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TJP2 (tight junction protein 2 (zona occludens 2))

Written2009-05Lorenza Gonzalez-Mariscal, Erika Garay, Miguel Quiros, Rocio Tapia
Center for Research, Advanced Studies (Cinvestav), Department of Physiology, Biophysics, Neuroscience, Mexico DF, 07360, Mexico

(Note : for Links provided by Atlas : click)

Identity

Alias_namesDFNA51
deafness
Alias_symbol (synonym)ZO-2
X104
ZO2
HGNC (Hugo) TJP2
LocusID (NCBI) 9414
Atlas_Id 44347
Location 9q21.11  [Link to chromosome band 9q21]
Location_base_pair Starts at 71736180 and ends at 71870124 bp from pter ( according to hg19-Feb_2009)  [Mapping TJP2.png]
Local_order Telomeric to FXN gene (9q21.11).
Fusion genes
(updated 2016)
ERBIN (5q12.3) / TJP2 (9q21.11)SRPK1 (6p21.31) / TJP2 (9q21.11)STON2 (14q31.1) / TJP2 (9q21.11)
TJP2 (9q21.11) / ATP2C1 (3q22.1)TJP2 (9q21.11) / FXN (9q21.11)TJP2 (9q21.11) / TMEM38B (9q31.2)

DNA/RNA

 
  Schematic diagram of the TJP2 gene comprising 25 exons (in grey) and transcript variants. The sizes in base pairs of exons (above) and introns (below) are shown. *Indicates the position of the start codons. Exons C and B are expressed from promoter C. These exons are non-coding and translations starts from the ATG located in exon 2. Exon A is transcribed from promoter A. Isoforms C lack 23 aminoacids at the amino terminus in comparison with isoforms A. Exons 20 and 21 are alternatively spliced.
Description TJP2 gene exists as a single copy in the human genome; it contains 25 exons and is predicted to span over approximately more than 90 Kb of the genomic DNA.
Transcription Five isoforms of TJP2 have been identified:
The A1 isoform (CDS: 3570 nt); lacks exons C and B.
The A2 isoform (CDS: 3129 nt); lacks exons C, B, 20 and 21.
The A3 isoform (CDS: 2979 nt); lacks exons C, B, 20, 21, 22 and 23 and exhibits a longer exon 19 (979 vs 213 bp, with a stop codon at bp 313).
The C1 isoform (CDS: 3501 nt); lacks exon A.
The C2 isoform (CDS: 3057 nt); lacks exons A, 20 and 21.
Northern blot analysis done with different probes for exons A and C reveals two TJP2 transcripts of the same size, approximately 4.5 Kb, that respectively correspond to TJP2A and TJP2C.
Pseudogene Not known.

