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    CLDN18 claudin 18 [ Homo sapiens (human) ]

    Gene ID: 51208, updated on 9-Dec-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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See CLDN18 in Genome Data Viewer
    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_000003.12Genomic 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)

    NEW Try the new Transcript table

    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_2024_08

    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)