Gene Gene information from NCBI Gene database.
Entrez ID 1365
Gene name Claudin 3
Gene symbol CLDN3
Synonyms (NCBI Gene)
C7orf1CPE-R2CPETR2HRVP1RVP1
Chromosome 7
Chromosome location 7q11.23
Summary 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.
162
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 factors information provided by TRRUST V2 database.
2
Transcription factor Regulation Reference
SNAI1 Repression 19874710
SP1 Activation 17986852
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
55
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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
602910 2045 ENSG00000165215
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
 
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
8
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ATOPIC RHINITIS Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDER CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDERS Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
COLORECTAL CANCER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adenocarcinoma Adenocarcinoma BEFREE 16287068, 16540726, 17429687, 17647191, 23385421, 28783170, 29285188
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma LHGDN 17418912
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 25935651, 28160565, 29928392
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of prostate Prostate adenocarcinoma BEFREE 11691807
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma, Endometrioid Endometrial Cancer BEFREE 17291259
★☆☆☆☆
Found in Text Mining only
Anemia, Sickle Cell Anemia BEFREE 31209247
★☆☆☆☆
Found in Text Mining only
Autism Spectrum Disorder Autism Pubtator 27957319 Associate
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Barrett Esophagus Barrett esophagus Pubtator 27363029 Stimulate
★☆☆☆☆
Found in Text Mining only
Benign Prostatic Hyperplasia Benign Prostatic Hyperplasia BEFREE 28396511
★☆☆☆☆
Found in Text Mining only
Biliary Tract Neoplasms Biliary tract neoplasms Pubtator 18854598 Associate
★☆☆☆☆
Found in Text Mining only