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    CLDN4 claudin 4 [ Homo sapiens (human) ]

    Gene ID: 1364, updated on 9-Dec-2024

    Summary

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

    See CLDN4 in Genome Data Viewer
    Location:
    7q11.23
    Exon count:
    1
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (73830996..73832690)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (75031891..75033585)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (73245326..73247020)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:73152931-73153588 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:73153589-73154245 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr7:73156848-73158047 Neighboring gene abhydrolase domain containing 11 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:73175993-73176570 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:73176571-73177148 Neighboring gene claudin 3 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr7:73213712-73214352 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18267 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr7:73234209-73234787 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr7:73236582-73237781 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:73241685-73242332 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:73242333-73242980 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:73245012-73245714 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:73245715-73246417 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26130 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18268 Neighboring gene methyltransferase like 27 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26131 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18269 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:73270039-73270538 Neighboring gene transmembrane protein 270

    Genomic regions, transcripts, and products

    Bibliography

    GeneRIFs: Gene References Into Functions

    What'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 PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables chloride channel activity IEA
    Inferred from Electronic Annotation
    more info
     
    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
     
    enables transmembrane signaling receptor activity TAS
    Traceable Author Statement
    more info
    PubMed 
    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 ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in cell adhesion IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in chloride transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in circadian rhythm IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in establishment of skin barrier IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in female pregnancy IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in paracellular transport ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of cell migration IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of metallopeptidase activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of wound healing IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of cell morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in renal absorption ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in response to progesterone IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    located_in apical plasma membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in apicolateral plasma membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in basal plasma membrane IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in bicellular tight junction IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in bicellular tight junction IDA
    Inferred from Direct Assay
    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 
    part_of chloride channel complex IEA
    Inferred from Electronic Annotation
    more info
     
    located_in lateral plasma membrane IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in plasma membrane IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    located_in tight junction 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)

    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_012868.1 RefSeqGene

      Range
      5134..6828
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001305.5NP_001296.1  claudin-4

      See identical proteins and their annotated locations for NP_001296.1

      Status: REVIEWED

      Source sequence(s)
      AC093168
      Consensus CDS
      CCDS5560.1
      UniProtKB/Swiss-Prot
      O14493
      UniProtKB/TrEMBL
      B3KX18, Q75L80
      Related
      ENSP00000342445.2, ENST00000340958.4
      Conserved Domains (1) summary
      cl21598
      Location:4170
      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_000007.14 Reference GRCh38.p14 Primary Assembly

      Range
      73830996..73832690
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060931.1 Alternate T2T-CHM13v2.0

      Range
      75031891..75033585
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)