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CLDN2 claudin 2 [ Homo sapiens (human) ]

Gene ID: 9075, updated on 15-Sep-2014
Official Symbol
CLDN2provided by HGNC
Official Full Name
claudin 2provided by HGNC
Primary source
HGNC:HGNC:2041
Locus tag
RP1-75H8.2
See related
Ensembl:ENSG00000165376; HPRD:06471; MIM:300520; Vega:OTTHUMG00000022154
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]
See CLDN2 in Epigenomics, MapViewer
Location:
Xq22.3-q23
Exon count:
4
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 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, E3 ubiquitin protein ligase Neighboring gene TBC1 domain family, member 8B (with GRAM domain) 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

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

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

Protein interactions

Protein Gene Interaction Pubs
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

  • 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 biosystemEpithelial tight junctions (TJs) are composed of at least three types of transmembrane protein -occludin, claudin and junctional adhesion molecules (JAMs)- and a cytoplasmic 'plaque' consisting of ma...
  • Tight junction, conserved biosystem (from KEGG)
    Tight junction, conserved biosystemEpithelial tight junctions (TJs) are composed of at least three types of transmembrane protein -occludin, claudin and junctional adhesion molecules (JAMs)- and a cytoplasmic 'plaque' consisting of ma...
  • 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...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
identical protein binding ISS
Inferred from Sequence or Structural Similarity
more info
 
structural molecule activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
calcium-independent cell-cell adhesion ISS
Inferred from Sequence or Structural Similarity
more info
 
Component Evidence Code Pubs
extracellular vesicular exosome IDA
Inferred from Direct Assay
more info
 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
plasma membrane IEA
Inferred from Electronic Annotation
more info
 
tight junction ISS
Inferred from Sequence or Structural Similarity
more info
 
Preferred Names
claudin-2
Names
claudin-2
SP82

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 

    Range
    5001..35698
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001171092.1NP_001164563.1  claudin-2

    See proteins identical to 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, ENST00000541806
    Conserved Domains (1) summary
    cl17758
    Location:23181
    Claudin_2; PMP-22/EMP/MP20/Claudin tight junction
  2. NM_001171095.1NP_001164566.1  claudin-2

    See proteins identical to 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, ENST00000540876
    Conserved Domains (1) summary
    cl17758
    Location:23181
    Claudin_2; PMP-22/EMP/MP20/Claudin tight junction
  3. NM_020384.3NP_065117.1  claudin-2

    See proteins identical to 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, OTTHUMP00000023793, ENST00000336803, OTTHUMT00000057815
    Conserved Domains (1) summary
    cl17758
    Location:23181
    Claudin_2; PMP-22/EMP/MP20/Claudin tight junction

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000023.11 

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

Alternate HuRef

Genomic

  1. AC_000155.1 

    Range
    95771755..95802061
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018934.2 

    Range
    106054200..106084897
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)