TJP2 Gene (Protein Coding)

Tight Junction Protein 2

GC09P069121
GIFtS:
47
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 duplicati... See more...

Aliases for TJP2 Gene

Aliases for TJP2 Gene

  • Tight Junction Protein 2 2 3 4 5
  • X104 2 3 4
  • ZO2 2 3 4
  • Friedreich Ataxia Region Gene X104 (Tight Junction Protein ZO-2) 2 3
  • Tight Junction Protein ZO-2 3 4
  • Zonula Occludens Protein 2 3 4
  • Zona Occludens 2 2 3
  • Deafness, Autosomal Dominant 51 2
  • Zona Occludens Protein 2 4
  • C9DUPq21.11 3
  • DUP9q21.11 3
  • DFNA51 3
  • PFIC4 3
  • TJP2 5
  • ZO-2 2

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
  • GC09P069099

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 G-Beta Gamma Signaling and Insulin receptor recycling. Gene Ontology (GO) annotations related to this gene include protein domain specific binding and protein binding, bridging. An important paralog of this gene is ENSG00000285130.

UniProtKB/Swiss-Prot Summary for TJP2 Gene

Gene Wiki entry for TJP2 Gene

Additional gene information for TJP2 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for TJP2 Gene

Genomics for TJP2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for TJP2 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
GH09J069168 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 299.3 +54.6 54592 14.5 SP1 MYC NCOR1 ZNF600 IKZF1 SSRP1 JUND ZNF592 CEBPA ATF3 TJP2 HSALNG0071728 PGM5 lnc-PRKACG-2 lnc-FXN-1 HSALNG0071725 ENSG00000285130 FAM189A2
GH09J069118 Promoter/Enhancer 2.3 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 263.5 +0.2 174 4.8 SSRP1 POLR2A ZIC2 YY1 MXD4 ETS1 ZFP64 HOMEZ ZNF217 SIN3A TJP2 lnc-FXN-1 piR-61945-503 PTAR1 PABIR1 MAMDC2 PGM5 ENSG00000285130 HSALNG0071725 FAM189A2
GH09J069203 Promoter/Enhancer 1.4 EPDnew Ensembl ENCODE dbSUPER 267.2 +84.1 84095 2.6 MAFF ZNF316 TEAD3 NFE2 MAFK NFE2L2 NCOA1 MAFG ATF4 MEIS2 TJP2 PRKACG HSALNG0071725 HSALNG0071728 lnc-FXN-1 FAM189A2 ENSG00000285130
GH09J069252 Promoter/Enhancer 0.7 EPDnew Ensembl ENCODE 255 +131.9 131919 1 TJP2 NONHSAG052509.2 piR-50444-475 FAM189A2 ENSG00000285130
GH09J069236 Promoter 0.4 EPDnew 250.1 +116.0 116015 0.1 RBM22 FJ601678-151 TJP2 HSALNG0071725 FAM189A2 ENSG00000285130
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around TJP2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for TJP2

Top Transcription factor binding sites by QIAGEN in the TJP2 gene promoter:
  • AP-1
  • ATF-2
  • c-Jun
  • C/EBPalpha
  • p53

Genomic Locations for TJP2 Gene

Latest Assembly
chr9:69,121,006-69,274,615
(GRCh38/hg38)
Size:
153,610 bases
Orientation:
Plus strand

Previous Assembly
chr9:71,736,180-71,870,124
(GRCh37/hg19 by Entrez Gene)
Size:
133,945 bases
Orientation:
Plus strand

chr9:71,736,209-71,870,124
(GRCh37/hg19 by Ensembl)
Size:
133,916 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 Structure • Gene Density

RefSeq DNA sequence for TJP2 Gene

Proteins for TJP2 Gene

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  • 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; Evidence={ECO:0000305};
    Miscellaneous:
    • [Isoform A1]: Produced by alternative promoter usage.
    • [Isoform A2]: Produced by alternative splicing of isoform A1.
    • [Isoform A3]: Produced by alternative splicing of isoform A1.
    • [Isoform C1]: Produced by alternative promoter usage.
    • [Isoform C2]: Produced by alternative splicing of isoform C1.

