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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

TJP2 Gene

protein-coding   GIFtS: 65
GCID: GC09P071766

Tight Junction Protein 2

(Previous names: deafness, autosomal dominant 51)
(Previous symbol: DFNA51)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Tight Junction Protein 21 2 3     X1042 3
ZO22 3 5     Deafness, Autosomal Dominant 511
DFNA511 2     C9DUPq21.112
Friedreich Ataxia Region Gene X104 (Tight Junction Protein ZO-2)1 2     DUP9q21.112
Zona Occludens 21 2     Tight Junction Protein ZO-22
Zonula Occludens Protein 22 3     Zona Occludens Protein 23

External Ids:    HGNC: 118281   Entrez Gene: 94142   Ensembl: ENSG000001191397   OMIM: 6077095   UniProtKB: Q9UDY23   

Export aliases for TJP2 gene to outside databases

Previous GC identifers: GC09P062833 GC09P063592 GC09P065359 GC09P067246 GC09P067193 GC09P068965 GC09P070956 GC09P041580


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for TJP2 Gene:
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)

GeneCards Summary for TJP2 Gene: 
TJP2 (tight junction protein 2) is a protein-coding gene. Diseases associated with TJP2 include friedreich ataxia, and hypercholanemia, familial, and among its related super-pathways are Apoptotic execution phase and Sertoli-Sertoli Cell Junction Dynamics. GO annotations related to this gene include protein binding and guanylate kinase activity. An important paralog of this gene is DLG5.

UniProtKB/Swiss-Prot: ZO2_HUMAN, Q9UDY2
Function: Plays a role in tight junctions and adherens junctions

Gene Wiki entry for TJP2 (Tight junction protein 2) Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000009.11  NT_008470.19  NC_018920.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the TJP2 gene promoter:
         AP-1   p53   ATF-2   c-Jun   C/EBPalpha   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidTJP2 promoter sequence
   Search SABiosciences Chromatin IP Primers for TJP2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat TJP2


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 9q13-q21   Ensembl cytogenetic band:  9q21.11   HGNC cytogenetic band: 9q13-q21

TJP2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
TJP2 gene location

GeneLoc information about chromosome 9         GeneLoc Exon Structure

GeneLoc location for GC09P071766:  view genomic region     (about GC identifiers)

Start:
71,736,209 bp from pter      End:
71,870,124 bp from pter
Size:
133,916 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: ZO2_HUMAN, Q9UDY2 (See protein sequence)
Recommended Name: Tight junction protein ZO-2  
Size: 1190 amino acids; 133958 Da
Subunit: Homodimer, and heterodimer with ZO1. Interacts with occludin, SAFB and UBN1. Interaction with SAFB occurs
in the nucleus. Interacts with SCRIB
Subcellular location: Cell junction, adherens junction. Cell membrane; Peripheral membrane protein; Cytoplasmic
side (By similarity). Cell junction, tight junction (By similarity). Nucleus (By similarity). Note=Also nuclear
under environmental stress conditions and in migratory endothelial cells and subconfluent epithelial cell
cultures (By similarity)
Sequence caution: Sequence=AAA61300.1; Type=Frameshift; Positions=1086, 1092, 1095;
2 PDB 3D structures from and Proteopedia for TJP2:
2OSG (3D)        3E17 (3D)    
Secondary accessions: A2A3H9 B7Z2R8 B7Z7T6 F5H301 F5H886 Q15883 Q5VXL0 Q5VXL1 Q8N756 Q8NI14
Q99839 Q9UDY0 Q9UDY1
Alternative promoter usage, Alternative splicing: 7 isoforms:  Q9UDY2-1   Q9UDY2-2   Q9UDY2-5   Q9UDY2-3   Q9UDY2-4   Q9UDY2-6   Q9UDY2-7   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for TJP2: NX_Q9UDY2

Explore proteomics data for TJP2 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9UDY2

