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Aliases for TJP3 Gene

Aliases for TJP3 Gene

  • Tight Junction Protein 3 2 3 4 5
  • Zonula Occludens Protein 3 3 4
  • Zona Occludens Protein 3 3 4
  • ZO3 3 4
  • Tight Junction Protein 3 (Zona Occludens 3) 3
  • Tight Junction Protein ZO-3 3
  • Zona Occludens 3 2
  • ZO-3 3

External Ids for TJP3 Gene

Previous GeneCards Identifiers for TJP3 Gene

  • GC19P003820
  • GC19P003648
  • GC19P003679
  • GC19P003659
  • GC19P003493

Summaries for TJP3 Gene

Entrez Gene Summary for TJP3 Gene

  • The protein encoded by this gene is a member of the membrane-associated guanylate kinase-like (MAGUK) protein family which is characterized by members having multiple PDZ domains, a single SH3 domain, and a single guanylate kinase-like (GUK)-domain. In addition, members of the zonula occludens protein subfamily have an acidic domain, a basic arginine-rich region, and a proline-rich domain. The protein encoded by this gene plays a role in the linkage between the actin cytoskeleton and tight-junctions and also sequesters cyclin D1 at tight junctions during mitosis. Alternative splicing results in multiple transcript variants encoding distinct isoforms. This gene has a partial pseudogene on chromosome 1. [provided by RefSeq, May 2012]

GeneCards Summary for TJP3 Gene

TJP3 (Tight Junction Protein 3) is a Protein Coding gene. Among its related pathways are Development Slit-Robo signaling and Cytoskeletal Signaling. An important paralog of this gene is TJP1.

UniProtKB/Swiss-Prot for TJP3 Gene

  • TJP1, TJP2, and TJP3 are closely related scaffolding proteins that link tight junction (TJ) transmembrane proteins such as claudins, junctional adhesion molecules, and occludin to the actin cytoskeleton (PubMed:16129888). The tight junction acts to limit movement of substances through the paracellular space and as a boundary between the compositionally distinct apical and basolateral plasma membrane domains of epithelial and endothelial cells. Binds and recruits PATJ to tight junctions where it connects and stabilizes apical and lateral components of tight junctions (PubMed:16129888). Promotes cell-cycle progression through the sequestration of cyclin D1 (CCND1) at tight junctions during mitosis which prevents CCND1 degradation during M-phase and enables S-phase transition (PubMed:21411630). With TJP1 and TJP2, participates to the junctional retention and stability of the transcription factor DBPA, but is not involved in its shuttling to the nucleus (By similarity). Contrary to TJP2, TJP3 is dispensable for individual viability, embryonic development, epithelial differentiation, and the establishment of TJs, at least in the laboratory environment (By similarity).

Gene Wiki entry for TJP3 Gene

Additional gene information for TJP3 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TJP3 Gene

Genomics for TJP3 Gene

GeneHancer (GH) Regulatory Elements for TJP3 Gene

Promoters and enhancers for TJP3 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH19J003707 Enhancer 1.4 Ensembl ENCODE dbSUPER 650.7 +1.3 1295 3.2 CLOCK FOXA2 MLX ZFP64 ARID4B SIN3A DMAP1 YY1 SLC30A9 SP5 TJP3 PIP5K1C GC19P003720
GH19J003706 Enhancer 0.9 ENCODE 650.7 -1.9 -1871 0.2 HDGF ATF1 ARNT ZNF2 YY1 ZNF121 ZNF213 E2F8 ARID2 ZNF143 GC19P003704 TJP3 CHAF1A ENSG00000267769
GH19J003719 Promoter/Enhancer 2 Ensembl ENCODE dbSUPER 0.4 +13.0 12984 4.8 HDGF PKNOX1 ARNT NEUROD1 SIN3A ZNF2 YY1 ZNF766 E2F8 ZNF207 GC19P003720 ZNF77 CACTIN ZNF555 TLE2 GNA11 MRPL54 ZNF554 HDGFL2 APBA3
GH19J003711 Enhancer 0.8 ENCODE dbSUPER 0.7 +4.5 4472 2.4 ESRRA SMARCC1 RFX1 ZBTB8A ZIC2 SMARCB1 SP1 ZNF217 CTBP1 GLIS1 FSD1 TMIGD2 PIP5K1C TJP3 GC19P003720
GH19J003725 Enhancer 0.9 ENCODE dbSUPER 0.4 +17.9 17905 1.5 BCOR PKNOX1 ZBTB6 SIN3A ZMYM3 ZIC2 ZNF121 PRDM10 MAZ SP2 MRPL54 APBA3 RAX2 ZFR2 GC19P003720 TJP3 GC19P003750
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around TJP3 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the TJP3 gene promoter:
  • AP-2alphaA
  • AP-2alpha isoform 4
  • AP-2alpha isoform 3
  • AP-2alpha isoform 2
  • AP-2alpha
  • AP-1
  • c-Jun
  • ATF-2
  • c-Fos

