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Aliases for TJP2 Gene

Aliases for TJP2 Gene

  • Tight Junction Protein 2 2 3 4
  • ZO2 3 4 6
  • 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
  • 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 Symbols for TJP2 Gene

  • DFNA51

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 cholestasis, progressive familial intrahepatic 4 and cholestasis, progressive familial intrahepatic 2. Among its related pathways are Signaling by GPCR and Adhesion. GO annotations related to this gene include guanylate kinase activity. 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

Genomic Location for TJP2 Gene

Start:
69,099,959 bp from pter
End:
69,255,208 bp from pter
Size:
155,250 bases
Orientation:
Plus strand

Genomic View for TJP2 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for TJP2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TJP2 Gene

Regulatory Elements for TJP2 Gene

Proteins for TJP2 Gene

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

    Protein Symbol:
    Q9UDY2-ZO2_HUMAN
    Recommended name:
    Tight junction protein ZO-2
    Protein Accession:
    Q9UDY2
    Secondary Accessions:
    • A2A3H9
    • B7Z2R8
    • B7Z7T6
    • F5H301
    • F5H886
    • Q15883
    • Q5VXL0
    • Q5VXL1
    • Q8N756
    • Q8NI14
    • Q99839
    • Q9UDY0
    • Q9UDY1

    Protein attributes for TJP2 Gene

    Size:
    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.
    SequenceCaution:
    • 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

  • Modification sites at PhosphoSitePlus
  • Ubiquitination at Lys1016

No data available for DME Specific Peptides for TJP2 Gene

Domains for TJP2 Gene

Suggested Antigen Peptide Sequences for TJP2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9UDY2

UniProtKB/Swiss-Prot:

ZO2_HUMAN
Domain:
  • Contains 1 guanylate kinase-like domain.:
    • Q9UDY2
  • Contains 3 PDZ (DHR) domains.:
    • Q9UDY2
  • Contains 1 SH3 domain.:
    • Q9UDY2
Family:
  • Belongs to the MAGUK family.:
    • Q9UDY2
genes like me logo Genes that share domains with TJP2: view

No data available for Gene Families for TJP2 Gene

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:0008022 protein C-terminus binding IEA --
GO:0019904 protein domain specific binding IPI 23885123
GO:0030674 protein binding, bridging IDA 23885123
genes like me logo Genes that share ontologies with TJP2: view
genes like me logo Genes that share phenotypes with TJP2: view

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting 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

COMPARTMENTS
Jensen Localization Image for TJP2 Gene COMPARTMENTS Subcellular localization image for TJP2 gene
Compartment Confidence
plasma membrane 5
cytosol 4
nucleus 4
cytoskeleton 2

Gene Ontology (GO) - Cellular Components for TJP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005654 nucleoplasm TAS --
GO:0005737 cytoplasm IDA --
GO:0005829 cytosol TAS --
GO:0005886 plasma membrane TAS --
GO:0005912 adherens junction IEA --
genes like me logo Genes that share ontologies with TJP2: view

Pathways for TJP2 Gene

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

Gene Ontology (GO) - Biological Process for TJP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006915 apoptotic process TAS --
GO:0006921 cellular component disassembly involved in execution phase of apoptosis TAS --
GO:0010033 response to organic substance IEA --
GO:0012501 programmed cell death TAS --
GO:0035329 hippo signaling TAS --
genes like me logo Genes that share ontologies with TJP2: view

Compounds for TJP2 Gene

(4) Novoseek inferred chemical compound relationships for TJP2 Gene

Compound -log(P) Hits PubMed IDs
guanylate 55.8 4
calcium 12.7 3
atp 0 3
tyrosine 0 3
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: - - - - - - - - - - - - - - - - - -
SP9:
SP10:
SP11: - - - - - -
SP12:
SP13: - - - - - - - - -
SP14:
SP15:
SP16:

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:
SP6:
SP7:
SP8: - - - - - - - - - - - - - - - - - - - - -
SP9: - - - - -
SP10: - - - - - - -
SP11:
SP12:
SP13: - - - - - - - - - -
SP14:
SP15:
SP16:

Relevant External Links for TJP2 Gene

GeneLoc Exon Structure for
TJP2
ECgene alternative splicing isoforms for
TJP2

Expression for TJP2 Gene

mRNA expression in normal human tissues for TJP2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression 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

Q9UDY2-ZO2_HUMAN
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 expressions with TJP2: view

No data available for 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
chimpanzee
(Pan troglodytes)
Mammalia TJP2 35
  • 99.43 (n)
  • 99.43 (a)
TJP2 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia ZO2 36
  • 89 (a)
OneToOne
dog
(Canis familiaris)
Mammalia TJP2 35
  • 89.99 (n)
  • 90.85 (a)
TJP2 36
  • 89 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Tjp2 35
  • 84.22 (n)
  • 87.2 (a)
Tjp2 16
Tjp2 36
  • 87 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia TJP2 36
  • 80 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia TJP2 36
  • 60 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Tjp2 35
  • 84.76 (n)
  • 87.51 (a)
chicken
(Gallus gallus)
Aves TJP2 35
  • 73.58 (n)
  • 78.82 (a)
TJP2 36
  • 77 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia TJP2 36
  • 76 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.4830 35
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.14957 35
tjp2 35
  • 67.27 (n)
  • 69.57 (a)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.5876 35
zebrafish
(Danio rerio)
Actinopterygii tjp2a 35
  • 60.68 (n)
  • 61.72 (a)
tjp2a 36
  • 57 (a)
OneToMany
tjp2b 36
  • 57 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta pyd 36
  • 15 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea zoo-1 36
  • 24 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 38 (a)
OneToMany
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

ENSEMBL:
Gene Tree for TJP2 (if available)
TreeFam:
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 MAF
rs4558 -- 69,254,994(+) CATAA(A/T)TTTGG utr-variant-3-prime
rs867346 -- 69,196,182(+) GAAGG(C/T)ACAAT intron-variant
rs884428 -- 69,196,282(+) CTTTT(A/T)ACTTG intron-variant
rs884429 -- 69,196,330(+) TGTCC(A/T)TTCTG intron-variant
rs946540 -- 69,187,403(-) GACAA(C/G)ACAAA intron-variant

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

Relevant External Links for TJP2 Gene

HapMap Linkage Disequilibrium report
TJP2
Human Gene Mutation Database (HGMD)
TJP2

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

Disorders for TJP2 Gene

(1) OMIM Diseases for TJP2 Gene (607709)

UniProtKB/Swiss-Prot

ZO2_HUMAN
  • 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.
  • 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.

(5) Novoseek inferred disease relationships for TJP2 Gene

Disease -log(P) Hits PubMed IDs
adenocarcinoma 13.7 4
breast cancer 0 1
tumors 0 3
carcinoma 0 1
cancer 0 1

Relevant External Links for TJP2

Genetic Association Database (GAD)
TJP2
genes like me logo Genes that share disorders with TJP2: view

Publications for TJP2 Gene

  1. 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 23
  2. 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 23
  3. 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 23
  4. 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
  5. 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 23

Products for TJP2 Gene

  • Addgene plasmids for TJP2

Sources for TJP2 Gene

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