Protein

 
  Isoforms, structure and interactions of TJP2. a) Five isoforms to TJP2 have been reported. A and C isoforms are products of alternative promoter usage. A2 and C2 are consequence of alternative splicing of exons 20 and 21. Translation of A3 ends in exon 19. However in A3 exon 19 has 979 instead of 213 bp and exhibits a stop codon at bp 313. This situation makes isoforms A3 end with a sequence of 33 amino acids that are not present in any of the other TJP2 isoforms. Numbers refer to amino acids. b) TJP2 is a MAGUK protein with three PDZ domains, an SH3 module and a GK domain. Between the first two PDZ domains, a region rich in basic amino acids is found. After the GK domain in C terminus direction, an acidic region and a proline rich domain is present. The last three amino acids at the carboxyl end constitute a PDZ binding motif and the first 23 amino acid residues at the N-terminus are absent in C isoforms. Numbers refer to amino acids. c) TJP2 is a scaffold molecule that interacts with proteins that participate in cell adhesion, signaling and gene transcription. The names of these proteins and their site of interaction in TJP2 are indicated.
Description The full length TJP2 protein consists of 1190 amino acids corresponding to a theoretical molecular weight of 133.958 kDa. This size is 16% smaller than the apparent molecular mass of 160 kDa determined by SDS/PAGE. The high proline content (7.1%) may be responsible for this anomalous electrophoretic migration. The protein contains three PDZ, one SH3 and one GuK domain at its NH2 dlg-like terminal region, followed by a short COOH terminal non dlg-like region that contains an acidic and a proline rich domain. The protein belongs to the MAGUK protein family. At the carboxyl terminal end of TJP2 the type I PDZ binding motif TEL is found. TJP2 is predicted to contain 1 nuclear localization signal (NLS; 106-122 aa) and no exportation signals (NES) following the consensus L/M/IX1-4L/V/IX2-3L/V/IX1-2L/I.
Two isoforms named A and C arise from the activation of different promoters. In the A form the initiation codon located within a unique 5' end 189 bp sequence gives rise to a distinctive 23 aa segment, whereas in the C form the 5' end exhibits a 377 bp sequence that is not translated. In isoforms C translation starts from a codon that corresponds to the second ATG in isoforms A. Isoform A2 is generated by alternative splicing of isoform A1. It lacks amino acids 961-1108.
Isoform A3 is generated by alternative splicing of isoform A1. It lacks amino acids 994-1190 and the sequence from amino acids 961 to 993 differs from isoform A1.
Isoform C2 is generated by alternative splicing of isoform C1. It lacks amino acids 961-1108.
Expression Normal tissue: At the mRNA level the A isoforms are abundant in the heart and brain whereas the C isoforms are expressed at a high level in kidney, pancreas, heart and placenta. In brain and skeletal muscle only the A isoform is detectable, but there is no tissue where TJP2C is solely present. TJP2 protein is strongly expressed in epithelial and endothelial cells. During mouse embryogenesis at the 16 cell stage, TJP2 assembles at the apico-lateral contact site of blastomeres for the first time. The half-life of TJP2 protein varies according to the degree of confluence of the culture, thus in canine kidney MDCK cells half lives correspond to 8.7 and 19.1 hrs in sparse and confluent cultures respectively.
Localisation Present at the cytoplasmic side of tight junctions in epithelial and endothelial cells. In proliferating cultures and in cells under environmental stress TJP2 is also present at the nucleus. TJP2 enters the nucleus at the late G1 phase of the cell cycle and departs during mitosis. At the nucleus TJP2 exhibits a speckled distribution and co-localizes with splicing factor SC-35 and the nuclear ribonucleoprotein scaffold attachment factor SAF-B. In fibroblasts TJP2 gives a punctate pattern at the cell borders, and in cardiac muscle cells it is detected at the intercalated discs.
Function TJP2 is crucial during development as silencing inhibits blastocele formation in mouse embryos and knock out mice die shortly after implantation due to an arrest in early gastrulation.
TJP2 silencing with siRNA delays in epithelial monolayers the arrival of tight junction proteins to the cell membrane, triggers the novo formation of leaky tight junctions and alters cell polarity, thus suggesting that TJP2 is critical for the correct assembly and function of tight junctions. TJP2 and TJP1 are redundant in their role as promoters of claudins polymerization into tight junction strands.
TJP2 inhibits transcription of human cyclin D1 (CD1) gene, decreases CD1 protein levels due to an increased degradation of the protein at the proteosome, blocks cell cycle progression from G1 phase to S and in consequence inhibits cell proliferation. These observations favor the image of TJP2 as a tumor suppressor protein.
Besides the above mentioned, the nuclear function of TJP2 remains elusive. It localizes in speckles with SC-35 and associates to lamin B1, to transcription factors Jun, Fos, C/EBP and Myc, to SAF-B, a chromatin component involved in the assembly of transcriptosome complexes, and enhances the nuclear localization of ARVCF, an Armadillo-repeat protein that associates with classical cadherins in adherens junctions.
Homology TJP2 shares the following homology and identity (in parenthesis) with TJP1: 68% (54%); TJP3: 63% (45%); PSD-95: 40% (25%) and Dlg: 40% (23%).

Mutations

Epigenetics Microarray analysis indicates that in 70% of primary pancreatic cancers TJP2 is aberrantly methylated.
Germinal Mutation 143T-->C, predicted to cause a valine to alanine substitution (V48A) in TJP2 produces the loss of the alpha-helical structure of PDZ1 domain of TJP2.
Somatic Not known.