Genomic Locations for TJP3 Gene

Genomic Locations for TJP3 Gene
chr19:3,708,109-3,750,813
(GRCh38/hg38)
Size:
42,705 bases
Orientation:
Plus strand
chr19:3,708,107-3,750,811
(GRCh37/hg19)
Size:
42,705 bases
Orientation:
Plus strand

Genomic View for TJP3 Gene

Genes around TJP3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TJP3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TJP3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TJP3 Gene

Proteins for TJP3 Gene

  • Protein details for TJP3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O95049-ZO3_HUMAN
    Recommended name:
    Tight junction protein ZO-3
    Protein Accession:
    O95049
    Secondary Accessions:
    • A6NFP3
    • B3KR73
    • B3KXZ0
    • B4E2W6
    • F5H2X0
    • F5H4S9
    • K7EK22
    • Q32N01

    Protein attributes for TJP3 Gene

    Size:
    919 amino acids
    Molecular mass:
    101397 Da
    Quaternary structure:
    • Interacts with occludin OCLN, claudins and TPJ1 (By similarity). Interacts with PATJ (By similarity). Interacts with UBN1 (PubMed:20434232). Interacts with FASLG (PubMed:19807924). Interacts with CCND1 (PubMed:21411630).
    SequenceCaution:
    • Sequence=AAC72274.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=EAW69293.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for TJP3 Gene

    Alternative splice isoforms for TJP3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TJP3 Gene

Post-translational modifications for TJP3 Gene

Other Protein References for TJP3 Gene

No data available for DME Specific Peptides for TJP3 Gene

Domains & Families for TJP3 Gene

Gene Families for TJP3 Gene

Suggested Antigen Peptide Sequences for TJP3 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

O95049

UniProtKB/Swiss-Prot:

ZO3_HUMAN :
  • Belongs to the MAGUK family.
Family:
  • Belongs to the MAGUK family.
genes like me logo Genes that share domains with TJP3: view

Function for TJP3 Gene

Molecular function for TJP3 Gene

UniProtKB/Swiss-Prot Function:
TJP1, TJP2, and TJP3 are closely related scaffolding proteins that link tight junction (TJ) transmembrane proteins such as claudins, junctional adhesion molecules, and occludin to the actin cytoskeleton (PubMed:16129888). The tight junction acts to limit movement of substances through the paracellular space and as a boundary between the compositionally distinct apical and basolateral plasma membrane domains of epithelial and endothelial cells. Binds and recruits PATJ to tight junctions where it connects and stabilizes apical and lateral components of tight junctions (PubMed:16129888). Promotes cell-cycle progression through the sequestration of cyclin D1 (CCND1) at tight junctions during mitosis which prevents CCND1 degradation during M-phase and enables S-phase transition (PubMed:21411630). With TJP1 and TJP2, participates to the junctional retention and stability of the transcription factor DBPA, but is not involved in its shuttling to the nucleus (By similarity). Contrary to TJP2, TJP3 is dispensable for individual viability, embryonic development, epithelial differentiation, and the establishment of TJs, at least in the laboratory environment (By similarity).
UniProtKB/Swiss-Prot Induction:
Exhibits enhanced expression in matured epithelial layers (PubMed:23608536). Apical leptin, Staphylococcus aureus alpha-toxin and Pseudomonas aeruginosa acyl-homoserine lactone 3O-C12-HSl lower expression levels, altering junctional integrity in intestinal cells (PubMed:20434232, PubMed:22354024, PubMed:24314862).
GENATLAS Biochemistry:
tight junction (zona occludens 3) protein ZO-3

