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CLDN2 claudin 2 [ Homo sapiens (human) ]

Gene ID: 9075, updated on 23-Nov-2021

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
Also known as
OAZON
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
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Genomic context

See CLDN2 in Genome Data Viewer
Location:
Xq22.3
Exon count:
4
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) X NC_000023.11 (106900164..106930861)
105.20201022 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 Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Azoospermia, obstructive, with nephrolithiasis
MedGen: CN295913 OMIM: 301060 GeneReviews: Not available
Compare labs
Common genetic variants in the CLDN2 and PRSS1-PRSS2 loci alter risk for alcohol-related and sporadic pancreatitis.
GeneReviews: Not available

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 PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

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
PubMed 
involved_in calcium-independent cell-cell adhesion via plasma membrane cell-adhesion molecules IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
PubMed 
Component Evidence Code Pubs
is_active_in bicellular tight junction IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in bicellular tight junction ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in cell-cell junction IDA
Inferred from Direct Assay
more info
PubMed 
located_in integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

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.

Genomic

  1. NG_016445.1 RefSeqGene

    Range
    25239..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

    Source sequence(s)
    AA973123, AF177340, AK075405
    Consensus CDS
    CCDS14524.1
    UniProtKB/Swiss-Prot
    P57739
    Related
    ENSP00000441283.1, ENST00000541806.6
    Conserved Domains (1) summary
    cl21598
    Location:23181
    PMP22_Claudin; PMP-22/EMP/MP20/Claudin family
  2. NM_001171095.2NP_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_020384.4NP_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, ENST00000336803.2
    Conserved Domains (1) summary
    cl21598
    Location:23181
    PMP22_Claudin; PMP-22/EMP/MP20/Claudin family

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000023.11 Reference GRCh38.p13 Primary Assembly

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