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CLDN2 claudin 2 [ Homo sapiens (human) ]

Gene ID: 9075, updated on 2-Nov-2024

Summary

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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
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Genomic context

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See CLDN2 in Genome Data Viewer
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_000023.11Genomic Context describing neighboring genes Neighboring gene ring finger protein 128 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chrX:105969778-105970366 Neighboring gene TBC1 domain family member 8B Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29830 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:106137885-106138409 Neighboring gene ripply transcriptional repressor 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:106176295-106176796 Neighboring gene Sharpr-MPRA regulatory region 10711 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:106209370-106209870 Neighboring gene MORC family CW-type zinc finger 4 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20925 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20926 Neighboring gene NANOG hESC enhancer GRCh37_chrX:106261730-106262231 Neighboring gene eukaryotic translation elongation factor 1 alpha 1 pseudogene 40

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. 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.
  2. 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.
  3. 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.
  4. 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.
  5. 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.
  6. 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.
  7. 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.
  8. 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.
  9. 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.
  10. 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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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
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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

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

Pathways from PubChem

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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

Homology

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

  1. NG_016445.1 RefSeqGene

    Range
    25239..35698
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. 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

  2. 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

  3. 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

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000023.11 Reference GRCh38.p14 Primary Assembly

    Range
    106900164..106930861
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060947.1 Alternate T2T-CHM13v2.0

    Range
    105336674..105367377
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054328085.1 → XP_054184060.1  claudin-2 isoform X1

    UniProtKB/Swiss-Prot
    B2R6B9, P57739

  2. XM_054328084.1 → XP_054184059.1  claudin-2 isoform X1

    UniProtKB/Swiss-Prot
    B2R6B9, P57739
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P57739.1 GenPept UniProtKB/Swiss-Prot:P57739

Gene LinkOut

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