CLDN2
Claudin-2
Also known as: CLD2_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- P57739
- Gene
- CLDN2
- Ensembl
- ENSG00000165376
- Chromosome
- X
- Canonical length
- 230 aa
- Protein class
- Disease related genes, Predicted membrane proteins
- Subcellular location
- Nucleoplasm,Nucleoli,Vesicles,Plasma membrane,Cell Junctions
- Quaternary structure
- Homopolymer
OverviewNCBI Gene
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]
Canonical amino-acid sequenceUniProt
230 residues, UniProt reviewed canonical sequence.
>P57739|CLDN2
1 MASLGLQLVG YILGLLGLLG TLVAMLLPSW KTSSYVGASI VTAVGFSKGL WMECATHSTG
61 ITQCDIYSTL LGLPADIQAA QAMMVTSSAI SSLACIISVV GMRCTVFCQE SRAKDRVAVA
121 GGVFFILGGL LGFIPVAWNL HGILRDFYSP LVPDSMKFEI GEALYLGIIS SLFSLIAGII
181 LCFSCSSQRN RSNYYDAYQA QPLATRSSPR PGQPPKVKSE FNSYSLTGYVLocalizationUniProt · AlphaFold · HPA
Whether an antibody against CLDN2 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Cell surface
- Secreted
- No
- Transmembrane segments
- 4
- Mean surface accessibility (rSASA)
- 0.38
- Highest tissue expression
- 189 nTPM
Expression across tissuesHPA
Tissue
- choroid plexus: 189 nTPM
- kidney: 154 nTPM
- gallbladder: 95 nTPM
- seminal vesicle: 85 nTPM
- liver: 42 nTPM
- epididymis: 32 nTPM
Single-cell type
- epididymal efferent duct absorptive cells: 352 nCPM
- epicardial cells: 52 nCPM
- choroid plexus epithelial cells: 50 nCPM
- epididymal efferent duct ciliated cells: 49 nCPM
- proximal tubule cells: 47 nCPM
- epididymal principal cells: 42 nCPM
Immune cell
- basophil: 0 nTPM
- classical monocyte: 0 nTPM
- eosinophil: 0 nTPM
- gdT-cell: 0 nTPM
- intermediate monocyte: 0 nTPM
- MAIT T-cell: 0 nTPM
Brain region
- choroid plexus: 243 nTPM
- hippocampal formation: 18 nTPM
- cerebellum: 3.8 nTPM
- thalamus: 3.3 nTPM
- cerebral cortex: 1.6 nTPM
- midbrain: 1.2 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about CLDN2.
Disease | AllUniProt
Conditions CLDN2 is implicated in, by any mechanism.
- Azoospermia, obstructive, with nephrolithiasis (OAZON) MIM:301060
Disease | GeneticClinVar
1 pathogenic / likely-pathogenic of 39 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Azoospermia, obstructive, with nephrolithiasis
- Male infertility
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.75
- gnomAD pLI
- 0.7
- gnomAD missense Z
- 1.61
- DepMap mean gene effect
- 0.04
- DepMap dependency class
- none
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- bicellular tight junction assembly
- calcium-independent cell-cell adhesion via plasma membrane cell-adhesion molecules
- cell-cell adhesion
- innate immune response in mucosa
- paracellular transport
- regulation of bile acid secretion
- regulation of intestinal D-glucose absorption
- regulation of intestinal lipid absorption
Molecular functions
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of CLDN2 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads CLDN2 as an antibody target. Whether an autoantibody or antibody against CLDN2 could matter depends on whether native CLDN2 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
CLDN2 is annotated at the cell surface, where native CLDN2 is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.
Annotation status
The present source text does not explicitly label CLDN2 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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