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Aliases for TJP2 Gene

Aliases for TJP2 Gene

  • Tight Junction Protein 2 2 3 4 5
  • Friedreich Ataxia Region Gene X104 (Tight Junction Protein ZO-2) 2 3
  • Zonula Occludens Protein 2 3 4
  • Zona Occludens 2 2 3
  • X104 3 4
  • ZO2 3 4
  • Deafness, Autosomal Dominant 51 2
  • Tight Junction Protein ZO-2 3
  • Zona Occludens Protein 2 4
  • C9DUPq21.11 3
  • DUP9q21.11 3
  • DFNA51 3
  • PFIC4 3

External Ids for TJP2 Gene

Previous HGNC Symbols for TJP2 Gene

  • DFNA51

Previous GeneCards Identifiers for TJP2 Gene

  • GC09P062833
  • GC09P063592
  • GC09P065359
  • GC09P067246
  • GC09P067193
  • GC09P068965
  • GC09P070956
  • GC09P071766
  • GC09P041580

Summaries for TJP2 Gene

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 Hypercholanemia, Familial and Cholestasis, Progressive Familial Intrahepatic 4. Among its related pathways are Adhesion and Blood-Brain Barrier and Immune Cell Transmigration: VCAM-1/CD106 Signaling Pathways. GO annotations related to this gene include protein domain specific binding and protein binding, bridging. An important paralog of this gene is ENSG00000283143.

UniProtKB/Swiss-Prot for TJP2 Gene

  • Plays a role in tight junctions and adherens junctions.

Gene Wiki entry for TJP2 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TJP2 Gene

Genomics for TJP2 Gene

Regulatory Elements for TJP2 Gene

Enhancers for TJP2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH09F069168 1.8 FANTOM5 Ensembl ENCODE 49.2 +54.3 54335 14.5 PKNOX1 CREB3L1 WRNIP1 ZFP64 ARID4B SIN3A DMAP1 YY1 ZNF143 FOS TJP2 PGM5 ENSG00000283143 GC09P069204
GH09F069190 1.2 Ensembl ENCODE 32.9 +69.7 69746 1.6 ATF1 MLX ARID4B THRB RARA YY1 GATA4 CREM THAP11 HMG20B TJP2 GC09P069204 ENSG00000283143
GH09F069185 1.2 Ensembl ENCODE 32 +66.6 66564 4.1 PKNOX1 ATF1 GATA2 SP5 NCOA1 REST PPARG MBD2 MEF2D SMARCA4 TJP2 PGM5 ENSG00000283143 GC09P069204
GH09F069153 1.3 Ensembl ENCODE 26.1 +33.6 33576 3.2 ATF1 PKNOX1 WRNIP1 ARID4B SIN3A DMAP1 ZNF48 YY1 GLIS2 ZNF263 TJP2 PRKACG ENSG00000283143
GH09F069095 1.1 Ensembl ENCODE 28.6 -23.3 -23340 4.6 PKNOX1 JUN ZNF384 FEZF1 ZIC2 ZNF121 GLIS2 POLR2A ZNF366 ZNF391 TJP2 PGM5 ENSG00000270236 PIR63068
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around TJP2 on UCSC Golden Path with GeneCards custom track

Promoters for TJP2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001305072 536 2801 PKNOX1 MLX ZFP64 ARID4B DMAP1 ZNF48 ETS1 GLIS2 FOS ZNF263

Genomic Location for TJP2 Gene

69,121,264 bp from pter
69,255,208 bp from pter
133,945 bases
Plus strand

Genomic View for TJP2 Gene

Genes around TJP2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TJP2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TJP2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TJP2 Gene

Proteins for TJP2 Gene

  • Protein details for TJP2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Tight junction protein ZO-2
    Protein Accession:
    Secondary Accessions:
    • A2A3H9
    • B7Z2R8
    • B7Z7T6
    • F5H301
    • F5H886
    • Q15883
    • Q5VXL0
    • Q5VXL1
    • Q8N756
    • Q8NI14
    • Q99839
    • Q9UDY0
    • Q9UDY1

