CLDN7 Gene (Protein Coding)

Claudin 7

GC17M007259
GIFtS:
41
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 t... See more...

Aliases for CLDN7 Gene

Aliases for CLDN7 Gene

  • Claudin 7 2 3 5
  • Claudin-7 3 4
  • Hs.84359 2 3
  • CEPTRL2 3 4
  • CPETRL2 3 4
  • CLDN-7 3 4
  • Clostridium Perfringens Enterotoxin Receptor-Like 2 3
  • Epididymis Secretory Sperm Binding Protein 3
  • Claudin-1 3
  • CLDN7 5

External Ids for CLDN7 Gene

Previous HGNC Symbols for CLDN7 Gene

  • CEPTRL2
  • CPETRL2

Previous GeneCards Identifiers for CLDN7 Gene

  • GC17M007585
  • GC17M007893
  • GC17M007106
  • GC17M007364
  • GC17M007104
  • GC17M007103
  • GC17M007163
  • GC17M007054

Summaries for CLDN7 Gene

Entrez Gene Summary for CLDN7 Gene

  • 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]

GeneCards Summary for CLDN7 Gene

CLDN7 (Claudin 7) is a Protein Coding gene. Diseases associated with CLDN7 include Ductal Carcinoma In Situ and Oncocytoma. Among its related pathways are Blood-Brain Barrier and Immune Cell Transmigration: VCAM-1/CD106 Signaling and Pathogenic Escherichia coli infection. Gene Ontology (GO) annotations related to this gene include identical protein binding and structural molecule activity. An important paralog of this gene is CLDN1.

UniProtKB/Swiss-Prot Summary for CLDN7 Gene

  • Plays a major role in tight junction-specific obliteration of the intercellular space.

Gene Wiki entry for CLDN7 Gene

Additional gene information for CLDN7 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CLDN7 Gene

Genomics for CLDN7 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for CLDN7 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CLDN7 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CLDN7

Top Transcription factor binding sites by QIAGEN in the CLDN7 gene promoter:
  • aMEF-2
  • MEF-2A
  • PPAR-gamma1
  • PPAR-gamma2

Genomic Locations for CLDN7 Gene

Genomic Locations for CLDN7 Gene
chr17:7,259,903-7,263,983
(GRCh38/hg38)
Size:
4,081 bases
Orientation:
Minus strand
chr17:7,163,222-7,167,302
(GRCh37/hg19)
Size:
4,081 bases
Orientation:
Minus strand

Genomic View for CLDN7 Gene

Genes around CLDN7 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CLDN7 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CLDN7 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for CLDN7 Gene

Proteins for CLDN7 Gene

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  • Protein details for CLDN7 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O95471-CLD7_HUMAN
    Recommended name:
    Claudin-7
    Protein Accession:
    O95471
    Secondary Accessions:
    • B2R9X7
    • D3DTP0
    • Q6IPN3
    • Q7Z4Y7
    • Q9BVN0

    Protein attributes for CLDN7 Gene

    Size:
    211 amino acids
    Molecular mass:
    22418 Da
    Quaternary structure:
    • Directly interacts with TJP1/ZO-1, TJP2/ZO-2 and TJP3/ZO-3 (By similarity). The phosphorylated form interacts with EPCAM (PubMed:16054130). Does not interact with CD81 (PubMed:20375010).
    SequenceCaution:
    • Sequence=AAP97219.1; Type=Frameshift; Evidence={ECO:0000305};

    Alternative splice isoforms for CLDN7 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CLDN7 Gene

Protein Expression for CLDN7 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for CLDN7 Gene

Other Protein References for CLDN7 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for CLDN7 Gene

Domains & Families for CLDN7 Gene

Gene Families for CLDN7 Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Predicted intracellular proteins
  • Predicted membrane proteins
  • Transporters

Protein Domains for CLDN7 Gene

InterPro:
Blocks:
  • Claudin family signature
  • Claudin-7 signature
ProtoNet:

Suggested Antigen Peptide Sequences for CLDN7 Gene

GenScript: Design optimal peptide antigens:
  • Claudin-7 (CLD7_HUMAN)

Graphical View of Domain Structure for InterPro Entry

O95471

UniProtKB/Swiss-Prot:

CLD7_HUMAN :
  • Belongs to the claudin family.
Family:
  • Belongs to the claudin family.
genes like me logo Genes that share domains with CLDN7: view

Function for CLDN7 Gene

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Molecular function for CLDN7 Gene

UniProtKB/Swiss-Prot Function:
Plays a major role in tight junction-specific obliteration of the intercellular space.
UniProtKB/Swiss-Prot Induction:
By androgens.
GENATLAS Biochemistry:
claudin 7,clostridium perfringens enterotoxin receptor-like 2,integral membrane protein,claudin family of major structural components of tight junction (TJ) strands,primarly expressed in lung and kidney

