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CLDN2 claudin 2 [ Homo sapiens (human) ]

Gene ID: 9075, updated on 5-Mar-2019

Summary

Official Symbol
CLDN2provided by HGNC
Official Full Name
claudin 2provided by HGNC
Primary source
HGNC:HGNC:2041
See related
Ensembl:ENSG00000165376 MIM:300520
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Summary
This gene product belongs to the claudin protein family whose members have been identified as major integral membrane proteins localized exclusively at tight junctions. Claudins are expressed in an organ-specific manner and regulate tissue-specific physiologic properties of tight junctions. This protein is expressed in the intestine. Alternatively spliced transcript variants with different 5' untranslated region have been found for this gene.[provided by RefSeq, Jan 2010]
Expression
Biased expression in kidney (RPKM 67.4), gall bladder (RPKM 59.4) and 4 other tissues See more
Orthologs

Genomic context

See CLDN2 in Genome Data Viewer
Location:
Xq22.3
Exon count:
4
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) X NC_000023.11 (106900164..106930861)
105 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (106143394..106174091)

Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene ring finger protein 128 Neighboring gene TBC1 domain family member 8B Neighboring gene ripply transcriptional repressor 1 Neighboring gene MORC family CW-type zinc finger 4 Neighboring gene eukaryotic translation elongation factor 1 alpha 1 pseudogene 40

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 FunctionsWhat's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
Common genetic variants in the CLDN2 and PRSS1-PRSS2 loci alter risk for alcohol-related and sporadic pancreatitis.
NHGRI GWA Catalog

HIV-1 interactions

Protein interactions

Protein Gene Interaction Pubs
Envelope surface glycoprotein gp120 env The exposure to HIV-1 or HIV-1 gp120 results in a significant downregulation of tight junction proteins ZO-1, Occludin, Claudin-1, Claudin-2, Claudin-3, Claudin-4, and Claudin-5 in human retinal pigment epithelial cells PubMed
Tat tat HIV-1 Tat disrupts and downregulates the tight-junction proteins claudin-1, claudin-3, and claudin-4 in retinal pigment epithelial cells, whereas claudin-2 is upregulated PubMed