    Protein attributes for TJP2 Gene

    1190 amino acids
    Molecular mass:
    133958 Da
    Quaternary structure:
    • Homodimer, and heterodimer with ZO1. Interacts with occludin, SAFB and UBN1. Interaction with SAFB occurs in the nucleus. Interacts with SCRIB. Interacts with USP53 (via the C-terminal region) (By similarity).
    • Sequence=AAA61300.1; Type=Frameshift; Positions=1086, 1092, 1095; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for TJP2 Gene

    Alternative splice isoforms for TJP2 Gene

neXtProt entry for TJP2 Gene

Post-translational modifications for TJP2 Gene

  • Ubiquitination at Lys 1016
  • Modification sites at PhosphoSitePlus

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for TJP2 (ZO2)

No data available for DME Specific Peptides for TJP2 Gene

Domains & Families for TJP2 Gene

Suggested Antigen Peptide Sequences for TJP2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • Contains 1 guanylate kinase-like domain.
  • Belongs to the MAGUK family.
  • Contains 1 guanylate kinase-like domain.
  • Contains 3 PDZ (DHR) domains.
  • Contains 1 SH3 domain.
  • Belongs to the MAGUK family.
genes like me logo Genes that share domains with TJP2: view

Function for TJP2 Gene

Molecular function for TJP2 Gene

GENATLAS Biochemistry:
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
UniProtKB/Swiss-Prot Function:
Plays a role in tight junctions and adherens junctions.

Gene Ontology (GO) - Molecular Function for TJP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004385 guanylate kinase activity TAS 8824195
GO:0005515 protein binding IPI 15975580
GO:0019904 protein domain specific binding IPI 23885123
GO:0030674 protein binding, bridging IDA 23885123
GO:0098641 cadherin binding involved in cell-cell adhesion IDA 25468996
genes like me logo Genes that share ontologies with TJP2: view
genes like me logo Genes that share phenotypes with TJP2: view

Human Phenotype Ontology for TJP2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for TJP2 Gene

MGI Knock Outs for TJP2:

Animal Model Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for TJP2 Gene

Localization for TJP2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TJP2 Gene

Cell junction, adherens junction. Cell membrane; Peripheral membrane protein; Cytoplasmic side. Cell junction, tight junction. Nucleus. Note=Also nuclear under environmental stress conditions and in migratory endothelial cells and subconfluent epithelial cell cultures. {ECO:0000250}.

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for TJP2 gene
Compartment Confidence
plasma membrane 5
nucleus 5
cytosol 5
cytoskeleton 2
extracellular 1

Gene Ontology (GO) - Cellular Components for TJP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005654 nucleoplasm TAS --
GO:0005737 cytoplasm IDA --
GO:0005829 cytosol TAS --
GO:0005886 plasma membrane TAS --
genes like me logo Genes that share ontologies with TJP2: view

Pathways & Interactions for TJP2 Gene

genes like me logo Genes that share pathways with TJP2: view

SIGNOR curated interactions for TJP2 Gene


Gene Ontology (GO) - Biological Process for TJP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0035329 hippo signaling TAS --
GO:0046037 GMP metabolic process IEA --
GO:0046710 GDP metabolic process IEA --
GO:0050892 intestinal absorption IMP 23885123
GO:0090557 establishment of endothelial intestinal barrier IMP 23885123
genes like me logo Genes that share ontologies with TJP2: view

Drugs & Compounds for TJP2 Gene

(3) Drugs for TJP2 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(1) Additional Compounds for TJP2 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with TJP2: view

Transcripts for TJP2 Gene

Unigene Clusters for TJP2 Gene

Tight junction protein 2:
Representative Sequences:

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for TJP2 Gene

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: - - - -
SP6: - - -
SP7: - -
SP8: - - - - - - - - - - - - - - - - - -
SP11: - - - - - -
SP13: - - - - - - - - -

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: - - -
SP8: - - - - - - - - - - - - - - - - - - - - -
SP9: - - - - -
SP10: - - - - - - -
SP13: - - - - - - - - - -

Relevant External Links for TJP2 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for TJP2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for TJP2 Gene

Protein differential expression in normal tissues from HIPED for TJP2 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (10.1), Nasal epithelium (9.8), Platelet (6.4), and Cervix (6.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for TJP2 Gene

Protein tissue co-expression partners for TJP2 Gene

NURSA nuclear receptor signaling pathways regulating expression of TJP2 Gene:


SOURCE GeneReport for Unigene cluster for TJP2 Gene:


mRNA Expression by UniProt/SwissProt for TJP2 Gene:

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.
genes like me logo Genes that share expression patterns with TJP2: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for TJP2 Gene

Orthologs for TJP2 Gene

This gene was present in the common ancestor of animals.

