CLDN3 claudin 3 [Homo sapiens (human)] - Gene

Summary

Official Symbol: CLDN3provided by HGNC
Official Full Name: claudin 3provided by HGNC
Primary source: HGNC:HGNC:2045
See related: Ensembl:ENSG00000165215 MIM:602910; AllianceGenome:HGNC:2045
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: RVP1; HRVP1; C7orf1; CPE-R2; CPETR2
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. These junctions are comprised of sets of continuous networking strands in the outwardly facing cytoplasmic leaflet, with complementary grooves in the inwardly facing extracytoplasmic leaflet. The protein encoded by this intronless gene, a member of the claudin family, is an integral membrane protein and a component of tight junction strands. It is also a low-affinity receptor for Clostridium perfringens enterotoxin, and shares aa sequence similarity with a putative apoptosis-related protein found in rat. [provided by RefSeq, Jul 2008]
Orthologs: mouse all
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Genomic context

Location:: 7q11.23

Exon count:: 1

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	7	NC_000007.14 (73768997..73770270, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	7	NC_060931.1 (74969874..74971147, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	7	NC_000007.13 (73183327..73184600, complement)

Chromosome 7 - NC_000007.14 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Loss of claudin-3 expression increases colitis risk by promoting Gut Dysbiosis.
Title: Loss of claudin-3 expression increases colitis risk by promoting Gut Dysbiosis.
Claudin-3 facilitates the progression and mediates the tumorigenic effects of TGF-beta in glioblastoma multiforme.
Title: Claudin-3 facilitates the progression and mediates the tumorigenic effects of TGF-β in glioblastoma multiforme.
Claudin-3 is a novel intestinal integrity marker in patients with alopecia areata: Correlation with the disease severity.
Title: Claudin-3 is a novel intestinal integrity marker in patients with alopecia areata: Correlation with the disease severity.
Tight junction formation by a claudin mutant lacking the COOH-terminal PDZ domain-binding motif.
Title: Tight junction formation by a claudin mutant lacking the COOH-terminal PDZ domain-binding motif.
Comparison of claudin-3 and claudin-4 expression in bilateral and unilateral breast cancer.
Title: Comparison of claudin-3 and claudin-4 expression in bilateral and unilateral breast cancer.
Nglycosylation and receptor tyrosine kinase signaling affect claudin3 levels in colorectal cancer cells.
Title: N‑glycosylation and receptor tyrosine kinase signaling affect claudin‑3 levels in colorectal cancer cells.
Claudin-1 and Claudin-3 as Molecular Regulators of Myelination in Leukoaraiosis Patients.
Title: Claudin-1 and Claudin-3 as Molecular Regulators of Myelination in Leukoaraiosis Patients.
All Benign and Malignant Apocrine Breast Lesions Over-Express Claudin 1 and 3 and Are Negative for Claudin 4.
Title: All Benign and Malignant Apocrine Breast Lesions Over-Express Claudin 1 and 3 and Are Negative for Claudin 4.
abnormal nuclear expression of claudin-3 was observed in 69.6% cases
Title: [Claudin-3 expression in gastric cancer].
CLDN3, CK5, and CK14 in combination with ER, PR and HER2 indicate an association with BRCA1 mutation status in women with early breast cancer.
Title: Association of Cytokeratin 5 and Claudin 3 expression with BRCA1 and BRCA2 germline mutations in women with early breast cancer.

Submit: New GeneRIF Correction See all GeneRIFs (85)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Replication interactions

Interaction	Pubs
Knockdown of claudin 3 (CLDN3) by shRNA library screening inhibits HIV-1 replication in cultured Jurkat T-cells	PubMed

Protein interactions

Protein	Gene	Interaction	Pubs
Envelope surface glycoprotein gp120	env	The exposure to HIV-1 or HIV-1 gp120 results in a significant downregulation of tight junction proteins ZO-1, Occludin, Claudin-1, Claudin-2, Claudin-3, Claudin-4, and Claudin-5 in human retinal pigment epithelial cells	PubMed
	env	The expression of tight junction proteins ZO-1, JAM-2, Occludin, Claudin-3 and Claudin-5 is modulated by HIV-1 gp120, and the modulated TJ expression involves Rho-A activation	PubMed
Tat	tat	HIV-1 Tat disrupts and downregulates the tight-junction proteins claudin-1, claudin-3, and claudin-4 in retinal pigment epithelial cells, whereas claudin-2 is upregulated	PubMed

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Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH93920 (e-PCR)
- UniSTS:84235

CLDN3_194 (e-PCR)
- UniSTS:277103

Cldn3 (e-PCR), detects polymorphism
- UniSTS:465377

D7S3297 (e-PCR)
- UniSTS:254196

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables structural molecule activity	IEA Inferred from Electronic Annotation more info
enables transmembrane signaling receptor activity	TAS Traceable Author Statement more info	PubMed

Process	Evidence Code	Pubs
involved_in actin cytoskeleton organization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in bicellular tight junction assembly	IBA Inferred from Biological aspect of Ancestor more info
involved_in bicellular tight junction assembly	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in calcium-independent cell-cell adhesion via plasma membrane cell-adhesion molecules	IEA Inferred from Electronic Annotation more info
involved_in cell adhesion	IBA Inferred from Biological aspect of Ancestor more info
involved_in cell junction maintenance	ISS Inferred from Sequence or Structural Similarity more info
involved_in epithelial cell morphogenesis	ISS Inferred from Sequence or Structural Similarity more info
involved_in establishment of endothelial blood-brain barrier	ISS Inferred from Sequence or Structural Similarity more info
involved_in maintenance of blood-brain barrier	NAS Non-traceable Author Statement more info	PubMed
involved_in negative regulation of cell migration	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of cell population proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of gene expression	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of wound healing	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of bicellular tight junction assembly	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of cell junction assembly	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of cell migration	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of gene expression	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of metallopeptidase activity	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of protein phosphorylation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of wound healing	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of cell morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of membrane permeability	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of transepithelial transport	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in response to Gram-positive bacterium	IEA Inferred from Electronic Annotation more info
involved_in response to ethanol	IEA Inferred from Electronic Annotation more info
involved_in response to hypoxia	IEP Inferred from Expression Pattern more info	PubMed

Component	Evidence Code	Pubs
located_in apical junction complex	IMP Inferred from Mutant Phenotype more info	PubMed
located_in apicolateral plasma membrane	IEA Inferred from Electronic Annotation more info
is_active_in bicellular tight junction	IBA Inferred from Biological aspect of Ancestor more info
located_in bicellular tight junction	IDA Inferred from Direct Assay more info	PubMed
located_in bicellular tight junction	ISS Inferred from Sequence or Structural Similarity more info
located_in cell-cell junction	IDA Inferred from Direct Assay more info	PubMed
located_in lateral plasma membrane	IEA Inferred from Electronic Annotation more info
located_in membrane	TAS Traceable Author Statement more info	PubMed
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
part_of protein-containing complex	IDA Inferred from Direct Assay more info	PubMed
located_in tight junction	IDA Inferred from Direct Assay more info	PubMed
located_in tight junction	IMP Inferred from Mutant Phenotype more info	PubMed

General protein information

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Preferred Names: claudin-3

Names: CPE-R 2; CPE-receptor 2; Clostridium perfringens enterotoxin receptor 2; ventral prostate.1 protein homolog; ventral prostate.1-like protein

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.