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MGP003890

UniProt Annotations

Entry Information

Gene Name	tight junction protein 2
Protein Entry	ZO2_HUMAN
UniProt ID	Q9UDY2
Species	Human

Comments

Comment type	Description
Alternative Products	Event=Alternative promoter usage, Alternative splicing; Named isoforms=7; Name=A1; IsoId=Q9UDY2-1; Sequence=Displayed; Note=Produced by alternative promoter usage.; Name=A2; IsoId=Q9UDY2-2; Sequence=VSP_003149; Note=Produced by alternative splicing of isoform A1.; Name=A3; IsoId=Q9UDY2-5; Sequence=VSP_007835, VSP_007836; Note=Produced by alternative splicing of isoform A1.; Name=C1; IsoId=Q9UDY2-3; Sequence=VSP_006953; Note=Produced by alternative promoter usage.; Name=C2; IsoId=Q9UDY2-4; Sequence=VSP_006953, VSP_003149; Note=Produced by alternative splicing of isoform C1.; Name=6; IsoId=Q9UDY2-6; Sequence=VSP_046115, VSP_046116; Note=No experimental confirmation available.; Name=7; IsoId=Q9UDY2-7; Sequence=VSP_046114; Note=No experimental confirmation available.;
Disease	Cholestasis, progressive familial intrahepatic, 4 (PFIC4) [MIM:615878]: A disorder characterized by early onset of cholestasis that progresses to hepatic fibrosis, cirrhosis, and end-stage liver disease before adulthood. {ECO:0000269\|PubMed:24614073}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Disease	Familial hypercholanemia (FHCA) [MIM:607748]: A disorder characterized by elevated serum bile acid concentrations, itching, and fat malabsorption. {ECO:0000269\|PubMed:12704386}. Note=The disease may be caused by mutations affecting distinct genetic loci, including the gene represented in this entry.
Function	Plays a role in tight junctions and adherens junctions.
Interaction	Q14847:LASP1; NbExp=9; IntAct=EBI-1042602, EBI-742828;
Sequence Caution	Sequence=AAA61300.1; Type=Frameshift; Positions=1086, 1092, 1095; Evidence={ECO:0000305};
Similarity	Belongs to the MAGUK family. {ECO:0000305}.
Similarity	Contains 1 guanylate kinase-like domain. {ECO:0000255\|PROSITE-ProRule:PRU00100}.
Similarity	Contains 1 SH3 domain. {ECO:0000255\|PROSITE- ProRule:PRU00192}.
Similarity	Contains 3 PDZ (DHR) domains. {ECO:0000255\|PROSITE- ProRule:PRU00143}.
Subcellular Location	Cell junction, adherens junction. Cell membrane {ECO:0000250}; Peripheral membrane protein {ECO:0000250}; Cytoplasmic side {ECO:0000250}. Cell junction, tight junction {ECO:0000250}. Nucleus {ECO:0000250}. Note=Also nuclear under environmental stress conditions and in migratory endothelial cells and subconfluent epithelial cell cultures. {ECO:0000250}.
Subunit	Homodimer, and heterodimer with ZO1. Interacts with occludin, SAFB and UBN1. Interaction with SAFB occurs in the nucleus. Interacts with SCRIB. {ECO:0000269\|PubMed:15975580, ECO:0000269\|PubMed:17897942, ECO:0000269\|PubMed:18823282}.
Tissue Specificity	This protein is found in epithelial cell junctions. Isoform A1 is abundant in the heart and brain. Detected in brain and skeletal muscle. It is present almost exclusively in normal tissues. Isoform C1 is expressed at high level in the kidney, pancreas, heart and placenta. Not detected in brain and skeletal muscle. Found in normal as well as in most neoplastic tissues. {ECO:0000269\|PubMed:11018256}.
Web Resource	Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/TJP2ID44347ch9q21.html";