Gene Gene information from NCBI Gene database.
Entrez ID 100506658
Gene name Occludin
Gene symbol OCLN
Synonyms (NCBI Gene)
BLCPMGPPP1R115PTORCH1
Chromosome 5
Chromosome location 5q13.2
Summary 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 a
SNPs SNP information provided by dbSNP.
12
SNP ID Visualize variation Clinical significance Consequence
rs267606926 T>C Pathogenic Intron variant, missense variant, coding sequence variant
rs730882227 ->T Likely-pathogenic Coding sequence variant, frameshift variant, intron variant
rs748442113 G>A,T Pathogenic Splice donor variant
rs749237456 ->A Pathogenic Coding sequence variant, stop gained, intron variant
rs797045840 G>A Pathogenic Intron variant
miRNA miRNA information provided by mirtarbase database.
1078
miRTarBase ID miRNA Experiments Reference
MIRT018585 hsa-miR-335-5p Microarray 18185580
MIRT052167 hsa-let-7b-5p CLASH 23622248
MIRT051654 hsa-let-7e-5p CLASH 23622248
MIRT051654 hsa-let-7e-5p CLASH 23622248
MIRT540359 hsa-miR-8485 HITS-CLIP 23824327
Transcription factors Transcription factors information provided by TRRUST V2 database.
1
Transcription factor Regulation Reference
HEY1 Activation 17028039
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
44
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 16616143, 19114660, 19332538, 20375010, 21806988, 25241761, 25416956, 26607202, 28514442, 32296183, 32814053, 33961781
GO:0005765 Component Lysosomal membrane IDA 28718701
GO:0005886 Component Plasma membrane IDA 11090614
GO:0005886 Component Plasma membrane IEA
GO:0005886 Component Plasma membrane TAS 8601611
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
602876 8104 ENSG00000197822
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q16625
Protein name Occludin
Protein 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. ; (Microbial inf
PDB 1WPA , 1XAW , 3G7C
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01284 MARVEL 57 263 Membrane-associating domain Domain
PF07303 Occludin_ELL 420 519 Occludin homology domain Domain
Tissue specificity TISSUE SPECIFICITY: Localized at tight junctions of both epithelial and endothelial cells. Highly expressed in kidney. Not detected in testis. {ECO:0000269|PubMed:23239027}.
Sequence
MSSRPLESPPPYRPDEFKPNHYAPSNDIYGGEMHVRPMLSQPAYSFYPEDEILHFYKWTS
PPGVIRILSMLIIVMCIAIFACVASTLAWDRGYGTSLLGGSVGYPYGGSGFGSYGSGYGY
GYGYGYGYGGYTDPRAAKGFMLAMAAFCFIAALVIFVTSVIRSEMSRTRRYYLSVIIVSA
ILGIMVFIATIVYIMGVNPTAQSSGSLYGSQIYALCNQFYTPAATGLYVDQYLYHYCVVD
PQEAIAIVLGFMIIVAFALIIFF
AVKTRRKMDRYDKSNILWDKEHIYDEQPPNVEEWVKN
VSAGTQDVPSPPSDYVERVDSPMAYSSNGKVNDKRFYPESSYKSTPVPEVVQELPLTSPV
DDFRQPRYSSGGNFETPSKRAPAKGRAGRSKRTEQDHYETDYTTGGESCDELEEDWIREY
PPITSDQQRQLYKRNFDTGLQEYKSLQSELDEINKELSRLDKELDDYREESEEYMAAADE
YNRLKQVKGSADYKSKKNHCKQLKSKLSHIKKMVGDYDR
QKT
Sequence length 522
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Virion - Hepatitis viruses
Cell adhesion molecules
Tight junction
Leukocyte transendothelial migration
Pathogenic Escherichia coli infection
Hepatitis C
  Apoptotic cleavage of cell adhesion proteins
RUNX1 regulates expression of components of tight junctions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
35
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
OCLN-related disorder Pathogenic rs373915080 RCV004758162
Pseudo-TORCH syndrome 1 Likely pathogenic; Pathogenic rs1580547828, rs373915080, rs1390469424, rs759507153, rs797045840, rs863225128, rs1561334604, rs749237456, rs267606926, rs2531231205, rs2531217950, rs2531123144, rs748442113, rs1580554633 RCV001330740
RCV001330739
RCV001784766
RCV002052138
RCV000194654
RCV000201608
RCV000007142
RCV000007143
RCV000007144
RCV003156199
RCV003447895
RCV003486333
RCV000500514
RCV000985182
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Cerebral calcification Uncertain significance rs730882227 RCV000162145
Global developmental delay Uncertain significance rs730882227 RCV000162145
Primary microcephaly Uncertain significance rs730882227 RCV000162145
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Acute Lung Injury Associate 23661517
Adenocarcinoma Associate 9212730
Adenocarcinoma Follicular Associate 17962811
Adenocarcinoma of Lung Associate 30310131
Adenoma Associate 17962811
Allergic Fungal Sinusitis Associate 22927233
Alzheimer Disease Stimulate 17635647
Alzheimer Disease Associate 20041969, 24731980
Attention Deficit and Disruptive Behavior Disorders Associate 27164683
Baraitser Brett Piesowicz syndrome Associate 27164683