CLDN4 claudin 4 [Homo sapiens (human)] - Gene

Summary

Official Symbol: CLDN4provided by HGNC
Official Full Name: claudin 4provided by HGNC
Primary source: HGNC:HGNC:2046
See related: Ensembl:ENSG00000189143 MIM:602909; AllianceGenome:HGNC:2046
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: CPER; CPE-R; CPETR; CPETR1; WBSCR8; hCPE-R
Summary: The protein encoded by this intronless gene belongs to the claudin family. Claudins are integral membrane proteins that are components of the epithelial cell tight junctions, which regulate movement of solutes and ions through the paracellular space. This protein is a high-affinity receptor for Clostridium perfringens enterotoxin (CPE) and may play a role in internal organ development and function during pre- and postnatal life. This gene is deleted in Williams-Beuren syndrome, a neurodevelopmental disorder affecting multiple systems. [provided by RefSeq, Sep 2013]
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 (73830996..73832690)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	7	NC_060931.1 (75031891..75033585)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	7	NC_000007.13 (73245326..73247020)

Chromosome 7 - NC_000007.14 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Immunohistochemical Expression of Claudin-1 and Claudin-4 in Urothelial Carcinoma of the Urinary Bladder.
Title: Immunohistochemical Expression of Claudin-1 and Claudin-4 in Urothelial Carcinoma of the Urinary Bladder.
Expression of Claudin-4 and D2-40 and their significance in prostatic adenocarcinoma.
Title: Expression of Claudin-4 and D2-40 and their significance in prostatic adenocarcinoma.
Diagnostic Utility of Claudin4 and Comparison with BerEp4 as a Marker for Metastatic Adenocarcinoma in Serous Effusions.
Title: Diagnostic Utility of Claudin4 and Comparison with BerEp4 as a Marker for Metastatic Adenocarcinoma in Serous Effusions.
[Effects of Fusobacterium nucleus derived outer membrane vesicles on claudin-4 expression in oral epithelial cells].
Title: [Effects of Fusobacterium nucleus derived outer membrane vesicles on claudin-4 expression in oral epithelial cells].
CLDN4 as a Novel Diagnostic and Prognostic Biomarker and Its Association with Immune Infiltrates in Ovarian Cancer.
Title: CLDN4 as a Novel Diagnostic and Prognostic Biomarker and Its Association with Immune Infiltrates in Ovarian Cancer.
BAP1 and Claudin-4, But Not MTAP, Reliably Distinguish Borderline and Low-grade Serous Ovarian Tumors From Peritoneal Mesothelioma.
Title: BAP1 and Claudin-4, But Not MTAP, Reliably Distinguish Borderline and Low-grade Serous Ovarian Tumors From Peritoneal Mesothelioma.
Computational study of ion permeation through claudin-4 paracellular channels.
Title: Computational study of ion permeation through claudin-4 paracellular channels.
CLDN4 promotes growth of acute myeloid leukemia cells via regulating AKT and ERK1/2 signaling.
Title: CLDN4 promotes growth of acute myeloid leukemia cells via regulating AKT and ERK1/2 signaling.
TGF-beta induces GBM mesenchymal transition through upregulation of CLDN4 and nuclear translocation to activate TNF-alpha/NF-kappaB signal pathway.
Title: TGF-β induces GBM mesenchymal transition through upregulation of CLDN4 and nuclear translocation to activate TNF-α/NF-κB signal pathway.
Increased integrity of cell-cell junctions accompanied by increased expression of claudin 4 in keratinocytes stimulated with vitamin D3.
Title: Increased integrity of cell-cell junctions accompanied by increased expression of claudin 4 in keratinocytes stimulated with vitamin D3.

Submit: New GeneRIF Correction See all GeneRIFs (145)

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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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
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

L18506 (e-PCR)
- UniSTS:54024

A007I02 (e-PCR)
- UniSTS:20515

D8S2279 (e-PCR)
- UniSTS:473907

G62015 (e-PCR)
- UniSTS:139093

CLDN4_196 (e-PCR)
- UniSTS:277104

D7S3296 (e-PCR)
- UniSTS:254195

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables chloride channel activity	ISS Inferred from Sequence or Structural Similarity more info
enables identical protein binding	ISS Inferred from Sequence or Structural Similarity more info
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 bicellular tight junction assembly	IBA Inferred from Biological aspect of Ancestor more info
involved_in calcium-independent cell-cell adhesion via plasma membrane cell-adhesion molecules	ISS Inferred from Sequence or Structural Similarity more info
involved_in cell adhesion	IBA Inferred from Biological aspect of Ancestor more info
involved_in chloride transmembrane transport	IEA Inferred from Electronic Annotation more info
involved_in circadian rhythm	IEA Inferred from Electronic Annotation more info
involved_in establishment of skin barrier	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in female pregnancy	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of cell migration	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 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 renal absorption	ISS Inferred from Sequence or Structural Similarity more info
involved_in response to progesterone	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in apical plasma membrane	IEA Inferred from Electronic Annotation more info
located_in apicolateral plasma membrane	IEA Inferred from Electronic Annotation more info
located_in basal 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
part_of chloride channel complex	IEA Inferred from Electronic Annotation more info
located_in lateral plasma membrane	IEA Inferred from Electronic Annotation more info
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	IMP Inferred from Mutant Phenotype more info	PubMed
located_in tight junction	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: claudin-4

Names: CPE-receptor; Clostridium perfringens enterotoxin receptor 1; Williams-Beuren syndrome chromosomal region 8 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.