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FLASH GENE
Symbol TJP2 contributors: mct/npt/pgu - updated : 13-01-2014
HGNC name tight junction protein 2 (zona occludens 2)
HGNC id 11828
Corresponding disease
DFNA51 neurosensory deafness 51
Location 9q21.11      Physical location : 71.736.223 - 71.870.124
Synonym name
  • Friedreich ataxia region gene X104 (tight junction protein ZO-2)
  • zonula occludens protein 2
  • Synonym symbol(s) ZO2, X104, ZO-2, MGC26306
    DNA
    TYPE functioning gene
    STRUCTURE 155.25 kb     23 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status confirmed
    Physical map
    LOC389751 9 similar to bA251O17.3 (similar to aquaporin 7) LOC389752 9 similar to mitochondrial C1-tetrahydrofolate synthase LOC286327 9q21.12 similar to Ribosome biogenesis protein BMS1 homolog MGC42630 9q21.12 hypothetical protein MGC42630 LOC392341 9 similar to Myosin Vb (Myosin 5B) LOC389753 9 similar to phosphoglucomutase 5 LOC389754 9 similar to phosphoglucomutase 5 LOC392342 9 similar to SNAG1 LOC389755 9 similar to cytochrome P-450 LOC392343 9 similar to calponin 2; Calonin 2 LOC389756 9 hypothetical gene supported by BC062701 LOC389757 9 similar to mitochondrial C1-tetrahydrofolate synthase LOC392344 9 similar to Ribosome biogenesis protein BMS1 homolog LOC392345 9 similar to zinc finger protein 91 (HPF7, HTF10) LOC389758 9 similar to chromosome 21 open reading frame 118 LOC392346 9 similar to Ribosome biogenesis protein BMS1 homolog LOC389759 9 hypothetical gene supported by AY344642; NM_199244 LOC389760 9 similar to COBW domain containing protein 3 LOC220869 9q21.13 dopamine responsive protein FOXD4L2 9q21.13 FOXD4-like 2 PGM5 9p12-q12 phosphoglucomutase 5 C9orf71 9q21.13 chromosome 9 open reading frame 71 LOC347097 9q21.13 similar to squamous cell carcinoma antigen recognized by T cells 2 PIP5K1B 9q13 phosphatidylinositol-4-phosphate 5-kinase, type I, beta C9orf42 9q21.13 chromosome 9 open reading frame 42 PRKACG 9q13 protein kinase, cAMP-dependent, catalytic, gamma FRDA 9q13-q21.1 Friedreich ataxia LOC392347 9 similar to adenylate kinase 3 alpha like TJP2 9q13-q21 tight junction protein 2 (zona occludens 2) C9orf61 9q13-q21 chromosome 9 open reading frame 61 APBA1 9q13-q21 amyloid beta (A4) precursor protein-binding, family A, member 1 (X11) LOC375743 9q21.13 similar to CG3073-PA LOC138255 9q21.13 similar to RIKEN cDNA 1700028P14 MAMDC2 9q21.2 MAM domain containing 2 RNU2P3 9q21.2 RNA, U2 small nuclear pseudogene 3 SMC5L1 9q21.11 SMC5 structural maintenance of chromosomes 5-like 1 (yeast) BTEB1 9q13 basic transcription element binding protein 1 TRPM3 9q21.13 transient receptor potential cation channel, subfamily M, member 3 LOC392348 9 similar to CDC91 cell division cycle 91-like 1; GPI transamidase component C9orf63 9q21.2 chromosome 9 open reading frame 63 TMEM2 9q13-q21 transmembrane protein 2 CGI-67 MGC61599 LOC392349 9 similar to Heat shock 27 kDa protein (HSP 27) (Stress-responsive protein 27) (SRP27) (Estrogen-regulated 24 kDa protein) (28 kDa heat shock protein) C9orf57 9q21.2 chromosome 9 open reading frame 57
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    23 - 4725 133 1190 . abundant in the heart and brain . in brain and skeletal muscle, only this isoform is detectable . present almost exclusively in normal tissue . downregulated in several breast adenocarcinomas and breast cancer cell lines and in pancreatic adenocarcinoma of the ductal type 2000 11018256
  • transcribed from promoter A
  • 23 exons
  • 20 splicing 4228 117 1043 - 2000 11018256
  • transcribed from promoter A
  • alternatively spliced transcript with in-frame skipping of exons 20 and 21, resulting in a protein that lacks 147 amino acids in the C-terminal region (21 exons)
  • - splicing - - 993 - 2000 11018256
    transcribed from promoter A
    - - - - 1167 . high level in the kidney, pancreas, heart and placenta . found in normal as well as in most neoplastic tissues 2000 11018256
  • transcribed from promoter C
  • lacking an N-terminal 23-amino acid peptide present in variant A
  • - splicing - - 1019 - 2000 11018256
  • transcribed from promoter C
  • lacking an N-terminal 23-amino acid peptide present in variant A
  • 22 - 4129 - 1020 - -
    19 - 4720 - 993 - -
    22 - 4459 - 1157 - -
    23 - 4500 - 1221 - -
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularvesselscapillary  highly
    Digestiveintestinelarge intestinecolon highly
     stomach   highly
    Endocrineparathyroid   highly
     thyroid   highly
    Hearing/Equilibriumearinner  highly
    Respiratoryrespiratory tracttrachea  highly
    Visualeye   moderately
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Epithelialbarrier/liningendothelium  