Orthologs for TJP2 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia TJP2 34 35
  • 99.43 (n)
(Canis familiaris)
Mammalia TJP2 34 35
  • 89.99 (n)
(Bos Taurus)
Mammalia ZO2 35
  • 89 (a)
(Rattus norvegicus)
Mammalia Tjp2 34
  • 84.76 (n)
(Mus musculus)
Mammalia Tjp2 34 16 35
  • 84.22 (n)
(Monodelphis domestica)
Mammalia TJP2 35
  • 80 (a)
(Ornithorhynchus anatinus)
Mammalia TJP2 35
  • 60 (a)
(Gallus gallus)
Aves TJP2 34 35
  • 73.58 (n)
(Anolis carolinensis)
Reptilia TJP2 35
  • 76 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia tjp2 34
  • 67.27 (n)
Str.14957 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.4830 34
(Danio rerio)
Actinopterygii tjp2a 34 35
  • 60.68 (n)
tjp2b 35
  • 57 (a)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.5876 34
fruit fly
(Drosophila melanogaster)
Insecta pyd 35
  • 15 (a)
(Caenorhabditis elegans)
Secernentea zoo-1 35
  • 24 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 38 (a)
Species where no ortholog for TJP2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for TJP2 Gene

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

Paralogs for TJP2 Gene

Paralogs for TJP2 Gene

genes like me logo Genes that share paralogs with TJP2: view

Variants for TJP2 Gene

Sequence variations from dbSNP and Humsavar for TJP2 Gene

SNP ID Clin Chr 09 pos Sequence Context AA Info Type
rs121918299 Familial hypercholanemia (FHCA) [MIM:607748], Pathogenic 69,216,367(+) TGCAG(C/T)GTCCG reference, missense
rs587777518 Pathogenic 69,221,310(+) ACCGG(-/GCCT)ACGAC reference, frameshift-variant
rs587777519 Pathogenic 69,221,429(+) AGCCC(-/C)AGCCC reference, frameshift-variant
rs587777520 Pathogenic 69,228,022(+) GGGTG(-/C)GACAC reference, frameshift-variant
rs587777521 Pathogenic 69,236,947(+) TTCTC(A/G)GAGCT splice-acceptor-variant

Structural Variations from Database of Genomic Variants (DGV) for TJP2 Gene

Variant ID Type Subtype PubMed ID
nsv957725 CNV deletion 24416366
nsv951523 CNV deletion 24416366
nsv831610 CNV gain 17160897
nsv824940 CNV loss 20364138
nsv821495 CNV deletion 20802225
nsv6550 CNV deletion 18451855
nsv614553 CNV loss 21841781
nsv614552 CNV gain 21841781
nsv614550 CNV gain 21841781
nsv614548 CNV gain 21841781
nsv525532 CNV loss 19592680
nsv515149 CNV loss 21397061
nsv512102 CNV loss 21212237
nsv511419 CNV loss 21212237
nsv508550 CNV deletion 20534489
nsv475470 CNV novel sequence insertion 20440878
nsv466397 CNV gain 19166990
nsv416623 CNV insertion 16902084
nsv416127 CNV deletion 16902084
nsv1151110 CNV deletion 26484159
nsv1146502 CNV deletion 26484159
nsv1132204 CNV deletion 24896259
nsv1124433 CNV deletion 24896259
nsv1075246 CNV deletion 25765185
nsv1073474 CNV deletion 25765185
nsv1049943 CNV gain 25217958
esv994868 CNV insertion 20482838
esv8226 CNV loss 19470904
esv6281 CNV loss 19470904
esv4666 CNV loss 18987735
esv3891679 CNV gain 25118596
esv3891678 CNV gain 25118596
esv3620554 CNV loss 21293372
esv3620552 CNV loss 21293372
esv3576657 CNV gain 25503493
esv3544881 CNV deletion 23714750
esv3544880 CNV deletion 23714750
esv3434748 CNV insertion 20981092
esv3365713 CNV insertion 20981092
esv3271 CNV loss 18987735
esv2789 CNV loss 18987735
esv275313 CNV loss 21479260
esv2738534 CNV deletion 23290073
esv2738533 CNV deletion 23290073
esv2738532 CNV deletion 23290073
esv2677043 CNV deletion 23128226
esv2661677 CNV deletion 23128226
esv2559913 CNV deletion 19546169
esv2469253 CNV deletion 19546169
esv2466554 CNV deletion 19546169
esv2388683 CNV deletion 18987734
esv2360364 CNV deletion 18987734
esv22861 CNV gain 19812545
esv1984160 CNV deletion 18987734
esv1115137 CNV insertion 17803354
esv1026000 CNV deletion 17803354
esv1005385 CNV deletion 20482838
dgv7666n100 CNV gain 25217958
dgv7665n100 CNV gain 25217958
dgv486e215 CNV deletion 23714750
dgv4065n106 CNV deletion 24896259
dgv4064n106 CNV deletion 24896259
dgv38e209 CNV deletion 24192839
dgv2155e212 CNV loss 25503493
dgv2154e212 CNV gain 25503493
dgv2153e212 CNV gain 25503493
dgv2152e212 CNV loss 25503493
dgv137n16 CNV deletion 17901297
dgv12741n54 CNV gain 21841781
dgv12740n54 CNV gain+loss 21841781
dgv12739n54 CNV gain 21841781
dgv1221n67 CNV loss 20364138

