Cldn18 claudin 18 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Cldn18provided by MGI
Official Full Name: claudin 18provided by MGI
Primary source: MGI:MGI:1929209
See related: Ensembl:ENSMUSG00000032473 AllianceGenome:MGI:1929209
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
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. This gene is a downstream target gene regulated by the T/EBP/NKX2.1 homeodomain transcription factor. Four alternatively spliced transcript variants resulted from alternative promoters and alternative splicing have been identified, which encode two lung-specific isoforms and two stomach-specific isoforms respectively. This gene is also expressed in colons, inner ear and skin, and its expression is increased in both experimental colitis and ulcerative colitis. [provided by RefSeq, Aug 2010]
Expression: Biased expression in lung adult (RPKM 177.1), stomach adult (RPKM 118.5) and 1 other tissue See more
Orthologs: human all
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Genomic context

Location:: 9 E3.3; 9 52.0 cM

Exon count:: 6

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	9	NC_000075.7 (99572849..99599320, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	9	NC_000075.6 (99690796..99717267, complement)

Chromosome 9 - NC_000075.7 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: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Expression of the membrane tetraspanin claudin 18 on cancer cells promotes T lymphocyte infiltration and antitumor immunity in pancreatic cancer.
Title: Expression of the membrane tetraspanin claudin 18 on cancer cells promotes T lymphocyte infiltration and antitumor immunity in pancreatic cancer.
FAP-targeted CAR-T suppresses MDSCs recruitment to improve the antitumor efficacy of claudin18.2-targeted CAR-T against pancreatic cancer.
Title: FAP-targeted CAR-T suppresses MDSCs recruitment to improve the antitumor efficacy of claudin18.2-targeted CAR-T against pancreatic cancer.
Deficiency of lung-specific claudin-18 leads to aggravated infection with Cryptococcus deneoformans through dysregulation of the microenvironment in lungs.
Title: Deficiency of lung-specific claudin-18 leads to aggravated infection with Cryptococcus deneoformans through dysregulation of the microenvironment in lungs.
Claudin-18 Loss Alters Transcellular Chloride Flux but not Tight Junction Ion Selectivity in Gastric Epithelial Cells.
Title: Claudin-18 Loss Alters Transcellular Chloride Flux but not Tight Junction Ion Selectivity in Gastric Epithelial Cells.
Results found that Cldn18 deficiency induced the development of gastric tumors under chronic active gastritis in the absence of H pylori infection. Age-dependent changes in several signaling networks involving inflammation-, stemness-, and Wnt-related pathways, may accelerate this gastric tumorigenesis in a multi-faceted manner.
Title: Deficiency of Stomach-Type Claudin-18 in Mice Induces Gastric Tumor Formation Independent of H pylori Infection.
expression associated with peripheral lung epithelial cell maturation and plays a key role in the corticosteroid-induced expression of surfactant proteins
Title: Claudin18 associated with corticosteroid-induced expression of surfactant proteins in pulmonary epithelial cells.
claudin family member highly expressed in lung alveolar epithelium, leads to lung enlargement, parenchymal expansion, increased abundance and proliferation of known distal lung progenitors, the alveolar epithelial type II (AT2) cells, activation of Yes-associated protein (YAP), increased organ size, and tumorigenesis in mice
Title: Claudin-18-mediated YAP activity regulates lung stem and progenitor cell homeostasis and tumorigenesis.
Lack of CAIX results in persistent acid backflux via claudin-18 downregulation, causing loss of parietal cells, hypergastrinaemia and foveolar hyperplasia.
Title: Genetic ablation of carbonic anhydrase IX disrupts gastric barrier function via claudin-18 downregulation and acid backflux.
The presented data substantiate the hypothesis that claudin-18 is a central barrier-forming component of tight junctions and show that IL-13 downregulates claudin-18. These data also suggest that the loss of claudin-18 is associated with increased sensitization to aeroantigens and airway responsiveness
Title: Claudin-18 deficiency is associated with airway epithelial barrier dysfunction and asthma.
The claudin-18 knockout mice exhibited decreased P2X7 mRNA transcript abundance as measured by mRNA expression microarray
Title: P2X7R-dependent regulation of glycogen synthase kinase 3β and claudin-18 in alveolar epithelial type I cells of mice lung.

