Homo sapiens Protein: TJP2
Summary
InnateDB Protein IDBP-69313.7
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol TJP2
Protein Name tight junction protein 2 (zona occludens 2)
Synonyms C9DUPq21.11; DFNA51; DUP9q21.11; PFIC4; X104; ZO2;
Species Homo sapiens
Ensembl Protein ENSP00000345893
InnateDB Gene IDBG-69307 (TJP2)
Protein Structure
UniProt Annotation
Function Plays a role in tight junctions and adherens junctions.
Subcellular Localization 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}.
Disease Associations Familial hypercholanemia (FHCA) [MIM:607748]: A disorder characterized by elevated serum bile acid concentrations, itching, and fat malabsorption. {ECO:0000269PubMed:12704386}. Note=The disease may be caused by mutations affecting distinct genetic loci, including the gene represented in this entry.
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:0000269PubMed:11018256}.
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 51 experimentally validated interaction(s) in this database.
They are also associated with 6 interaction(s) predicted by orthology.
Experimentally validated
Total 51 [view]
Protein-Protein 51 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 6 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0004385 guanylate kinase activity
GO:0005515 protein binding
Biological Process
GO:0006915 apoptotic process
GO:0006921 cellular component disassembly involved in execution phase of apoptosis
GO:0035329 hippo signaling
GO:0046939 nucleotide phosphorylation
Cellular Component
GO:0005654 nucleoplasm
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0005886 plasma membrane
GO:0005912 adherens junction
GO:0005923 tight junction
GO:0030054 cell junction
Protein Structure and Domains
PDB ID
InterPro IPR001452 SH3 domain
IPR001478 PDZ domain
IPR005417 Zona occludens protein
IPR005419 Zona occludens protein ZO-2
IPR008144 Guanylate kinase-like
IPR008145 Guanylate kinase/L-type calcium channel beta subunit
IPR011511 Variant SH3 domain
IPR027417 P-loop containing nucleoside triphosphate hydrolase
PFAM PF00018
PF14604
PF00595
PF13180
PF00625
PF07653
PRINTS PR00452
PR01597
PR01599
PIRSF
SMART SM00326
SM00228
SM00072
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt Q9UDY2
PhosphoSite PhosphoSite-Q9UDY2
TrEMBL U3KQJ2
UniProt Splice Variant
Entrez Gene 9414
UniGene Hs.50382
RefSeq NP_963923
HUGO HGNC:11828
OMIM 607709
CCDS CCDS6628
HPRD 06369
IMGT
EMBL AF043195 AF043196 AF043197 AF083892 AF083893 AF177518 AF177519 AF177520 AF177521 AF177522 AF177523 AF177524 AF177525 AF177526 AF177527 AF177528 AF177529 AF177530 AF177531 AF177532 AF177533 AF489824 AK295034 AK302483 AL162730 AL358113 AL590238 BC027592 L27476 U84581
GenPept AAA61300 AAB41794 AAC02527 AAC33121 AAC33122 AAD20387 AAD56218 AAD56219 AAH27592 AAM28524 BAH11954 BAH13722 CAH70867 CAH70868 CAM13389