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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
  • 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 Tight junction and Apoptotic cleavage of cellular proteins. GO annotations related to this gene include protein domain specific binding and protein binding, bridging. An important paralog of this gene is TJP1.

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 Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

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

ENSRs around TJP2 on UCSC Golden Path with GeneCards custom track

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.
    • 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

Proteomics data for TJP2 Gene at MOPED

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:0008022 protein C-terminus binding IEA --
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:

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

Jensen Localization Image for TJP2 Gene COMPARTMENTS Subcellular localization image for TJP2 gene
Compartment Confidence
cytosol 5
nucleus 5
plasma membrane 5
cytoskeleton 2
extracellular 1

Gene Ontology (GO) - Cellular Components for TJP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA --
GO:0005886 plasma membrane TAS --
GO:0005923 bicellular tight junction IDA 22006950
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:0006915 apoptotic process TAS --
GO:0012501 programmed cell death TAS --
GO:0046710 GDP metabolic process TAS 8824195
GO:0050892 intestinal absorption IMP 23885123
GO:0071847 TNFSF11-mediated signaling pathway IEA --
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:

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 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, MOPED, and MaxQB for TJP2 Gene

SOURCE GeneReport for Unigene cluster for TJP2 Gene Hs.50382

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

Protein tissue co-expression partners for TJP2 Gene

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
(Canis familiaris)
Mammalia TJP2 35
  • 89.99 (n)
  • 90.85 (a)
TJP2 36
  • 89 (a)
(Mus musculus)
Mammalia Tjp2 35
  • 84.22 (n)
  • 87.2 (a)
Tjp2 16
Tjp2 36
  • 87 (a)
(Pan troglodytes)
Mammalia TJP2 35
  • 99.43 (n)
  • 99.43 (a)
TJP2 36
  • 99 (a)
(Rattus norvegicus)
Mammalia Tjp2 35
  • 84.76 (n)
  • 87.51 (a)
(Bos Taurus)
Mammalia ZO2 36
  • 89 (a)
(Monodelphis domestica)
Mammalia TJP2 36
  • 80 (a)
(Ornithorhynchus anatinus)
Mammalia TJP2 36
  • 60 (a)
(Gallus gallus)
Aves TJP2 35
  • 73.58 (n)
  • 78.82 (a)
TJP2 36
  • 77 (a)
(Anolis carolinensis)
Reptilia TJP2 36
  • 76 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.14957 35
tjp2 35
  • 67.27 (n)
  • 69.57 (a)
African clawed frog
(Xenopus laevis)
Amphibia Xl.4830 35
(Danio rerio)
Actinopterygii tjp2a 35
  • 60.68 (n)
  • 61.72 (a)
tjp2a 36
  • 57 (a)
tjp2b 36
  • 57 (a)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.5876 35
fruit fly
(Drosophila melanogaster)
Insecta pyd 36
  • 15 (a)
(Caenorhabditis elegans)
Secernentea zoo-1 36
  • 24 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 38 (a)
Species with no ortholog for TJP2:
  • 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
VAR_016004 Familial hypercholanemia (FHCA)
rs2309428 - 69,228,107(+) GAGGA(A/C)CCCCC reference, missense
rs34774441 - 69,236,961(+) CAAAT(A/C/G)GCCAG reference, missense
rs35797487 - 69,237,088(+) TTGTG(C/T)CTGTC reference, missense
rs1049624 - 69,240,047(+) GTCAA(A/C)ACCAT reference, missense

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

Variant ID Type Subtype PubMed ID
nsv466397 CNV Gain 19166990
nsv893416 CNV Gain 21882294
nsv508550 CNV Loss 20534489
nsv6550 CNV Loss 18451855
nsv511419 CNV Loss 21212237
dgv137n16 CNV Deletion 17901297
esv2677043 CNV Deletion 23128226
esv2469253 CNV Deletion 19546169
esv2388683 CNV Deletion 18987734
esv2738532 CNV Deletion 23290073
nsv512102 CNV Loss 21212237
esv3271 CNV Deletion 18987735
esv1005385 CNV Deletion 20482838
esv1026000 CNV Deletion 17803354
esv22861 CNV Gain 19812545
nsv821495 CNV Deletion 20802225
nsv824940 CNV Loss 20364138
esv8226 CNV Loss 19470904
dgv1221n67 CNV Loss 20364138
nsv515149 CNV Loss 21397061
nsv893427 CNV Gain 21882294
esv2559913 CNV Deletion 19546169
esv1984160 CNV Deletion 18987734
esv4666 CNV Deletion 18987735
esv2738533 CNV Deletion 23290073
esv2661677 CNV Deletion 23128226
esv6281 CNV Loss 19470904
nsv416127 CNV Loss 16902084
esv2466554 CNV Deletion 19546169
esv2360364 CNV Deletion 18987734
esv2738534 CNV Deletion 23290073
esv2789 CNV Deletion 18987735
esv275313 CNV Loss 21479260
esv994868 CNV Insertion 20482838
esv1115137 CNV Insertion 17803354
nsv416623 CNV Insertion 16902084
nsv525532 CNV Loss 19592680
nsv831610 CNV Gain 17160897

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)

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

Disorders for TJP2 Gene

MalaCards: The human disease database

(10) 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
  • bile acid synthesis defect, congenital, 1
deafness, autosomal dominant 51
cholestasis, progressive familial intrahepatic 2
  • progressive familial intrahepatic cholestasis type 2
tjp2-related familial hypercholanemia
- 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. 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 67
  2. Genomic duplication and overexpression of TJP2/ZO-2 leads to altered expression of apoptosis genes in progressive nonsyndromic hearing loss DFNA51. (PMID: 20602916) Walsh T. … Avraham K.B. (Am. J. Hum. Genet. 2010) 2 3
  3. Structure of the second PDZ domain from human zonula occludens 2. (PMID: 19342771) Chen H. … Teng M. (Acta Crystallogr. Sect. F Struct. Biol. Cryst. Commun. 2009) 3 23
  4. The tight junction protein ZO-2 mediates proliferation of vascular smooth muscle cells via regulation of Stat1. (PMID: 19380416) Kusch A. … Dumler I. (Cardiovasc. Res. 2009) 3 23
  5. Zonula occludens-1 and -2 are cytosolic scaffolds that regulate the assembly of cellular junctions. (PMID: 19538295) Fanning A.S. … Anderson J.M. (Ann. N. Y. Acad. Sci. 2009) 3 23

Products for TJP2 Gene

Sources for TJP2 Gene