CLDN4

Claudin 4, also known as CLDN4, is a protein which in humans is encoded by the CLDN4 gene. It belongs to the group of claudins.

CLDN4
Identifiers
Aliases	CLDN4, CPE-R, CPER, CPETR, CPETR1, WBSCR8, hCPE-R, claudin 4
External IDs	OMIM: 602909; MGI: 1313314; HomoloGene: 1000; GeneCards: CLDN4; OMA:CLDN4 - orthologs
Gene location (Human) Chr. Chromosome 7 (human)[1] Band 7q11.23 Start 73,799,542 bp[1] End 73,832,690 bp[1]
Gene location (Mouse) Chr. Chromosome 5 (mouse)[2] Band 5 G2|5 74.9 cM Start 134,973,973 bp[2] End 134,975,788 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in mucosa of transverse colon right uterine tube olfactory zone of nasal mucosa skin of abdomen skin of leg minor salivary glands rectum left lobe of thyroid gland mucosa of sigmoid colon right lobe of thyroid gland Top expressed in blastocyst transitional epithelium of urinary bladder lip corneal stroma saccule otic placode otic vesicle submandibular gland esophagus duodenum More reference expression data BioGPS More reference expression data
Gene ontology Molecular function structural molecule activity transmembrane signaling receptor activity identical protein binding chloride channel activity protein binding Cellular component integral component of membrane cell junction basal plasma membrane apicolateral plasma membrane integral component of plasma membrane apical plasma membrane lateral plasma membrane bicellular tight junction membrane plasma membrane chloride channel complex Biological process response to progesterone female pregnancy calcium-independent cell-cell adhesion via plasma membrane cell-adhesion molecules circadian rhythm establishment of skin barrier signal transduction chloride transport renal absorption chloride transmembrane transport ion transport Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 1364 12740 Ensembl ENSG00000189143 ENSMUSG00000047501 UniProt O14493 O35054 RefSeq (mRNA) NM_001305 NM_009903 RefSeq (protein) NP_001296 NP_034033 Location (UCSC) Chr 7: 73.8 – 73.83 Mb Chr 5: 134.97 – 134.98 Mb PubMed search [3] [4]
Wikidata
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This gene encodes an integral membrane protein, which belongs to the claudin family. The protein is a component of tight junction strands and may play a role in internal organ development and function during pre- and postnatal life. This gene is deleted in Williams-Beuren syndrome, a neurodevelopmental disorder affecting multiple systems.^[5]

Claudin 4 can also be used as a marker for distinguishing malignant mesothelioma from lung cancer and uterine serous carcinoma.^[6] As a pancreatic cancer marker in cell-blocks of effusion specimens, it has also been found to have a superior performance to BerEp4 staining.^[7]