Implicated in

Note
  
Entity Pancreatic adenocarcinoma
Note In ductal pancreatic cancer cell lines BxPC3, Capan2, CFPAC1, Colo357, Hs766T, MiaPaCa-2, PL3, PL4, PL7, PL8, PL10, PL11 and PL11, TJP2 gene is methylated. Instead TJP2 gene is not methylated in ductal pancreatic cancer cell lines AsPC1, Capan1, Panc1, PL1, PL5, PL6, PL9, PL13 and PL14. Treatment with the demethylating agent 5-aza-2'-deoxycytidine (5 Aza-dC) induces TJP2 expression in MiaPaCa (8.51 fold) and in Panc1 (1.41 fold) cells but not in AsPC1 and Hs766T.
Methylation analysis by digestion with restriction endonucleases reveals aberrant hypermethylation in PA promoter of isoform TJP2A from bases -383 to 87, which contains 62 CpG dinucleotides, in a variety of human primary pancreatic duct carcinomas and in the neoplastic human pancreatic duct cell lines BxPC-3, CFPAC-1, Hs700T, Hs766T, MiaPaCa-2, Su.86.86. However demethylation of the PA does not recover normal level of TJP2A protein expression in the neoplastic cell lines except Su.86.86.
Isoform TJP2A is specifically missing in pancreatic adenocarcinoma samples and in human pancreatic duct carcinoma cell lines with the exception of line PANC-1.
Disease Pancreatic adenocarcinoma is a disease in which malignant cells form in the regions of the pancreas that have gland like properties. Although the pancreas has exocrine and endocrine cells, about 95% of pancreatic cancers begin in exocrine cells and more than 90% of tumors of the pancreas are ductal adenocarcinomas derived from the exocrine pancreatic ducts. Depending on the extent of the cancer at the time of diagnosis, the prognosis is generally poor with less than 5% of those diagnosed still alive five years after diagnosis. Typically pancreatic cancer first metastasizes to regional lymph nodes, then to the liver and less commonly to the lungs, although it can also directly invade surrounding visceral organs or metastasize to any surface in the abdominal cavity via peritoneal spread.
  
  
Entity Prostate adenocarcinoma
Note In a prostate microarray assay the promoter sequence of TJP2 from cancerous cell lines PC3, PC3M, PC3M-Pro4, PC3M-LN4 and LNCaP showed a significantly diminished hybridization in comparison to normal prostate cell lines RWPE-1, MLcsv40 and 267B1, which indicates a greater methylation of the TJP2 promoter in prostate cancer. However in prostate adenocarcinoma cell lines loss of TJP2A protein is rare.
Disease Prostate is a gland in the male reproductive system located below the bladder and in front of the rectum that produces seminal fluid that nourishes and transports sperm. Most cells in the prostate gland are of the glandular type, therefore the adenocarcinoma is the most common type of cancer to occur in the prostate. In the United States prostate cancer is the most common type of cancer in men, affecting about one in 8. It appears mainly in older men.
  
  
Entity Colon cancer
Note In colon cancer loss of TJP2A protein is rare.
Disease Also called colorectal cancer or large bowel cancer, includes cancerous growths in the colon, rectum and appendix. It is the third most common form of cancer and the second leading cause of cancer related death in the Western world. Colon cancer is thought to arise from adenomatous polyps in the colon. Colon adenocarcinoma accounts for 95% of cases of colon cancer. Colon cancer is the fourth most common cancer of males and females in the United States.
  
  
Entity Breast cancer
Note In comparison to normal cells, TJP2 is found at a much lower protein level in malignant breast epithelia. In cancerous breast TJP2 immunostaining becomes more diffuse and decreases in intensity. By quantitative PCR the level of TJP2 mRNA is slightly elevated in the breast tumor tissues compared to the controls, however this result is not statistically significant.
Disease Breast cancer is a disease in which malignant cells form in the tissues of the breast. Each breast has 15-20 sections called lobes, which have smaller sections named lobules. Lobules end in dozens of tiny bulbs that can produce milk. The lobes, lobules and bulbs are linked by thin tubes called ducts. The most common type of breast cancer is ductal carcinoma that begins in the cells of the ducts. Cancer that begins in the lobes or lobules is called lobular carcinoma and is more often found in both breasts. Because the breast is a glandular tissue nearly all breast cancers are called adenocarcinomas. Breast cancer is the most common type of cancer in women, affecting about 1 in 8 women.
  
