Homo sapiens Protein: TJP2 | |||||||||||||||||||||||
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Summary | |||||||||||||||||||||||
InnateDB Protein | IDBP-372317.5 | ||||||||||||||||||||||
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 | ENSP00000392178 | ||||||||||||||||||||||
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.
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Gene Ontology | |||||||||||||||||||||||
Molecular Function |
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Biological Process |
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Cellular Component |
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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 |
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PFAM |
PF00018
PF14604 PF00595 PF13180 PF00625 PF07653 |
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PRINTS |
PR00452
PR01597 PR01599 |
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PIRSF | |||||||||||||||||||||||
SMART |
SM00326
SM00228 SM00072 |
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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_001163885 | ||||||||||||||||||||||
HUGO | HGNC:11828 | ||||||||||||||||||||||
OMIM | 607709 | ||||||||||||||||||||||
CCDS | CCDS55317 | ||||||||||||||||||||||
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 | ||||||||||||||||||||||