CLDN18 claudin 18 [Homo sapiens (human)] - Gene

Summary

Official Symbol: CLDN18provided by HGNC
Official Full Name: claudin 18provided by HGNC
Primary source: HGNC:HGNC:2039
See related: Ensembl:ENSG00000066405 MIM:609210; AllianceGenome:HGNC:2039
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: SFTA5; SFTPJ
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 upregulated in patients with ulcerative colitis and highly overexpressed in infiltrating ductal adenocarcinomas. PKC/MAPK/AP-1 (protein kinase C/mitogen-activated protein kinase/activator protein-1) dependent pathway regulates the expression of this gene in gastric cells. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jun 2010]
Expression: Biased expression in stomach (RPKM 335.4) and lung (RPKM 153.8) See more
Orthologs: mouse all
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Genomic context

Location:: 3q22.3

Exon count:: 6

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	3	NC_000003.12 (137998816..138033649)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	3	NC_060927.1 (140739479..140774309)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	3	NC_000003.11 (137717658..137752491)

Chromosome 3 - NC_000003.12 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: 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?

Heterogeneity of claudin 18.2 expression in metastatic gastric cancer.
Title: Heterogeneity of claudin 18.2 expression in metastatic gastric cancer.
The impact of CLDN18.2 expression on effector cells mediating antibody-dependent cellular cytotoxicity in gastric cancer.
Title: The impact of CLDN18.2 expression on effector cells mediating antibody-dependent cellular cytotoxicity in gastric cancer.
Claudin-18 status and its correlation with HER2 and PD-L1 expression in gastric cancer with peritoneal dissemination.
Title: Claudin-18 status and its correlation with HER2 and PD-L1 expression in gastric cancer with peritoneal dissemination.
Molecular SPECT/CT Profiling of Claudin18.2 Expression In Vivo: Implication for Patients with Gastric Cancer.
Title: Molecular SPECT/CT Profiling of Claudin18.2 Expression In Vivo: Implication for Patients with Gastric Cancer.
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.
Claudin 18.2 expression in digestive neuroendocrine neoplasms: a clinicopathological study.
Title: Claudin 18.2 expression in digestive neuroendocrine neoplasms: a clinicopathological study.
Correlation of Claudin18.2 expression with clinicopathological characteristics and prognosis in gastric cancer.
Title: Correlation of Claudin18.2 expression with clinicopathological characteristics and prognosis in gastric cancer.
Claudin18.2 expression and clinicopathological features in cytology effusion specimens from gastric adenocarcinoma: A comparative study with tissue specimens.
Title: Claudin18.2 expression and clinicopathological features in cytology effusion specimens from gastric adenocarcinoma: A comparative study with tissue specimens.
Claudin-18.
Title: Claudin-18.
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.

Submit: New GeneRIF Correction See all GeneRIFs (54)

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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

CLDN18_8037 (e-PCR)
- UniSTS:467609

RH18207 (e-PCR)
- UniSTS:2978

Gene Ontology Provided by GOA

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	ISS Inferred from Sequence or Structural Similarity more info
involved_in digestive tract development	IEA Inferred from Electronic Annotation more info
involved_in epithelial cell proliferation	ISS Inferred from Sequence or Structural Similarity more info
involved_in epithelial fluid transport	ISS Inferred from Sequence or Structural Similarity more info
involved_in lung alveolus development	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of bone resorption	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of osteoclast development	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of protein localization to nucleus	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of tumor necrosis factor-mediated signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in organ growth	ISS Inferred from Sequence or Structural Similarity more info
involved_in protein localization to nucleus	IEA Inferred from Electronic Annotation more info
involved_in response to ethanol	IEA Inferred from Electronic Annotation more info
involved_in tight junction organization	ISS Inferred from Sequence or Structural Similarity more info

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	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	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: claudin-18

Names: surfactant associated 5; surfactant associated protein J; surfactant, pulmonary associated protein J

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_001002026.3 → NP_001002026.1 claudin-18 isoform 2

Status: VALIDATED

Description

Transcript Variant: This variant (2) has an alternate 5' exon, as compared to variant 1. It encodes isoform 2, also known as isoform A2, which is of the same size but has a different N-terminus, as compared to isoform 1.

Source sequence(s)

AK098474, AY102073, BM785703

Consensus CDS

CCDS33862.1

UniProtKB/TrEMBL

B4DNX6

Related

ENSP00000340939.4, ENST00000343735.8

Conserved Domains (1) summary

cl21598
Location:9 → 191

PMP22_Claudin; PMP-22/EMP/MP20/Claudin family
NM_016369.4 → NP_057453.1 claudin-18 isoform 1

Status: VALIDATED

Description

Transcript Variant: This variant (1) encodes isoform 1, also known as isoform A1.

Source sequence(s)

AK098474, AY102073, AY358479, BM785703

Consensus CDS

CCDS3095.1

UniProtKB/Swiss-Prot

A5PL21, P56856, Q96PH4

UniProtKB/TrEMBL

B4DNX6

Related

ENSP00000183605.5, ENST00000183605.10

Conserved Domains (1) summary

cl21598
Location:7 → 191

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