  
Entity Testicular in situ carcinoma
Note Loss of blood-testis barrier integrity and a decreased protein level expression of TJP2 is detected in testicular in situ carcinoma. In addition, ZO-2 immunoreactivity became weak and diffuse at the blood testis barrier region and spread to stain the entire lateral site of Sertoli cells as well as their cytoplasm, indicating altered localization.
Disease Testicular cancer is a disease in which malignant cells form in the tissues of one or both testicles. The testicles are 2 egg-shaped glands located inside the scrotum that produce testosterone and sperm. Germ cells within the testicles produce immature sperm that mature as they travel through a network of tubules and tubes into the epididymis. Almost all testicular cancers start in the germ cells. The testicular in situ carcinoma also known as stage 0, is a noninvasive precursor of testicular germ cell tumors, which are the most common type of cancer in young men. In testicular in situ carcinoma, abnormal cells are found in the tiny tubules where the sperm cells begin to develop, and all tumor marker levels are normal at this stage.
  
  
Entity Lung squamous carcinoma
Note Squamous cell carcinomas show a 76% decrease in mRNA level for TJP2.
Disease Lung cancer is a disease that forms in the tissues of the lung. In the United States it is the second most common malignancy after prostate cancer in men and breast cancer in women. The two main types of lung cancer are small cell lung cancers and non-small cell lung cancers, which are diagnosed based on how the cells look under the microscope. One type of non-small cell lung cancer is the squamous cell carcinoma. This cancer begins in squamous cells which are thin, flat cells that look like fish scales. It is also called epidermoid carcinoma. Squamous cell carcinoma is the second commonest type of lung cancer, accounting for 28% of all cases of lung cancer.
  
  
Entity Lung adenocarcinoma
Note Lung adenocarcinomas exhibit a 72% decrease in the mRNA level of TJP2.
Disease Lung cancer is a disease that forms in the tissues of the lung. In the United States it is the second most common malignancy after prostate cancer in men and breast cancer in women. The two main types are small and non-small cell lung cancers, which are diagnosed based on how the cells look under the microscope. One type of non-small cell lung cancer is the adenocarcinoma in which the cancer begins in the cells that line the alveoli and make substances such as mucus. Lung adenocarcinoma is the most common kind of lung cancer in smokers and non-smokers and in people under age 45, accounting for about 40% of all lung cancers.
  
  
Entity Familial hypercholanemia (FHC)
Note Mutation 143T-->C, predicted to cause a valine to alanine substitution (V48A) in TJP2 produces the loss of the alpha-helical structure of PDZ1 domain of TJP2. This mutation reduces PDZ1 domain stability and ligand binding in vitro. Thus binding of PDZ1 domain of TJP2 to peptides corresponding to the six C-terminal amino acids from claudin 1, claudin 2, claudin 3, claudin 5 and claudin 7 is significantly reduced when V48A mutation is present. This mutation is associated with Familial Hypercholanemia (FHC).
Disease Mutation 143T-->C, causing a valine to alanine substitution (V48A) in TJP2 is associated to Familial hypercholanemia (FCH).
Familial hypercholanemia is characterized by elevated serum bile acid concentrations, itching and fat malabsorption. In TJP2143C/143C individuals inheritance is oligogenic, with mutations in bile acid coenzyme A amino acid N-acyltransferase (BAAT), required for clinical disease.
  

To be noted

TJP2 is proposed to be a tumor suppressor gene because: 1) TJP2 protein and/or mRNA expression is either lost or decreased in pancreatic, prostate, breast and lung adenocarcinomas, in testicular in situ carcinoma and in lung squamous carcinoma. 2) Has 40% homology to the tumor suppressor gene Dlg. 3) TJP2 is target of the major oncogenic determinant E4-ORF1 of human adenovirus type 9 (Ad9). E4-ORF1 has a PDZ binding motif that sequesters TJP2 in the cytoplasm blocking its localization at the TJ. Additionally the over-expression of TJP2 suppresses transformation by Ad9 E4-ORF-1, activated Ras V12 and the polyomavirus middle T protein. 4) TJP2 over-expression lowers the level of cyclin D1, blocks cell cycle progression from G1 to S and inhibits cell proliferation.