  • TJP2 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    TJP2 Protein Expression
    REFSEQ proteins (6 alternative transcripts): 
    NP_001163885.1  NP_001163886.1  NP_001163887.1  NP_001164101.1  NP_004808.2  NP_963923.1  

    ENSEMBL proteins: 
     ENSP00000475926   ENSP00000366469   ENSP00000402941   ENSP00000366453   ENSP00000345893  
     ENSP00000265384   ENSP00000442090   ENSP00000438262   ENSP00000392178  
    Reactome Protein details: Q9UDY2
    Human Recombinant Protein Products for TJP2: 
    Browse Purified and Recombinant Proteins at EMD Millipore
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    OriGene MassSpec for TJP2 
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    GenScript Custom Purified and Recombinant Proteins Services for TJP2
    Novus Biologicals TJP2 Protein
    Novus Biologicals TJP2 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for TJP2 

    Gene Ontology (GO): 5/7 cellular component terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005654nucleoplasm TAS--
    GO:0005737cytoplasm IDA--
    GO:0005829cytosol TAS--
    GO:0005886plasma membrane TAS--
    GO:0005912adherens junction IEA--

    TJP2 for ontologies           About GeneDecksing



    TJP2 Antibody Products: 
    EMD Millipore Mono- and Polyclonal Antibodies for the study of TJP2
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    Assay Products for TJP2: 
    Browse Kits and Assays available from EMD Millipore
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    GenScript Custom Assay Services for TJP2
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for TJP2 
    Cloud-Clone Corp. CLIAs for TJP2


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    5/8 InterPro protein domains (see all 8):
     IPR011511 SH3_2
     IPR008144 Guanylate_kin
     IPR008145 Guanylate_kin/L-typ_Ca_channel
     IPR027417 P-loop_NTPase
     IPR001478 PDZ

    Graphical View of Domain Structure for InterPro Entry Q9UDY2

    ProtoNet protein and cluster: Q9UDY2

    5/6 Blocks protein domains (see all 6):
    IPB001452 SH3 domain signature
    IPB001478 PDZ/DHR/GLGF domain
    IPB005417 Zona occludens protein family signature
    IPB005419 Zona occludens protein ZO-2 signature
    IPB008144 Guanylate kinase


    UniProtKB/Swiss-Prot: ZO2_HUMAN, Q9UDY2
    Similarity: Belongs to the MAGUK family
    Similarity: Contains 1 guanylate kinase-like domain
    Similarity: Contains 3 PDZ (DHR) domains
    Similarity: Contains 1 SH3 domain


    TJP2 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: ZO2_HUMAN, Q9UDY2
    Function: Plays a role in tight junctions and adherens junctions

         Genatlas biochemistry entry for TJP2:
    tight junction (zona occludens) protein ZO-2,homolog to yeast guanylate kinase and Drosophila lethal discs large
    tumor suppressor protein (Dlg),interacting with occludin,TJP1,the F actin skeleton and alpha catenin

         Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004385guanylate kinase activity TAS8824195
    GO:0005515protein binding IPI15975580
         
    TJP2 for ontologies           About GeneDecksing


    Phenotypes:
         5 GenomeRNAi human phenotypes for TJP2:
     Decreased Hepatitis C virus re  Downregulation of NF-kappaB pa  Downregulation of NF-kappaB pa  G0/1 arrest 
     Increased S DNA content 

         4 MGI mutant phenotypes (inferred from 1 allele(MGI details for Tjp2):
     cellular  embryogenesis  growth/size  mortality/aging 

    TJP2 for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for TJP2 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for TJP2

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for TJP2 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for TJP2 

    miRNA
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    miRTarBase miRNAs that target TJP2:
    hsa-mir-124 (MIRT002718)

    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat TJP2
    8/14 QIAGEN miScript miRNA Assays for microRNAs that regulate TJP2 (see all 14):
    hsa-miR-498 hsa-miR-3163 hsa-miR-520d-5p hsa-miR-130a* hsa-miR-2110 hsa-miR-23c hsa-miR-181a-2* hsa-miR-124
    SwitchGear 3'UTR luciferase reporter plasmidTJP2 3' UTR sequence
    Inhib. RNA
    Products:
        