Phenotypes From GWAS Catalog for CLDN7 Gene

Gene Ontology (GO) - Molecular Function for CLDN7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005198 structural molecule activity IEA --
GO:0005515 protein binding IPI 16054130
GO:0019904 protein domain specific binding IEA --
GO:0042802 identical protein binding ISS --
GO:0050839 cell adhesion molecule binding IEA --
genes like me logo Genes that share ontologies with CLDN7: view
genes like me logo Genes that share phenotypes with CLDN7: view

Animal Models for CLDN7 Gene

MGI Knock Outs for CLDN7:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

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Clone Products

  • Addgene plasmids for CLDN7

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for CLDN7 Gene

Localization for CLDN7 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CLDN7 Gene

Cell membrane. Multi-pass membrane protein. Basolateral cell membrane. Cell junction, tight junction. Note=Co-localizes with EPCAM at the basolateral cell membrane and tight junction. {ECO:0000269 PubMed:16054130}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CLDN7 gene
Compartment Confidence
plasma membrane 5
extracellular 2
cytoskeleton 2
nucleus 2
cytosol 2
mitochondrion 1
endoplasmic reticulum 1
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cell Junctions (3)
  • Vesicles (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for CLDN7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane IEA,IDA 20375010
GO:0005923 bicellular tight junction IEA,ISS --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0016323 basolateral plasma membrane IEA --
genes like me logo Genes that share ontologies with CLDN7: view

Pathways & Interactions for CLDN7 Gene

genes like me logo Genes that share pathways with CLDN7: view

SIGNOR curated interactions for CLDN7 Gene

Is inactivated by:

Gene Ontology (GO) - Biological Process for CLDN7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007155 cell adhesion IBA 21873635
GO:0007162 negative regulation of cell adhesion IEA --
GO:0008284 positive regulation of cell proliferation IEA --
GO:0016338 calcium-independent cell-cell adhesion via plasma membrane cell-adhesion molecules ISS --
GO:0031333 negative regulation of protein complex assembly IEA --
genes like me logo Genes that share ontologies with CLDN7: view

Drugs & Compounds for CLDN7 Gene

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(1) Additional Compounds for CLDN7 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with CLDN7: view

Transcripts for CLDN7 Gene

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mRNA/cDNA for CLDN7 Gene

3 REFSEQ mRNAs :
10 NCBI additional mRNA sequence :
8 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CLDN7

Clone Products

  • Addgene plasmids for CLDN7

Alternative Splicing Database (ASD) splice patterns (SP) for CLDN7 Gene

ExUns: 1a · 1b · 1c ^ 2a · 2b · 2c · 2d ^ 3a · 3b ^ 4a · 4b · 4c ^ 5
SP1: - - -
SP2: -
SP3: - -
SP4: -
SP5:

Relevant External Links for CLDN7 Gene

GeneLoc Exon Structure for
CLDN7

Expression for CLDN7 Gene

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mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for CLDN7 Gene

mRNA expression in normal human tissues for CLDN7 Gene
mRNA expression by BioGPS for CLDN7 GenemRNA expression by GTEx for CLDN7 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for CLDN7 Gene

This gene is overexpressed in Colon - Transverse (x13.2), Esophagus - Mucosa (x8.7), Small Intestine - Terminal Ileum (x5.1), and Minor Salivary Gland (x4.9).

Protein differential expression in normal tissues from HIPED for CLDN7 Gene

This gene is overexpressed in Oral epithelium (14.8), Salivary gland (11.2), Stomach (7.1), Islet of Langerhans (6.4), and Tonsil (6.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for CLDN7 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CLDN7

SOURCE GeneReport for Unigene cluster for CLDN7 Gene:

Hs.513915

mRNA Expression by UniProt/SwissProt for CLDN7 Gene:

O95471-CLD7_HUMAN
Tissue specificity: Expressed in kidney, lung and prostate. Isoform 1 seems to be predominant, except in some normal prostate samples, where isoform 2 is the major form. Down-regulated in breast cancers, including ductal carcinoma in situ (DCIS), lobular carcinoma in situ (LCIS) and invasive ductal carcinoma (IDC) (at protein level), as well as in several cancer cell lines. Loss of expression correlates with histological grade, occurring predominantly in high-grade lesions.

Evidence on tissue expression from TISSUES for CLDN7 Gene

  • Intestine(4.8)
  • Lung(3.1)
  • Kidney(2.9)
  • Liver(2.7)
  • Thyroid gland(2.5)
  • Pancreas(2.4)
  • Stomach(2.4)
  • Gall bladder(2.3)
genes like me logo Genes that share expression patterns with CLDN7: view

No data available for Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for CLDN7 Gene

Orthologs for CLDN7 Gene

This gene was present in the common ancestor of chordates.