Go to the HIV-1, Human Interaction Database

Pathways from BioSystems

  • Cell adhesion molecules (CAMs), organism-specific biosystem (from KEGG)
    Cell adhesion molecules (CAMs), organism-specific biosystemCell adhesion molecules are (glyco)proteins expressed on the cell surface and play a critical role in a wide array of biologic processes that include hemostasis, the immune response, inflammation, em...
  • Cell adhesion molecules (CAMs), conserved biosystem (from KEGG)
    Cell adhesion molecules (CAMs), conserved biosystemCell adhesion molecules are (glyco)proteins expressed on the cell surface and play a critical role in a wide array of biologic processes that include hemostasis, the immune response, inflammation, em...
  • Cell junction organization, organism-specific biosystem (from REACTOME)
    Cell junction organization, organism-specific biosystem
    Cell junction organization
  • Cell-Cell communication, organism-specific biosystem (from REACTOME)
    Cell-Cell communication, organism-specific biosystemCell-to-Cell communication is crucial for multicellular organisms because it allows organisms to coordinate the activity of their cells. Some cell-to-cell communication requires direct cell-cell cont...
  • Cell-cell junction organization, organism-specific biosystem (from REACTOME)
    Cell-cell junction organization, organism-specific biosystemEpithelial cell-cell contacts consist of three major adhesion systems: adherens junctions (AJs), tight junctions (TJs), and desmosomes. These adhesion systems differ in their function and compositio...
  • Hepatitis C, organism-specific biosystem (from KEGG)
    Hepatitis C, organism-specific biosystemHepatitis C virus (HCV) is a major cause of chronic liver disease. The HCV employ several strategies to perturb host cell immunity. After invasion, HCV RNA genome functions directly as an mRNA in the...
  • Hepatitis C, conserved biosystem (from KEGG)
    Hepatitis C, conserved biosystemHepatitis C virus (HCV) is a major cause of chronic liver disease. The HCV employ several strategies to perturb host cell immunity. After invasion, HCV RNA genome functions directly as an mRNA in the...
  • Leukocyte transendothelial migration, organism-specific biosystem (from KEGG)
    Leukocyte transendothelial migration, organism-specific biosystemLeukocyte migaration from the blood into tissues is vital for immune surveillance and inflammation. During this diapedesis of leukocytes, the leukocytes bind to endothelial cell adhesion molecules (C...
  • Leukocyte transendothelial migration, conserved biosystem (from KEGG)
    Leukocyte transendothelial migration, conserved biosystemLeukocyte migaration from the blood into tissues is vital for immune surveillance and inflammation. During this diapedesis of leukocytes, the leukocytes bind to endothelial cell adhesion molecules (C...
  • Tight junction, organism-specific biosystem (from KEGG)
    Tight junction, organism-specific biosystemTight junctions (TJs) are essential for establishing a selectively permeable barrier to diffusion through the paracellular space between neighboring cells. TJs are composed of at least three types of...
  • Tight junction, conserved biosystem (from KEGG)
    Tight junction, conserved biosystemTight junctions (TJs) are essential for establishing a selectively permeable barrier to diffusion through the paracellular space between neighboring cells. TJs are composed of at least three types of...
  • Tight junction interactions, organism-specific biosystem (from REACTOME)
    Tight junction interactions, organism-specific biosystemTight junctions (TJs) are the most apical component of the epithelial junctional complex forming a belt-like structure at the cellular junction. When visualized by freeze-fracture electron microscopy...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

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
calcium-independent cell-cell adhesion via plasma membrane cell-adhesion molecules ISS
Inferred from Sequence or Structural Similarity
more info
 
Component Evidence Code Pubs
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 IEA
Inferred from Electronic Annotation
more info
 

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.

Genomic

  1. NG_016445.1 RefSeqGene

    Range
    25213..35698
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001171092.1NP_001164563.1  claudin-2

    See identical proteins and their annotated locations for NP_001164563.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses an alternate 5' non-coding exon compared to variant 1. Variants 1-3 encode the same protein.
    Source sequence(s)
    AA973123, AF177340, AK075405
    Consensus CDS
    CCDS14524.1
    UniProtKB/Swiss-Prot
    P57739
    Related
    ENSP00000441283.1, ENST00000541806.5
    Conserved Domains (1) summary
    cl21598
    Location:23181
    PMP22_Claudin; PMP-22/EMP/MP20/Claudin family
  2. NM_001171095.1NP_001164566.1  claudin-2

    See identical proteins and their annotated locations for NP_001164566.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) uses an alternate 5' non-coding exon compared to variant 1. Variants 1-3 encode the same protein.
    Source sequence(s)
    AA973123, AK075405, AK312515
    Consensus CDS
    CCDS14524.1
    UniProtKB/Swiss-Prot
    P57739
    Related
    ENSP00000443230.1, ENST00000540876.1
    Conserved Domains (1) summary
    cl21598
    Location:23181
    PMP22_Claudin; PMP-22/EMP/MP20/Claudin family
  3. NM_020384.3NP_065117.1  claudin-2

    See identical proteins and their annotated locations for NP_065117.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant represents the predominant transcript. Variants 1-3 encode the same protein.
    Source sequence(s)
    AA973123, AK075405, DA743944
    Consensus CDS
    CCDS14524.1
    UniProtKB/Swiss-Prot
    P57739
    Related
    ENSP00000336571.1, ENST00000336803.1
    Conserved Domains (1) summary
    cl21598
    Location:23181
    PMP22_Claudin; PMP-22/EMP/MP20/Claudin family

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000023.11 Reference GRCh38.p12 Primary Assembly

    Range
    106900164..106930861
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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