Submit: New GeneRIF Correction See all GeneRIFs (17)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (4)
Targeted (7) 1 citation

General gene information

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Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
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

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 cellular response to estrogen stimulus	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within digestive tract development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in epithelial cell proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in epithelial fluid transport	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in lung alveolus development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within negative regulation of bone resorption	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within negative regulation of osteoclast development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within negative regulation of protein localization to nucleus	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of protein localization to nucleus	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within negative regulation of tumor necrosis factor-mediated signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in organ growth	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of protein localization to nucleus	IDA Inferred from Direct Assay more info	PubMed
involved_in response to ethanol	IEA Inferred from Electronic Annotation more info
involved_in tight junction assembly	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in tight junction organization	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
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 cell-cell junction	IDA Inferred from Direct Assay more info	PubMed
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 tight junction	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: claudin-18

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_001194921.1 → NP_001181850.1 claudin-18 isoform A2.1

See identical proteins and their annotated locations for NP_001181850.1

Status: REVIEWED

Description

Transcript Variant: This variant (A2.1) is the stomach-specific form. It has an alternate 5' exon, as compared to variant A1.1. The resulting isoform (A2.1) is the same size but has a different N-terminus, as compared to isoform A1.1.

Source sequence(s)

AC157949, AF349451, AK033657

Consensus CDS

CCDS57694.1

UniProtKB/TrEMBL

Q8BZS5

Related

ENSMUSP00000108503.3, ENSMUST00000112882.9

Conserved Domains (1) summary

cl21598
Location:9 → 194

PMP22_Claudin; PMP-22/EMP/MP20/Claudin family
NM_001194922.1 → NP_001181851.1 claudin-18 isoform A1.2 precursor

See identical proteins and their annotated locations for NP_001181851.1

Status: REVIEWED

Description

Transcript Variant: This variant (A1.2) is the lung-specific form. It has an additional segment in the CDS, which results in an immediate translation termination, as compared to variant A1.1. The resulting isoform (A1.2) is C-terminal truncated, as compared to isoform A1.1.

Source sequence(s)

AC157949, AF349450, AK033657, BB663682

Consensus CDS

CCDS57692.1

UniProtKB/Swiss-Prot

P56857

UniProtKB/TrEMBL

Q8BZS5

Related

ENSMUSP00000115782.2, ENSMUST00000136429.8

Conserved Domains (1) summary

cl21598
Location:43 → 194

PMP22_Claudin; PMP-22/EMP/MP20/Claudin family
NM_001194923.1 → NP_001181852.1 claudin-18 isoform A2.2

See identical proteins and their annotated locations for NP_001181852.1

Status: REVIEWED

Description

Transcript Variant: This variant (A2.2) is the stomach-specific form. It has an alternate 5' exon, and an additional segment in the CDS, which results in an immediate translation termination, as compared to variant A1.1. The resulting isoform (A2.2) has a different N-terminus and is C-terminal truncated, as compared to isoform A1.1.

Source sequence(s)

AA028634, AC157949, AF349453

Consensus CDS

CCDS57693.1

UniProtKB/Swiss-Prot

P56857

Related

ENSMUSP00000117382.2, ENSMUST00000131922.2

Conserved Domains (1) summary

cl21598
Location:9 → 194

PMP22_Claudin; PMP-22/EMP/MP20/Claudin family
NM_019815.3 → NP_062789.1 claudin-18 isoform A1.1 precursor

See identical proteins and their annotated locations for NP_062789.1

Status: REVIEWED

Description

Transcript Variant: This variant (A1.1) is the lung-specific form. It encodes the longer isoform (A1.1).

Source sequence(s)

AC157949, AF221068, BB663682, BX528145, CF805431

Consensus CDS

CCDS23437.1

UniProtKB/Swiss-Prot

P56857, Q91ZY9, Q91ZZ0, Q91ZZ1

UniProtKB/TrEMBL

Q8BZS5

Related

ENSMUSP00000035048.6, ENSMUST00000035048.12

Conserved Domains (1) summary

cl21598
Location:43 → 194

PMP22_Claudin; PMP-22/EMP/MP20/Claudin family