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    CLDN7 claudin 7 [ Homo sapiens (human) ]

    Gene ID: 1366, updated on 2-Nov-2024

    Summary

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    Official Symbol
    CLDN7provided by HGNC
    Official Full Name
    claudin 7provided by HGNC
    Primary source
    HGNC:HGNC:2049
    See related
    Ensembl:ENSG00000181885 MIM:609131; AllianceGenome:HGNC:2049
    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
    CLDN-7; CEPTRL2; CPETRL2; Hs.84359; claudin-1
    Summary
    This gene encodes a member of the claudin family. Claudins are integral membrane proteins and components of tight junction strands. Tight junction strands serve as a physical barrier to prevent solutes and water from passing freely through the paracellular space between epithelial or endothelial cell sheets, and also play critical roles in maintaining cell polarity and signal transductions. Differential expression of this gene has been observed in different types of malignancies, including breast cancer, ovarian cancer, hepatocellular carcinomas, urinary tumors, prostate cancer, lung cancer, head and neck cancers, thyroid carcinomas, etc.. Alternatively spliced transcript variants encoding different isoforms have been found.[provided by RefSeq, May 2010]
    Expression
    Biased expression in colon (RPKM 107.5), small intestine (RPKM 93.5) and 12 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See CLDN7 in Genome Data Viewer
    Location:
    17p13.1
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (7259903..7263213, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (7160826..7164136, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (7163222..7166532, complement)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene PHD finger protein 23 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:7144925-7145476 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:7145477-7146028 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8094 Neighboring gene GABA type A receptor-associated protein Neighboring gene CTD nuclear envelope phosphatase 1 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:7154656-7155243 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:7155244-7155832 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8097 Neighboring gene elongator acetyltransferase complex subunit 5 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11607 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8098 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:7164637-7165600 Neighboring gene Sharpr-MPRA regulatory region 7888 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8100 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:7185283-7186270 Neighboring gene solute carrier family 2 member 4 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:7197310-7197485 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8101 Neighboring gene Y-box binding protein 2

    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. Hypoxia-inducible microRNA-155 negatively regulates epithelial barrier in eosinophilic esophagitis by suppressing tight junction claudin-7.
      Title: Hypoxia-inducible microRNA-155 negatively regulates epithelial barrier in eosinophilic esophagitis by suppressing tight junction claudin-7.
    2. Matrix metalloproteinase 7 contributes to intestinal barrier dysfunction by degrading tight junction protein Claudin-7.
      Title: Matrix metalloproteinase 7 contributes to intestinal barrier dysfunction by degrading tight junction protein Claudin-7.
    3. Claudin-7 in keratinocytes is downregulated by the inhibition of HMG-CoA reductase and is highly expressed in the stratum granulosum of the psoriatic epidermis.
      Title: Claudin-7 in keratinocytes is downregulated by the inhibition of HMG-CoA reductase and is highly expressed in the stratum granulosum of the psoriatic epidermis.
    4. N-glycosylation status of Trop2 impacts its surface density, interaction with claudin-7 and exosomal release.
      Title: N-glycosylation status of Trop2 impacts its surface density, interaction with claudin-7 and exosomal release.
    5. A Claudin-Based Molecular Signature Identifies High-Risk, Chemoresistant Colorectal Cancer Patients.
      Title: A Claudin-Based Molecular Signature Identifies High-Risk, Chemoresistant Colorectal Cancer Patients.
    6. Claudin-7 deficiency promotes stemness properties in colorectal cancer through Sox9-mediated Wnt/beta-catenin signalling.
      Title: Claudin-7 deficiency promotes stemness properties in colorectal cancer through Sox9-mediated Wnt/β-catenin signalling.
    7. Reduced occludin and claudin-7 expression is associated with urban locations and exposure to second-hand smoke in allergic rhinitis patients.
      Title: Reduced occludin and claudin-7 expression is associated with urban locations and exposure to second-hand smoke in allergic rhinitis patients.
    8. The p53-inducible CLDN7 regulates colorectal tumorigenesis and has prognostic significance.
      Title: The p53-inducible CLDN7 regulates colorectal tumorigenesis and has prognostic significance.
    9. Claudin-7 Inhibits Proliferation and Metastasis in Salivary Adenoid Cystic Carcinoma Through Wnt/beta-Catenin Signaling.
      Title: Claudin-7 Inhibits Proliferation and Metastasis in Salivary Adenoid Cystic Carcinoma Through Wnt/β-Catenin Signaling.
    10. Titanium dioxide particles modulate epithelial barrier protein, Claudin 7 in asthma.
      Title: Titanium dioxide particles modulate epithelial barrier protein, Claudin 7 in asthma.
    Submit: New GeneRIF Correction See all GeneRIFs (97)