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Citation

This paper should be referenced as such :
Gonzalez-Mariscal, L ; Garay, E ; Quiros, M ; Tapia, R
TJP2 (tight junction protein 2 (zona occludens 2))
Atlas Genet Cytogenet Oncol Haematol. 2010;14(4):423-428.
Free journal version : [ pdf ]   [ DOI ]
On line version : http://AtlasGeneticsOncology.org/Genes/TJP2ID44347ch9q21.html


External links

Nomenclature
HGNC (Hugo)TJP2   11828
Cards
AtlasTJP2ID44347ch9q21
Entrez_Gene (NCBI)TJP2  9414  tight junction protein 2
AliasesC9DUPq21.11; DFNA51; DUP9q21.11; PFIC4; 
X104; ZO2
GeneCards (Weizmann)TJP2
Ensembl hg19 (Hinxton)ENSG00000119139 [Gene_View]  chr9:71736180-71870124 [Contig_View]  TJP2 [Vega]
Ensembl hg38 (Hinxton)ENSG00000119139 [Gene_View]  chr9:71736180-71870124 [Contig_View]  TJP2 [Vega]
ICGC DataPortalENSG00000119139
TCGA cBioPortalTJP2
AceView (NCBI)TJP2
Genatlas (Paris)TJP2
WikiGenes9414
SOURCE (Princeton)TJP2
Genetics Home Reference (NIH)TJP2
Genomic and cartography
GoldenPath hg19 (UCSC)TJP2  -     chr9:71736180-71870124 +  9q13-q21   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)TJP2  -     9q13-q21   [Description]    (hg38-Dec_2013)
EnsemblTJP2 - 9q13-q21 [CytoView hg19]  TJP2 - 9q13-q21 [CytoView hg38]
Mapping of homologs : NCBITJP2 [Mapview hg19]  TJP2 [Mapview hg38]
OMIM607709   607748   615878   
Gene and transcription
Genbank (Entrez)AA724570 AF083892 AF083893 AF489824 AI738923
RefSeq transcript (Entrez)NM_001170414 NM_001170415 NM_001170416 NM_001170630 NM_004817 NM_201629
RefSeq genomic (Entrez)NC_000009 NC_018920 NG_016342 NT_008470 NW_004929366
Consensus coding sequences : CCDS (NCBI)TJP2
Cluster EST : UnigeneHs.736223 [ NCBI ]
CGAP (NCI)Hs.736223
Alternative Splicing GalleryENSG00000119139
Gene ExpressionTJP2 [ NCBI-GEO ]   TJP2 [ EBI - ARRAY_EXPRESS ]   TJP2 [ SEEK ]   TJP2 [ MEM ]
Gene Expression Viewer (FireBrowse)TJP2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)9414
GTEX Portal (Tissue expression)TJP2
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9UDY2   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9UDY2  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9UDY2
Splice isoforms : SwissVarQ9UDY2
PhosPhoSitePlusQ9UDY2
Domaine pattern : Prosite (Expaxy)GUANYLATE_KINASE_2 (PS50052)    PDZ (PS50106)    SH3 (PS50002)   
Domains : Interpro (EBI)GK/Ca_channel_bsu    Guanylate_kin-like_dom    P-loop_NTPase    PDZ    SH3_2    SH3_domain    ZO    ZO-2   
Domain families : Pfam (Sanger)Guanylate_kin (PF00625)    PDZ (PF00595)    SH3_2 (PF07653)   
Domain families : Pfam (NCBI)pfam00625    pfam00595    pfam07653   
Domain families : Smart (EMBL)GuKc (SM00072)  PDZ (SM00228)  SH3 (SM00326)  
Conserved Domain (NCBI)TJP2
DMDM Disease mutations9414
Blocks (Seattle)TJP2
PDB (SRS)2OSG    3E17   
PDB (PDBSum)2OSG    3E17   
PDB (IMB)2OSG    3E17   
PDB (RSDB)2OSG    3E17   
Structural Biology KnowledgeBase2OSG    3E17   
SCOP (Structural Classification of Proteins)2OSG    3E17   
CATH (Classification of proteins structures)2OSG    3E17   
SuperfamilyQ9UDY2
Human Protein AtlasENSG00000119139
Peptide AtlasQ9UDY2
HPRD06369
IPIIPI00003843   IPI00797934   IPI00216245   IPI00216246   IPI00332453   IPI00955040   IPI00955022   IPI00477708   
Protein Interaction databases
DIP (DOE-UCLA)Q9UDY2
IntAct (EBI)Q9UDY2
FunCoupENSG00000119139
BioGRIDTJP2
STRING (EMBL)TJP2
ZODIACTJP2
Ontologies - Pathways
QuickGOQ9UDY2
