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CLDN18 claudin 18 [ Homo sapiens (human) ]

Gene ID: 51208, updated on 24-Nov-2020

Summary

Official Symbol
CLDN18provided by HGNC
Official Full Name
claudin 18provided by HGNC
Primary source
HGNC:HGNC:2039
See related
Ensembl:ENSG00000066405 MIM:609210
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

Genomic context

See CLDN18 in Genome Data Viewer
Location:
3q22.3
Exon count:
6
Annotation release Status Assembly Chr Location
109.20201120 current GRCh38.p13 (GCF_000001405.39) 3 NC_000003.12 (137998816..138033649)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (137717658..137752494)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene heat shock protein family A (Hsp70) member 8 pseudogene 9 Neighboring gene VISTA enhancer hs843 Neighboring gene uncharacterized LOC105374127 Neighboring gene uncharacterized LOC105374128 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?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • DKFZp564B2062

Gene Ontology Provided by GOA

Function Evidence Code Pubs
identical protein binding ISS
Inferred from Sequence or Structural Similarity
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
structural molecule activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
TNFSF11-mediated signaling pathway IEA
Inferred from Electronic Annotation
more info
 
bicellular tight junction assembly IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
calcium-independent cell-cell adhesion via plasma membrane cell-adhesion molecules ISS
Inferred from Sequence or Structural Similarity
more info
 
cell adhesion IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
digestive tract development IEA
Inferred from Electronic Annotation
more info
 
negative regulation of bone resorption IEA
Inferred from Electronic Annotation
more info
 
negative regulation of osteoclast development IEA
Inferred from Electronic Annotation
more info
 
negative regulation of protein localization to nucleus IEA
Inferred from Electronic Annotation
more info
 
response to ethanol IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
bicellular tight junction IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
bicellular tight junction ISS
Inferred from Sequence or Structural Similarity
more info
 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
claudin-18
Names
surfactant associated 5
surfactant associated protein J
surfactant, pulmonary associated protein J

NCBI Reference Sequences (RefSeq)

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/Swiss-Prot
    P56856
    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 precursor

    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
    P56856
    Related
    ENSP00000183605.5, ENST00000183605.10
    Conserved Domains (1) summary
    cl21598
    Location:7191
    PMP22_Claudin; PMP-22/EMP/MP20/Claudin family

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20201120

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p13 Primary Assembly

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