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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
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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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Related articles in PubMed

  1. Claudin-7 down-regulation is an important feature in oral squamous cell carcinoma. Lourenço SV, et al. Histopathology, 2010 Nov. PMID 21083599
  2. Claudin-7 downregulation induces metastasis and invasion in colorectal cancer via the promotion of epithelial-mesenchymal transition. Wang K, et al. Biochem Biophys Res Commun, 2019 Jan 15. PMID 30528239
  3. Downregulation of CLDN7 due to promoter hypermethylation is associated with human clear cell renal cell carcinoma progression and poor prognosis. Li Y, et al. J Exp Clin Cancer Res, 2018 Nov 14. PMID 30428910, Free PMC Article
  4. Claudin 7 as a possible novel molecular target for the treatment of pancreatic cancer. Okui N, et al. Pancreatology, 2019 Jan. PMID 30416041
  5. Overexpression of Claudin-1 is Associated with Advanced Clinical Stage and Invasive Pathologic Characteristics of Oral Squamous Cell Carcinoma. Sappayatosok K, et al. Head Neck Pathol, 2015 Jun. PMID 25078758, Free PMC Article

See all (131) citations in PubMed

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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