Orthologs for CLDN7 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
 Mammalia CLDN7 30 31
  • 99.53 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia CLDN7 30 31
  • 89.89 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia CLDN7 30 31
  • 89.57 (n)
 OneToOne
Mouse
(Mus musculus)
 Mammalia Cldn7 30 17 31
  • 87.84 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Cldn7 30
  • 86.89 (n)
Oppossum
(Monodelphis domestica)
 Mammalia CLDN7 31
  • 86 (a)
 OneToOne
Zebrafish
(Danio rerio)
 Actinopterygii cldn7b 30 31
  • 58.93 (n)
 OneToMany
cldn7a 31
  • 56 (a)
 OneToMany
Species where no ortholog for CLDN7 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Lizard (Anolis carolinensis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Platypus (Ornithorhynchus anatinus)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for CLDN7 Gene

ENSEMBL:
Gene Tree for CLDN7 (if available)
TreeFam:
Gene Tree for CLDN7 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for CLDN7: view image

Paralogs for CLDN7 Gene

Paralogs for CLDN7 Gene

(19) SIMAP similar genes for CLDN7 Gene using alignment to 6 proteins:

  • CLD7_HUMAN
  • F5H496_HUMAN
  • I3L3L6_HUMAN
  • I3L3X1_HUMAN
  • K7EL87_HUMAN
  • K7EP40_HUMAN

Pseudogenes.org Pseudogenes for CLDN7 Gene

genes like me logo Genes that share paralogs with CLDN7: view

Variants for CLDN7 Gene

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Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CLDN7 Gene

SNP ID Clinical significance and condition Chr 17 pos Variation AA Info Type
709182 Likely Benign: not provided 7,260,912(-) C/T SYNONYMOUS_VARIANT
rs17849410 - p.Ala133Thr
rs4562 - p.Val197Ala

Additional dbSNP identifiers (rs#s) for CLDN7 Gene

Structural Variations from Database of Genomic Variants (DGV) for CLDN7 Gene

Variant ID Type Subtype PubMed ID
dgv885e212 CNV loss 25503493
esv2422288 CNV deletion 17116639
esv2665200 CNV deletion 23128226
esv3639861 CNV loss 21293372
nsv1963 CNV deletion 18451855
nsv457659 CNV loss 19166990
nsv480494 CNV novel sequence insertion 20440878
nsv574322 CNV loss 21841781
nsv952118 CNV deletion 24416366

Variation tolerance for CLDN7 Gene

Residual Variation Intolerance Score: 70.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.05; 21.55% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CLDN7 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
CLDN7

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CLDN7 Gene

Disorders for CLDN7 Gene

MalaCards: The human disease database

(18) MalaCards diseases for CLDN7 Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
ductal carcinoma in situ
  • noninfiltrating intraductal carcinoma
oncocytoma
  • oxyphilic adenoma
prostate transitional cell carcinoma
  • transitional cell carcinoma of prostate
renal oncocytoma
  • oncocytoma of kidney
pancreatoblastoma
- elite association - COSMIC cancer census association via MalaCards
Search CLDN7 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for CLDN7

ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with CLDN7: view

No data available for UniProtKB/Swiss-Prot and Genatlas for CLDN7 Gene

Publications for CLDN7 Gene

  1. The cell-cell adhesion molecule EpCAM interacts directly with the tight junction protein claudin-7. (PMID: 16054130) Ladwein M … Zöller M (Experimental cell research 2005) 3 4 23
  2. Loss of the tight junction protein claudin-7 correlates with histological grade in both ductal carcinoma in situ and invasive ductal carcinoma of the breast. (PMID: 12673207) Kominsky SL … Sukumar S (Oncogene 2003) 3 4 23
  3. Regulation of the expression of the prostate-specific antigen by claudin-7. (PMID: 14502431) Zheng JY … Pang S (The Journal of membrane biology 2003) 3 4 23
  4. Claudin association with CD81 defines hepatitis C virus entry. (PMID: 20375010) Harris HJ … McKeating JA (The Journal of biological chemistry 2010) 3 4
  5. Distribution and expression pattern of claudins 6, 7, and 9 in diffuse- and intestinal-type gastric adenocarcinomas. (PMID: 19960275) Rendón-Huerta E … Montaño LF (Journal of gastrointestinal cancer 2010) 3 23

ExternalLinks

View latest publications for CLDN7 gene in Mastermind

Products for CLDN7 Gene

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Sources for CLDN7 Gene