    Three dimensional structures from OCA and Proteopedia for TJP2 Gene

    Alternative splice isoforms for TJP2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TJP2 Gene

Protein Expression for TJP2 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for TJP2 Gene

  • Ubiquitination at Lys1016
  • Modification sites at PhosphoSitePlus

Other Protein References for TJP2 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibodies for research

  • Abcam antibodies for TJP2

No data available for DME Specific Peptides for TJP2 Gene

Domains & Families for TJP2 Gene

Gene Families for TJP2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for TJP2 Gene

InterPro:
Blocks:
  • SH3 domain signature
  • PDZ/DHR/GLGF domain
  • Guanylate kinase
  • Variant SH3
  • Zona occludens protein family signature
  • Zona occludens protein ZO-2 signature

Suggested Antigen Peptide Sequences for TJP2 Gene

GenScript: Design optimal peptide antigens:
  • Zonula occludens protein 2 (ZO2_HUMAN)

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

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  6. Cell Lines for research

Molecular function for TJP2 Gene

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

Phenotypes From GWAS Catalog for TJP2 Gene

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 IEA,IPI 15975580
GO:0019904 protein domain specific binding IPI 23885123
GO:0030674 protein binding, bridging IDA 23885123
GO:0045296 cadherin binding HDA 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:
  • Tjp2 Tjp2<tm1Whun>

Animal Models for research

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TJP2

Clone products for research

  • Addgene plasmids for TJP2

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 3
extracellular 2
mitochondrion 1
endoplasmic reticulum 1
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

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

Gene Ontology (GO) - Cellular Components for TJP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA,IDA 20868367
GO:0005654 nucleoplasm TAS --
GO:0005829 cytosol TAS --
GO:0005886 plasma membrane IEA,TAS --
GO:0005912 adherens 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

Pathways by source for TJP2 Gene

1 BioSystems pathway for TJP2 Gene
2 KEGG pathways for TJP2 Gene
3 GeneGo (Thomson Reuters) pathways for TJP2 Gene
  • Cell adhesion Gap junctions
  • Cell adhesion Tight junctions
  • Cell adhesion_Endothelial cell contacts by junctional mechanisms
3 Qiagen pathways for TJP2 Gene
  • Epithelial Tight Junctions
  • Sertoli-Sertoli Cell Junction Dynamics
  • Signaling in Gap Junctions
1 Cell Signaling Technology pathway for TJP2 Gene

SIGNOR curated interactions for TJP2 Gene

Inactivates:

Gene Ontology (GO) - Biological Process for TJP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0034109 homotypic cell-cell adhesion IDA 21679692
GO:0035329 hippo signaling TAS --
GO:0035633 maintenance of permeability of blood-brain barrier NAS 30280653
GO:0045216 cell-cell junction organization IBA 21873635
GO:0046037 GMP metabolic process IEA --
genes like me logo Genes that share ontologies with TJP2: view

Drugs & Compounds for TJP2 Gene

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(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

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mRNA/cDNA for TJP2 Gene

12 REFSEQ mRNAs :
21 NCBI additional mRNA sequence :
31 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TJP2

Clone products for research

  • Addgene plasmids for TJP2

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

Expression for TJP2 Gene

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

mRNA expression in normal human tissues for TJP2 Gene
mRNA expression by GTEx for TJP2 GenemRNA expression by BioGPS 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, MaxQB, and MOPED for TJP2 Gene



Protein tissue co-expression partners for TJP2 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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)
  • Liver(4.6)
  • Blood(4.6)
  • Muscle(4.5)
  • Pancreas(4.4)
  • Intestine(3.8)
  • Lung(3)
  • Heart(2.9)
  • Kidney(2.8)
  • Skin(2.5)
  • Eye(2.4)
  • Stomach(2.4)
  • Thyroid gland(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
Regions:
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 for research