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    Gene Editing
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    Clone
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TJP2


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for TJP2 About   (see all 14)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Apoptotic cleavage of cellular proteins
    Apoptotic cleavage of cellular proteins0.73
    Apoptotic execution phase0.73
    2Sertoli-Sertoli Cell Junction Dynamics
    Sertoli-Sertoli Cell Junction Dynamics0.38
    Epithelial Tight Junctions0.36
    3Cell adhesion Endothelial cell contacts by junctional mechanisms
    Cell adhesion Endothelial cell contacts by junctional mechanisms0.97
    4Cell adhesion Gap junctions
    Cell adhesion Gap junctions0.89
    5Signaling by GPCR
    Signal Transduction0.55

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    3 EMD Millipore Pathways for TJP2
        Cell adhesion Gap junctions
    Cell adhesion Tight junctions
    Cell adhesion Endothelial cell contacts by junctional mechanisms

    3 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for TJP2
        Sertoli-Sertoli Cell Junction Dynamics
    Epithelial Tight Junctions
    Signaling in Gap Junctions

    1 Cell Signaling Technology (CST) Pathway for TJP2
        Adhesion

    3 GeneGo (Thomson Reuters) Pathways for TJP2
        Cell adhesion Endothelial cell contacts by junctional mechanisms
    Cell adhesion Tight junctions
    Cell adhesion Gap junctions

    1 BioSystems Pathway for TJP2
        Validated targets of C-MYC transcriptional repression

    5/6        Reactome Pathways for TJP2 (see all 6)
        Signaling by Hippo
    Apoptotic cleavage of cell adhesion proteins
    Apoptotic execution phase
    Apoptotic cleavage of cellular proteins
    Signal Transduction


    2         Kegg Pathways  (Kegg details for TJP2):
        Tight junction
    Vibrio cholerae infection


    TJP2 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for TJP2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/73 Interacting proteins for TJP2 (Q9UDY21, 2, 3 ENSP000003664534) via UniProtKB, MINT, STRING, and/or I2D (see all 73)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    YWHABP319462, 3, ENSP000003001614MINT-50953 I2D: score=4 STRING: ENSP00000300161
    YWHAGP619812, 3, ENSP000003063304MINT-50823 I2D: score=4 STRING: ENSP00000306330
    TJP1Q071572, 3, ENSP000002815374MINT-6800622 I2D: score=3 STRING: ENSP00000281537
    BCRP112742, 3, ENSP000003035074MINT-69540 I2D: score=1 STRING: ENSP00000303507
    WWTR1Q9GZV52, 3, ENSP000003538474MINT-7995020 I2D: score=1 STRING: ENSP00000353847
    About this table

    Gene Ontology (GO): 3 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006915apoptotic process TAS--
    GO:0006921cellular component disassembly involved in execution phase of apoptosis TAS--
    GO:0035329hippo signaling cascade TAS--

    TJP2 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    TJP2 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for TJP2 (ZO2)

    4 Novoseek inferred chemical compound relationships for TJP2 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    guanylate 55.8 4 8566365 (1), 9837755 (1), 12403786 (1), 11716757 (1)
    calcium 12.7 5 8408213 (1), 10883394 (1), 19176351 (1)
    atp 0 3 10330056 (3)
    tyrosine 0 4 10330056 (2), 7542259 (1)

    Search CenterWatch for drugs/clinical trials and news about TJP2 / ZO2

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for TJP2 gene (6 alternative transcripts): 
    NM_001170414.2  NM_001170415.1  NM_001170416.1  NM_001170630.1  NM_004817.3  NM_201629.3  

    Unigene Cluster for TJP2:

