.4, ENST00000396442.5, ENST00000396442.6, NM_001205254, OCLN_HUMAN, Q16625, Q5U1V4, Q8N6K1, uc318ygj.1, uc318ygj.2
UCSC ID: ENST00000396442.7_5
RefSeq Accession: NM_001205254.2
Protein: Q16625 (aka OCLN_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.