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 29 30
  • 99.43 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia TJP2 29 30
  • 89.99 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia ZO2 30
  • 89 (a)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Tjp2 29
  • 84.76 (n)
Mouse
(Mus musculus)
 Mammalia Tjp2 29 16 30
  • 84.22 (n)
 OneToOne
Oppossum
(Monodelphis domestica)
 Mammalia TJP2 30
  • 80 (a)
 OneToOne
Platypus
(Ornithorhynchus anatinus)
 Mammalia TJP2 30
  • 60 (a)
 OneToOne
Chicken
(Gallus gallus)
 Aves TJP2 29 30
  • 73.58 (n)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia TJP2 30
  • 76 (a)
 OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia tjp2 29
  • 67.27 (n)
Str.14957 29
African clawed frog
(Xenopus laevis)
 Amphibia Xl.4830 29
Zebrafish
(Danio rerio)
 Actinopterygii tjp2a 29 30
  • 60.68 (n)
 OneToMany
tjp2b 30
  • 57 (a)
 OneToMany
Rainbow Trout
(Oncorhynchus mykiss)
 Actinopterygii Omy.5876 29
Fruit Fly
(Drosophila melanogaster)
 Insecta pyd 30
  • 15 (a)
 OneToMany
Worm
(Caenorhabditis elegans)
 Secernentea zoo-1 30
  • 24 (a)
 OneToMany
Sea Squirt
(Ciona savignyi)
 Ascidiacea -- 30
  • 38 (a)
 OneToMany
Species where no ortholog for TJP2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for TJP2: view image
Alliance of Genome Resources:
Additional Orthologs for TJP2

Paralogs for TJP2 Gene

Paralogs for TJP2 Gene

(27) SIMAP similar genes for TJP2 Gene using alignment to 5 proteins:

  • ZO2_HUMAN
  • B1AN85_HUMAN
  • B1AN86_HUMAN
  • L8EAC1_HUMAN
  • U3KQJ2_HUMAN
genes like me logo Genes that share paralogs with TJP2: view

Variants for TJP2 Gene

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Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for TJP2 Gene

SNP ID Clinical significance and condition Chr 09 pos Variation AA Info Type
1013333 Uncertain Significance: not provided 69,220,883(+) A/G
NM_004817.4(TJP2):c.343-4A>G 		INTRON
1030844 Pathogenic: Progressive familial intrahepatic cholestasis 4 69,240,105(+) C/T
NM_004817.4(TJP2):c.2524C>T (p.Gln842Ter) 		NONSENSE
1030845 Uncertain Significance: Hypercholanemia, familial 69,221,203(+) G/T
NM_004817.4(TJP2):c.659G>T (p.Ser220Ile) 		MISSENSE
217498 Pathogenic: Progressive familial intrahepatic cholestasis 4 69,254,205(+) TTAGTTCCAGACCCCC
NM_004817.3(TJP2):c.3408_3573del166 (p.Ser1136Argfs)
840186 Pathogenic: not provided 69,228,097(+) ACCAAGAGGACCCCCC
NM_004817.4(TJP2):c.1438_1454del (p.Gln480fs) 		FRAMESHIFT

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for TJP2 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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)

Additional Variant Information for TJP2 Gene

Human Gene Mutation Database (HGMD)
TJP2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
TJP2
Leiden Open Variation Database (LOVD)
TJP2

SNP Genotyping and Copy Number Assays for research

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

Disorders for TJP2 Gene

MalaCards: The human disease database

(22) MalaCards diseases for TJP2 Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

- 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
  • 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 variants 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 variants affecting the gene represented in this entry.

Additional Disease Information for TJP2

Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
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 VE … Bull LN (Nature genetics 2003) 3 4 22 72
  2. Mutations in TJP2 cause progressive cholestatic liver disease. (PMID: 24614073) Sambrotta M … Thompson RJ (Nature genetics 2014) 3 4 72
  3. 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 KB (American journal of human genetics 2010) 2 3 72
  4. Organization and expression of the human zo-2 gene (tjp-2) in normal and neoplastic tissues. (PMID: 11018256) Chlenski A … Scarpelli DG (Biochimica et biophysica acta 2000) 3 4 22
  5. Tight junction protein ZO-2 is differentially expressed in normal pancreatic ducts compared to human pancreatic adenocarcinoma. (PMID: 10360833) Chlenski A … Scarpelli DG (International journal of cancer 1999) 3 4 22

ExternalLinks

View latest publications for TJP2 gene in Mastermind

Products for TJP2 Gene

  • Addgene plasmids for TJP2

Sources for TJP2 Gene