Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
100506658
Gene name Gene Name - the full gene name approved by the HGNC.
Occludin
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
OCLN
Synonyms (NCBI Gene) Gene synonyms aliases
BLCPMG, PPP1R115, PTORCH1
Disease Acronyms (UniProt) Disease acronyms from UniProt database
PTORCH1
Chromosome Chromosome number
5
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
5q13.2
Summary Summary of gene provided in NCBI Entrez 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 a
SNPs SNP information provided by dbSNP.
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.
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 factor Regulation Reference
HEY1 Activation 17028039
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0001933 Process Negative regulation of protein phosphorylation IMP 28718701
GO:0005515 Function Protein binding IPI 16616143, 19332538, 20375010, 21806988, 25241761, 25416956, 26607202, 28514442, 32296183, 32814053
GO:0005765 Component Lysosomal membrane IDA 28718701
GO:0005886 Component Plasma membrane IDA 11090614
GO:0005886 Component Plasma membrane TAS
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
602876 8104 ENSG00000197822
Protein
UniProt ID 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 information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Breast cancer Malignant neoplasm of breast rs587776547, rs1137887, rs137853007, rs587776650, rs80359351, rs80359714, rs121917783, rs104886456, rs121964878, rs80359874, rs80357868, rs80357508, rs387906843, rs80357569, rs80358158
View all (309 more)
17459053, 24014025
Breast carcinoma Breast Carcinoma rs80359671, rs11540652, rs28934575, rs28897672, rs137886232, rs193922376, rs80357783, rs80359306, rs80359405, rs80359507, rs80359598, rs80358429, rs397507683, rs397515636, rs80359451
View all (71 more)
17459053, 24014025
Developmental delay Global developmental delay rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291
View all (32 more)
Marfan syndrome Mammary Carcinoma, Human rs137854456, rs137854457, rs267606796, rs137854458, rs137854459, rs137854460, rs137854470, rs137854471, rs267606797, rs137854461, rs137854462, rs137854463, rs869025419, rs137854464, rs137854465
View all (942 more)
24014025, 17459053
Unknown
Disease term Disease name Evidence References Source
Pseudo-TORCH Syndrome pseudo-TORCH syndrome GenCC
Associations from Text Mining
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