Variation tolerance for TJP2 Gene

Residual Variation Intolerance Score: 71.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 8.19; 84.84% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for TJP2 Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TJP2 Gene

Disorders for TJP2 Gene

MalaCards: The human disease database

(11) MalaCards diseases for TJP2 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
hypercholanemia, familial
  • familial hypercholanemia
cholestasis, progressive familial intrahepatic 4
  • 3-beta-hydroxy-delta-5-c27-steroid oxidoreductase deficiency
deafness, autosomal dominant 51
  • autosomal dominant nonsyndromic deafness 51
cholestasis, progressive familial intrahepatic 2
  • cholestasis, progressive familial intrahepatic, 2
dfna51 nonsyndromic hearing loss and deafness
  • deafness, autosomal dominant 51
- elite association - COSMIC cancer census association via MalaCards
Search TJP2 in MalaCards View complete list of genes associated with diseases


  • Cholestasis, progressive familial intrahepatic, 4 (PFIC4) [MIM:615878]: A disorder characterized by early onset of cholestasis that progresses to hepatic fibrosis, cirrhosis, and end-stage liver disease before adulthood. {ECO:0000269 PubMed:24614073}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Familial hypercholanemia (FHCA) [MIM:607748]: A disorder characterized by elevated serum bile acid concentrations, itching, and fat malabsorption. {ECO:0000269 PubMed:12704386}. Note=The disease may be caused by mutations affecting distinct genetic loci, including the gene represented in this entry.

Relevant External Links for TJP2

Genetic Association Database (GAD)
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with TJP2: view

No data available for Genatlas for TJP2 Gene

Publications for TJP2 Gene

  1. Complex inheritance of familial hypercholanemia with associated mutations in TJP2 and BAAT. (PMID: 12704386) Carlton V.E.H. … Bull L.N. (Nat. Genet. 2003) 3 4 22 64
  2. Organization and expression of the human zo-2 gene (tjp-2) in normal and neoplastic tissues. (PMID: 11018256) Chlenski A. … Scarpelli D.G. (Biochim. Biophys. Acta 2000) 3 4 22 64
  3. Tight junction protein ZO-2 is differentially expressed in normal pancreatic ducts compared to human pancreatic adenocarcinoma. (PMID: 10360833) Chlenski A. … Scarpelli D.G. (Int. J. Cancer 1999) 3 4 22 64
  4. Zo-2 gene alternative promoters in normal and neoplastic human pancreatic duct cells. (PMID: 10495427) Chlenski A. … Scarpelli D.G. (Int. J. Cancer 1999) 3 4 22 64
  5. The Friedreich ataxia region: characterization of two novel genes and reduction of the critical region to 300 kb. (PMID: 7951235) Duclos F. … Koenig M. (Hum. Mol. Genet. 1994) 2 3 4 64

Products for TJP2 Gene

Sources for TJP2 Gene

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