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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 Blood-Brain Barrier and Immune Cell Transmigration: VCAM-1/CD106 Signaling Pathways and Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases. 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 CIViC summary , 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
GH09G069168 2 FANTOM5 Ensembl ENCODE dbSUPER 49.2 +54.3 54335 14.5 HDGF FOXA2 PKNOX1 CREB3L1 WRNIP1 ZFP64 ARID4B SIN3A DMAP1 YY1 TJP2 PGM5 GC09P069204
GH09G069185 1.5 Ensembl ENCODE dbSUPER 32 +66.6 66564 4.1 PKNOX1 FOXA2 ATF1 ARNT TCF12 GATA2 SP5 NCOA1 REST PPARG TJP2 PGM5 GC09P069204
GH09G069128 1.4 Ensembl ENCODE dbSUPER 26.1 +9.7 9668 5.2 HDAC1 PKNOX1 ARID4B SIN3A ZSCAN9 RAD21 FOS MIXL1 HMG20B SP5 TJP2 FXN PGM5 GC09P069204
GH09G069153 1.3 ENCODE dbSUPER 26.1 +33.6 33576 3.2 FOXA2 PKNOX1 WRNIP1 ARID4B SIN3A DMAP1 YY1 ZNF263 SP3 SP5 TJP2 PRKACG GC09P069204
GH09G069190 1 ENCODE dbSUPER 32.9 +69.9 69910 1.3 HDAC1 SOX13 CTCF ATF1 MLX THRB RAD21 YY1 TEAD3 NR2F6 TJP2 GC09P069204
- 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
ENSR00000235558 536 2001 PKNOX1 MLX ZFP64 ARID4B DMAP1 ZNF48 ETS1 GLIS2 FOS ZNF263

Genomic Location for TJP2 Gene

Chromosome:
9
Start:
69,121,264 bp from pter
End:
69,255,208 bp from pter
Size:
133,945 bases
Orientation:
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:
    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. Interacts with USP53 (via the C-terminal region) (By similarity).
    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

Post-translational modifications for TJP2 Gene

  • Ubiquitination at isoforms=6, 7, 31016
  • Modification sites at PhosphoSitePlus

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

Q9UDY2

UniProtKB/Swiss-Prot:

ZO2_HUMAN :
  • Belongs to the MAGUK family.
Family:
  • 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: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

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

CRISPR 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

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 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:0005829 cytosol TAS --
GO:0005886 plasma membrane TAS --
GO:0005911 cell-cell junction IEA --
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

Activates:
Inactivates:

Gene Ontology (GO) - Biological Process for TJP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0010033 response to organic substance IEA --
GO:0035329 hippo signaling TAS --
GO:0046037 GMP metabolic process IEA --
GO:0046710 GDP metabolic process IEA --
GO:0050892 intestinal absorption 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:

CRISPR 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: - - - - - - - - - - - - - - - - - -
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 from GTEx, Illumina, BioGPS, and CGAP 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:

TJP2

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.

Evidence on tissue expression from TISSUES for TJP2 Gene

  • Nervous system(4.9)
  • Blood(4.5)
  • Liver(4.5)
  • Muscle(4.2)
  • Pancreas(4.2)
  • Intestine(3.5)
  • Kidney(2.6)
  • Heart(2.5)
  • Lung(2.4)
  • Eye(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for TJP2 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • lymphatic
  • nervous
  • reproductive
  • skeletal muscle
  • skeleton
  • urinary
Organs:
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • ear
  • eye
  • head
  • inner ear
  • jaw
  • mandible
  • maxilla
  • middle ear
  • mouth
  • outer ear
  • salivary gland
  • skull
  • tooth
Thorax:
  • breast
  • chest wall
  • esophagus
  • heart
  • heart valve
  • rib
  • rib cage
Abdomen:
  • abdominal wall
  • biliary tract
  • gallbladder
  • intestine
  • kidney
  • large intestine
  • liver
  • pancreas
  • small intestine
  • spleen
  • stomach
Pelvis:
  • testicle
Limb:
  • arm
  • digit
  • femur
  • finger
  • foot
  • forearm
  • hand
  • lower limb
  • nail
  • radius
  • shin
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
General:
  • blood vessel
  • coagulation system
  • peripheral nerve
  • peripheral nervous system
  • skin
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
chimpanzee
(Pan troglodytes)
Mammalia TJP2 34 35
  • 99.43 (n)
dog
(Canis familiaris)
Mammalia TJP2 34 35
  • 89.99 (n)
cow
(Bos Taurus)
Mammalia ZO2 35
  • 89 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Tjp2 34
  • 84.76 (n)
mouse
(Mus musculus)
Mammalia Tjp2 34 16 35
  • 84.22 (n)
oppossum
(Monodelphis domestica)
Mammalia TJP2 35
  • 80 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia TJP2 35
  • 60 (a)
OneToOne
chicken
(Gallus gallus)
Aves TJP2 34 35
  • 73.58 (n)
lizard
(Anolis carolinensis)
Reptilia TJP2 35
  • 76 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia tjp2 34
  • 67.27 (n)
Str.14957 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.4830 34
zebrafish
(Danio rerio)
Actinopterygii tjp2a 34 35
  • 60.68 (n)
tjp2b 35
  • 57 (a)
OneToMany
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.5876 34
fruit fly
(Drosophila melanogaster)
Insecta pyd 35
  • 15 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea zoo-1 35
  • 24 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 38 (a)
OneToMany
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

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
rs121918299 Pathogenic, Familial hypercholanemia (FHCA) [MIM:607748] 69,216,367(+) TGCAG(C/T)GTCCG reference, missense
rs1057518679 Pathogenic 69,227,797(+) CATTT(-/T)CTCCA reference, frameshift-variant
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

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

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

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)
TJP2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
TJP2

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

UniProtKB/Swiss-Prot

ZO2_HUMAN
  • 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)
TJP2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
TJP2
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

  • Addgene plasmids for TJP2

Sources for TJP2 Gene

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