    Tight junction protein 2
    Hs.50382  [show with all ESTs]
    Unigene Representative Sequence: NM_004817
    11 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000413932 ENST00000606364 ENST00000377259 ENST00000423935 ENST00000377245(uc004ahe.3 uc004ahf.3)
    ENST00000348208(uc010mom.1) ENST00000265384(uc004ahd.3) ENST00000498204
    ENST00000535702(uc011lru.2) ENST00000539225(uc011lrv.2) ENST00000453658(uc004ahb.1 uc011lrt.1 uc011lrs.2)

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    8/14 QIAGEN miScript miRNA Assays for microRNAs that regulate TJP2 (see all 14):
    hsa-miR-498 hsa-miR-3163 hsa-miR-520d-5p hsa-miR-130a* hsa-miR-2110 hsa-miR-23c hsa-miR-181a-2* hsa-miR-124
    SwitchGear 3'UTR luciferase reporter plasmidTJP2 3' UTR sequence
    Inhib. RNA
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    Additional mRNA sequence: 

    AF083892.1 AF083893.1 AF489824.1 AK295016.1 AK295034.1 AK302483.1 AK304447.1 AK307697.1 
    AK308564.1 BC027592.1 BC028426.1 L27476.1 U84581.1 

    24 DOTS entries:

    DT.454601  DT.101980037  DT.100822240  DT.95174262  DT.100036395  DT.40220809  DT.102832607  DT.121157064 
    DT.91761503  DT.121157078  DT.100822241  DT.121157018  DT.121157065  DT.40115922  DT.95174266  DT.100822239 
    DT.102832604  DT.121157037  DT.121157041  DT.121157112  DT.305712  DT.95174254  DT.92050174  DT.95336235 

    24/319 AceView cDNA sequences (see all 319):

    CA449797 N66215 AA194859 AU142000 CB162148 CB153750 AI276186 H59381 
    BQ652704 AW272483 AW950623 AV650575 CB161832 AW516188 CB161675 AV650602 
    AW662702 AI521523 AV649887 AW276574 AF083892 AI364250 AV654365 AI350181 

    GeneLoc Exon Structure

    5/16 Alternative Splicing Database (ASD) splice patterns (SP) for TJP2 (see all 16)    About this scheme

    ExUns: 1 ^ 2a · 2b · 2c ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10a · 10b ^ 11a · 11b ^ 12 ^ 13a · 13b · 13c · 13d ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^
    SP1:                                            -     -     -     -                             -     -                                                         
    SP2:                                            -     -     -     -                             -     -                                                         
    SP3:                                -     -     -     -     -     -                             -     -                                                         
    SP4:                                -     -           -     -     -                                                                                             
    SP5:                                                        -     -                             -     -                                                         

    ExUns: 19a · 19b ^ 20a · 20b ^ 21 ^ 22 ^ 23 ^ 24 ^ 25a · 25b · 25c ^ 26a · 26b ^ 27a · 27b · 27c ^ 28 ^ 29a · 29b ^ 30 ^ 31a · 31b · 31c ^ 32a · 32b
    SP1:  -                                                           -     -                       -           -                       -     -               
    SP2:  -                                                           -     -                                                                                 
    SP3:                                                                                                                                                      
    SP4:                                                                                                                                                      
    SP5:                                                                                                                                                      


    ECgene alternative splicing isoforms for TJP2

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    TJP2 expression in normal human tissues (normalized intensities)      TJP2 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TATTGACAAC
    TJP2 Expression
    About this image


    TJP2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/6 selected tissues (see all 6) fully expand
     
     Pancreas (Endocrine System)
             Pancreatic endoderm/endocrine precursor-like cells ( A scalable, suspension protocol...
     
