Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
1365
Gene name Gene Name - the full gene name approved by the HGNC.
Claudin 3
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
CLDN3
Synonyms (NCBI Gene) Gene synonyms aliases
C7orf1, CPE-R2, CPETR2, HRVP1, RVP1
Chromosome Chromosome number
7
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
7q11.23
Summary Summary of gene provided in NCBI Entrez Gene.
Tight junctions represent one mode of cell-to-cell adhesion in epithelial or endothelial cell sheets, forming continuous seals around cells and serving as a physical barrier to prevent solutes and water from passing freely through the paracellular space.
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT895355 hsa-miR-1193 CLIP-seq
MIRT895356 hsa-miR-128 CLIP-seq
MIRT895357 hsa-miR-1287 CLIP-seq
MIRT895358 hsa-miR-1293 CLIP-seq
MIRT895359 hsa-miR-1294 CLIP-seq
Transcription factors
Transcription factor Regulation Reference
SNAI1 Repression 19874710
SP1 Activation 17986852
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0001666 Process Response to hypoxia IEP 15174142
GO:0003382 Process Epithelial cell morphogenesis IEA
GO:0003382 Process Epithelial cell morphogenesis ISS
GO:0003406 Process Retinal pigment epithelium development IMP 27593915
GO:0004888 Function Transmembrane signaling receptor activity TAS 9334247
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
602910 2045 ENSG00000165215
Protein
UniProt ID O15551
Protein name Claudin-3 (Clostridium perfringens enterotoxin receptor 2) (CPE-R 2) (CPE-receptor 2) (Rat ventral prostate.1 protein homolog) (hRVP1)
Protein function Barrier-forming claudin. Plays a major role in tight junction-specific obliteration of the intercellular space, through calcium-independent cell-adhesion activity.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00822 PMP22_Claudin 3 180 PMP-22/EMP/MP20/Claudin family Family
Sequence
Sequence length 220
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  
  Virion - Hepatitis viruses
Cell adhesion molecules
Tight junction
Leukocyte transendothelial migration
Pathogenic Escherichia coli infection
Hepatitis C
 
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Colorectal Cancer Colorectal cancer N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma Inhibit 17585317
Adenocarcinoma Associate 21255442, 27363029, 27687058
Adenocarcinoma Stimulate 28160565
Adenocarcinoma Mucinous Stimulate 23529315
Adenocarcinoma of Lung Associate 28160565
Autism Spectrum Disorder Associate 27957319
Barrett Esophagus Stimulate 27363029
Biliary Tract Neoplasms Associate 18854598
Brain Edema Associate 39189437
Breast Neoplasms Associate 15750830, 21883696, 22464177, 23529315, 26919310, 29482498, 31307407, 36412442