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CLDN18 claudin 18 [ Homo sapiens (human) ]

Gene ID: 51208, updated on 11-Apr-2024

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
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Genomic context

See CLDN18 in Genome Data Viewer
Location:
3q22.3
Exon count:
6
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (137998816..138033649)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (140739479..140774309)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (137717658..137752491)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:137490617-137491277 Neighboring gene long intergenic non-protein coding RNA 1210 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:137526407-137526911 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:137526912-137527415 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:137533769-137534270 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:137585401-137586318 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:137587591-137588092 Neighboring gene heat shock protein family A (Hsp70) member 8 pseudogene 9 Neighboring gene VISTA enhancer hs843 Neighboring gene NANOG hESC enhancer GRCh37_chr3:137665042-137665543 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr3:137667351-137668019 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20599 Neighboring gene uncharacterized LOC105374127 Neighboring gene ReSE screen-validated silencer GRCh37_chr3:137740837-137741045 Neighboring gene uncharacterized LOC105374128 Neighboring gene NANOG hESC enhancer GRCh37_chr3:137765865-137766518 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20600 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:137789569-137790070 Neighboring gene DAZ interacting zinc finger protein 1 like Neighboring gene keratin 8 pseudogene 36

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Clone Names

  • DKFZp564B2062

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

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)

  1. NM_001002026.3NP_001002026.1  claudin-18 isoform 2

    See identical proteins and their annotated locations for NP_001002026.1

    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:9191
    PMP22_Claudin; PMP-22/EMP/MP20/Claudin family
  2. NM_016369.4NP_057453.1  claudin-18 isoform 1

    See identical proteins and their annotated locations for NP_057453.1

    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:7191
    PMP22_Claudin; PMP-22/EMP/MP20/Claudin family

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p14 Primary Assembly

    Range
    137998816..138033649
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060927.1 Alternate T2T-CHM13v2.0

    Range
    140739479..140774309
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)