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    CLDN2 claudin 2 [ Homo sapiens (human) ]

    Gene ID: 9075, updated on 19-Sep-2021

    Summary

    Official Symbol
    CLDN2provided by HGNC
    Official Full Name
    claudin 2provided by HGNC
    Primary source
    HGNC:HGNC:2041
    See related
    Ensembl:ENSG00000165376 MIM:300520
    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
    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
    NEW
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    Try the new Transcript table

    Genomic context

    See CLDN2 in Genome Data Viewer
    Location:
    Xq22.3
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) X NC_000023.11 (106900164..106930861)
    105.20201022 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 TBC1 domain family member 8B Neighboring gene ripply transcriptional repressor 1 Neighboring gene MORC family CW-type zinc finger 4 Neighboring gene eukaryotic translation elongation factor 1 alpha 1 pseudogene 40

    Genomic regions, transcripts, and products

    Expression

    • Project title: 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Azoospermia, obstructive, with nephrolithiasis
    MedGen: CN295913 OMIM: 301060 GeneReviews: Not available
    not available
    Common genetic variants in the CLDN2 and PRSS1-PRSS2 loci alter risk for alcohol-related and sporadic pancreatitis.
    GeneReviews: Not available

    HIV-1 interactions

    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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    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
     
    Process Evidence Code Pubs
    involved_in bicellular tight junction assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in calcium-independent cell-cell adhesion via plasma membrane cell-adhesion molecules IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    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
    PubMed 
    Component Evidence Code Pubs
    is_active_in bicellular tight junction IBA
    Inferred from Biological aspect of Ancestor
    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 integral component of membrane IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_001171092.1NP_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
      P57739
      Related
      ENSP00000441283.1, ENST00000541806.6
      Conserved Domains (1) summary
      cl21598
      Location:23181
      PMP22_Claudin; PMP-22/EMP/MP20/Claudin family
    2. NM_001171095.2NP_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
      P57739
      Related
      ENSP00000443230.1, ENST00000540876.1
      Conserved Domains (1) summary
      cl21598
      Location:23181
      PMP22_Claudin; PMP-22/EMP/MP20/Claudin family
    3. NM_020384.4NP_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
      P57739
      Related
      ENSP00000336571.1, ENST00000336803.2
      Conserved Domains (1) summary
      cl21598
      Location:23181
      PMP22_Claudin; PMP-22/EMP/MP20/Claudin family

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000023.11 Reference GRCh38.p13 Primary Assembly

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