CLDN2 claudin 2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: CLDN2provided by HGNC
Official Full Name: claudin 2provided by HGNC
Primary source: HGNC:HGNC:2041
See related: Ensembl:ENSG00000165376 MIM:300520; AllianceGenome:HGNC:2041
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: OAZON; claudin-2
Summary: This gene product belongs to the claudin protein family whose members have been identified as major integral membrane proteins localized exclusively at tight junctions. Claudins are expressed in an organ-specific manner and regulate tissue-specific physiologic properties of tight junctions. This protein is expressed in the intestine. Alternatively spliced transcript variants with different 5' untranslated region have been found for this gene.[provided by RefSeq, Jan 2010]
Expression: Biased expression in kidney (RPKM 67.4), gall bladder (RPKM 59.4) and 4 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: Xq22.3

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	X	NC_000023.11 (106900164..106930861)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	X	NC_060947.1 (105336674..105367377)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	X	NC_000023.10 (106143394..106174091)

Chromosome X - NC_000023.11 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

Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Plasma-activated medium ameliorates the chemoresistance of human lung adenocarcinoma cells mediated via downregulation of claudin-2 expression.
Title: Plasma-activated medium ameliorates the chemoresistance of human lung adenocarcinoma cells mediated via downregulation of claudin-2 expression.
Claudin-2 in hyperproliferative migrating keratinocytes and migration inhibition via siRNA knockdown.
Title: Claudin-2 in hyperproliferative migrating keratinocytes and migration inhibition via siRNA knockdown.
Downregulation of angulin-1/LSR induces malignancy via upregulation of EGF-dependent claudin-2 and TGF-beta-dependent cell metabolism in human lung adenocarcinoma A549 cells.
Title: Downregulation of angulin-1/LSR induces malignancy via upregulation of EGF-dependent claudin-2 and TGF-β-dependent cell metabolism in human lung adenocarcinoma A549 cells.
Loss of NKCC1 function increases epithelial tight junction permeability by upregulating claudin-2 expression.
Title: Loss of NKCC1 function increases epithelial tight junction permeability by upregulating claudin-2 expression.
Chitinase 3-like 1, Carcinoembryonic Antigen-related Cell Adhesion Molecule 6, and Ectopic Claudin-2 in the Carcinogenic Processes of Ulcerative Colitis.
Title: Chitinase 3-like 1, Carcinoembryonic Antigen-related Cell Adhesion Molecule 6, and Ectopic Claudin-2 in the Carcinogenic Processes of Ulcerative Colitis.
Down-Regulation of Claudin-2 Expression by Cyanidin-3-Glucoside Enhances Sensitivity to Anticancer Drugs in the Spheroid of Human Lung Adenocarcinoma A549 Cells.
Title: Down-Regulation of Claudin-2 Expression by Cyanidin-3-Glucoside Enhances Sensitivity to Anticancer Drugs in the Spheroid of Human Lung Adenocarcinoma A549 Cells.
LncRNA NKILA knockdown promotes cell viability and represses cell apoptosis, autophagy and inflammation in lipopolysaccharide-induced sepsis model by regulating miR-140-5p/CLDN2 axis.
Title: LncRNA NKILA knockdown promotes cell viability and represses cell apoptosis, autophagy and inflammation in lipopolysaccharide-induced sepsis model by regulating miR-140-5p/CLDN2 axis.
Claudin-2 promotes colorectal cancer liver metastasis and is a biomarker of the replacement type growth pattern.
Title: Claudin-2 promotes colorectal cancer liver metastasis and is a biomarker of the replacement type growth pattern.
Elevation of Chemosensitivity of Lung Adenocarcinoma A549 Spheroid Cells by Claudin-2 Knockdown through Activation of Glucose Transport and Inhibition of Nrf2 Signal.
Title: Elevation of Chemosensitivity of Lung Adenocarcinoma A549 Spheroid Cells by Claudin-2 Knockdown through Activation of Glucose Transport and Inhibition of Nrf2 Signal.
HMGB1-downregulated angulin-1/LSR induces epithelial barrier disruption via claudin-2 and cellular metabolism via AMPK in airway epithelial Calu-3 cells.
Title: HMGB1-downregulated angulin-1/LSR induces epithelial barrier disruption via claudin-2 and cellular metabolism via AMPK in airway epithelial Calu-3 cells.

Submit: New GeneRIF Correction See all GeneRIFs (91)

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

Associated conditions

Description	Tests
Azoospermia, obstructive, with nephrolithiasis MedGen: C5542351 OMIM: 301060 GeneReviews: Not available	Compare labs

EBI GWAS Catalog

Description
Common genetic variants in the CLDN2 and PRSS1-PRSS2 loci alter risk for alcohol-related and sporadic pancreatitis. EBI GWAS Catalog EBI GWAS CatalogPubMed

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

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

CLDN2 (e-PCR)
- UniSTS:498200

SGC38161 (e-PCR)
- UniSTS:61234

CLDN2_2269 (e-PCR)
- UniSTS:280505

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables identical protein binding	IDA Inferred from Direct Assay more info	PubMed
enables identical protein binding	ISS Inferred from Sequence or Structural Similarity more info
enables paracellular tight junction channel activity	IDA Inferred from Direct Assay 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

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	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-cell adhesion	ISS Inferred from Sequence or Structural Similarity more info
involved_in innate immune response in mucosa	ISS Inferred from Sequence or Structural Similarity more info
involved_in paracellular transport	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of bile acid secretion	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of intestinal D-glucose absorption	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of intestinal lipid absorption	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
is_active_in bicellular tight junction	IBA Inferred from Biological aspect of Ancestor more info
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
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in tight junction	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: claudin-2

Names: SP82

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.

Genomic

NG_016445.1 RefSeqGene

Range

25239..35698

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001171092.1 → NP_001164563.1 claudin-2

See identical proteins and their annotated locations for NP_001164563.1

Status: REVIEWED

Source sequence(s)

AA973123, AF177340, AK075405

Consensus CDS

CCDS14524.1

UniProtKB/Swiss-Prot

B2R6B9, P57739

Related

ENSP00000441283.1, ENST00000541806.6

Conserved Domains (1) summary

cl21598
Location:23 → 181

PMP22_Claudin; PMP-22/EMP/MP20/Claudin family
NM_001171095.2 → NP_001164566.1 claudin-2

See identical proteins and their annotated locations for NP_001164566.1

Status: REVIEWED

Description

Transcript Variant: This variant (3) uses an alternate 5' non-coding exon compared to variant 1. Variants 1-3 encode the same protein.

Source sequence(s)

AA973123, AK075405, AK312515

Consensus CDS

CCDS14524.1

UniProtKB/Swiss-Prot

B2R6B9, P57739

Related

ENSP00000443230.1, ENST00000540876.1

Conserved Domains (1) summary

cl21598
Location:23 → 181

PMP22_Claudin; PMP-22/EMP/MP20/Claudin family
NM_020384.4 → NP_065117.1 claudin-2

See identical proteins and their annotated locations for NP_065117.1

Status: REVIEWED

Description

Transcript Variant: This variant represents the predominant transcript. Variants 1-3 encode the same protein.

Source sequence(s)

AA973123, AK075405, DA743944

Consensus CDS

CCDS14524.1

UniProtKB/Swiss-Prot

B2R6B9, P57739

Related

ENSP00000336571.1, ENST00000336803.2

Conserved Domains (1) summary

cl21598
Location:23 → 181

PMP22_Claudin; PMP-22/EMP/MP20/Claudin family