Gene Ontology (GO) - Molecular Function for TJP3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 12021270
genes like me logo Genes that share ontologies with TJP3: view
genes like me logo Genes that share phenotypes with TJP3: view

Animal Models for TJP3 Gene

MGI Knock Outs for TJP3:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TJP3

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for TJP3 Gene

Localization for TJP3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TJP3 Gene

Cell membrane; Peripheral membrane protein; Cytoplasmic side. Cell junction, tight junction. Nucleus. Note=Exhibits predominant nuclear expression in proliferating cells but is exclusively junctionally expressed after confluence is reached (PubMed:23608536). Shows an epithelial-specific tight junction localization in a TJP1/TJP2-dependent fashion (By similarity). {ECO:0000250 UniProtKB:Q9QXY1, ECO:0000269 PubMed:23608536}.

Subcellular locations from

COMPARTMENTS
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 TJP3 gene
Compartment Confidence
nucleus 5
plasma membrane 4
cytosol 3
cytoskeleton 2

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cell Junctions (4)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for TJP3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA,IEA 18823282
GO:0005886 plasma membrane IEA --
GO:0005923 bicellular tight junction IDA 18823282
GO:0016020 membrane IEA --
GO:0030054 cell junction IEA --
genes like me logo Genes that share ontologies with TJP3: view

Pathways & Interactions for TJP3 Gene

genes like me logo Genes that share pathways with TJP3: view

Pathways by source for TJP3 Gene

1 KEGG pathway for TJP3 Gene
2 GeneGo (Thomson Reuters) pathways for TJP3 Gene
2 Cell Signaling Technology pathways for TJP3 Gene

Interacting Proteins for TJP3 Gene

Gene Ontology (GO) - Biological Process for TJP3 Gene

None

No data available for SIGNOR curated interactions for TJP3 Gene

Drugs & Compounds for TJP3 Gene

(1) Drugs for TJP3 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(1) Additional Compounds for TJP3 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with TJP3: view

Transcripts for TJP3 Gene

mRNA/cDNA for TJP3 Gene

Unigene Clusters for TJP3 Gene

Tight junction protein 3:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TJP3

Alternative Splicing Database (ASD) splice patterns (SP) for TJP3 Gene

ExUns: 1a · 1b ^ 2a · 2b ^ 3a · 3b ^ 4a · 4b ^ 5a · 5b ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16a · 16b ^ 17 ^ 18 ^ 19 ^ 20a ·
SP1: - - -
SP2: - - -
SP3: - - - - -
SP4:
SP5: - -
SP6: - - -

ExUns: 20b ^ 21 ^ 22
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:

Relevant External Links for TJP3 Gene

GeneLoc Exon Structure for
TJP3
ECgene alternative splicing isoforms for
TJP3

Expression for TJP3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for TJP3 Gene

mRNA differential expression in normal tissues according to GTEx for TJP3 Gene

This gene is overexpressed in Colon - Transverse (x11.3), Esophagus - Mucosa (x5.7), Small Intestine - Terminal Ileum (x5.0), and Stomach (x4.5).

Protein differential expression in normal tissues from HIPED for TJP3 Gene

This gene is overexpressed in Salivary gland (18.3), Urine (9.2), Rectum (8.9), Lung (7.5), and Pancreas (6.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for TJP3 Gene



NURSA nuclear receptor signaling pathways regulating expression of TJP3 Gene:

TJP3

SOURCE GeneReport for Unigene cluster for TJP3 Gene:

Hs.25527

Evidence on tissue expression from TISSUES for TJP3 Gene

  • Liver(4.2)
  • Stomach(4.2)
  • Intestine(2.1)
genes like me logo Genes that share expression patterns with TJP3: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for TJP3 Gene

Orthologs for TJP3 Gene

This gene was present in the common ancestor of animals.

