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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
    mouse all
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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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    Related articles in PubMed

    1. Inhibition of Autophagic Degradation Process Contributes to Claudin-2 Expression Increase and Epithelial Tight Junction Dysfunction in TNF-α Treated Cell Monolayers. Zhang C, et al. Int J Mol Sci, 2017 Jan 17. PMID 28106723, Free PMC Article
    2. Identification of a missense variant in CLDN2 in obstructive azoospermia. Askari M, et al. J Hum Genet, 2019 Oct. PMID 31320686
    3. Ectopic expression of CLDN2 in podocytes is associated with childhood onset nephrotic syndrome. Kanno S, et al. Pediatr Res, 2019 Oct. PMID 31086291
    4. Bovine colostrum increases pore-forming claudin-2 protein expression but paradoxically not ion permeability possibly by a change of the intestinal cytokine milieu. Bodammer P, et al. PLoS One, 2013. PMID 23717570, Free PMC Article
    5. Elevation of sensitivity to anticancer agents of human lung adenocarcinoma A549 cells by knockdown of claudin-2 expression in monolayer and spheroid culture models. Maruhashi R, et al. Biochim Biophys Acta Mol Cell Res, 2018 Mar. PMID 29247669

    See all (124) citations in PubMed

    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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    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

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    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

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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