    Epithelialsecretoryglandularendocrine 
    cells
    SystemCellPubmedSpeciesStageRna symbol
     epithelial cell
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • three copies of a PDZ domain with slight divergence acting as protein-recognition modules that may mediate protein assembly and subunit localization
  • a SH3 domain
  • a guanylate kinase-like domain
  • conjugated PhosphoP
    HOMOLOGY
    interspecies ortholog to murine Tjp2 (86.2pc)
    Homologene
    FAMILY
  • MAGUK (membrane-associated guanylate kinase homolog) superfamily
  • CATEGORY adhesion , chaperone/stress , structural protein
    SUBCELLULAR LOCALIZATION     plasma membrane,junction,tight
        intracellular
    intracellular,cytoplasm,cytosolic
    intracellular,nucleus,nucleoplasm
    text
  • peripheral membrane
  • cytoplasmic side
  • nuclear under environmental stress conditions and in migratory endothelial cells and subconfluent epithelial cell cultures
  • in the mammalian inner ear, TJP2 is expressed mainly in tight junctions, and also in the cytoplasm and nuclei
  • TJP2 and YAP1 proteins co-localize in the nucleus
  • not exclusively expressed in epithelia and endothelia but is also found in other cell types lacking tight junctions
  • present at the tight junction and nucleus of epithelial cells
  • basic FUNCTION
  • F actin filament binding scaffold protein
  • structural component of tight junction and adherens junction
  • acting as a guanylate kinase
  • may serve to anchor regulatory proteins at gap junctions composed of GJD2
  • exerts a junction-unrelated function, supporting the notion of a general "dual" role of junctional MAGUKs, being an indispensable structural component at cell-cell junctions and a nuclear factor influencing gene expression and cell behavior
  • can control the subcellular location of TAZ
  • facilitates the nuclear localization and pro-apoptotic function of YAP1, and this activity is PDZ-domain-dependent
  • scaffold molecule possessing several specific domains organizing multimeric complexes with both signaling and structural functions
  • mediates specific homotypic cell-to-cell contacts between vascular smooth muscle cells
  • may play a more general role in organizing functional protein complexes and in recruiting signaling molecules that regulate intercellular communication through tight junction independent mechanisms
  • TJP1 and TJP2 are required not only for TJ assembly but also for regulating the organization and functional activity of the apical cytoskeleton, particularly the perijunctional actomyosin ring
  • represses the transcription of genes regulated by the Wnt/CTNNB1 pathway
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • bind to the C-terminus of OCLN
  • TJP1
  • F-actin skeleton
  • alpha catenin
  • SAFB
  • interacting with ANGPT1 (have anti-permeability activity through up-regulation of TJP2)
  • associating directly with the C terminus of claudins
  • direct binding to scaffold attachment factor B, a heterogeneous nuclear ribonucleoprotein involved in chromatin organization and the transcriptional control of eukaryotic genes
  • interacting with GSK3B (TJP2 overexpression results in changes in GSK3B phosphorylation and apoptosis-related gene expression and these changes increase the susceptibility of inner ear cells to apoptosis)
  • interaction between TAZ and TJP1, TJP2, through TAZ C-terminal PDZ binding motif
  • uses its first PDZ domain to form a complex with YAP1
  • associates with JAK1 in vascular smooth muscle cells via TJP2 N-terminal fragment and JAK1 serves for tyrosine phosphorylation of TJP2 in VSMC
  • AMOTL1 inhibits pro-apoptotic function of YAP1, whereas TJP2 enhances it
  • LASP1-binding partner, TJP2, having a role in the signal transduction pathway of LASP1 nucleo-cytoplasmatic shuttling
  • SNX27-TJP2 interaction requires the PDZ domain of SNX27 and the C-terminal PDZ-binding motif of TJP2 (role for SNX27-TJP2 interactions in tight junction maintenance and function)
  • F11R associates directly with TJP2 and indirectly with afadin, and this complex, along with RAPGEF2, activates the small GTPase RAP2C
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) DFNA51
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional germinal mutation      
    in familial hypercholanemia
    tumoral        
    in pancreatic adenocarcinoma, breast adenocarcinoma
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    cancer  
    networking between TAZ and TJP1 and TJP2 offers a promising target in the control of proliferation and apoptosis, epithelial-mesenchymal transition and migration capacity of cancer cells
    cancer  
    YAP1-TJP2 complex could represent a target for cancer therapy
    ANIMAL & CELL MODELS