     Bone (Muscoskeletal System)
             Zeugopod Periosteum
     
     Blood (Hematopoietic System)
             Peripheral blood-derived hematopoietic stem cells
     
     Eye (Sensory Organs)
             Retina
     
     Brain (Nervous System)
             Myelinating Oligodendrocyte Cells Forebrain White Matter

    See TJP2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for TJP2

    SOURCE GeneReport for Unigene cluster: Hs.50382

    UniProtKB/Swiss-Prot: ZO2_HUMAN, Q9UDY2
    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

        SABiosciences Expression via Pathway-Focused PCR Arrays including TJP2: 
              Tight Junctions in human mouse rat
              Cell Junction PathwayFinder in human mouse rat
              Gap Junctions in human mouse rat

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for TJP2 gene from 7/16 species (see all 16)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Tjp21 , 5 tight junction protein 21, 5 84.42(n)1
    87.2(a)1
      19 (19.17 cM)5
    218731  NM_001198985.11  NP_001185914.11 
     240945235 
    chicken
    (Gallus gallus)
    Aves TJP21 tight junction protein 2 (zona occludens 2) 73.68(n)
    78.62(a)
      395751  NM_204918.1  NP_990249.1 
    lizard
    (Anolis carolinensis)
    Reptilia TJP26
    tight junction protein 2
    76(a)
    1 ↔ 1
    2(49611370-49666501)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.48302 Xenopus laevis transcribed sequence with moderate similarity more 77.09(n)    BJ068509.1 
    zebrafish
    (Danio rerio)
    Actinopterygii tjp2a1 tight junction protein 2a (zona occludens 2) 61.04(n)
    61.87(a)
      565446  NM_001201570.1  NP_001188499.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta pyd6
    polychaetoid
    14(a)
    1 → many
    3R(4652790-4757599)
    worm
    (Caenorhabditis elegans)
    Secernentea zoo-16
    Protein ZOO-1, isoform a
    23(a)
    1 → many
    I(14529531-14546721)


    ENSEMBL Gene Tree for TJP2 (if available)
    TreeFam Gene Tree for TJP2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for TJP2 gene
    DLG52  TJP32  TJP12  
    18/27 SIMAP similar genes for TJP2 using alignment to 4 protein entries:     ZO2_HUMAN (see all proteins) (see all similar genes):
    TJP1    DLG4    DLG1    DKFZp686M05161    TJP3    DLG3
    PDZK1P1    PDZK1P2    DLG2    GOPC    IL16    ERBB2IP
    LRRC7    PTPN13    PDZD2    INADL    FRMPD2    GRIP1

    TJP2 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/3241 SNPs in TJP2 are shown (see all 3241)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 9 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0160044
    Familial hypercholanemia (FHCA)4--see VAR_0160042 V A mis40--------
    rs101181461,2
    C,F,A,H--71734198(+) GCGCCC/TGCCAC 1 -- us2k15Minor allele frequency- T:0.25NA WA 12
    rs1440643121,2
    C--71734232(+) ATTTTC/TAGTAG 1 -- us2k10--------
    rs1464522261,2
    --71734253(+) TCACCA/GTGGTA 1 -- us2k10--------
    rs1926157871,2
    --71734255(+) ACCATA/GGTAGC 1 -- us2k10--------
    rs1408278951,2
    --71734325(+) GGATTA/CCAGGT 1 -- us2k10--------
    rs107814251,2
    C,F,A,H--71734346(+) AAGCCT/CGGCCC 1 -- us2k17Minor allele frequency- C:0.43NA WA EA 366
    rs773638681,2
    C,F--71734351(+) CGGCCC/TGTTTT 1 -- us2k12Minor allele frequency- T:0.04WA 120
    rs123535311,2
    C--71734378(+) acagtG/Ttaagg 1 -- us2k10--------
    rs1449879931,2
    C--71734426(+) TTATG-/ACAGTGA 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for TJP2 (71736209 - 71870124 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10/38 variations for TJP2 (see all 38):    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2466554CNV Deletion19546169
    esv2559913CNV Deletion19546169
    nsv821495CNV Deletion20802225
    esv2677043CNV Deletion23128226
    esv2789CNV Deletion18987735
    esv4666CNV Deletion18987735
    esv3271CNV Deletion18987735
    esv2738532CNV Deletion23290073
    esv1026000CNV Deletion17803354
    esv2661677CNV Deletion23128226