Orthologs for TJP3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia TJP3 34 33
  • 98.71 (n)
OneToOne
cow
(Bos Taurus)
Mammalia ZO3 34
  • 85 (a)
OneToOne
TJP3 33
  • 84.41 (n)
dog
(Canis familiaris)
Mammalia TJP3 34 33
  • 84.39 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Tjp3 16 34 33
  • 80.02 (n)
rat
(Rattus norvegicus)
Mammalia Tjp3 33
  • 79.87 (n)
oppossum
(Monodelphis domestica)
Mammalia TJP3 34
  • 73 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 68 (a)
OneToMany
-- 34
  • 57 (a)
OneToMany
chicken
(Gallus gallus)
Aves TJP3 34 33
  • 67.11 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia TJP3 34
  • 56 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia tjp3 33
  • 60.34 (n)
Str.11430 33
African clawed frog
(Xenopus laevis)
Amphibia MGC52795 33
zebrafish
(Danio rerio)
Actinopterygii tjp3 34
  • 35 (a)
OneToOne
Dr.21038 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.12768 33
fruit fly
(Drosophila melanogaster)
Insecta pyd 34
  • 12 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea zoo-1 34
  • 21 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 35 (a)
OneToMany
Species where no ortholog for TJP3 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 TJP3 Gene

ENSEMBL:
Gene Tree for TJP3 (if available)
TreeFam:
Gene Tree for TJP3 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for TJP3: view image

Paralogs for TJP3 Gene

(5) SIMAP similar genes for TJP3 Gene using alignment to 4 proteins:

  • ZO3_HUMAN
  • K7EJ86_HUMAN
  • K7ESC0_HUMAN
  • Q2VPE5_HUMAN

Pseudogenes.org Pseudogenes for TJP3 Gene

genes like me logo Genes that share paralogs with TJP3: view

Variants for TJP3 Gene

Sequence variations from dbSNP and Humsavar for TJP3 Gene

SNP ID Clin Chr 19 pos Variation AA Info Type
rs1000076677 -- 3,742,489(+) C/T intron_variant
rs1000117214 -- 3,721,555(+) G/C genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant
rs1000383831 -- 3,740,491(+) C/T intron_variant
rs1000397544 -- 3,745,752(+) A/G intron_variant
rs1000457399 -- 3,748,877(+) G/C/T intron_variant

Structural Variations from Database of Genomic Variants (DGV) for TJP3 Gene

Variant ID Type Subtype PubMed ID
esv1006960 CNV deletion 20482838
esv1650113 CNV insertion 17803354
esv2656538 CNV deletion 23128226
esv2656967 CNV deletion 23128226
esv2664915 CNV deletion 23128226
esv2669742 CNV deletion 23128226
esv2675808 CNV deletion 23128226
esv2677184 CNV deletion 23128226
esv2717968 CNV deletion 23290073
esv3555887 CNV deletion 23714750
esv3643466 CNV loss 21293372
esv3643467 CNV loss 21293372
esv3643468 CNV loss 21293372
esv3643469 CNV loss 21293372
nsv470114 CNV loss 18288195
nsv509718 CNV insertion 20534489
nsv513509 CNV insertion 21212237
nsv956597 CNV deletion 24416366

Variation tolerance for TJP3 Gene

Residual Variation Intolerance Score: 99.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 9.81; 89.54% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for TJP3 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
TJP3

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TJP3 Gene

Disorders for TJP3 Gene

Additional Disease Information for TJP3

No disorders were found for TJP3 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for TJP3 Gene

Publications for TJP3 Gene

  1. Tight function zonula occludens-3 regulates cyclin D1-dependent cell proliferation. (PMID: 21411630) Capaldo CT … Nusrat A (Molecular biology of the cell 2011) 3 4 58
  2. Characterization of the ubinuclein protein as a new member of the nuclear and adhesion complex components (NACos). (PMID: 18823282) Aho S … Gruffat H (Biology of the cell 2009) 3 4 58
  3. Identification of SH3 domain interaction partners of human FasL (CD178) by phage display screening. (PMID: 19807924) Voss M … Janssen O (BMC immunology 2009) 3 4 58
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  5. The DNA sequence and biology of human chromosome 19. (PMID: 15057824) Grimwood J … Lucas SM (Nature 2004) 3 4 58

Products for TJP3 Gene

Sources for TJP3 Gene

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