CLDN7 claudin 7 [Homo sapiens (human)] - Gene

Summary

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

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_000017.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
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.
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.
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.
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.
The p53-inducible CLDN7 regulates colorectal tumorigenesis and has prognostic significance.
Title: The p53-inducible CLDN7 regulates colorectal tumorigenesis and has prognostic significance.
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.
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

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH47392 (e-PCR)
- UniSTS:8460

D17S2159 (e-PCR)
- UniSTS:8461

WIAF-2127 (e-PCR)
- UniSTS:3692

G54057 (e-PCR)
- UniSTS:109439

RH12882 (e-PCR)
- UniSTS:56988

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)

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
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
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