Homo sapiens Gene: TJP2
Summary
InnateDB Gene IDBG-69307.7
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol TJP2
Gene Name tight junction protein 2
Synonyms C9DUPq21.11; DFNA51; DUP9q21.11; PFIC4; X104; ZO2;
Species Homo sapiens
Ensembl Gene ENSG00000119139
Encoded Proteins
tight junction protein 2 (zona occludens 2)
tight junction protein 2 (zona occludens 2)
tight junction protein 2 (zona occludens 2)
tight junction protein 2 (zona occludens 2)
tight junction protein 2 (zona occludens 2)
tight junction protein 2 (zona occludens 2)
tight junction protein 2 (zona occludens 2)
tight junction protein 2 (zona occludens 2)
tight junction protein 2
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary This gene encodes a zonula occluden that is a member of the membrane-associated guanylate kinase homolog family. The encoded protein functions as a component of the tight junction barrier in epithelial and endothelial cells and is necessary for proper assembly of tight junctions. Mutations in this gene have been identified in patients with hypercholanemia, and genomic duplication of a 270 kb region including this gene causes autosomal dominant deafness-51. Alternatively spliced transcripts encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2011]
Gene Information
Type Protein coding
Genomic Location Chromosome 9:69121264-69255208
Strand Forward strand
Band q21.11
Transcripts
ENST00000377259 ENSP00000366469
ENST00000377245 ENSP00000366453
ENST00000348208 ENSP00000345893
ENST00000265384 ENSP00000265384
ENST00000423935 ENSP00000402941
ENST00000453658 ENSP00000392178
ENST00000498204
ENST00000535702 ENSP00000442090
ENST00000539225 ENSP00000438262
ENST00000606364 ENSP00000475926
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
GO:0008022 protein C-terminus binding
Biological Process
GO:0006915 apoptotic process
GO:0006921 cellular component disassembly involved in execution phase of apoptosis
GO:0010033 response to organic substance
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
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
SSD Ortholog
Ortholog supports species divergence
Not yet available
SSD Ortholog
Ortholog supports species divergence
Pathways
NETPATH
EGFR1 pathway
REACTOME
Apoptotic execution phase pathway
Signaling by Hippo pathway
Apoptosis pathway
Signal Transduction pathway
Apoptotic cleavage of cell adhesion proteins pathway
Apoptotic cleavage of cellular proteins pathway
KEGG
Tight junction pathway
Vibrio cholerae infection pathway
INOH
PID BIOCARTA
PID NCI
Validated targets of C-MYC transcriptional repression
Cross-References
SwissProt
TrEMBL U3KQJ2
UniProt Splice Variant
Entrez Gene 9414
UniGene
RefSeq NM_004817 NM_201629 NM_001170630 NM_001170414 NM_001170415 NM_001170416 XM_006717324 XM_005252314 XM_005252312 XM_005252311 XM_005252315 XM_005252313
HUGO HGNC:11828
OMIM 607709
CCDS CCDS6627 CCDS6628 CCDS55314 CCDS55317 CCDS55315 CCDS55316
HPRD
IMGT
EMBL AL162730 AL358113 AL590238
GenPept
RNA Seq Atlas 9414