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    CLDN4 claudin 4 [ Homo sapiens (human) ]

    Gene ID: 1364, updated on 12-Aug-2018

    Summary

    Official Symbol
    CLDN4provided by HGNC
    Official Full Name
    claudin 4provided by HGNC
    Primary source
    HGNC:HGNC:2046
    See related
    Ensembl:ENSG00000189143 MIM:602909; Vega:OTTHUMG00000023425
    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

    Genomic context

    See CLDN4 in Genome Data Viewer
    Location:
    7q11.23
    Exon count:
    1
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 7 NC_000007.14 (73830863..73832693)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (73245193..73247015)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene abhydrolase domain containing 11 Neighboring gene claudin 3 Neighboring gene methyltransferase like 27 Neighboring gene transmembrane protein 270

    Genomic regions, transcripts, and products

    Bibliography

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    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 BioSystems

    • Cell adhesion molecules (CAMs), organism-specific biosystem (from KEGG)
      Cell adhesion molecules (CAMs), organism-specific biosystemCell adhesion molecules are (glyco)proteins expressed on the cell surface and play a critical role in a wide array of biologic processes that include hemostasis, the immune response, inflammation, em...
    • Cell adhesion molecules (CAMs), conserved biosystem (from KEGG)
      Cell adhesion molecules (CAMs), conserved biosystemCell adhesion molecules are (glyco)proteins expressed on the cell surface and play a critical role in a wide array of biologic processes that include hemostasis, the immune response, inflammation, em...
    • Cell junction organization, organism-specific biosystem (from REACTOME)
      Cell junction organization, organism-specific biosystem
      Cell junction organization
    • Cell-Cell communication, organism-specific biosystem (from REACTOME)
      Cell-Cell communication, organism-specific biosystemCell-to-Cell communication is crucial for multicellular organisms because it allows organisms to coordinate the activity of their cells. Some cell-to-cell communication requires direct cell-cell cont...
    • Cell-cell junction organization, organism-specific biosystem (from REACTOME)
      Cell-cell junction organization, organism-specific biosystemEpithelial cell-cell contacts consist of three major adhesion systems: adherens junctions (AJs), tight junctions (TJs), and desmosomes. These adhesion systems differ in their function and compositio...
    • Circadian rythm related genes, organism-specific biosystem (from WikiPathways)
      Circadian rythm related genes, organism-specific biosystemThis is currently not a pathway but a list of circadian rhythm related genes and proteins. The source for this information is the gene ontology. The genes and proteins were filtered for "circadian rh...
    • Hepatitis C, organism-specific biosystem (from KEGG)
      Hepatitis C, organism-specific biosystemHepatitis C virus (HCV) is a major cause of chronic liver disease. The HCV employ several strategies to perturb host cell immunity. After invasion, HCV RNA genome functions directly as an mRNA in the...
    • Hepatitis C, conserved biosystem (from KEGG)
      Hepatitis C, conserved biosystemHepatitis C virus (HCV) is a major cause of chronic liver disease. The HCV employ several strategies to perturb host cell immunity. After invasion, HCV RNA genome functions directly as an mRNA in the...
    • Leukocyte transendothelial migration, organism-specific biosystem (from KEGG)
      Leukocyte transendothelial migration, organism-specific biosystemLeukocyte migaration from the blood into tissues is vital for immune surveillance and inflammation. During this diapedesis of leukocytes, the leukocytes bind to endothelial cell adhesion molecules (C...
    • Leukocyte transendothelial migration, conserved biosystem (from KEGG)
      Leukocyte transendothelial migration, conserved biosystemLeukocyte migaration from the blood into tissues is vital for immune surveillance and inflammation. During this diapedesis of leukocytes, the leukocytes bind to endothelial cell adhesion molecules (C...
    • Tight junction, organism-specific biosystem (from KEGG)
      Tight junction, organism-specific biosystemTight junctions (TJs) are essential for establishing a selectively permeable barrier to diffusion through the paracellular space between neighboring cells. TJs are composed of at least three types of...
    • Tight junction, conserved biosystem (from KEGG)
      Tight junction, conserved biosystemTight junctions (TJs) are essential for establishing a selectively permeable barrier to diffusion through the paracellular space between neighboring cells. TJs are composed of at least three types of...
    • Tight junction interactions, organism-specific biosystem (from REACTOME)
      Tight junction interactions, organism-specific biosystemTight junctions (TJs) are the most apical component of the epithelial junctional complex forming a belt-like structure at the cellular junction. When visualized by freeze-fracture electron microscopy...

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    chloride channel activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    identical protein binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    structural molecule activity IEA
    Inferred from Electronic Annotation
    more info
     
    transmembrane signaling receptor activity TAS
    Traceable Author Statement
    more info
    PubMed 
    Process Evidence Code Pubs
    calcium-independent cell-cell adhesion via plasma membrane cell-adhesion molecules ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    chloride transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
     
    circadian rhythm IEA
    Inferred from Electronic Annotation
    more info
     
    establishment of skin barrier IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    female pregnancy IEA
    Inferred from Electronic Annotation
    more info
     
    renal absorption ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    response to progesterone IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    apical plasma membrane IEA
    Inferred from Electronic Annotation
    more info
     
    apicolateral plasma membrane IEA
    Inferred from Electronic Annotation
    more info
     
    basal plasma membrane IEA
    Inferred from Electronic Annotation
    more info
     
    bicellular tight junction IDA
    Inferred from Direct Assay
    more info
    PubMed 
    bicellular tight junction ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    chloride channel complex IEA
    Inferred from Electronic Annotation
    more info
     
    integral component of plasma membrane IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    lateral plasma membrane IEA
    Inferred from Electronic Annotation
    more info
     
    plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    claudin-4
    Names
    CPE-receptor
    Clostridium perfringens enterotoxin receptor 1
    Williams-Beuren syndrome chromosomal region 8 protein

    NCBI Reference Sequences (RefSeq)

    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_012868.1 RefSeqGene

      Range
      5001..6831
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001305.4NP_001296.1  claudin-4

      See identical proteins and their annotated locations for NP_001296.1

      Status: REVIEWED

      Source sequence(s)
      AI560666, AK026651, BC000671, BM768799
      Consensus CDS
      CCDS5560.1
      UniProtKB/Swiss-Prot
      O14493
      UniProtKB/TrEMBL
      Q75L80
      Related
      ENSP00000342445.2, ENST00000340958.3
      Conserved Domains (1) summary
      cl21598
      Location:4170
      PMP22_Claudin; PMP-22/EMP/MP20/Claudin family

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

    Reference GRCh38.p12 Primary Assembly

    Genomic

    1. NC_000007.14 Reference GRCh38.p12 Primary Assembly

      Range
      73830863..73832693
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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