Ontology : AmiGOguanylate kinase activity  protein binding  nucleoplasm  cytoplasm  cytosol  plasma membrane  plasma membrane  adherens junction  bicellular tight junction  protein C-terminus binding  protein domain specific binding  cell junction  protein binding, bridging  hippo signaling  GMP metabolic process  GDP metabolic process  intestinal absorption  TNFSF11-mediated signaling pathway  establishment of endothelial intestinal barrier  regulation of membrane permeability  negative regulation of osteoclast development  
Ontology : EGO-EBIguanylate kinase activity  protein binding  nucleoplasm  cytoplasm  cytosol  plasma membrane  plasma membrane  adherens junction  bicellular tight junction  protein C-terminus binding  protein domain specific binding  cell junction  protein binding, bridging  hippo signaling  GMP metabolic process  GDP metabolic process  intestinal absorption  TNFSF11-mediated signaling pathway  establishment of endothelial intestinal barrier  regulation of membrane permeability  negative regulation of osteoclast development  
Pathways : KEGGTight junction    Vibrio cholerae infection   
REACTOMEQ9UDY2 [protein]
REACTOME Pathways2028269 [pathway]   351906 [pathway]   
NDEx NetworkTJP2
Atlas of Cancer Signalling NetworkTJP2
Wikipedia pathwaysTJP2
Orthology - Evolution
OrthoDB9414
GeneTree (enSembl)ENSG00000119139
Phylogenetic Trees/Animal Genes : TreeFamTJP2
HOVERGENQ9UDY2
HOGENOMQ9UDY2
Homologs : HomoloGeneTJP2
Homology/Alignments : Family Browser (UCSC)TJP2
Gene fusions - Rearrangements
Fusion : MitelmanSTON2/TJP2 [14q31.1/9q21.11]  [t(9;14)(q21;q31)]  
Fusion : MitelmanTJP2/FXN [9q21.11/9q21.11]  [t(9;9)(q21;q21)]  
Fusion : MitelmanTJP2/TMEM38B [9q21.11/9q31.2]  [t(9;9)(q21;q31)]  
Fusion: TCGASTON2 14q31.1 TJP2 9q21.11 BRCA
Fusion: TCGATJP2 9q21.11 FXN 9q21.11 BLCA
Fusion: TCGATJP2 9q21.11 TMEM38B 9q31.2 BRCA
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerTJP2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)TJP2
dbVarTJP2
ClinVarTJP2
1000_GenomesTJP2 
Exome Variant ServerTJP2
ExAC (Exome Aggregation Consortium)TJP2 (select the gene name)
Genetic variants : HAPMAP9414
Genomic Variants (DGV)TJP2 [DGVbeta]
DECIPHER (Syndromes)9:71736180-71870124  ENSG00000119139
CONAN: Copy Number AnalysisTJP2 
Mutations
ICGC Data PortalTJP2 
TCGA Data PortalTJP2 
Broad Tumor PortalTJP2
OASIS PortalTJP2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICTJP2  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDTJP2
intOGen PortalTJP2
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch TJP2
DgiDB (Drug Gene Interaction Database)TJP2
DoCM (Curated mutations)TJP2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)TJP2 (select a term)
intoGenTJP2
NCG5 (London)TJP2
Cancer3DTJP2(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM607709    607748    615878   
Orphanet19267    12046    11330   
MedgenTJP2
Genetic Testing Registry TJP2
NextProtQ9UDY2 [Medical]
TSGene9414
GENETestsTJP2
Huge Navigator TJP2 [HugePedia]
snp3D : Map Gene to Disease9414
BioCentury BCIQTJP2
ClinGenTJP2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD9414
Chemical/Pharm GKB GenePA36533
Clinical trialTJP2
Miscellaneous
canSAR (ICR)TJP2 (select the gene name)
Probes
Litterature
PubMed101 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineTJP2
EVEXTJP2
GoPubMedTJP2
iHOPTJP2
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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