    Human Gene Mutation Database (HGMD): TJP2
    SABiosciences Cancer Mutation PCR Assays
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    DNA2.0 Custom Variant and Variant Library Synthesis for TJP2

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 607709   
    OMIM disorders: 607748  
    UniProtKB/Swiss-Prot: ZO2_HUMAN, Q9UDY2
  • Familial hypercholanemia (FHCA) [MIM:607748]: A disorder characterized by elevated serum bile acid
    concentrations, itching, and fat malabsorption. Note=The disease may be caused by mutations affecting distinct
    genetic loci, including the gene represented in this entry

  • 20/22 diseases for TJP2 (see all 22):    About MalaCards
    friedreich ataxia    hypercholanemia, familial    otosclerosis    brain edema
    lung squamous cell carcinoma    intrahepatic cholestasis    cholestasis    ataxia
    endotheliitis    cholera    sinusitis    dementia
    multiple sclerosis    glioblastoma    squamous cell carcinoma    hypoxia
    adenocarcinoma    retinitis    breast cancer    colorectal cancer


    TJP2 for disorders           About GeneDecksing

    5 Novoseek inferred disease relationships for TJP2 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    adenocarcinoma 13.7 5 10360833 (1), 11018256 (1), 17585317 (1), 10495427 (1)
    breast cancer 0 1 15571953 (1)
    tumors 0 4 7590743 (1), 8132716 (1), 7485497 (1)
    carcinoma 0 1 10495427 (1)
    cancer 0 1 11018256 (1)

    Genetic Association Database (GAD): TJP2

    Export disorders for TJP2 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for TJP2 gene, integrated from 9 sources (see all 160):
    (articles sorted by number of sources associating them with TJP2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The Friedreich ataxia region: characterization of two novel genes and reduction of the critical region to 300 kb. (PubMed id 7951235)1, 2, 3 Duclos F.... Koenig M. (1994)
    2. Complex inheritance of familial hypercholanemia with associated mutations in TJP2 and BAAT. (PubMed id 12704386)1, 2, 9 Carlton V.E.H.... Bull L.N. (2003)
    3. Organization and expression of the human zo-2 gene (tjp-2) in normal and neoplastic tissues. (PubMed id 11018256)1, 2, 9 Chlenski A....Scarpelli D.G. (2000)
    4. Zo-2 gene alternative promoters in normal and neoplastic human pancreatic duct cells. (PubMed id 10495427)1, 2, 9 Chlenski A.... Scarpelli D.G. (1999)
    5. Tight junction protein ZO-2 is differentially expressed in normal pancreatic ducts compared to human pancreatic adenocarcinoma. (PubMed id 10360833)1, 2, 9 Chlenski A.... Scarpelli D.G. (1999)
    6. Heritability and genome-wide association analysis of r enal sinus fat accumulation in the Framingham Heart Study. (PubMed id 22044751)1, 4 Foster M.C....Fox C.S. (2011)
    7. Genomic duplication and overexpression of TJP2/ZO-2 l eads to altered expression of apoptosis genes in progressive nonsyndromic heari ng loss DFNA51. (PubMed id 20602916)1, 3 Walsh T....Avraham K.B. (2010)
    8. Characterization of the ubinuclein protein as a new member of the nuclear and adhesion complex components (NaCos). (PubMed id 18823282)1, 2 Aho S.... Gruffat H. (2009)
    9. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)1, 2 Olsen J.V....Mann M. (2006)
    10. hScrib interacts with ZO-2 at the cell-cell junctions of epithelial cells. (PubMed id 15975580)1, 2 Metais J.Y....Borg J.P. (2005)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 9414 HGNC: 11828 AceView: TJP2 Ensembl:ENSG00000119139 euGenes: HUgn9414
    ECgene: TJP2 Kegg: 9414 H-InvDB: TJP2

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for TJP2 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for TJP2 Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for TJP2 gene:
    Search GeneIP for patents involving TJP2

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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    About This Section

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