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MGP000666

UniProt Annotations

Entry Information

Gene Name	claudin 4
Protein Entry	CLD4_HUMAN
UniProt ID	O14493
Species	Human

Comments

Comment type	Description
Disease	Note=CLDN4 is located in the Williams-Beuren syndrome (WBS) critical region. WBS results from a hemizygous deletion of several genes on chromosome 7q11.23, thought to arise as a consequence of unequal crossing over between highly homologous low-copy repeat sequences flanking the deleted region.
Function	Plays a major role in tight junction-specific obliteration of the intercellular space. {ECO:0000250}.
Ptm	Phosphorylated. Phosphorylation by EPHA2 is stimulated by EFNA1 and alters interaction with TJP1. {ECO:0000269\|PubMed:16236711}.
Similarity	Belongs to the claudin family. {ECO:0000305}.
Subcellular Location	Cell junction, tight junction {ECO:0000250}. Cell membrane {ECO:0000250}; Multi-pass membrane protein {ECO:0000250}.
Subunit	Directly interacts with TJP1/ZO-1, TJP2/ZO-2 and TJP3/ZO- 3. Interacts with EPHA2; phosphorylates CLDN4 and may regulate tight junctions. {ECO:0000269\|PubMed:16236711}.
Web Resource	Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/CLDN4ID42975ch7q11.html";