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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
    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
    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 - -
    Type widely
       expressed in (based on citations)
    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
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    SystemCellPubmedSpeciesStageRna symbol
     epithelial cell
    cell lineage
    cell lines
    at STAGE
  • 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
    interspecies ortholog to murine Tjp2 (86.2pc)
  • MAGUK (membrane-associated guanylate kinase homolog) superfamily
  • CATEGORY adhesion , chaperone/stress , structural protein
    SUBCELLULAR LOCALIZATION     plasma membrane,junction,tight
  • 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
    a component
    small molecule
  • 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
    corresponding disease(s) DFNA51
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional germinal mutation      
    in familial hypercholanemia
    in pancreatic adenocarcinoma, breast adenocarcinoma
    Variant & Polymorphism
    Candidate gene
    Therapy target
    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
    YAP1-TJP2 complex could represent a target for cancer therapy