    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

    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 HIV-1 virions expressing claudin-7 on their envelopes show a much higher infectivity for 293T CD4(-) cells than parental HIV-1 with no CLDN-7, suggesting an interaction with gp160 or gp120 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 cell adhesion molecule binding 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 protein domain specific binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    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 ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in cell adhesion IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in negative regulation of apoptotic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in negative regulation of cell adhesion IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in negative regulation of protein-containing complex assembly IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of cell motility IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of cell population proliferation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in response to ethanol IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in apicolateral plasma membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in basolateral 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 ISS
    Inferred from Sequence or Structural Similarity
    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 

    General protein information

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    Preferred Names
    claudin-7
    Names
    clostridium perfringens enterotoxin receptor-like 2
    epididymis secretory sperm binding protein

    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.

    mRNA and Protein(s)

    1. NM_001185022.2 → NP_001171951.1  claudin-7 isoform 1

      See identical proteins and their annotated locations for NP_001171951.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) has an alternate 5' UTR sequence, as compared to variant 1. Variants 1 and 2 encode the same isoform (1).
      Source sequence(s)
      AC003688, AJ011497, BC071844
      Consensus CDS
      CCDS11096.1
      UniProtKB/Swiss-Prot
      B2R9X7, D3DTP0, O95471, Q6IPN3, Q7Z4Y7, Q9BVN0
      UniProtKB/TrEMBL
      A0A384ME58, I3L3X1
      Related
      ENSP00000396638.3, ENST00000397317.8
      Conserved Domains (1) summary
      pfam00822
      Location:4 → 182
      PMP22_Claudin; PMP-22/EMP/MP20/Claudin family

    2. NM_001185023.2 → NP_001171952.1  claudin-7 isoform 2

      See identical proteins and their annotated locations for NP_001171952.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks an exon in the 3' CDS, as compared to variant 1. The resulting isoform (2) has a shorter and distinct C-terminus, as compared to isoform 1.
      Source sequence(s)
      AC003688, BC071844, CV575841
      Consensus CDS
      CCDS54081.1
      UniProtKB/TrEMBL
      F5H496, K7EP40
      Related
      ENSP00000445131.2, ENST00000538261.7
      Conserved Domains (1) summary
      cl21598
      Location:4 → 132
      PMP22_Claudin; PMP-22/EMP/MP20/Claudin family

    3. NM_001307.6 → NP_001298.3  claudin-7 isoform 1

      See identical proteins and their annotated locations for NP_001298.3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1).
      Source sequence(s)
      AC003688, BC071844, CV575841
      Consensus CDS
      CCDS11096.1
      UniProtKB/Swiss-Prot
      B2R9X7, D3DTP0, O95471, Q6IPN3, Q7Z4Y7, Q9BVN0
      UniProtKB/TrEMBL
      A0A384ME58, I3L3X1
      Related
      ENSP00000353475.7, ENST00000360325.11
      Conserved Domains (1) summary
      pfam00822
      Location:4 → 182
      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_000017.11 Reference GRCh38.p14 Primary Assembly

      Range
      7259903..7263213 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 PATCHES

    Genomic

    1. NW_021160020.1 Reference GRCh38.p14 PATCHES

      Range
      15231..18541 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      7160826..7164136 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O95471.4 GenPept UniProtKB/Swiss-Prot:O95471

    Gene LinkOut

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

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